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 SAMD11 148398 genome.wustl.edu 37 1 874497 874497 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152486.2 +1 validated p.E170K 0.991 82 0% 41 36.6% - - benign(0) tolerated(0.75) neutral(0.002) NULL ATAD3B 83858 genome.wustl.edu 37 1 1413926 1413926 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000401951 +1 known p.R16Q 0.000 62 0% 44 40.9% - - - - - NULL ATAD3A 55210 genome.wustl.edu 37 1 1454313 1454313 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018188.3 +1 validated p.E201* 1.000 561 0% 379 12.7% - - - - - NULL SSU72 29101 genome.wustl.edu 37 1 1477515 1477515 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014188.2 -1 validated p.I172 0.009 97 1% 79 36.7% - - - - - HMMPfam_Ssu72 MIB2 142678 genome.wustl.edu 37 1 1563491 1563491 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000514234 +1 known p.R465* 0.977 61 0% 54 29.6% - - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat CDK11A 728642 genome.wustl.edu 37 1 1654209 1654209 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024011.2 -1 reviewed p.L17I 1.000 584 0% 349 21.2% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NADK 65220 genome.wustl.edu 37 1 1685498 1685498 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023018.3 -1 validated p.E365K 1.000 53 0% 25 40% - - probably_damaging(0.998) tolerated(0.43) deleterious(0.488) HMMPfam_NAD_kinase,superfamily_NAD kinase (Pfam 01513) NADK 65220 genome.wustl.edu 37 1 1688616 1688616 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000344463 -1 known p.R237C 0.007 27 0% 13 61.5% - - benign(0.104) deleterious(0) neutral(0.453) NULL KIAA1751 85452 genome.wustl.edu 37 1 1888205 1888205 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080484.1 -1 predicted p.L624F 1.000 132 0% 84 36.9% - - possibly_damaging(0.456) tolerated(0.8) neutral(0.150) NULL C1orf222 339457 genome.wustl.edu 37 1 1890560 1890560 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000493316 -1 known p.R78* 0.007 153 0% 122 41% - - benign(0.158) tolerated(0.26) neutral(0.048) NULL KIAA1751 85452 genome.wustl.edu 37 1 1897900 1897900 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080484.1 -1 predicted p.I437 0.034 56 0% 46 43.5% - - - - - NULL GABRD 2563 genome.wustl.edu 37 1 1961159 1961159 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000815.4 +1 reviewed p.K339N 1.000 120 0% 75 32% - - benign(0.055) tolerated(0.29) neutral(0.033) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM MMEL1 79258 genome.wustl.edu 37 1 2529726 2529726 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033467.3 -1 reviewed p.Y389D 1.000 222 0% 160 36.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" PRDM16 63976 genome.wustl.edu 37 1 3350324 3350324 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022114.3 +1 reviewed p.V1259 0.987 146 0% 110 37.3% - - - - - NULL ARHGEF16 27237 genome.wustl.edu 37 1 3379972 3379972 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014448.3 +1 reviewed p.F108 0.152 21 0% 17 52.9% - - - - - NULL ARHGEF16 27237 genome.wustl.edu 37 1 3389648 3389648 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014448.3 +1 reviewed p.F343 0.881 111 0% 72 18.1% - - - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) TPRG1L 127262 genome.wustl.edu 37 1 3544084 3544084 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182752.3 +1 validated p.R164Q 1.000 162 0% 83 15.7% - - probably_damaging(0.997) tolerated(0.11) deleterious(0.738) NULL WRAP73 49856 genome.wustl.edu 37 1 3563305 3563305 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017818.3 -1 reviewed p.D88 1.000 123 0% 72 19.4% - - - - - superfamily_C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase CCDC27 148870 genome.wustl.edu 37 1 3683117 3683117 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152492.2 +1 validated p.D491Y 0.786 258 0% 88 44.3% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL CCDC27 148870 genome.wustl.edu 37 1 3683828 3683828 + Missense_Mutation SNP A A C rs142578610 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152492.2 +1 validated p.K521T 0.001 93 0% 48 27.1% - - benign(0.42) tolerated(0.31) neutral(0.163) NULL DFFB 1677 genome.wustl.edu 37 1 3800135 3800135 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004402.2 +1 reviewed p.E283* 0.991 577 0.2% 303 33% - - - - - HMMPfam_DFF40,superfamily_His-Me finger endonucleases AJAP1 55966 genome.wustl.edu 37 1 4772689 4772689 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042478.1 +1 validated p.T253 0.749 66 0% 43 39.5% - - - - - NULL AJAP1 55966 genome.wustl.edu 37 1 4832549 4832549 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042478.1 +1 validated p.T376M 0.876 74 0% 60 28.3% - - unknown(0) deleterious(0) - NULL NPHP4 261734 genome.wustl.edu 37 1 5934951 5934951 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015102.2 -1 reviewed p.I1009 0.697 86 0% 48 29.2% - - - - - NULL NPHP4 261734 genome.wustl.edu 37 1 6012845 6012845 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015102.2 -1 reviewed p.D242G 0.966 61 0% 27 22.2% - - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL KCNAB2 8514 genome.wustl.edu 37 1 6142305 6142305 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003636.2 +1 reviewed p.F84 0.987 137 0% 118 44.9% - - - - - HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase ACOT7 11332 genome.wustl.edu 37 1 6399610 6399610 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181864.2 -1 reviewed p.D111N 1.000 27 0% 23 17.4% - - benign(0.328) tolerated(0.29) neutral(0.132) HMMPfam_4HBT,superfamily_Thioesterase/thiol ester dehydrase-isomerase TAS1R1 80835 genome.wustl.edu 37 1 6638968 6638968 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138697.3 +1 reviewed p.G617D 0.704 178 0% 133 37.6% - - benign(0.124) tolerated(0.2) neutral(0.059) HMMPfam_7tm_3 PHF13 148479 genome.wustl.edu 37 1 6680182 6680182 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153812.2 +1 validated p.S154N 0.887 37 0% 27 40.7% - - possibly_damaging(0.797) tolerated(0.47) neutral(0.310) NULL THAP3 90326 genome.wustl.edu 37 1 6692491 6692491 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138350.2 +1 provisional p.R132I 0.020 64 0% 45 26.7% - - probably_damaging(0.996) tolerated(0.13) deleterious(0.714) NULL DNAJC11 55735 genome.wustl.edu 37 1 6697286 6697286 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018198.3 -1 validated p.S499L 1.000 203 0% 185 39.5% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL DNAJC11 55735 genome.wustl.edu 37 1 6704684 6704684 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018198.3 -1 validated p.S344F 1.000 184 0% 108 31.5% - - probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL PER3 8863 genome.wustl.edu 37 1 7845553 7845553 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016831.1 +1 reviewed p.E61* 1.000 132 0% 73 31.5% - - - - - NULL ERRFI1 54206 genome.wustl.edu 37 1 8073509 8073509 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018948.3 -1 validated p.E384* 1.000 442 0% 230 36.1% - - - - - NULL RERE 473 genome.wustl.edu 37 1 8418430 8418430 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042681.1 -1 reviewed p.E1389K 1.000 136 0% 99 44.4% - - probably_damaging(0.992) deleterious(0.03) deleterious(0.812) HMMPfam_Atrophin-1 RERE 473 genome.wustl.edu 37 1 8421496 8421496 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042681.1 -1 reviewed p.R691C 1.000 300 0% 221 32.6% - - unknown(0) deleterious(0.02) - HMMPfam_Atrophin-1 RERE 473 genome.wustl.edu 37 1 8716126 8716126 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042681.1 -1 reviewed p.K77N 1.000 630 0% 344 14% - - unknown(0) deleterious(0.01) - NULL SLC2A7 155184 genome.wustl.edu 37 1 9078345 9078345 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207420.2 -1 provisional p.V176I 0.932 166 0% 89 36% - - benign(0.004) tolerated(1) - HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter CLSTN1 22883 genome.wustl.edu 37 1 9790694 9790694 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009566.1 -1 validated p.E940K 1.000 125 0% 92 19.6% - - benign(0.058) tolerated(0.08) neutral(0.303) NULL CLSTN1 22883 genome.wustl.edu 37 1 9791315 9791315 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009566.1 -1 validated p.N899 0.799 100 0% 57 45.6% - - - - - NULL CLSTN1 22883 genome.wustl.edu 37 1 9809933 9809933 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009566.1 -1 validated p.E230* 0.998 570 0% 312 33% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like UBE4B 10277 genome.wustl.edu 37 1 10209262 10209262 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105562.1 +1 reviewed p.S871* 1.000 409 0% 193 35.2% - - - - - HMMPfam_Ufd2P_core KIF1B 23095 genome.wustl.edu 37 1 10397247 10397247 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015074.3 +1 reviewed p.R1036Q 0.998 355 0% 228 34.2% - - possibly_damaging(0.596) tolerated(0.7) neutral(0.208) NULL KIF1B 23095 genome.wustl.edu 37 1 10425540 10425540 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015074.3 +1 reviewed p.S1483L 0.996 263 0% 191 33.5% - - benign(0) tolerated(0.31) neutral(0.027) NULL PGD 5226 genome.wustl.edu 37 1 10478955 10478955 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002631.2 +1 reviewed p.F394L 1.000 312 0% 104 26.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_6PGD,superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like CASZ1 54897 genome.wustl.edu 37 1 10699607 10699607 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079843.1 -1 validated p.A1558T 1.000 34 0% 28 60.7% - - possibly_damaging(0.577) tolerated(0.48) neutral(0.209) NULL CASZ1 54897 genome.wustl.edu 37 1 10699878 10699878 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079843.1 -1 validated p.K1467 1.000 57 0% 52 15.4% - - - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CASZ1 54897 genome.wustl.edu 37 1 10708004 10708004 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079843.1 -1 validated p.L1117 0.998 90 0% 59 40.7% - - - - - NULL CASZ1 54897 genome.wustl.edu 37 1 10725344 10725344 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079843.1 -1 validated p.A101T 0.709 52 0% 52 38.5% - - benign(0.01) deleterious(0.04) neutral(0.349) NULL C1orf127 148345 genome.wustl.edu 37 1 11015211 11015211 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000377008 -1 known p.H104N 0.015 277 0% 165 32.7% - - possibly_damaging(0.806) deleterious(0) deleterious(0.748) NULL EXOSC10 5394 genome.wustl.edu 37 1 11128742 11128742 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001998.1 -1 validated p.S837Y 0.113 365 0% 223 37.7% - - benign(0.265) deleterious(0.02) neutral(0.411) NULL MTOR 2475 genome.wustl.edu 37 1 11184573 11184573 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004958.3 -1 reviewed p.S2215Y 1.000 291 0% 180 25.6% - - benign(0.125) deleterious(0.01) neutral(0.416) HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,superfamily_Kinase_like,superfamily_ARM-type_fold MTOR 2475 genome.wustl.edu 37 1 11204802 11204802 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004958.3 -1 reviewed p.S1592Y 1.000 131 0% 80 46.3% - - possibly_damaging(0.644) tolerated(0.09) deleterious(0.522) HMMPfam_FAT,superfamily_ARM-type_fold,superfamily_SSF48452 MTOR 2475 genome.wustl.edu 37 1 11307755 11307755 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004958.3 -1 reviewed p.K384N 1.000 287 0% 151 31.1% - - probably_damaging(0.954) deleterious(0) deleterious(0.842) superfamily_ARM-type_fold C1orf187 374946 genome.wustl.edu 37 1 11771927 11771927 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198545.3 +1 validated p.D221G 0.934 145 0% 75 41.3% - - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL C1orf187 374946 genome.wustl.edu 37 1 11779689 11779689 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198545.3 +1 validated p.R329M 1.000 76 0% 44 38.6% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL CLCN6 1185 genome.wustl.edu 37 1 11897555 11897555 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001286.2 +1 reviewed p.S765L 1.000 89 1.1% 64 29.7% - - possibly_damaging(0.452) tolerated(0.66) neutral(0.150) HMMPfam_CBS MIIP 60672 genome.wustl.edu 37 1 12091394 12091394 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000436478 +1 known p.S306F 1.000 58 0% 42 35.7% - - unknown(0) - - NULL VPS13D 55187 genome.wustl.edu 37 1 12337028 12337028 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015378.2 +1 reviewed p.K1128T 1.000 122 0% 75 12% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL AADACL4 343066 genome.wustl.edu 37 1 12726669 12726669 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013630.1 +1 provisional p.F383V 0.054 70 0% 36 16.7% - - benign(0.108) deleterious(0.02) neutral(0.392) superfamily_SSF53474 AADACL3 126767 genome.wustl.edu 37 1 12779491 12779491 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001103170.1 +1 validated p.E4D 0.957 284 0% 143 40.6% - - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL PRAMEF1 65121 genome.wustl.edu 37 1 12854401 12854401 + Missense_Mutation SNP G G A rs78584260 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023013.1 +1 provisional p.E209K 0.001 1092 0% 532 23.1% - - benign(0.309) deleterious(0.01) deleterious(0.502) superfamily_SSF52047 PRAMEF4 400735 genome.wustl.edu 37 1 12941936 12941936 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009611.2 -1 validated p.N205S 0.001 120 0.8% 58 31% - - possibly_damaging(0.903) tolerated(0.34) neutral(0.381) superfamily_SSF52047 PRAMEF4 400735 genome.wustl.edu 37 1 12942094 12942094 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009611.2 -1 validated p.F152 0.000 209 1.4% 114 33.3% - - - - - superfamily_SSF52047 PRAMEF10 343071 genome.wustl.edu 37 1 12954829 12954829 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039361.3 -1 validated p.D152Y 0.029 604 0% 266 16.5% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_SSF52047 PRAMEF7 441871 genome.wustl.edu 37 1 12979887 12979887 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012277.1 +1 provisional p.I360T 0.007 194 0.5% 175 25.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_RNI-like ENSG00000229571 0 genome.wustl.edu 37 1 13219401 13219401 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000423177 -1 known p.E61* 0.001 308 0% 136 19.9% - - possibly_damaging(0.779) deleterious(0.01) deleterious(0.697) superfamily_RNI-like PDPN 10630 genome.wustl.edu 37 1 13933681 13933681 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006474.4 +1 reviewed p.Q103 0.010 155 0% 105 40% - - - - - HMMPfam_Podoplanin PRDM2 7799 genome.wustl.edu 37 1 14108531 14108531 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012231.4 +1 reviewed p.S1414L 0.251 113 0% 63 20.6% - - probably_damaging(0.962) tolerated(0.1) deleterious(0.692) NULL CELA2B 51032 genome.wustl.edu 37 1 15813918 15813918 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015849.2 +1 reviewed p.D260Y 0.001 146 0% 124 32.3% - - possibly_damaging(0.944) deleterious(0) deleterious(0.833) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys DNAJC16 23341 genome.wustl.edu 37 1 15894641 15894641 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015291.2 +1 provisional p.F773C 1.000 49 0% 35 48.6% - - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL RSC1A1 6248 genome.wustl.edu 37 1 15988150 15988150 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006511.1 +1 provisional p.R596Q 1.000 566 0% 341 17.9% - - possibly_damaging(0.833) deleterious(0) deleterious(0.762) HMMSmart_UBA PLEKHM2 23207 genome.wustl.edu 37 1 16060342 16060342 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015164.2 +1 validated p.F991 0.997 79 0% 47 29.8% - - - - - NULL SPEN 23013 genome.wustl.edu 37 1 16242692 16242692 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000442985 +1 known p.E178* 1.000 323 0.3% 164 30.5% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_RNA-binding domain RBD SPEN 23013 genome.wustl.edu 37 1 16245426 16245426 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000442985 +1 known p.L207S 0.995 333 0% 205 32.2% - - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD SPEN 23013 genome.wustl.edu 37 1 16254701 16254701 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015001.2 +1 reviewed p.E656* 1.000 175 0% 91 33% - - - - - NULL SPEN 23013 genome.wustl.edu 37 1 16256144 16256144 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015001.2 +1 reviewed p.R1137C 1.000 88 0% 45 42.2% - - possibly_damaging(0.949) deleterious(0) deleterious(0.838) NULL SPEN 23013 genome.wustl.edu 37 1 16256435 16256435 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015001.2 +1 reviewed p.D1234N 0.998 124 0% 85 29.4% - - probably_damaging(0.98) deleterious(0.03) deleterious(0.788) NULL CLCNKB 1188 genome.wustl.edu 37 1 16375652 16375652 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000085.3 +1 reviewed p.F231L 1.000 209 0% 121 25.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Voltage_CLC,superfamily_Clc chloride channel CLCNKB 1188 genome.wustl.edu 37 1 16378032 16378032 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000085.3 +1 reviewed p.I429 0.573 813 0% 477 39.6% - - - - - HMMPfam_Voltage_CLC,superfamily_Clc chloride channel NBPF1 55672 genome.wustl.edu 37 1 16890675 16890675 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017940.3 -1 predicted p.S1045 0.000 1046 0.2% 747 10.3% - - - - - HMMPfam_DUF1220 NBPF1 55672 genome.wustl.edu 37 1 16901178 16901178 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017940.3 -1 predicted p.P734 0.003 817 0% 435 9.2% - - - - - HMMPfam_DUF1220 CROCC 9696 genome.wustl.edu 37 1 17248549 17248549 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014675.3 +1 validated p.E12D 0.328 55 0% 31 16.1% - - unknown(0) tolerated(0.23) - NULL PADI2 11240 genome.wustl.edu 37 1 17410232 17410232 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007365.2 -1 reviewed p.R347C 1.000 170 0% 132 38.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAD,superfamily_SSF55909 PADI1 29943 genome.wustl.edu 37 1 17548859 17548859 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013358.2 +1 reviewed p.R56H 0.007 103 0% 76 35.5% - - possibly_damaging(0.906) tolerated(0.37) neutral(0.379) superfamily_Cupredoxins,HMMPfam_PAD_N PADI4 23569 genome.wustl.edu 37 1 17668844 17668844 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012387.2 +1 reviewed p.A294 0.132 94 0% 60 13.3% - - - - - HMMPfam_PAD,superfamily_Pentein RCC2 55920 genome.wustl.edu 37 1 17735630 17735630 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136204.1 -1 validated p.E509* 1.000 726 0% 354 33.9% - - - - - NULL RCC2 55920 genome.wustl.edu 37 1 17752171 17752171 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136204.1 -1 validated p.R130H 1.000 24 0% 26 34.6% - - probably_damaging(0.989) tolerated(0.13) deleterious(0.692) superfamily_RCC1/BLIP-II ACTL8 81569 genome.wustl.edu 37 1 18152999 18152999 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030812.2 +1 validated p.E362 0.554 137 0% 93 45.2% - - - - - HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 IFFO2 126917 genome.wustl.edu 37 1 19244929 19244929 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136265.1 -1 validated p.R297Q 1.000 276 0% 170 41.2% - - probably_damaging(0.999) tolerated(0.16) deleterious(0.550) HMMPfam_Filament UBR4 23352 genome.wustl.edu 37 1 19408037 19408037 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020765.2 -1 validated p.N5013 1.000 217 0% 137 30.7% - - - - - NULL UBR4 23352 genome.wustl.edu 37 1 19415446 19415446 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020765.2 -1 validated p.P4746L 1.000 50 0% 58 37.9% - - benign(0) tolerated(0.35) neutral(0.021) superfamily_ARM repeat UBR4 23352 genome.wustl.edu 37 1 19442122 19442122 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020765.2 -1 validated p.R3611 0.889 45 0% 42 35.7% - - - - - superfamily_ARM repeat UBR4 23352 genome.wustl.edu 37 1 19470546 19470546 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020765.2 -1 validated p.R2703* 1.000 541 0% 265 35.5% - - - - - superfamily_ARM repeat UBR4 23352 genome.wustl.edu 37 1 19488354 19488354 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020765.2 -1 validated p.T1665M 1.000 301 0% 183 35.5% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_zf-UBR,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00396,superfamily_ARM repeat MRTO4 51154 genome.wustl.edu 37 1 19581309 19581309 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016183.3 +1 reviewed p.E21G 1.000 498 0% 276 15.2% - - possibly_damaging(0.521) tolerated(0.12) neutral(0.436) HMMPfam_Ribosomal_L10 RNF186 54546 genome.wustl.edu 37 1 20141521 20141521 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019062.1 -1 provisional p.A25V 0.000 28 0% 15 26.7% - - benign(0.201) deleterious(0.02) neutral(0.402) NULL OTUD3 23252 genome.wustl.edu 37 1 20234191 20234191 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015207.1 +1 validated p.A383 0.000 207 0% 102 30.4% - - - - - NULL CDA 978 genome.wustl.edu 37 1 20931520 20931520 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001785.2 +1 reviewed p.I85T 1.000 263 0% 118 39.8% - - probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMPfam_dCMP_cyt_deam_1,PatternScan_CYT_DCMP_DEAMINASES,superfamily_Cytidine_deaminase-like DDOST 1650 genome.wustl.edu 37 1 20982660 20982660 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005216.4 -1 reviewed p.V113M 0.995 76 0% 54 48.1% - - benign(0.148) deleterious(0.04) neutral(0.362) HMMPfam_DDOST_48kD HP1BP3 50809 genome.wustl.edu 37 1 21074117 21074117 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016287.3 -1 validated p.C391 0.226 204 0% 91 34.1% - - - - - "HMMPfam_Linker_histone,HMMSmart_SM00526,superfamily_""Winged helix"" DNA-binding domain" EIF4G3 8672 genome.wustl.edu 37 1 21154187 21154187 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003760.3 -1 validated p.F1342L 1.000 190 0% 134 12.7% - - benign(0) tolerated(0.74) neutral(0.002) NULL EIF4G3 8672 genome.wustl.edu 37 1 21188756 21188756 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003760.3 -1 validated p.R970W 1.000 351 0% 217 40.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_MIF4G,HMMSmart_SM00543,superfamily_ARM repeat EIF4G3 8672 genome.wustl.edu 37 1 21226289 21226289 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003760.3 -1 validated p.R578C 0.989 576 0% 330 36.7% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL ECE1 1889 genome.wustl.edu 37 1 21571534 21571534 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001397.2 -1 reviewed p.R409H 1.000 285 0% 174 35.1% - - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" RAP1GAP 5909 genome.wustl.edu 37 1 21934721 21934721 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145658.1 -1 validated p.F491L 1.000 103 0% 79 39.2% - - benign(0.245) tolerated(0.12) neutral(0.286) NULL RAP1GAP 5909 genome.wustl.edu 37 1 21936767 21936767 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145658.1 -1 validated p.L346S 1.000 64 0% 30 30% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) RAP1GAP 5909 genome.wustl.edu 37 1 21940145 21940145 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145658.1 -1 validated p.F214 1.000 195 0% 107 36.4% - - - - - superfamily_Rap/Ran-GAP (Pfam 02145) RAP1GAP 5909 genome.wustl.edu 37 1 21940547 21940547 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145658.1 -1 validated p.L173 0.819 196 0% 117 29.9% - - - - - superfamily_Rap/Ran-GAP (Pfam 02145) ZBTB40 9923 genome.wustl.edu 37 1 22817918 22817918 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001083621.1 +1 validated p.L241 1.000 145 0% 63 39.7% - - - - - NULL ZBTB40 9923 genome.wustl.edu 37 1 22817991 22817991 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001083621.1 +1 validated p.E266K 1.000 137 0% 54 33.3% - - benign(0.273) deleterious(0.01) neutral(0.435) NULL EPHA8 2046 genome.wustl.edu 37 1 22903214 22903214 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020526.3 +1 reviewed p.D222N 1.000 44 0% 49 42.9% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL EPHA8 2046 genome.wustl.edu 37 1 22920023 22920023 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020526.3 +1 reviewed p.E483* 1.000 30 0% 31 32.3% - - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like C1QA 712 genome.wustl.edu 37 1 22965820 22965820 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015991.2 +1 reviewed p.D220Y 0.003 84 0% 45 37.8% - - possibly_damaging(0.645) deleterious(0.02) deleterious(0.609) HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like C1QA 712 genome.wustl.edu 37 1 22965932 22965932 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000339353 +1 known p.L252I 0.118 14 0% 15 53.3% - - unknown(0) deleterious(0) - NULL C1QC 714 genome.wustl.edu 37 1 22973958 22973958 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001114101.1 +1 reviewed p.F140L 1.000 198 0% 110 37.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like C1QB 713 genome.wustl.edu 37 1 22986021 22986021 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000491.3 +1 reviewed p.I24 0.008 80 1.3% 48 12.5% - - - - - NULL EPHB2 2048 genome.wustl.edu 37 1 23110922 23110922 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004442.6 +1 reviewed p.T55M 1.000 126 0% 82 29.3% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,superfamily_Gal_bind_like LUZP1 7798 genome.wustl.edu 37 1 23415419 23415419 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142546.1 -1 reviewed p.R1067Q 0.047 100 0% 79 34.2% - - benign(0.09) tolerated(0.05) neutral(0.352) NULL LUZP1 7798 genome.wustl.edu 37 1 23417939 23417939 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142546.1 -1 reviewed p.R939Q 0.047 226 0% 154 41.6% - - benign(0.027) tolerated(0.08) neutral(0.301) NULL HNRNPR 10236 genome.wustl.edu 37 1 23637504 23637504 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001102398.1 -1 reviewed p.R452W 1.000 449 0% 198 14.6% - - unknown(0) tolerated(0.11) - superfamily_SSF54928 ZNF436 80818 genome.wustl.edu 37 1 23689031 23689031 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077195.1 -1 validated p.E282K 0.719 220 0% 144 33.3% - - probably_damaging(0.977) tolerated(0.15) deleterious(0.660) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 TCEA3 6920 genome.wustl.edu 37 1 23743831 23743831 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003196.1 -1 validated p.K97N 1.000 817 0% 445 26.7% - - possibly_damaging(0.819) tolerated(0.45) neutral(0.322) NULL ASAP3 55616 genome.wustl.edu 37 1 23756371 23756371 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017707.3 -1 reviewed p.S897F 0.996 109 0% 71 23.9% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL MYOM3 127294 genome.wustl.edu 37 1 24388600 24388600 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152372.3 -1 validated e32-1 1.000 167 0% 133 31.6% - - - - - - MYOM3 127294 genome.wustl.edu 37 1 24417405 24417405 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152372.3 -1 validated p.V438 0.000 163 0% 113 46% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III C1orf201 90529 genome.wustl.edu 37 1 24700275 24700275 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178122.3 -1 predicted p.R116I 0.008 150 0% 85 29.4% - - possibly_damaging(0.662) tolerated(0.14) deleterious(0.484) NULL SRRM1 10250 genome.wustl.edu 37 1 24995771 24995771 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005839.3 +1 validated p.R633W 1.000 475 0% 204 33.8% - - unknown(0) deleterious(0) - NULL RUNX3 864 genome.wustl.edu 37 1 25233903 25233903 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031680.2 -1 reviewed p.R198W 1.000 48 0% 46 32.6% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Runt TMEM50A 23585 genome.wustl.edu 37 1 25679441 25679441 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014313.2 +1 reviewed p.L115I 1.000 688 0% 319 40.1% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_UPF0220 TMEM57 55219 genome.wustl.edu 37 1 25810697 25810697 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018202.4 +1 validated p.S415 0.018 57 0% 30 40% - - - - - HMMPfam_Macoilin TMEM57 55219 genome.wustl.edu 37 1 25817913 25817913 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018202.4 +1 validated p.Y544D 1.000 151 0% 70 38.6% - - probably_damaging(0.996) tolerated(0.15) deleterious(0.703) superfamily_Prefoldin,HMMPfam_Macoilin MAN1C1 57134 genome.wustl.edu 37 1 26109183 26109183 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020379.2 +1 validated p.E586D 1.000 329 0% 190 31.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 SEPN1 57190 genome.wustl.edu 37 1 26136285 26136285 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000354177 +1 known p.D294 0.978 264 0% 134 34.3% - - - - - NULL LOC100289250 100289250 genome.wustl.edu 37 1 26189689 26189689 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342048.1 +1 model p.V56I 0.082 71 0% 47 31.9% - - - - - NULL STMN1 3925 genome.wustl.edu 37 1 26228112 26228112 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145454.1 -1 reviewed p.L83P 0.997 924 0% 531 37.1% - - possibly_damaging(0.785) deleterious(0) deleterious(0.738) HMMPfam_Stathmin,superfamily_Stathmin EXTL1 2134 genome.wustl.edu 37 1 26349181 26349181 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004455.2 +1 reviewed p.S15L 0.990 85 0% 73 39.7% - - unknown(0) deleterious(0.05) - NULL EXTL1 2134 genome.wustl.edu 37 1 26349434 26349434 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004455.2 +1 reviewed p.F99 0.177 194 0% 94 36.2% - - - - - HMMPfam_Exostosin CEP85 64793 genome.wustl.edu 37 1 26582329 26582329 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022778.2 +1 provisional p.L292F 0.999 143 0% 117 23.9% - - possibly_damaging(0.454) deleterious(0.04) deleterious(0.497) NULL ZNF683 257101 genome.wustl.edu 37 1 26688336 26688336 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001114759.1 -1 validated p.P441S 0.774 102 0% 106 29.2% - - benign(0.002) tolerated(0.05) neutral(0.345) NULL ZNF683 257101 genome.wustl.edu 37 1 26691051 26691051 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001114759.1 -1 validated p.K329T 1.000 207 0% 121 38.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF683 257101 genome.wustl.edu 37 1 26691650 26691650 + Missense_Mutation SNP C C A rs187778427 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001114759.1 -1 validated p.Q129H 0.000 169 0% 115 36.5% - - benign(0.253) tolerated(0.18) neutral(0.082) NULL ZNF683 257101 genome.wustl.edu 37 1 26694120 26694120 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001114759.1 -1 validated p.D95N 0.002 48 0% 23 30.4% - - possibly_damaging(0.602) tolerated(0.46) neutral(0.221) NULL ARID1A 8289 genome.wustl.edu 37 1 27093043 27093043 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006015.4 +1 reviewed p.E992* 1.000 164 0.6% 64 32.8% - - - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27101574 27101574 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006015.4 +1 reviewed p.P1619L 1.000 141 0% 62 40.3% - - possibly_damaging(0.947) deleterious(0.04) deleterious(0.740) NULL ARID1A 8289 genome.wustl.edu 37 1 27106354 27106354 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006015.4 +1 reviewed p.R1989* 1.000 230 0% 144 36.8% - - - - - NULL PIGV 55650 genome.wustl.edu 37 1 27124067 27124067 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017837.2 +1 validated p.F405C 1.000 388 0.3% 207 30.4% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_Mannosyl_trans2 PIGV 55650 genome.wustl.edu 37 1 27124247 27124247 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017837.2 +1 validated p.S465Y 0.999 377 0% 198 18.7% - - probably_damaging(0.983) deleterious(0.01) deleterious(0.835) HMMPfam_Mannosyl_trans2 GPATCH3 63906 genome.wustl.edu 37 1 27226777 27226777 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022078.2 -1 validated p.P53S 1.000 41 0% 41 19.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC646567 646567 genome.wustl.edu 37 1 27312483 27312483 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_929503.3 -1 model p.L117I 1.000 276 0% 142 18.3% - - - - - HMMPfam_DUF2055 FAM46B 115572 genome.wustl.edu 37 1 27333242 27333242 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052943.3 -1 validated p.A157 0.004 61 0% 61 39.3% - - - - - HMMPfam_DUF1693 SLC9A1 6548 genome.wustl.edu 37 1 27440440 27440440 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003047.3 -1 validated p.F230 0.993 131 0% 102 26.5% - - - - - HMMPfam_Na_H_Exchanger SYTL1 84958 genome.wustl.edu 37 1 27679962 27679962 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032872.1 +1 provisional p.R499H 1.000 35 0% 22 50% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB EYA3 2140 genome.wustl.edu 37 1 28315088 28315088 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001990.2 -1 reviewed p.E500* 1.000 226 0% 126 38.1% - - - - - HMMPfam_Hydrolase EYA3 2140 genome.wustl.edu 37 1 28326510 28326510 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001990.2 -1 reviewed p.F348L 1.000 245 0% 117 34.2% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Hydrolase SESN2 83667 genome.wustl.edu 37 1 28599955 28599955 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031459.3 +1 reviewed p.S279 1.000 59 0% 66 34.8% - - - - - HMMPfam_PA26 PHACTR4 65979 genome.wustl.edu 37 1 28792355 28792355 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023923.3 +1 reviewed p.R154Q 0.000 234 0% 127 33.9% - - probably_damaging(0.994) tolerated(0.12) deleterious(0.713) NULL PHACTR4 65979 genome.wustl.edu 37 1 28793190 28793190 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023923.3 +1 reviewed p.A255V 1.000 169 0% 93 37.6% - - benign(0.058) tolerated(0.34) neutral(0.026) NULL GMEB1 10691 genome.wustl.edu 37 1 29041213 29041213 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006582.2 +1 reviewed p.E550D 1.000 107 0% 46 15.2% - - benign(0.404) tolerated(0.38) neutral(0.148) NULL EPB41 2035 genome.wustl.edu 37 1 29314319 29314319 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_203343.2 +1 reviewed p.E124* 1.000 175 0% 73 28.8% - - - - - NULL SRSF4 6429 genome.wustl.edu 37 1 29475125 29475125 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005626.4 -1 reviewed p.R428* 0.535 420 0% 309 32.7% - - - - - NULL PTPRU 10076 genome.wustl.edu 37 1 29606138 29606138 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005704.3 +1 reviewed p.A578 0.944 133 0.8% 97 44.3% - - - - - HMMPfam_fn3,superfamily_Fibronectin type III PTPRU 10076 genome.wustl.edu 37 1 29609321 29609321 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005704.3 +1 reviewed p.E668K 0.999 82 0% 59 49.2% - - probably_damaging(0.976) tolerated(0.08) deleterious(0.718) NULL LAPTM5 7805 genome.wustl.edu 37 1 31230535 31230535 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006762.2 -1 reviewed p.A20T 0.978 101 0% 77 31.2% - - probably_damaging(0.989) tolerated(0.09) deleterious(0.736) NULL PUM1 9698 genome.wustl.edu 37 1 31465300 31465300 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001020658.1 -1 reviewed p.T365 1.000 129 0% 87 40.2% - - - - - NULL PUM1 9698 genome.wustl.edu 37 1 31465335 31465335 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001020658.1 -1 reviewed p.G354S 1.000 130 0% 94 39.4% - - probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL PUM1 9698 genome.wustl.edu 37 1 31467908 31467908 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001020658.1 -1 reviewed p.D294Y 1.000 643 0% 381 26.8% - - probably_damaging(0.961) deleterious(0) deleterious(0.849) NULL ZCCHC17 51538 genome.wustl.edu 37 1 31810034 31810034 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016505.2 +1 provisional p.R46Q 1.000 516 0% 255 37.3% - - benign(0.304) tolerated(0.27) neutral(0.128) HMMPfam_S1,superfamily_Nucleic acid-binding proteins,HMMSmart_SM00316 FABP3 2170 genome.wustl.edu 37 1 31845811 31845811 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004102.3 -1 reviewed p.F17 1.000 95 0% 80 22.5% - - - - - PatternScan_FABP,HMMPfam_Lipocalin,superfamily_Lipocalins KPNA6 23633 genome.wustl.edu 37 1 32636340 32636340 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012316.4 +1 reviewed p.E486K 1.000 170 0% 95 36.8% - - benign(0.334) tolerated(0.1) neutral(0.391) superfamily_ARM repeat CCDC28B 79140 genome.wustl.edu 37 1 32669839 32669839 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024296.3 +1 reviewed p.K128N 1.000 266 0% 179 35.2% - - probably_damaging(0.954) deleterious(0.02) deleterious(0.780) NULL ZBTB8A 653121 genome.wustl.edu 37 1 33060819 33060819 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040441.1 +1 validated p.R330* 1.000 285 0% 212 34.9% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SYNC 81493 genome.wustl.edu 37 1 33160799 33160799 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030786.2 -1 reviewed p.E300 0.912 51 0% 46 47.8% - - - - - NULL SYNC 81493 genome.wustl.edu 37 1 33161533 33161533 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030786.2 -1 reviewed p.E56K 1.000 263 0% 176 30.1% - - possibly_damaging(0.798) deleterious(0) deleterious(0.745) NULL RNF19B 127544 genome.wustl.edu 37 1 33415182 33415182 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153341.2 -1 validated p.E277* 1.000 202 0% 156 35.3% - - - - - HMMSmart_SM00647 AK2 204 genome.wustl.edu 37 1 33487293 33487293 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001625.2 -1 reviewed p.E77D 1.000 132 0% 57 49.1% - - benign(0.001) tolerated(0.62) neutral(0.004) HMMPfam_ADK,superfamily_P-loop containing nucleoside triphosphate hydrolases ZSCAN20 7579 genome.wustl.edu 37 1 33958976 33958976 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145238.3 +1 validated p.R545Q 1.000 105 0% 71 31% - - probably_damaging(0.999) tolerated(0.28) deleterious(0.522) HMMSmart_SM00717 CSMD2 114784 genome.wustl.edu 37 1 33990513 33990513 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052896.3 -1 validated p.I3311 0.558 303 0% 175 32.6% - - - - - NULL CSMD2 114784 genome.wustl.edu 37 1 34002635 34002635 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052896.3 -1 validated p.S3145Y 1.000 250 0% 110 35.5% - - possibly_damaging(0.952) deleterious(0.01) deleterious(0.801) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain ZMYM1 79830 genome.wustl.edu 37 1 35578947 35578947 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024772.3 +1 validated p.T506A 1.000 55 0% 35 42.9% - - benign(0.21) tolerated(1) neutral(0.021) HMMSmart_ZnF_TTF ZMYM4 9202 genome.wustl.edu 37 1 35851752 35851752 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005095.2 +1 validated p.R600C 1.000 336 0% 159 38.4% - - possibly_damaging(0.612) tolerated(0.16) neutral(0.271) HMMPfam_zf-FCS,HMMSmart_SM00746 ZMYM4 9202 genome.wustl.edu 37 1 35863016 35863016 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000457946 +1 known p.*682R 0.975 222 0% 146 33.6% - - - - - NULL CLSPN 63967 genome.wustl.edu 37 1 36212389 36212389 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022111.2 -1 reviewed p.C944 0.999 472 0% 280 11.4% - - - - - NULL EIF2C3 192669 genome.wustl.edu 37 1 36439108 36439108 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024852.2 +1 reviewed p.I218 0.999 298 0% 133 22.6% - - - - - HMMPfam_DUF1785 THRAP3 9967 genome.wustl.edu 37 1 36752491 36752491 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005119.3 +1 validated p.S220 0.060 95 0% 35 25.7% - - - - - NULL THRAP3 9967 genome.wustl.edu 37 1 36762369 36762369 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005119.3 +1 validated p.Q767 1.000 304 0% 100 33% - - - - - NULL STK40 83931 genome.wustl.edu 37 1 36808899 36808899 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000359297 -1 known p.R385S 0.018 98 0% 54 35.2% - - unknown(0) tolerated(0.08) - NULL GRIK3 2899 genome.wustl.edu 37 1 37282864 37282864 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000831.3 -1 reviewed p.P630S 1.000 258 0.4% 166 36.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 MTF1 4520 genome.wustl.edu 37 1 38304324 38304324 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005955.2 -1 reviewed p.R251Q 1.000 408 0% 240 33.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SF3A3 10946 genome.wustl.edu 37 1 38435065 38435065 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006802.2 -1 reviewed p.Y414 1.000 377 0% 216 33.8% - - - - - NULL RRAGC 64121 genome.wustl.edu 37 1 39321513 39321513 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022157.2 -1 provisional p.D170Y 1.000 295 0.3% 177 34.5% - - benign(0.148) deleterious(0.03) neutral(0.378) HMMPfam_Gtr1_RagA,superfamily_SSF52540 RHBDL2 54933 genome.wustl.edu 37 1 39384830 39384830 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017821.3 -1 reviewed p.E19* 0.002 548 0% 342 38% - - - - - NULL NDUFS5 4725 genome.wustl.edu 37 1 39494601 39494601 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004552.2 +1 reviewed p.R69W 0.998 288 0% 141 41.1% - - benign(0.058) deleterious(0) neutral(0.448) HMMPfam_Ndufs5 MACF1 23499 genome.wustl.edu 37 1 39750856 39750856 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012090.3 +1 reviewed p.E416D 1.000 571 0% 330 16.4% - - probably_damaging(0.988) tolerated(0.06) deleterious(0.760) superfamily_Spectrin repeat MACF1 23499 genome.wustl.edu 37 1 39765917 39765917 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012090.3 +1 reviewed p.S844 0.003 445 0% 231 32.5% - - - - - superfamily_Spectrin repeat MACF1 23499 genome.wustl.edu 37 1 39775998 39775998 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012090.3 +1 reviewed p.R1005C 0.989 300 0% 164 29.9% - - possibly_damaging(0.943) deleterious(0.01) deleterious(0.793) superfamily_Spectrin repeat MACF1 23499 genome.wustl.edu 37 1 39797658 39797658 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033044.2 +1 reviewed p.A240S 1.000 171 0.6% 113 40.7% - - probably_damaging(0.971) - - HMMPfam_Plectin,HMMSmart_PLEC,superfamily_SSF75399 MACF1 23499 genome.wustl.edu 37 1 39799331 39799331 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033044.2 +1 reviewed p.E797D 1.000 152 0% 79 32.9% - - possibly_damaging(0.787) - - HMMSmart_PLEC,superfamily_SSF75399 MACF1 23499 genome.wustl.edu 37 1 39801531 39801531 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033044.2 +1 reviewed p.R1531* 0.003 80 0% 33 18.2% - - - - - NULL MACF1 23499 genome.wustl.edu 37 1 39844924 39844924 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000372925 +1 known p.E1493* 0.999 235 0% 101 34.7% - - benign(0.006) tolerated(0.14) neutral(0.249) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat MACF1 23499 genome.wustl.edu 37 1 39914355 39914355 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000372925 +1 known p.R3671* 0.239 277 0% 123 34.1% - - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat PABPC4 8761 genome.wustl.edu 37 1 40041582 40041582 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135653.1 -1 reviewed p.Y14 1.000 18 0% 17 29.4% - - - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 NT5C1A 84618 genome.wustl.edu 37 1 40131251 40131251 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032526.1 -1 provisional p.L125 0.010 143 0% 127 33.1% - - - - - HMMPfam_5-nucleotidase PPIE 10450 genome.wustl.edu 37 1 40214724 40214724 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006112.2 +1 reviewed p.D220N 1.000 169 0.6% 84 14.3% - - benign(0.077) tolerated(0.47) neutral(0.017) HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like MYCL1 4610 genome.wustl.edu 37 1 40363540 40363540 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001033081.2 -1 validated p.M200T 1.000 234 0% 134 32.8% - - probably_damaging(0.954) tolerated(0.14) deleterious(0.647) HMMPfam_Myc_N MFSD2A 84879 genome.wustl.edu 37 1 40433338 40433338 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136493.1 +1 validated p.F363L 1.000 487 0% 253 24.9% - - benign(0.01) tolerated(0.91) neutral(0.001) HMMPfam_MFS_1,superfamily_MFS general substrate transporter CAP1 10487 genome.wustl.edu 37 1 40535491 40535491 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105530.1 +1 reviewed p.R313Q 0.992 312 0% 145 32.4% - - benign(0.002) tolerated(0.37) neutral(0.019) NULL RLF 6018 genome.wustl.edu 37 1 40661412 40661412 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012421.3 +1 validated p.Q195* 1.000 185 0% 133 10.5% - - - - - NULL TMCO2 127391 genome.wustl.edu 37 1 40717052 40717052 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008740.3 +1 validated p.R112Q 0.000 240 0% 115 21.7% - - benign(0.058) tolerated(0.59) neutral(0.008) NULL ZMPSTE24 10269 genome.wustl.edu 37 1 40756564 40756564 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005857.3 +1 reviewed p.L366F 0.999 696 0% 366 37.4% - - benign(0.067) tolerated(0.06) neutral(0.327) HMMPfam_Peptidase_M48 SMAP2 64744 genome.wustl.edu 37 1 40875439 40875439 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022733.1 +1 provisional p.G112R 1.000 371 0% 202 25.2% - - probably_damaging(0.983) tolerated(0.35) neutral(0.450) HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain ZNF643 65243 genome.wustl.edu 37 1 40929140 40929140 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000411995 +1 known p.E468* 0.999 188 0.5% 95 42.1% - - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DEM1 64789 genome.wustl.edu 37 1 40981249 40981249 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022774.1 +1 provisional p.T345A 0.060 88 0% 49 36.7% - - benign(0.002) tolerated(0.41) neutral(0.015) HMMPfam_Morph_protein1 KCNQ4 9132 genome.wustl.edu 37 1 41285896 41285896 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000509682 +1 known p.R255* 0.986 79 1.3% 52 34.6% - - - - - superfamily_Voltage-gated potassium channels KCNQ4 9132 genome.wustl.edu 37 1 41303994 41303994 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000509682 +1 known p.R495* 1.000 48 0% 40 25% - - - - - HMMPfam_KCNQ_channel CTPS 1503 genome.wustl.edu 37 1 41463065 41463065 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001905.2 +1 validated e8-1 1.000 130 0% 83 34.9% - - - - - - SCMH1 22955 genome.wustl.edu 37 1 41499701 41499701 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031694.2 -1 validated p.N556 0.111 377 0% 259 33.6% - - - - - NULL FOXJ3 22887 genome.wustl.edu 37 1 42657345 42657345 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014947.3 -1 validated p.S327* 1.000 947 0.1% 534 30% - - - - - NULL FOXJ3 22887 genome.wustl.edu 37 1 42660606 42660606 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014947.3 -1 validated p.R297W 1.000 448 0% 241 31.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC30 728621 genome.wustl.edu 37 1 43110467 43110467 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080850.2 +1 validated p.R627C 0.000 251 0% 155 12.3% - - probably_damaging(0.994) tolerated(0.17) deleterious(0.511) NULL WDR65 149465 genome.wustl.edu 37 1 43638490 43638490 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152498.3 +1 validated p.I22 0.998 224 0% 159 37.1% - - - - - NULL WDR65 149465 genome.wustl.edu 37 1 43638511 43638511 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152498.3 +1 validated p.I29 0.098 231 0% 134 35.1% - - - - - NULL WDR65 149465 genome.wustl.edu 37 1 43665147 43665147 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152498.3 +1 validated p.I505 0.583 321 0% 205 41% - - - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 MPL 4352 genome.wustl.edu 37 1 43805739 43805739 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005373.2 +1 reviewed p.L265 0.708 129 0.8% 97 38.1% - - - - - superfamily_Fibronectin type III ST3GAL3 6487 genome.wustl.edu 37 1 44257776 44257776 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_174963.2 +1 reviewed p.S56* 1.000 463 0% 233 39.5% - - - - - NULL ST3GAL3 6487 genome.wustl.edu 37 1 44360121 44360121 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_174963.2 +1 reviewed p.F192 0.998 280 0% 156 37.2% - - unknown(0) deleterious(0.03) - HMMPfam_Glyco_transf_29 IPO13 9670 genome.wustl.edu 37 1 44422916 44422916 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014652.3 +1 reviewed p.E441K 1.000 96 0% 46 47.8% - - possibly_damaging(0.848) tolerated(0.27) neutral(0.359) superfamily_ARM-type_fold CCDC24 149473 genome.wustl.edu 37 1 44461300 44461300 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152499.1 +1 provisional p.P194S 0.002 51 0% 37 18.9% - - benign(0.135) tolerated(0.35) neutral(0.032) NULL SLC6A9 6536 genome.wustl.edu 37 1 44466898 44466898 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_201649.2 -1 validated p.T498A 1.000 204 0% 121 35.5% - - benign(0.003) tolerated(0.74) neutral(0.002) HMMPfam_SNF SLC6A9 6536 genome.wustl.edu 37 1 44468262 44468262 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_201649.2 -1 validated p.R333 0.002 104 0% 110 34.5% - - - - - HMMPfam_SNF C1orf228 339541 genome.wustl.edu 37 1 45189803 45189803 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145636.1 +1 validated p.L245S 1.000 124 0% 88 34.1% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_ARM repeat KIF2C 11004 genome.wustl.edu 37 1 45216193 45216193 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006845.3 +1 validated p.E132 0.854 69 0% 77 50.6% - - - - - NULL KIF2C 11004 genome.wustl.edu 37 1 45221766 45221766 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006845.3 +1 validated p.I278 1.000 247 0% 175 34.3% - - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF2C 11004 genome.wustl.edu 37 1 45232824 45232824 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006845.3 +1 validated p.Q717H 1.000 273 0% 128 40.6% - - benign(0.014) deleterious(0.01) neutral(0.406) NULL PTCH2 8643 genome.wustl.edu 37 1 45288829 45288829 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003738.4 -1 reviewed p.A1090V 1.000 170 0.6% 141 31.2% - - benign(0.001) tolerated(0.5) neutral(0.010) HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain PTCH2 8643 genome.wustl.edu 37 1 45295695 45295695 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003738.4 -1 reviewed p.N274S 1.000 74 0% 44 38.6% - - benign(0) deleterious(0.03) neutral(0.364) HMMPfam_Patched EIF2B3 8891 genome.wustl.edu 37 1 45444090 45444090 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020365.3 -1 reviewed p.C64Y 0.685 491 0% 282 35.5% - - benign(0) tolerated(0.12) neutral(0.261) superfamily_Nucleotide-diphospho-sugar transferases HECTD3 79654 genome.wustl.edu 37 1 45469790 45469790 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024602.5 -1 validated p.F763 0.995 168 0% 142 39.4% - - - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain UROD 7389 genome.wustl.edu 37 1 45481160 45481160 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000374.3 +1 reviewed p.R365Q 0.385 151 0% 120 35% - - possibly_damaging(0.73) deleterious(0.02) deleterious(0.649) superfamily_UROD/MetE-like ZSWIM5 57643 genome.wustl.edu 37 1 45553826 45553826 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020883.1 -1 validated p.R227* 1.000 173 0% 92 35.9% - - - - - HMMPfam_SWIM HPDL 84842 genome.wustl.edu 37 1 45793352 45793352 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032756.2 +1 validated p.R178C 0.998 21 0% 15 26.7% - - probably_damaging(0.985) deleterious(0.01) deleterious(0.838) superfamily_Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase TOE1 114034 genome.wustl.edu 37 1 45809317 45809317 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025077.3 +1 validated p.F492L 1.000 122 0% 80 42.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL NASP 4678 genome.wustl.edu 37 1 46073249 46073249 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172164.1 +1 reviewed p.P224 0.029 65 0% 28 32.1% - - - - - superfamily_SSF48452 GPBP1L1 60313 genome.wustl.edu 37 1 46120874 46120874 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021639.4 -1 validated p.R60* 1.000 184 0% 108 37% - - - - - NULL PIK3R3 8503 genome.wustl.edu 37 1 46509395 46509395 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001114172.1 -1 validated p.V446I 1.000 394 0.3% 246 34.1% - - possibly_damaging(0.934) deleterious(0.04) deleterious(0.729) superfamily_SH2 domain PIK3R3 8503 genome.wustl.edu 37 1 46531836 46531836 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001114172.1 -1 validated p.E171* 1.000 426 0% 178 40.4% - - - - - NULL LRRC41 10489 genome.wustl.edu 37 1 46751281 46751281 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006369.4 -1 validated p.F416 1.000 232 0% 104 35.6% - - - - - NULL NSUN4 387338 genome.wustl.edu 37 1 46806569 46806569 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199044.2 +1 validated p.R24I 0.929 54 0% 36 11.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAAH 2166 genome.wustl.edu 37 1 46876526 46876526 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001441.2 +1 reviewed p.R439H 1.000 215 0% 134 32.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Amidase,superfamily_Amidase_sig_enz FAAH 2166 genome.wustl.edu 37 1 46877286 46877286 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001441.2 +1 reviewed p.S440L 0.984 126 0% 108 31.5% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_Amidase,superfamily_Amidase_sig_enz CYP4A22 284541 genome.wustl.edu 37 1 47611554 47611554 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010969.2 +1 reviewed p.L413 0.798 665 0% 358 37.2% - - - - - HMMPfam_p450,superfamily_Cytochrome P450 PDZK1IP1 10158 genome.wustl.edu 37 1 47649649 47649649 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005764.3 -1 validated p.P113 1.000 228 0% 133 29.3% - - - - - NULL PDZK1IP1 10158 genome.wustl.edu 37 1 47650691 47650691 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005764.3 -1 validated p.S85 0.026 273 0% 173 34.7% - - - - - NULL STIL 6491 genome.wustl.edu 37 1 47746247 47746247 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001048166.1 -1 reviewed p.S628F 0.001 195 0% 138 37.7% - - possibly_damaging(0.915) deleterious(0.01) deleterious(0.772) NULL STIL 6491 genome.wustl.edu 37 1 47746274 47746274 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001048166.1 -1 reviewed p.S619Y 0.992 197 0% 140 32.9% - - possibly_damaging(0.915) deleterious(0.01) deleterious(0.772) NULL SLC5A9 200010 genome.wustl.edu 37 1 48708252 48708252 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135181.1 +1 validated p.A626T 0.000 45 0% 37 37.8% - - benign(0) tolerated(0.59) neutral(0.004) NULL SPATA6 54558 genome.wustl.edu 37 1 48825413 48825413 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019073.1 -1 provisional p.F313 0.003 142 0.7% 84 42.9% - - - - - NULL AGBL4 84871 genome.wustl.edu 37 1 49052784 49052784 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032785.3 -1 validated p.L387I 1.000 125 0% 58 32.8% - - possibly_damaging(0.892) tolerated(0.23) neutral(0.393) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases BEND5 79656 genome.wustl.edu 37 1 49202048 49202048 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024603.2 -1 validated p.Y324C 1.000 413 0% 270 38.5% - - possibly_damaging(0.66) deleterious(0) deleterious(0.677) HMMPfam_BEN FAF1 11124 genome.wustl.edu 37 1 51210448 51210448 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007051.2 -1 reviewed e5-1 1.000 343 0% 201 18.9% - - - - - - CDKN2C 1031 genome.wustl.edu 37 1 51439761 51439761 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001262.2 +1 reviewed p.L109S 1.000 171 0% 97 10.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat C1orf185 284546 genome.wustl.edu 37 1 51584360 51584360 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136508.1 +1 predicted p.F49V 0.001 141 0% 75 44% - - possibly_damaging(0.454) deleterious(0) deleterious(0.593) NULL RNF11 26994 genome.wustl.edu 37 1 51735722 51735722 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014372.4 +1 reviewed p.R73I 1.000 211 0% 74 28.4% - - possibly_damaging(0.773) deleterious(0) deleterious(0.732) NULL TTC39A 22996 genome.wustl.edu 37 1 51753908 51753908 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144832.1 -1 validated p.R556Q 1.000 539 0% 428 41.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL OSBPL9 114883 genome.wustl.edu 37 1 52246872 52246872 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000447887 +1 known p.S448P 0.996 325 0% 201 35.3% - - - - - HMMPfam_Oxysterol_BP NRD1 4898 genome.wustl.edu 37 1 52344197 52344197 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002525.2 -1 validated p.E31K 0.000 70 1.4% 55 29.1% - - benign(0) tolerated(0.07) neutral(0.319) NULL ZFYVE9 9372 genome.wustl.edu 37 1 52704037 52704037 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004799.2 +1 reviewed p.G316 0.000 126 0% 50 36% - - - - - NULL CC2D1B 200014 genome.wustl.edu 37 1 52821327 52821327 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032449.1 -1 validated p.D720N 0.998 161 0% 79 36.7% - - benign(0) tolerated(1) - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CC2D1B 200014 genome.wustl.edu 37 1 52824424 52824424 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032449.1 -1 validated p.Q422K 1.000 180 0% 104 12.5% - - possibly_damaging(0.882) deleterious(0.02) deleterious(0.728) HMMSmart_SM00685 ZCCHC11 23318 genome.wustl.edu 37 1 52991555 52991555 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009881.1 -1 validated p.K133T 0.999 534 0% 242 37.6% - - possibly_damaging(0.477) tolerated(0.05) deleterious(0.503) NULL GPX7 2882 genome.wustl.edu 37 1 53072580 53072580 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015696.4 +1 validated p.T121 0.190 161 0% 122 41% - - - - - HMMPfam_GSHPx,superfamily_Thiordxn-like_fd FAM159A 348378 genome.wustl.edu 37 1 53122677 53122677 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042693.1 +1 validated p.V180L 0.586 135 0% 77 14.3% - - possibly_damaging(0.792) deleterious(0) deleterious(0.742) NULL ZYG11B 79699 genome.wustl.edu 37 1 53282302 53282302 + Splice_Site SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024646.2 +1 validated e13+1 1.000 263 0% 140 40.7% - - - - - - SCP2 6342 genome.wustl.edu 37 1 53443889 53443889 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002979.3 +1 reviewed p.C225 0.985 217 0% 128 35.9% - - - - - HMMPfam_Thiolase_N,superfamily_Thiolase-like SCP2 6342 genome.wustl.edu 37 1 53446158 53446158 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002979.3 +1 reviewed p.D306N 1.000 356 0% 137 38.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Thiolase_C,superfamily_Thiolase-like PODN 127435 genome.wustl.edu 37 1 53542922 53542922 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153703.3 +1 validated p.N262 0.850 67 0% 39 23.1% - - - - - HMMPfam_LRR_1,superfamily_SSF52058 SLC1A7 6512 genome.wustl.edu 37 1 53556395 53556395 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006671.4 -1 validated p.V372A 1.000 128 0% 98 31.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SDF,PatternScan_NA_DICARBOXYL_SYMP_2 TMEM48 55706 genome.wustl.edu 37 1 54266435 54266435 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018087.4 -1 validated p.E385* 1.000 335 0% 194 39.7% - - - - - HMMPfam_Ndc1_Nup YIPF1 54432 genome.wustl.edu 37 1 54337097 54337097 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018982.3 -1 provisional p.F143L 1.000 185 0% 88 40.9% - - benign(0.163) deleterious(0.04) neutral(0.363) HMMPfam_Yip1 MRPL37 51253 genome.wustl.edu 37 1 54666157 54666157 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016491.3 +1 reviewed p.G81S 0.979 36 0% 31 41.9% - - benign(0.004) tolerated(0.14) neutral(0.249) NULL ACOT11 26027 genome.wustl.edu 37 1 55069559 55069559 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015547.2 +1 reviewed p.S367 1.000 88 0% 43 39.5% - - - - - NULL FAM151A 338094 genome.wustl.edu 37 1 55075349 55075349 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_176782.2 -1 validated p.G450 0.176 54 0% 61 32.8% - - - - - NULL HEATR8 374977 genome.wustl.edu 37 1 55145675 55145675 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039464.2 +1 validated p.E780K 0.999 64 0% 61 31.1% - - possibly_damaging(0.942) deleterious(0.02) deleterious(0.770) superfamily_ARM repeat HEATR8 374977 genome.wustl.edu 37 1 55158151 55158151 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039464.2 +1 validated p.E922D 0.866 178 0% 96 32.3% - - possibly_damaging(0.942) tolerated(0.35) neutral(0.408) superfamily_ARM repeat HEATR8 374977 genome.wustl.edu 37 1 55166953 55166953 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039464.2 +1 validated p.V1081 0.921 159 0% 117 36.8% - - - - - superfamily_ARM repeat PARS2 25973 genome.wustl.edu 37 1 55223619 55223619 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152268.3 -1 validated p.G406R 0.938 131 0% 132 40.9% - - probably_damaging(0.98) tolerated(0.24) neutral(0.461) HMMPfam_HGTP_anticodon,superfamily_Anticodon-binding domain of Class II aaRS USP24 23358 genome.wustl.edu 37 1 55589185 55589185 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015306.2 -1 validated p.S1244L 0.996 168 0% 122 35.2% - - benign(0.002) tolerated(0.33) neutral(0.024) NULL USP24 23358 genome.wustl.edu 37 1 55590163 55590163 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015306.2 -1 validated p.R1207* 1.000 185 0% 114 42.1% - - - - - NULL PRKAA2 5563 genome.wustl.edu 37 1 57140093 57140093 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006252.3 +1 validated p.K45R 1.000 185 0% 88 29.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase PRKAA2 5563 genome.wustl.edu 37 1 57157092 57157092 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006252.3 +1 validated p.D88Y 1.000 373 0% 164 23.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase C8A 731 genome.wustl.edu 37 1 57349331 57349331 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000562.2 +1 reviewed p.E278K 0.004 143 0% 60 38.3% - - benign(0) tolerated(1) - HMMPfam_MACPF C8A 731 genome.wustl.edu 37 1 57351676 57351676 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000562.2 +1 reviewed p.D311G 1.000 191 0% 91 34.1% - - probably_damaging(0.99) tolerated(0.15) deleterious(0.682) HMMPfam_MACPF,HMMSmart_MACPF DAB1 1600 genome.wustl.edu 37 1 57602267 57602267 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021080.3 -1 reviewed p.I85 1.000 331 0% 180 37.8% - - - - - HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like OMA1 115209 genome.wustl.edu 37 1 59004633 59004633 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145243.3 -1 provisional p.E112* 0.000 254 0% 149 35.6% - - - - - NULL TACSTD2 4070 genome.wustl.edu 37 1 59042031 59042031 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002353.2 -1 reviewed p.P266 0.016 85 0% 74 43.2% - - - - - NULL MYSM1 114803 genome.wustl.edu 37 1 59147935 59147935 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001085487.1 -1 provisional p.E261* 0.005 161 0% 123 36.6% - - - - - NULL HOOK1 51361 genome.wustl.edu 37 1 60294487 60294487 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000371208 +1 known p.R62Q 1.000 471 0% 184 11.4% - - probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_HOOK HOOK1 51361 genome.wustl.edu 37 1 60305991 60305991 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000371208 +1 known p.A183 0.409 292 0% 138 30.4% - - - - - HMMPfam_HOOK HOOK1 51361 genome.wustl.edu 37 1 60309246 60309246 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000371208 +1 known p.E255G 1.000 162 0% 71 40.8% - - possibly_damaging(0.867) deleterious(0) deleterious(0.781) HMMPfam_HOOK,superfamily_Prefoldin HOOK1 51361 genome.wustl.edu 37 1 60314041 60314041 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000371208 +1 known p.Q328H 1.000 174 0% 67 47.8% - - benign(0.223) deleterious(0.01) neutral(0.428) HMMPfam_HOOK HOOK1 51361 genome.wustl.edu 37 1 60338599 60338599 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000371208 +1 known p.N717H 0.898 91 0% 38 31.6% - - possibly_damaging(0.565) deleterious(0.01) deleterious(0.599) HMMPfam_HOOK INADL 10207 genome.wustl.edu 37 1 62327232 62327232 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_176877.2 +1 reviewed p.E778* 0.998 100 0% 50 32% - - - - - NULL INADL 10207 genome.wustl.edu 37 1 62593692 62593692 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_176877.2 +1 reviewed p.P1698S 1.000 295 0% 154 33.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like L1TD1 54596 genome.wustl.edu 37 1 62672944 62672944 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019079.4 +1 validated p.R215I 0.000 146 0% 41 58.5% - - unknown(0) deleterious(0) - NULL L1TD1 54596 genome.wustl.edu 37 1 62675646 62675646 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019079.4 +1 validated p.T400 0.000 134 0.7% 57 35.1% - - - - - NULL L1TD1 54596 genome.wustl.edu 37 1 62676465 62676465 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019079.4 +1 validated p.F673L 0.000 134 0% 44 45.5% - - benign(0.101) tolerated(0.95) neutral(0.007) HMMPfam_Transposase_22 L1TD1 54596 genome.wustl.edu 37 1 62676979 62676979 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019079.4 +1 validated p.E845* 0.093 74 0% 36 38.9% - - - - - HMMPfam_Transposase_22 KANK4 163782 genome.wustl.edu 37 1 62728833 62728833 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181712.4 -1 validated p.G824R 1.000 184 0% 79 41.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat KANK4 163782 genome.wustl.edu 37 1 62739866 62739866 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181712.4 -1 validated p.E304K 0.998 179 0% 99 39.4% - - possibly_damaging(0.918) tolerated(0.1) deleterious(0.655) NULL DOCK7 85440 genome.wustl.edu 37 1 62993879 62993879 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000454575 -1 known p.R465C 0.780 270 0% 145 32.4% - - - - - NULL DOCK7 85440 genome.wustl.edu 37 1 63005433 63005433 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033407.2 -1 validated p.R1028Q 1.000 153 0% 78 30.8% - - probably_damaging(0.97) tolerated(0.09) deleterious(0.709) NULL DOCK7 85440 genome.wustl.edu 37 1 63018423 63018423 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033407.2 -1 validated p.R916* 0.998 175 0.6% 104 40.4% - - - - - NULL DOCK7 85440 genome.wustl.edu 37 1 63052296 63052296 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033407.2 -1 validated e15-1 1.000 310 0% 175 38.9% - - - - - - ATG4C 84938 genome.wustl.edu 37 1 63269479 63269479 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032852.2 +1 reviewed p.E8* 1.000 202 0% 102 40.2% - - - - - NULL ATG4C 84938 genome.wustl.edu 37 1 63329670 63329670 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032852.2 +1 reviewed p.K406I 0.928 139 0% 93 38.7% - - benign(0.039) tolerated(0.49) neutral(0.013) NULL PGM1 5236 genome.wustl.edu 37 1 64097386 64097386 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002633.2 +1 reviewed p.F205L 1.000 262 0% 167 32.3% - - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) HMMPfam_PGM_PMM_II,superfamily_Phosphoglucomutase first 3 domains CACHD1 57685 genome.wustl.edu 37 1 65141661 65141661 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020925.2 +1 validated p.E939D 1.000 108 0% 50 30% - - benign(0.041) tolerated(0.45) neutral(0.015) NULL CACHD1 57685 genome.wustl.edu 37 1 65146953 65146953 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020925.2 +1 validated p.R1089H 1.000 428 0.2% 274 35.8% - - probably_damaging(1) tolerated(0.15) deleterious(0.741) NULL LEPROT 54741 genome.wustl.edu 37 1 65895679 65895679 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017526.3 +1 validated p.G76E 1.000 1043 0% 519 35.3% - - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_Vps55 PDE4B 5142 genome.wustl.edu 37 1 66828886 66828886 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001037341.1 +1 reviewed p.I352 1.000 302 0% 116 28.4% - - - - - superfamily_HD-domain/PDEase-like PDE4B 5142 genome.wustl.edu 37 1 66831424 66831424 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001037341.1 +1 reviewed p.V453 1.000 260 0% 167 20.4% - - - - - HMMPfam_PDEase_I,PatternScan_PDEASE_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like SGIP1 84251 genome.wustl.edu 37 1 67109251 67109251 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032291.2 +1 validated p.S103Y 1.000 197 0% 122 31.1% - - probably_damaging(1) tolerated(0.18) deleterious(0.556) NULL SGIP1 84251 genome.wustl.edu 37 1 67195044 67195044 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032291.2 +1 validated p.R614W 1.000 355 0% 175 37.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SAFF SGIP1 84251 genome.wustl.edu 37 1 67207009 67207009 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032291.2 +1 validated p.S785Y 1.000 286 0% 178 28.1% - - possibly_damaging(0.893) deleterious(0) deleterious(0.796) NULL C1orf141 400757 genome.wustl.edu 37 1 67591445 67591445 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013674.1 -1 predicted p.K75E 0.004 721 0% 397 41.6% - - possibly_damaging(0.866) tolerated(0.28) neutral(0.367) NULL IL23R 149233 genome.wustl.edu 37 1 67724616 67724616 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144701.2 +1 reviewed p.N565K 0.001 99 0% 59 27.1% - - benign(0.224) deleterious(0.01) neutral(0.428) NULL SERBP1 26135 genome.wustl.edu 37 1 67890841 67890841 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001018067.1 -1 validated p.R177H 1.000 272 0% 97 37.1% - - probably_damaging(1) tolerated(0.26) deleterious(0.534) NULL WLS 79971 genome.wustl.edu 37 1 68697907 68697907 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001002292.2 -1 validated p.I26F 0.995 373 0% 182 37.4% - - benign(0) tolerated(0.2) neutral(0.049) NULL DEPDC1 55635 genome.wustl.edu 37 1 68948516 68948516 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001114120.1 -1 validated p.P325 1.000 156 0% 73 30.1% - - - - - superfamily_Rho_GAP LRRC7 57554 genome.wustl.edu 37 1 70504377 70504377 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020794.2 +1 validated p.S919F 1.000 106 0% 60 28.3% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL LRRC40 55631 genome.wustl.edu 37 1 70618139 70618139 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017768.4 -1 validated p.Q472 0.178 195 0% 67 25.4% - - - - - superfamily_SSF52058 LRRC40 55631 genome.wustl.edu 37 1 70639166 70639166 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017768.4 -1 validated p.L365I 1.000 204 0% 86 32.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CTH 1491 genome.wustl.edu 37 1 70887300 70887300 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001902.4 +1 reviewed p.S133Y 1.000 518 0% 262 35.1% - - possibly_damaging(0.455) deleterious(0.01) deleterious(0.554) HMMPfam_Cys_Met_Meta_PP,superfamily_PLP-dependent transferases PTGER3 5733 genome.wustl.edu 37 1 71478168 71478168 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198718.1 -1 reviewed e2-1 1.000 130 0% 78 12.8% - - - - - - ZRANB2 9406 genome.wustl.edu 37 1 71534983 71534983 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_203350.1 -1 validated p.S249L 1.000 215 0% 112 70.5% - - unknown(0) tolerated(0.09) - NULL NEGR1 257194 genome.wustl.edu 37 1 72400932 72400932 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173808.2 -1 validated p.A80V 1.000 344 0% 173 39.3% - - probably_damaging(0.998) tolerated(0.31) deleterious(0.501) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 LRRIQ3 127255 genome.wustl.edu 37 1 74507089 74507089 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105659.1 -1 provisional p.S509F 0.000 137 0% 75 26.7% - - possibly_damaging(0.548) deleterious(0) deleterious(0.631) NULL TNNI3K 51086 genome.wustl.edu 37 1 74808843 74808843 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001112808.1 +1 validated p.F405 1.000 239 0% 140 32.9% - - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat SLC44A5 204962 genome.wustl.edu 37 1 75702739 75702739 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152697.4 -1 validated p.L225I 0.700 217 0% 85 31.8% - - benign(0.012) tolerated(0.22) neutral(0.043) NULL SLC44A5 204962 genome.wustl.edu 37 1 75740692 75740692 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152697.4 -1 validated p.P71S 1.000 181 0% 87 39.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ACADM 34 genome.wustl.edu 37 1 76226898 76226898 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127328.1 +1 reviewed p.S350Y 0.016 309 0% 152 40.1% - - benign(0.295) deleterious(0) deleterious(0.536) HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like RABGGTB 5876 genome.wustl.edu 37 1 76253277 76253277 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004582.2 +1 provisional p.K33N 1.000 308 0% 161 41.6% - - benign(0.011) tolerated(0.27) neutral(0.034) superfamily_Terpenoid cyclases/Protein prenyltransferases MSH4 4438 genome.wustl.edu 37 1 76288207 76288207 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002440.2 +1 validated p.R368I 1.000 164 0.6% 71 35.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MutS_III,HMMSmart_MUTSd,superfamily_DNA_repair_MutS_domIII MSH4 4438 genome.wustl.edu 37 1 76355016 76355016 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002440.2 +1 validated p.E730K 1.000 133 0% 76 27.6% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_MutS_V,HMMSmart_MUTSac,superfamily_SSF52540 MSH4 4438 genome.wustl.edu 37 1 76378515 76378515 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002440.2 +1 validated p.K918N 1.000 166 0% 43 27.9% - - benign(0.183) tolerated(0.37) neutral(0.036) NULL PIGK 10026 genome.wustl.edu 37 1 77672385 77672385 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005482.2 -1 reviewed p.R60Q 1.000 290 0% 90 31.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_C13 AK5 26289 genome.wustl.edu 37 1 77987619 77987619 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_174858.1 +1 reviewed p.F473 0.970 171 0% 75 37.3% - - - - - HMMPfam_ADK,superfamily_P-loop containing nucleoside triphosphate hydrolases ZZZ3 26009 genome.wustl.edu 37 1 78098918 78098918 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015534.4 -1 provisional p.S41Y 1.000 255 0% 149 31.5% - - possibly_damaging(0.677) deleterious(0.04) deleterious(0.590) NULL NEXN 91624 genome.wustl.edu 37 1 78383885 78383885 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144573.3 +1 reviewed p.R125Q 1.000 544 0% 154 36.4% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL NEXN 91624 genome.wustl.edu 37 1 78408308 78408308 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144573.3 +1 reviewed p.E608* 1.000 272 0% 154 38.3% - - - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin GIPC2 54810 genome.wustl.edu 37 1 78560637 78560637 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017655.4 +1 validated p.R143I 1.000 424 0% 194 35.6% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ GIPC2 54810 genome.wustl.edu 37 1 78560749 78560749 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017655.4 +1 validated p.K180N 0.999 559 0% 231 35.9% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ IFI44L 10964 genome.wustl.edu 37 1 79093889 79093889 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006820.2 +1 validated p.E97* 0.000 148 0% 70 35.7% - - - - - NULL IFI44 10561 genome.wustl.edu 37 1 79121183 79121183 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006417.4 +1 validated p.R276H 0.037 210 0.5% 107 37.4% - - probably_damaging(0.974) deleterious(0.01) deleterious(0.822) superfamily_SSF52540 ENSG00000249107 0 genome.wustl.edu 37 1 79129500 79129500 + RNA SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000513923 -1 known NULL 0.000 452 0% 240 28.7% - - - - - - ENSG00000249107 0 genome.wustl.edu 37 1 79129612 79129612 + RNA SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000513923 -1 known NULL 0.006 123 0% 71 35.2% - - - - - - ELTD1 64123 genome.wustl.edu 37 1 79385982 79385982 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022159.3 -1 validated p.F449L 1.000 342 0% 151 12.6% - - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMPfam_7tm_2 ELTD1 64123 genome.wustl.edu 37 1 79403873 79403873 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022159.3 -1 validated p.I163T 0.843 317 0% 133 37.6% - - benign(0.001) tolerated(0.06) neutral(0.323) PatternScan_EF_HAND_1 LPHN2 23266 genome.wustl.edu 37 1 82408979 82408979 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012302.2 +1 reviewed p.E242K 1.000 263 0% 179 20.7% - - benign(0.092) tolerated(0.07) neutral(0.326) HMMPfam_OLF,HMMSmart_SM00284 LPHN2 23266 genome.wustl.edu 37 1 82434986 82434986 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012302.2 +1 reviewed p.R866Q 1.000 495 0.2% 309 34.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_2 TTLL7 79739 genome.wustl.edu 37 1 84408303 84408303 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024686.4 -1 validated p.E189G 1.000 110 0% 60 43.3% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like TTLL7 79739 genome.wustl.edu 37 1 84412924 84412924 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024686.4 -1 validated p.R130Q 1.000 368 0% 189 31.7% - - benign(0.309) tolerated(0.1) neutral(0.383) HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like SAMD13 148418 genome.wustl.edu 37 1 84768895 84768896 + Frame_Shift_Ins INS - - A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010971.2 +1 validated p.E9fs 1.000:1.000 - - - - - - - - - NULL SSX2IP 117178 genome.wustl.edu 37 1 85116192 85116192 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014021.3 -1 reviewed p.L508R 0.165 175 0% 122 44.3% - - benign(0) tolerated(0.41) neutral(0.015) NULL MCOLN2 255231 genome.wustl.edu 37 1 85403521 85403521 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153259.2 -1 reviewed p.L418I 0.983 301 0% 133 33.1% - - benign(0.135) tolerated(0.51) neutral(0.020) HMMPfam_Ion_trans MCOLN2 255231 genome.wustl.edu 37 1 85424236 85424236 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153259.2 -1 reviewed p.E129D 0.986 144 0% 69 36.2% - - benign(0) tolerated(1) - NULL WDR63 126820 genome.wustl.edu 37 1 85573739 85573739 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145172.3 +1 validated p.R526I 0.999 222 0% 94 36.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_WD40 repeat-like SYDE2 84144 genome.wustl.edu 37 1 85643847 85643847 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032184.1 -1 validated p.D885Y 1.000 354 0% 153 30.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP SYDE2 84144 genome.wustl.edu 37 1 85648038 85648038 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032184.1 -1 validated p.T763A 1.000 237 0% 125 31.2% - - possibly_damaging(0.506) tolerated(0.09) neutral(0.466) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SYDE2 84144 genome.wustl.edu 37 1 85648160 85648160 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032184.1 -1 validated p.R722Q 1.000 188 0% 93 28% - - probably_damaging(0.972) deleterious(0.02) deleterious(0.797) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ZNHIT6 54680 genome.wustl.edu 37 1 86144391 86144391 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017953.3 -1 validated p.R388C 1.000 405 0% 178 30.9% - - possibly_damaging(0.843) deleterious(0.02) deleterious(0.706) NULL ZNHIT6 54680 genome.wustl.edu 37 1 86171989 86171989 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017953.3 -1 validated p.R258* 0.999 493 0% 283 25.1% - - - - - NULL COL24A1 255631 genome.wustl.edu 37 1 86334285 86334285 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152890.5 -1 validated p.P1073S 1.000 504 0% 213 38% - - benign(0) tolerated(0.17) neutral(0.059) HMMPfam_Collagen COL24A1 255631 genome.wustl.edu 37 1 86591121 86591121 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152890.5 -1 validated p.T300A 0.000 304 0.7% 162 34.6% - - benign(0.001) deleterious(0) neutral(0.445) NULL CLCA2 9635 genome.wustl.edu 37 1 86921103 86921103 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006536.5 +1 reviewed p.A909S 0.070 399 0% 191 13.6% - - benign(0.06) tolerated(0.32) neutral(0.028) NULL CLCA2 9635 genome.wustl.edu 37 1 86921123 86921123 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006536.5 +1 reviewed p.I915 0.005 353 0% 163 35% - - - - - NULL CLCA1 1179 genome.wustl.edu 37 1 86959955 86959955 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001285.3 +1 reviewed p.P589H 1.000 369 0% 188 39.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DUF1973 CLCA4 22802 genome.wustl.edu 37 1 87025978 87025978 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012128.3 +1 reviewed p.E129K 0.995 389 0% 154 40.3% - - benign(0.008) tolerated(0.63) neutral(0.004) HMMPfam_CLCA_N CLCA4 22802 genome.wustl.edu 37 1 87040231 87040231 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012128.3 +1 reviewed p.S492 0.442 57 0% 51 33.3% - - - - - HMMPfam_DUF1973 SH3GLB1 51100 genome.wustl.edu 37 1 87200775 87200775 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016009.3 +1 validated p.R225H 1.000 351 0% 185 31.4% - - possibly_damaging(0.644) deleterious(0.02) deleterious(0.609) HMMPfam_BAR,HMMSmart_SM00721 LMO4 8543 genome.wustl.edu 37 1 87797929 87797929 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006769.3 +1 reviewed p.Y77 1.000 113 0% 60 23.3% - - - - - HMMPfam_LIM,superfamily_Glucocorticoid receptor-like (DNA-binding domain) PKN2 5586 genome.wustl.edu 37 1 89225904 89225904 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006256.2 +1 validated e3-1 1.000 96 0% 42 31% - - - - - - GBP3 2635 genome.wustl.edu 37 1 89479027 89479027 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018284.2 -1 reviewed p.D237N 0.229 293 0% 137 28.5% - - benign(0.389) tolerated(0.1) neutral(0.411) superfamily_SSF52540 GBP1 2633 genome.wustl.edu 37 1 89524697 89524697 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002053.2 -1 validated p.R153Q 0.276 377 0% 192 35.9% - - benign(0.192) deleterious(0.02) neutral(0.401) HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases GBP7 388646 genome.wustl.edu 37 1 89597960 89597960 + Missense_Mutation SNP G G T rs143373731 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207398.2 -1 validated p.L597I 0.000 424 0% 202 28.7% - - benign(0.088) tolerated(0.09) neutral(0.303) NULL GBP7 388646 genome.wustl.edu 37 1 89613337 89613337 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207398.2 -1 validated p.F426L 0.945 511 0% 247 38.1% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain LRRC8C 84230 genome.wustl.edu 37 1 90178335 90178335 + Missense_Mutation SNP C C T rs148090493 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032270.4 +1 validated p.S69L 0.014 227 0% 112 21.4% - - benign(0) tolerated(0.39) neutral(0.016) NULL LRRC8C 84230 genome.wustl.edu 37 1 90179580 90179580 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032270.4 +1 validated p.A484V 0.950 165 0% 109 39.4% - - benign(0.064) tolerated(0.11) neutral(0.276) superfamily_L domain-like LRRC8C 84230 genome.wustl.edu 37 1 90180367 90180367 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032270.4 +1 validated p.P746 0.972 220 0% 121 37.2% - - - - - superfamily_L domain-like LRRC8D 55144 genome.wustl.edu 37 1 90399924 90399924 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134479.1 +1 validated p.R433C 1.000 118 0% 63 28.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRRC8D 55144 genome.wustl.edu 37 1 90400233 90400233 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134479.1 +1 validated p.R536C 1.000 102 0% 53 20.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52058 LRRC8D 55144 genome.wustl.edu 37 1 90400490 90400490 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134479.1 +1 validated p.D621 1.000 143 0% 82 34.1% - - - - - superfamily_SSF52058 BARHL2 343472 genome.wustl.edu 37 1 91182450 91182450 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020063.1 -1 validated p.P101 0.730 41 0% 24 37.5% - - - - - NULL ZNF644 84146 genome.wustl.edu 37 1 91404000 91404000 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_201269.1 -1 validated p.T971A 1.000 351 0% 175 26.9% - - probably_damaging(0.973) deleterious(0.01) deleterious(0.821) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 ZNF644 84146 genome.wustl.edu 37 1 91404360 91404360 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_201269.1 -1 validated p.D851N 1.000 176 0% 84 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF644 84146 genome.wustl.edu 37 1 91405698 91405698 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_201269.1 -1 validated p.E405K 1.000 195 0% 104 36.5% - - benign(0.117) deleterious(0.02) neutral(0.393) superfamily_C2H2 and C2HC zinc fingers ZNF644 84146 genome.wustl.edu 37 1 91406039 91406039 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_201269.1 -1 validated p.R291I 1.000 248 0% 143 28.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HFM1 164045 genome.wustl.edu 37 1 91742281 91742281 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017975.3 -1 validated p.Q1164H 1.000 153 0% 63 17.5% - - possibly_damaging(0.835) deleterious(0.03) deleterious(0.683) NULL HFM1 164045 genome.wustl.edu 37 1 91788523 91788523 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017975.3 -1 validated p.E856* 1.000 175 0% 66 31.8% - - - - - HMMPfam_Sec63 HFM1 164045 genome.wustl.edu 37 1 91866623 91866623 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017975.3 -1 validated p.D6A 0.960 152 0% 58 48.3% - - benign(0.004) - - NULL TGFBR3 7049 genome.wustl.edu 37 1 92149341 92149341 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003243.3 -1 validated p.I837 0.527 125 0% 68 35.3% - - - - - NULL TGFBR3 7049 genome.wustl.edu 37 1 92200488 92200488 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003243.3 -1 validated p.S138* 0.978 370 0% 231 36.4% - - - - - NULL BRDT 676 genome.wustl.edu 37 1 92442940 92442940 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001726.3 +1 validated p.G320V 1.000 23 0% 20 25% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 BRDT 676 genome.wustl.edu 37 1 92443793 92443793 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001726.3 +1 validated p.M346I 1.000 207 0% 124 33.1% - - probably_damaging(0.991) tolerated(0.07) deleterious(0.763) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 BRDT 676 genome.wustl.edu 37 1 92446360 92446360 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001726.3 +1 validated p.K483T 0.961 263 0% 95 36.8% - - benign(0) tolerated(0.34) neutral(0.023) NULL KIAA1107 23285 genome.wustl.edu 37 1 92646421 92646421 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015237.2 +1 validated p.E623* 0.000 75 0% 50 22% - - - - - NULL KIAA1107 23285 genome.wustl.edu 37 1 92647157 92647157 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015237.2 +1 validated p.T868I 1.000 94 0% 74 29.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C1orf146 388649 genome.wustl.edu 37 1 92710373 92710373 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012425.1 +1 validated p.N123H 1.000 224 0% 130 16.2% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL RPL5 6125 genome.wustl.edu 37 1 93303176 93303176 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000969.3 +1 reviewed p.V231I 0.844 31 0% 28 21.4% - - benign(0.002) tolerated(1) - superfamily_Translational machinery components FNBP1L 54874 genome.wustl.edu 37 1 93988988 93988988 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000271234 +1 known p.A94 0.058 455 0% 216 36.1% - - - - - NULL BCAR3 8412 genome.wustl.edu 37 1 94027965 94027965 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003567.2 -1 reviewed p.D771N 1.000 277 0% 157 36.9% - - possibly_damaging(0.748) tolerated(0.6) neutral(0.279) HMMSmart_SM00147 LOC100129046 100129046 genome.wustl.edu 37 1 94054806 94054806 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001726861.2 +1 model p.E47K 0.995 79 0% 56 28.6% - - - - - NULL DNTTIP2 30836 genome.wustl.edu 37 1 94335422 94335422 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014597.3 -1 provisional p.K752N 1.000 445 0% 204 30.4% - - unknown(0) deleterious(0.01) - NULL DNTTIP2 30836 genome.wustl.edu 37 1 94337679 94337679 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014597.3 -1 provisional p.P672 0.875 477 0.2% 227 37.9% - - - - - HMMPfam_Fcf2 DNTTIP2 30836 genome.wustl.edu 37 1 94342568 94342568 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014597.3 -1 provisional p.D308G 0.045 292 0% 162 37.7% - - benign(0.323) deleterious(0) deleterious(0.545) NULL ABCA4 24 genome.wustl.edu 37 1 94502832 94502832 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000350.2 -1 reviewed p.E1228* 1.000 199 0% 125 32.8% - - - - - NULL ABCA4 24 genome.wustl.edu 37 1 94508437 94508437 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000350.2 -1 reviewed p.L1070 1.000 108 0% 72 37.5% - - - - - HMMPfam_ABC_tran,HMMSmart_AAA,PatternScan_ABC_TRANSPORTER_1,superfamily_SSF52540 ABCA4 24 genome.wustl.edu 37 1 94522371 94522371 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000350.2 -1 reviewed p.R723I 0.034 209 0% 98 35.7% - - possibly_damaging(0.604) deleterious(0.01) deleterious(0.615) NULL ABCA4 24 genome.wustl.edu 37 1 94578619 94578619 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000350.2 -1 reviewed p.R24C 1.000 160 0% 73 32.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARHGAP29 9411 genome.wustl.edu 37 1 94639778 94639778 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004815.3 -1 validated p.D1145Y 0.980 231 0% 187 16.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ABCD3 5825 genome.wustl.edu 37 1 94944094 94944094 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001122674.1 +1 reviewed p.I233M 0.004 74 0% 38 42.1% - - benign(0.01) tolerated(0.59) neutral(0.005) HMMPfam_ABC_membrane_2 F3 2152 genome.wustl.edu 37 1 94997962 94997962 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001993.4 -1 reviewed p.Q222H 0.973 453 0% 237 37.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_FN_III-like CNN3 1266 genome.wustl.edu 37 1 95369040 95369040 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001839.3 -1 validated p.R33H 1.000 181 0% 116 41.4% - - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain PTBP2 58155 genome.wustl.edu 37 1 97217025 97217025 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021190.2 +1 reviewed p.P28 0.988 240 0% 131 39.7% - - - - - NULL DPYD 1806 genome.wustl.edu 37 1 98187097 98187097 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000110.3 -1 reviewed p.N151T 1.000 177 0% 71 39.4% - - possibly_damaging(0.867) tolerated(0.32) neutral(0.361) superfamily_Helical_ferredxn LPPR4 9890 genome.wustl.edu 37 1 99764705 99764705 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014839.4 +1 reviewed p.L218R 1.000 408 0% 239 30.5% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_PAP2,HMMSmart_SM00014,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase LPPR4 9890 genome.wustl.edu 37 1 99771601 99771601 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014839.4 +1 reviewed p.R443* 0.931 100 0% 42 33.3% - - - - - NULL PALMD 54873 genome.wustl.edu 37 1 100154935 100154935 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017734.4 +1 validated p.E373D 0.000 126 0% 55 29.1% - - benign(0.032) tolerated(0.52) neutral(0.010) NULL FRRS1 391059 genome.wustl.edu 37 1 100174612 100174612 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013660.2 -1 validated p.Y575H 0.985 200 0% 126 36.5% - - benign(0) tolerated(0.29) neutral(0.029) NULL FRRS1 391059 genome.wustl.edu 37 1 100207773 100207773 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013660.2 -1 validated p.W130C 1.000 381 0% 253 34.4% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Reeler AGL 178 genome.wustl.edu 37 1 100336139 100336139 + Splice_Site SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000028.2 +1 reviewed e5+2 1.000 207 0% 108 34.3% - - - - - - SLC35A3 23443 genome.wustl.edu 37 1 100464939 100464939 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012243.1 +1 provisional p.A104T 1.000 179 0% 70 37.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nuc_sug_transp,superfamily_Multidrug resistance efflux transporter EmrE SLC35A3 23443 genome.wustl.edu 37 1 100476951 100476951 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012243.1 +1 provisional p.E166K 1.000 237 0% 92 29.3% - - benign(0.001) tolerated(0.59) neutral(0.004) HMMPfam_Nuc_sug_transp SASS6 163786 genome.wustl.edu 37 1 100572946 100572946 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194292.1 -1 validated p.R437Q 0.291 144 0% 57 31.6% - - probably_damaging(0.976) tolerated(0.22) neutral(0.460) NULL SASS6 163786 genome.wustl.edu 37 1 100575913 100575913 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194292.1 -1 validated p.E266K 0.997 643 0% 341 33.4% - - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL CCDC76 54482 genome.wustl.edu 37 1 100606482 100606482 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019083.2 +1 validated p.G192 1.000 603 0.2% 282 36.2% - - - - - HMMPfam_TRM13 LRRC39 127495 genome.wustl.edu 37 1 100633977 100633977 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144620.2 -1 provisional p.E32D 0.999 592 0% 320 38.1% - - probably_damaging(0.988) tolerated(0.08) deleterious(0.738) NULL RTCD1 8634 genome.wustl.edu 37 1 100741239 100741239 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130841.1 +1 validated p.E247* 1.000 311 0% 148 41.2% - - - - - HMMPfam_RTC,superfamily_RNA 3'-terminal phosphate cyclase RPTC insert domain,HMMPfam_RTC_insert CDC14A 8556 genome.wustl.edu 37 1 100856304 100856304 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033312.2 +1 reviewed p.R78I 1.000 315 0% 170 34.1% - - benign(0.32) tolerated(0.06) neutral(0.422) superfamily_(Phosphotyrosine protein) phosphatases II GPR88 54112 genome.wustl.edu 37 1 101004693 101004693 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022049.2 +1 validated p.S57 0.998 55 0% 45 33.3% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 EXTL2 2135 genome.wustl.edu 37 1 101343407 101343407 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001033025.1 -1 validated p.R20* 0.437 110 0% 66 24.2% - - - - - NULL SLC30A7 148867 genome.wustl.edu 37 1 101431434 101431434 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000370111 +1 known p.C67* 1.000 438 0% 221 29.4% - - benign(0.15) tolerated(0.45) neutral(0.025) HMMPfam_Cation_efflux S1PR1 1901 genome.wustl.edu 37 1 101705208 101705208 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001400.4 +1 reviewed p.R223I 1.000 168 0% 136 34.6% - - benign(0.21) deleterious(0) neutral(0.465) HMMPfam_7tm_1,superfamily_SSF81321 S1PR1 1901 genome.wustl.edu 37 1 101705308 101705308 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001400.4 +1 reviewed p.K256N 1.000 92 0% 69 34.8% - - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_7tm_1,superfamily_SSF81321 S1PR1 1901 genome.wustl.edu 37 1 101705483 101705483 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001400.4 +1 reviewed p.N315D 1.000 74 0% 49 22.4% - - possibly_damaging(0.575) tolerated(0.16) neutral(0.257) superfamily_SSF81321 COL11A1 1301 genome.wustl.edu 37 1 103352370 103352370 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080629.2 -1 reviewed p.F1629 1.000 475 0% 232 38.8% - - - - - HMMPfam_COLFI,HMMSmart_COLFI COL11A1 1301 genome.wustl.edu 37 1 103352535 103352535 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080629.2 -1 reviewed p.Q1574H 0.997 568 0% 258 40.7% - - unknown(0) tolerated(0.09) - NULL COL11A1 1301 genome.wustl.edu 37 1 103467504 103467504 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080629.2 -1 reviewed p.P719T 1.000 202 0% 64 23.4% - - probably_damaging(0.98) tolerated(0.12) deleterious(0.684) HMMPfam_Collagen COL11A1 1301 genome.wustl.edu 37 1 103471829 103471829 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080629.2 -1 reviewed p.P588S 0.991 68 0% 21 42.9% - - unknown(0) tolerated(0.33) - HMMPfam_Collagen COL11A1 1301 genome.wustl.edu 37 1 103544243 103544243 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080629.2 -1 reviewed p.L153 0.981 279 0% 123 34.1% - - - - - HMMSmart_LamG,HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 RNPC3 55599 genome.wustl.edu 37 1 104083980 104083980 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017619.3 +1 reviewed p.K259T 1.000 382 0% 119 32.8% - - benign(0.309) deleterious(0.02) deleterious(0.480) NULL AMY2B 280 genome.wustl.edu 37 1 104115858 104115858 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020978.3 +1 reviewed p.I163 0.994 655 0% 335 29.9% - - - - - HMMPfam_Alpha-amylase,HMMSmart_SM00642,superfamily_(Trans)glycosidases NTNG1 22854 genome.wustl.edu 37 1 107691418 107691418 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001113226.1 +1 validated p.P68L 1.000 289 0% 158 32.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Laminin_N,HMMSmart_SM00136 VAV3 10451 genome.wustl.edu 37 1 108247217 108247217 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006113.4 -1 reviewed p.E554* 1.000 328 0% 166 39.8% - - - - - HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain VAV3 10451 genome.wustl.edu 37 1 108417609 108417609 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006113.4 -1 reviewed p.L79I 1.000 224 0% 107 13.1% - - possibly_damaging(0.905) deleterious(0) deleterious(0.804) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain AKNAD1 254268 genome.wustl.edu 37 1 109380257 109380257 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152763.3 -1 validated p.K484T 0.005 466 0% 263 20.5% - - possibly_damaging(0.713) deleterious(0) deleterious(0.702) NULL GPSM2 29899 genome.wustl.edu 37 1 109428193 109428193 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013296.4 +1 validated p.R17C 1.000 314 0.3% 167 37.7% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_SSF48452 TMEM167B 56900 genome.wustl.edu 37 1 109637104 109637104 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020141.3 +1 provisional p.V70I 1.000 340 0% 215 25.6% - - benign(0.001) tolerated(0.87) neutral(0.001) NULL SARS 6301 genome.wustl.edu 37 1 109766634 109766634 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006513.2 +1 reviewed p.K57N 1.000 561 0% 240 36.2% - - probably_damaging(0.987) tolerated(0.31) neutral(0.464) superfamily_tRNA-binding arm,HMMPfam_Seryl_tRNA_N CELSR2 1952 genome.wustl.edu 37 1 109795546 109795546 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001408.2 +1 reviewed p.D949N 1.000 122 0% 81 39.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CYB561D1 284613 genome.wustl.edu 37 1 110037767 110037767 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182580.2 +1 validated p.L51I 1.000 788 0% 451 34.8% - - benign(0.025) deleterious(0.01) neutral(0.407) HMMPfam_Cytochrom_B561 AMIGO1 57463 genome.wustl.edu 37 1 110050860 110050860 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020703.2 -1 validated p.C225 1.000 81 0% 51 27.5% - - - - - HMMSmart_LRRCT,superfamily_SSF52058 GNAT2 2780 genome.wustl.edu 37 1 110146103 110146103 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005272.3 -1 reviewed p.R313Q 1.000 447 0.2% 236 14.4% - - possibly_damaging(0.85) tolerated(0.39) neutral(0.343) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases EPS8L3 79574 genome.wustl.edu 37 1 110300600 110300600 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139053.1 -1 reviewed p.K267N 1.000 685 0% 400 12.8% - - probably_damaging(1) tolerated(0.23) deleterious(0.541) NULL CSF1 1435 genome.wustl.edu 37 1 110466038 110466038 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000757.4 +1 validated p.E265D 0.710 59 0% 39 64.1% - - probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_CSF-1 AHCYL1 10768 genome.wustl.edu 37 1 110559066 110559066 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006621.4 +1 validated p.E295* 1.000 307 0% 150 24.7% - - - - - HMMPfam_AdoHcyase,HMMPfam_AdoHcyase_NAD,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Formate/glycerate dehydrogenase catalytic domain-like SLC6A17 388662 genome.wustl.edu 37 1 110740828 110740828 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010898.2 +1 validated p.N649S 1.000 125 0% 115 33.9% - - benign(0.006) tolerated(0.24) neutral(0.037) HMMPfam_SNF KCNC4 3749 genome.wustl.edu 37 1 110775555 110775555 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039574.1 +1 reviewed p.S614 0.998 283 0% 124 39.5% - - - - - NULL KCNA10 3744 genome.wustl.edu 37 1 111060656 111060656 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005549.2 -1 reviewed p.D252N 0.021 224 0% 186 39.8% - - benign(0.001) tolerated(0.61) neutral(0.004) superfamily_SSF81324 KCNA2 3737 genome.wustl.edu 37 1 111147211 111147211 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004974.2 -1 reviewed p.R65Q 1.000 135 0% 80 26.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold KCNA3 3738 genome.wustl.edu 37 1 111216087 111216087 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002232.3 -1 reviewed p.D449N 1.000 133 0% 77 28.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ion_trans,superfamily_SSF81324 KCNA3 3738 genome.wustl.edu 37 1 111216508 111216508 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002232.3 -1 reviewed p.F308 0.982 71 0% 41 48.8% - - - - - HMMPfam_Ion_trans,superfamily_SSF81324 CHI3L2 1117 genome.wustl.edu 37 1 111784925 111784925 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004000.2 +1 validated p.S371F 0.906 137 0% 86 34.9% - - benign(0.002) tolerated(1) - superfamily_Glyco_hydro_cat C1orf88 128344 genome.wustl.edu 37 1 111890325 111890325 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181643.4 +1 validated p.K63N 0.456 201 0% 109 41.3% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL KCND3 3752 genome.wustl.edu 37 1 112524657 112524657 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004980.3 -1 reviewed p.T231M 1.000 38 0% 33 27.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CTTNBP2NL 55917 genome.wustl.edu 37 1 112999550 112999550 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018704.2 +1 validated p.L479R 0.675 289 0% 153 34% - - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMPfam_CortBP2 WNT2B 7482 genome.wustl.edu 37 1 113063059 113063059 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024494.2 +1 reviewed p.K368N 1.000 332 0% 192 38.5% - - benign(0.111) tolerated(0.25) neutral(0.045) HMMPfam_wnt,HMMSmart_SM00097 ST7L 54879 genome.wustl.edu 37 1 113098637 113098637 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017744.4 -1 reviewed p.L417V 1.000 143 0% 100 35% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ST7 ST7L 54879 genome.wustl.edu 37 1 113124719 113124719 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017744.4 -1 reviewed p.E322* 1.000 270 0% 161 32.3% - - - - - HMMPfam_ST7 PPM1J 333926 genome.wustl.edu 37 1 113253099 113253099 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005167.5 -1 reviewed p.E451 1.000 281 0% 210 36.2% - - - - - HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain LOC128322 128322 genome.wustl.edu 37 1 113290807 113290807 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_060943.1 +1 model p.A31T 0.895 86 0% 47 38.3% - - - - - HMMPfam_NTF2,PatternScan_WD_REPEATS_1,superfamily_NTF2-like SLC16A1 6566 genome.wustl.edu 37 1 113459960 113459960 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003051.3 -1 reviewed p.F356 0.999 117 0% 48 47.9% - - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter LRIG2 9860 genome.wustl.edu 37 1 113653158 113653158 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014813.1 +1 provisional p.S591Y 1.000 213 0% 165 35.8% - - benign(0.159) deleterious(0) neutral(0.459) HMMSmart_IG,superfamily_SSF48726 MAGI3 260425 genome.wustl.edu 37 1 114193706 114193706 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142782.1 +1 validated p.L773R 1.000 300 0% 196 35.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ RSBN1 54665 genome.wustl.edu 37 1 114340562 114340562 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018364.3 -1 validated p.R267Q 1.000 289 0% 206 41.7% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL PTPN22 26191 genome.wustl.edu 37 1 114380565 114380565 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015967.4 -1 reviewed p.A486V 0.988 202 0% 117 40.2% - - benign(0.094) tolerated(0.83) neutral(0.007) NULL AP4B1 10717 genome.wustl.edu 37 1 114443859 114443859 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006594.2 -1 validated p.R206* 1.000 134 0% 58 25.9% - - - - - HMMPfam_Adaptin_N,superfamily_ARM-type_fold HIPK1 204851 genome.wustl.edu 37 1 114511225 114511225 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198268.1 +1 reviewed p.R909Q 1.000 257 0.4% 155 36.1% - - probably_damaging(0.965) tolerated(0.07) deleterious(0.726) NULL TRIM33 51592 genome.wustl.edu 37 1 114944012 114944012 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000448034 -1 known p.R750* 1.000 212 0% 82 15.9% - - benign(0.032) tolerated(0.21) neutral(0.045) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain BCAS2 10286 genome.wustl.edu 37 1 115113346 115113346 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005872.2 -1 validated p.A149T 1.000 136 0% 65 32.3% - - benign(0.296) tolerated(0.25) neutral(0.129) HMMPfam_BCAS2 DENND2C 163259 genome.wustl.edu 37 1 115142905 115142905 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198459.3 -1 validated p.C618* 1.000 216 0% 100 32% - - - - - HMMPfam_DENN,HMMSmart_DENN AMPD1 270 genome.wustl.edu 37 1 115220998 115220998 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000036.2 -1 reviewed p.M350L 0.998 421 0% 190 15.3% - - benign(0) tolerated(1) - HMMPfam_A_deaminase,superfamily_SSF51556 NRAS 4893 genome.wustl.edu 37 1 115252323 115252323 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002524.3 -1 reviewed p.S106L 1.000 476 0.2% 233 38.2% - - benign(0.013) tolerated(0.17) neutral(0.059) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CSDE1 7812 genome.wustl.edu 37 1 115267909 115267909 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130523.1 -1 validated p.V577 0.983 712 0% 393 24.4% - - - - - HMMPfam_CSD,HMMSmart_SM00357,superfamily_Nucleic acid-binding proteins CSDE1 7812 genome.wustl.edu 37 1 115277125 115277125 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130523.1 -1 validated p.R189C 1.000 192 0% 103 41.7% - - probably_damaging(0.999) tolerated(0.19) deleterious(0.540) NULL SYCP1 6847 genome.wustl.edu 37 1 115428789 115428789 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003176.2 +1 validated p.K350T 0.934 199 0% 108 41.7% - - possibly_damaging(0.631) deleterious(0.03) deleterious(0.585) HMMPfam_SCP-1 SYCP1 6847 genome.wustl.edu 37 1 115489881 115489881 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003176.2 +1 validated p.S754 0.905 206 0% 74 25.7% - - - - - HMMPfam_SCP-1 TSPAN2 10100 genome.wustl.edu 37 1 115604774 115604774 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005725.4 -1 reviewed p.S84 0.321 248 0% 118 31.4% - - - - - HMMPfam_Tetraspannin,PatternScan_TM4_1 NGF 4803 genome.wustl.edu 37 1 115829407 115829407 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002506.2 -1 reviewed p.L4 1.000 139 0% 58 31% - - - - - NULL CASQ2 845 genome.wustl.edu 37 1 116311118 116311118 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001232.3 -1 reviewed p.S15 0.986 241 0% 110 17.3% - - - - - HMMPfam_Calsequestrin NHLH2 4808 genome.wustl.edu 37 1 116380721 116380721 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001111061.1 -1 validated p.E91D 0.980 47 0% 32 28.1% - - benign(0.395) deleterious(0) deleterious(0.572) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic SLC22A15 55356 genome.wustl.edu 37 1 116569533 116569533 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018420.2 +1 validated p.F206L 1.000 433 0% 229 36.2% - - benign(0.006) tolerated(0.39) neutral(0.016) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter SLC22A15 55356 genome.wustl.edu 37 1 116609274 116609274 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018420.2 +1 validated p.S500* 0.970 200 0% 118 33.9% - - - - - NULL ATP1A1 476 genome.wustl.edu 37 1 116926642 116926642 + Frame_Shift_Del DEL C C - novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000701.7 +1 reviewed p.R7fs 1.000 - - - - - - - - - NULL CD2 914 genome.wustl.edu 37 1 117297285 117297285 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001767.3 +1 validated p.E32K 0.001 250 0% 146 37% - - benign(0.068) tolerated(0.06) neutral(0.327) HMMPfam_V-set,superfamily_Immunoglobulin PTGFRN 5738 genome.wustl.edu 37 1 117509713 117509713 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020440.2 +1 provisional p.S607F 1.000 261 0% 154 36.4% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMSmart_SM00409,superfamily_Immunoglobulin PTGFRN 5738 genome.wustl.edu 37 1 117516885 117516885 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020440.2 +1 provisional p.R703W 1.000 401 0% 254 31.9% - - probably_damaging(0.999) tolerated(0.19) deleterious(0.540) HMMSmart_SM00409,superfamily_Immunoglobulin TTF2 8458 genome.wustl.edu 37 1 117618328 117618328 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003594.3 +1 reviewed p.S374 0.000 132 0% 113 31.9% - - - - - NULL WDR3 10885 genome.wustl.edu 37 1 118502037 118502037 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006784.2 +1 reviewed p.K933N 1.000 434 0% 214 37.4% - - possibly_damaging(0.919) deleterious(0.01) deleterious(0.775) HMMPfam_Utp12 SPAG17 200162 genome.wustl.edu 37 1 118548166 118548166 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_206996.2 -1 validated p.C1549* 0.987 193 0% 117 12.8% - - - - - NULL HSD3B1 3283 genome.wustl.edu 37 1 120056716 120056716 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000862.2 +1 validated p.I190 1.000 139 0% 82 29.3% - - - - - HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd ZNF697 90874 genome.wustl.edu 37 1 120168576 120168576 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080470.1 -1 provisional p.E50* 0.001 416 0% 271 31% - - - - - NULL PHGDH 26227 genome.wustl.edu 37 1 120284439 120284439 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006623.3 +1 reviewed p.V376 0.957 86 0% 64 50% - - - - - NULL HMGCS2 3158 genome.wustl.edu 37 1 120295926 120295926 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005518.3 -1 reviewed p.R424Q 0.657 114 0% 51 23.5% - - probably_damaging(0.987) tolerated(0.08) deleterious(0.736) HMMPfam_HMG_CoA_synt_C,superfamily_Thiolase-like HMGCS2 3158 genome.wustl.edu 37 1 120298145 120298145 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005518.3 -1 reviewed p.F364 1.000 688 0% 336 31.8% - - - - - HMMPfam_HMG_CoA_synt_C,superfamily_Thiolase-like HMGCS2 3158 genome.wustl.edu 37 1 120306969 120306969 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005518.3 -1 reviewed p.V129I 1.000 159 0% 153 35.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HMG_CoA_synt_N,superfamily_Thiolase-like HMGCS2 3158 genome.wustl.edu 37 1 120307093 120307093 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005518.3 -1 reviewed p.G87 1.000 306 0% 243 29.6% - - - - - HMMPfam_HMG_CoA_synt_N,superfamily_Thiolase-like REG4 83998 genome.wustl.edu 37 1 120345580 120345580 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000369401 -1 known p.E92D 0.036 202 0% 96 36.5% - - benign(0.099) - - NULL ADAM30 11085 genome.wustl.edu 37 1 120436697 120436697 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021794.2 -1 reviewed p.A755T 0.000 1018 0% 590 34.4% - - benign(0.186) deleterious(0) neutral(0.462) NULL NOTCH2 4853 genome.wustl.edu 37 1 120464369 120464369 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024408.2 -1 reviewed p.V1759 0.270 381 0% 251 36.7% - - - - - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144880778 144880778 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014644.4 -1 validated p.E1284K 1.000 407 0.2% 234 18.8% - - unknown(0) deleterious(0.01) - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144886282 144886282 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014644.4 -1 validated p.Q984H 0.786 324 0% 176 19.9% - - unknown(0) deleterious(0) - NULL HFE2 148738 genome.wustl.edu 37 1 145416650 145416650 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_213653.3 +1 reviewed p.R332H 0.974 190 0.5% 128 10.2% - - probably_damaging(0.974) tolerated(0.57) neutral(0.422) HMMPfam_RGM_C PEX11B 8799 genome.wustl.edu 37 1 145517352 145517352 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003846.2 +1 validated p.R46* 0.578 176 0% 95 43.2% - - - - - HMMPfam_PEX11 ITGA10 8515 genome.wustl.edu 37 1 145533486 145533486 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003637.3 +1 reviewed p.R457* 1.000 397 0% 260 35% - - - - - HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain RNF115 27246 genome.wustl.edu 37 1 145663195 145663195 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014455.2 +1 validated p.D86Y 1.000 346 0% 143 33.6% - - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) NULL RNF115 27246 genome.wustl.edu 37 1 145684635 145684635 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014455.2 +1 validated p.K208N 1.000 379 0% 145 31% - - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) superfamily_RING/U-box ACP6 51205 genome.wustl.edu 37 1 147119318 147119318 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016361.3 -1 validated p.F398L 1.000 377 0% 249 34.1% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_Phosphoglycerate mutase-like GJA5 2702 genome.wustl.edu 37 1 147230322 147230322 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005266.5 -1 reviewed p.R342Q 0.995 307 0% 164 35.4% - - unknown(0) deleterious(0) - NULL GJA5 2702 genome.wustl.edu 37 1 147230816 147230816 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005266.5 -1 reviewed p.I177 1.000 119 0% 77 15.6% - - - - - HMMPfam_Connexin_CCC GJA5 2702 genome.wustl.edu 37 1 147231305 147231305 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005266.5 -1 reviewed p.V14 0.141 165 0% 114 14.9% - - - - - HMMPfam_Connexin NBPF14 25832 genome.wustl.edu 37 1 148025846 148025846 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000310701 -1 known p.K1N 0.002 287 0% 165 26.1% - - possibly_damaging(0.882) deleterious(0) deleterious(0.789) NULL SV2A 9900 genome.wustl.edu 37 1 149884905 149884905 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014849.3 -1 validated p.R163H 1.000 115 0% 80 33.8% - - probably_damaging(0.993) deleterious(0.03) deleterious(0.815) superfamily_MFS general substrate transporter OTUD7B 56957 genome.wustl.edu 37 1 149916650 149916650 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020205.2 -1 validated p.E546 1.000 235 0% 203 38.4% - - - - - NULL PLEKHO1 51177 genome.wustl.edu 37 1 150131099 150131099 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016274.4 +1 provisional p.A204V 1.000 106 0% 54 27.8% - - possibly_damaging(0.923) tolerated(0.27) neutral(0.406) NULL ENSG00000245214 0 genome.wustl.edu 37 1 150131811 150131811 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000430673 -1 novel NULL 0.772 14 0% 10 50% - - - - - - PRPF3 9129 genome.wustl.edu 37 1 150316732 150316732 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004698.2 +1 reviewed p.R507 1.000 200 0% 97 41.2% - - - - - HMMPfam_PRP3 TARS2 80222 genome.wustl.edu 37 1 150463122 150463122 + Missense_Mutation SNP C C G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025150.3 +1 provisional p.Q145E 0.955 319 0% 112 29.5% - - benign(0.026) tolerated(0.98) neutral(0.001) superfamily_Thr/Ala-tRNA-synth_IIc_edit HORMAD1 84072 genome.wustl.edu 37 1 150680867 150680867 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032132.3 -1 provisional p.E138K 0.000 323 0% 111 40.5% - - benign(0) tolerated(0.82) neutral(0.001) HMMPfam_HORMA,superfamily_The spindle assembly checkpoint protein mad2 SETDB1 9869 genome.wustl.edu 37 1 150936128 150936128 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145415.1 +1 reviewed p.R1194C 0.991 67 0% 53 34% - - benign(0.007) deleterious(0) neutral(0.445) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain MLLT11 10962 genome.wustl.edu 37 1 151039956 151039956 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006818.3 +1 reviewed p.E86K 1.000 57 0% 58 36.2% - - benign(0.153) deleterious(0.04) neutral(0.362) NULL GABPB2 126626 genome.wustl.edu 37 1 151089947 151089947 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144618.2 +1 validated p.K334N 1.000 327 0% 136 33.1% - - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL PIP5K1A 8394 genome.wustl.edu 37 1 151212450 151212450 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135638.1 +1 validated p.R433H 1.000 131 0% 82 30.5% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like ZNF687 57592 genome.wustl.edu 37 1 151260445 151260445 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020832.1 +1 provisional p.E560K 1.000 34 0% 22 22.7% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_C2H2 and C2HC zinc fingers SELENBP1 8991 genome.wustl.edu 37 1 151341588 151341588 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000455839 -1 known p.R47W 0.994 49 0% 34 41.2% - - unknown(0) - - NULL POGZ 23126 genome.wustl.edu 37 1 151379718 151379718 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015100.2 -1 reviewed p.S809P 1.000 217 0% 117 30.8% - - benign(0.002) tolerated(0.26) neutral(0.034) NULL POGZ 23126 genome.wustl.edu 37 1 151384859 151384859 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015100.2 -1 reviewed p.I564 1.000 183 0% 71 31% - - - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers POGZ 23126 genome.wustl.edu 37 1 151396750 151396750 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015100.2 -1 reviewed p.E400* 1.000 408 0% 231 36.8% - - - - - superfamily_C2H2 and C2HC zinc fingers SNX27 81609 genome.wustl.edu 37 1 151641067 151641067 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030918.5 +1 reviewed p.L369I 1.000 228 0% 159 37.7% - - possibly_damaging(0.739) tolerated(0.2) neutral(0.320) NULL MRPL9 65005 genome.wustl.edu 37 1 151734876 151734876 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031420.2 -1 reviewed p.K137N 0.913 342 0% 203 38.4% - - possibly_damaging(0.811) tolerated(0.14) deleterious(0.555) superfamily_L9 N-domain-like,HMMPfam_Ribosomal_L9_N OAZ3 51686 genome.wustl.edu 37 1 151740600 151740600 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000453029 +1 known p.S48* 1.000 334 0% 284 35.2% - - probably_damaging(0.99) tolerated(0.2) deleterious(0.490) HMMPfam_ODC_AZ TDRKH 11022 genome.wustl.edu 37 1 151749034 151749034 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001083963.1 -1 validated p.E309* 1.000 197 0% 113 40.7% - - - - - HMMPfam_TUDOR TDRKH 11022 genome.wustl.edu 37 1 151751443 151751443 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001083963.1 -1 validated p.R201W 1.000 319 0% 165 29.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Eukaryotic type KH-domain (KH-domain type I) TCHHL1 126637 genome.wustl.edu 37 1 152060497 152060497 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008536.1 -1 provisional p.F41L 0.944 211 0% 133 39.1% - - benign(0.02) tolerated(0.3) neutral(0.030) HMMPfam_S_100,superfamily_SSF47473 HRNR 388697 genome.wustl.edu 37 1 152186537 152186537 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009931.1 -1 validated p.S2523Y 0.006 462 0% 352 11.6% - - unknown(0) - - NULL FLG 2312 genome.wustl.edu 37 1 152283701 152283701 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002016.1 -1 reviewed p.R1221C 0.000 848 0% 579 34.2% - - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL FLG 2312 genome.wustl.edu 37 1 152285758 152285758 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002016.1 -1 reviewed p.S535L 0.000 694 0% 500 35.2% - - benign(0.002) deleterious(0.01) neutral(0.406) NULL FLG 2312 genome.wustl.edu 37 1 152287909 152287909 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002016.1 -1 reviewed p.I8 0.271 433 0% 230 10% - - - - - HMMPfam_S_100,superfamily_SSF47473 FLG2 388698 genome.wustl.edu 37 1 152326237 152326237 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001014342.2 -1 provisional p.R1342I 0.010 928 0% 535 38.1% - - unknown(0) deleterious(0) - NULL CRNN 49860 genome.wustl.edu 37 1 152383145 152383145 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016190.2 -1 reviewed p.R138I 0.002 255 0% 135 27.4% - - benign(0.055) tolerated(0.09) neutral(0.300) NULL LCE1A 353131 genome.wustl.edu 37 1 152800215 152800215 + Silent SNP C C T rs112149679 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178348.1 +1 validated p.S89 0.996 91 0% 92 34.8% - - - - - NULL SPRR3 6707 genome.wustl.edu 37 1 152975686 152975686 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001097589.1 +1 validated p.P64S 0.082 219 0% 127 33.1% - - benign(0.004) tolerated(0.07) neutral(0.319) HMMPfam_Cornifin SPRR3 6707 genome.wustl.edu 37 1 152975710 152975710 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001097589.1 +1 validated p.P72S 0.805 224 0% 137 16.1% - - benign(0.004) tolerated(0.12) neutral(0.261) HMMPfam_Cornifin SPRR2G 6706 genome.wustl.edu 37 1 153122608 153122608 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001014291.3 -1 validated e1-1 0.579 161 0% 85 15.3% - - - - - - S100A12 6283 genome.wustl.edu 37 1 153346365 153346365 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005621.1 -1 reviewed p.E73* 0.083 398 0% 211 35.1% - - - - - PatternScan_S100_CABP,HMMPfam_efhand,superfamily_SSF47473 S100A13 6284 genome.wustl.edu 37 1 153598840 153598840 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001024210.1 -1 reviewed p.E37K 0.950 186 0% 142 38% - - possibly_damaging(0.948) deleterious(0.01) deleterious(0.796) HMMPfam_S_100,superfamily_SSF47473 NPR1 4881 genome.wustl.edu 37 1 153653680 153653680 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000906.3 +1 validated p.D316Y 1.000 206 0% 105 41% - - benign(0.022) deleterious(0.01) neutral(0.407) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I INTS3 65123 genome.wustl.edu 37 1 153713790 153713790 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023015.3 +1 validated p.E88D 0.979 255 0% 176 39.2% - - benign(0.081) tolerated(0.24) neutral(0.043) NULL SLC27A3 11000 genome.wustl.edu 37 1 153750265 153750265 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024330.1 +1 provisional p.F402L 1.000 164 0% 77 41.6% - - possibly_damaging(0.946) deleterious(0.01) deleterious(0.796) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like DENND4B 9909 genome.wustl.edu 37 1 153910068 153910068 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014856.2 -1 validated p.R710W 0.462 126 0% 94 30.9% - - possibly_damaging(0.943) deleterious(0) deleterious(0.832) NULL DENND4B 9909 genome.wustl.edu 37 1 153916543 153916543 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014856.2 -1 validated p.V103A 1.000 81 0% 54 40.7% - - possibly_damaging(0.888) deleterious(0.02) deleterious(0.730) NULL SLC39A1 27173 genome.wustl.edu 37 1 153933212 153933212 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014437.3 -1 provisional p.E113* 1.000 83 0% 46 13% - - - - - HMMPfam_Zip JTB 10899 genome.wustl.edu 37 1 153947269 153947269 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006694.3 -1 validated p.F109 0.184 162 0% 83 36.1% - - - - - HMMPfam_JTB NUP210L 91181 genome.wustl.edu 37 1 154110676 154110676 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207308.2 -1 validated p.E252D 1.000 176 0% 113 40.7% - - possibly_damaging(0.942) tolerated(0.45) neutral(0.399) NULL NUP210L 91181 genome.wustl.edu 37 1 154112300 154112300 + Missense_Mutation SNP C C T rs182423356 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207308.2 -1 validated p.R232Q 1.000 477 0% 235 31.1% - - benign(0.005) deleterious(0.02) neutral(0.383) NULL C1orf189 388701 genome.wustl.edu 37 1 154173034 154173034 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010979.1 -1 predicted p.W35* 1.000 311 0% 210 35.2% - - - - - NULL UBAP2L 9898 genome.wustl.edu 37 1 154229711 154229711 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014847.3 +1 validated p.R777Q 1.000 352 0.3% 253 35.6% - - unknown(0) tolerated(0.05) - NULL HAX1 10456 genome.wustl.edu 37 1 154247935 154247935 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006118.3 +1 reviewed p.E244K 0.050 393 0.3% 179 27.9% - - probably_damaging(0.982) tolerated(0.09) deleterious(0.723) NULL ATP8B2 57198 genome.wustl.edu 37 1 154306703 154306703 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020452.3 +1 reviewed p.R270Q 1.000 213 0% 133 29.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF81665 IL6R 3570 genome.wustl.edu 37 1 154422420 154422420 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000565.2 +1 reviewed p.L344I 0.000 275 0% 141 22% - - benign(0.005) tolerated(0.46) neutral(0.012) NULL TDRD10 126668 genome.wustl.edu 37 1 154514508 154514508 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098475.1 +1 validated p.E126D 0.000 227 0% 139 30.2% - - benign(0.04) - - NULL CHRNB2 1141 genome.wustl.edu 37 1 154542794 154542794 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000748.2 +1 reviewed p.R106W 1.000 171 0% 105 35.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like PYGO2 90780 genome.wustl.edu 37 1 154931522 154931522 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138300.3 -1 validated p.S318 0.948 31 0% 27 25.9% - - - - - NULL DCST2 127579 genome.wustl.edu 37 1 154996342 154996342 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144622.2 -1 validated p.E612D 0.865 36 0% 32 34.4% - - benign(0.009) tolerated(0.51) neutral(0.009) NULL DCST1 149095 genome.wustl.edu 37 1 155007015 155007015 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152494.2 +1 validated p.A56T 0.305 125 0% 125 39.2% - - benign(0) tolerated(0.58) neutral(0.005) NULL DCST1 149095 genome.wustl.edu 37 1 155019779 155019779 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152494.2 +1 validated p.N535H 0.647 205 0% 97 35.1% - - probably_damaging(0.992) tolerated(0.08) deleterious(0.748) HMMPfam_DC_STAMP ASH1L 55870 genome.wustl.edu 37 1 155317506 155317506 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018489.2 -1 reviewed p.R2582C 1.000 399 0% 277 18.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD ASH1L 55870 genome.wustl.edu 37 1 155330181 155330181 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018489.2 -1 reviewed p.R2236W 1.000 226 0% 124 36.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain ASH1L 55870 genome.wustl.edu 37 1 155330189 155330189 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018489.2 -1 reviewed p.G2233E 1.000 208 0% 120 20.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain ASH1L 55870 genome.wustl.edu 37 1 155448699 155448699 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018489.2 -1 reviewed p.R1321Q 1.000 293 0% 135 40% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ASH1L 55870 genome.wustl.edu 37 1 155449470 155449470 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018489.2 -1 reviewed p.S1064Y 0.999 83 0% 54 35.2% - - benign(0.012) deleterious(0) neutral(0.445) NULL ASH1L 55870 genome.wustl.edu 37 1 155491082 155491082 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018489.2 -1 reviewed p.E77* 1.000 467 0.4% 241 36.5% - - - - - NULL RIT1 6016 genome.wustl.edu 37 1 155880270 155880270 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006912.4 -1 validated p.R45Q 0.997 526 0% 227 39.6% - - possibly_damaging(0.488) tolerated(0.34) neutral(0.185) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases RAB25 57111 genome.wustl.edu 37 1 156035737 156035737 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020387.2 +1 provisional p.N27D 1.000 90 0% 79 38% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 RAB25 57111 genome.wustl.edu 37 1 156039961 156039961 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020387.2 +1 provisional p.A175 0.004 113 0% 91 34.1% - - - - - HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 SEMA4A 64218 genome.wustl.edu 37 1 156144705 156144705 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022367.2 +1 provisional p.R470C 0.094 152 0% 107 36.4% - - possibly_damaging(0.441) deleterious(0.01) deleterious(0.549) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema SMG5 23381 genome.wustl.edu 37 1 156235964 156235964 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015327.2 -1 validated p.R488Q 0.715 127 0.8% 78 20.5% - - benign(0) tolerated(0.64) neutral(0.003) NULL C1orf85 112770 genome.wustl.edu 37 1 156264301 156264301 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144580.1 -1 provisional p.R145I 0.050 203 0% 130 39.2% - - possibly_damaging(0.912) tolerated(0.13) deleterious(0.616) NULL IQGAP3 128239 genome.wustl.edu 37 1 156504323 156504323 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178229.4 -1 validated p.D1237G 0.411 166 0% 102 37.3% - - benign(0) tolerated(0.32) neutral(0.024) HMMSmart_RasGAP,superfamily_Rho_GAP GPATCH4 54865 genome.wustl.edu 37 1 156565237 156565237 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015590.2 -1 validated p.K299T 0.206 843 0% 536 17.7% - - benign(0.074) tolerated(0.06) neutral(0.328) NULL BCAN 63827 genome.wustl.edu 37 1 156616618 156616618 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021948.3 +1 validated p.I39 0.515 10 0.000 9 0.889 - - - - - HMMPfam_V-set ISG20L2 81875 genome.wustl.edu 37 1 156696945 156696945 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030980.1 -1 provisional p.K167T 0.010 240 0% 139 39.6% - - possibly_damaging(0.922) tolerated(0.44) neutral(0.384) superfamily_RNaseH_fold RRNAD1 51093 genome.wustl.edu 37 1 156702825 156702825 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015997.3 +1 validated p.V160M 0.998 248 0% 163 36.8% - - possibly_damaging(0.923) deleterious(0.03) deleterious(0.737) superfamily_SSF53335 NTRK1 4914 genome.wustl.edu 37 1 156811908 156811908 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001007792.1 +1 reviewed p.P15 0.805 341 0% 210 32.4% - - - - - NULL INSRR 3645 genome.wustl.edu 37 1 156819069 156819069 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014215.1 -1 validated p.I471 1.000 228 0% 160 36.9% - - - - - superfamily_SSF52058 LRRC71 149499 genome.wustl.edu 37 1 156894802 156894802 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144702.2 +1 validated p.T196 0.978 114 0% 73 26% - - - - - superfamily_RNI-like LRRC71 149499 genome.wustl.edu 37 1 156899209 156899209 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144702.2 +1 validated p.K378N 1.000 388 0% 150 30.7% - - probably_damaging(0.998) tolerated(0.12) deleterious(0.735) superfamily_RNI-like LRRC71 149499 genome.wustl.edu 37 1 156902674 156902674 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144702.2 +1 validated p.A531 0.003 163 0% 97 46.4% - - - - - superfamily_RNI-like ARHGEF11 9826 genome.wustl.edu 37 1 156909691 156909691 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198236.1 -1 reviewed p.R1249* 1.000 97 0% 60 33.3% - - - - - NULL FCRL4 83417 genome.wustl.edu 37 1 157545322 157545322 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031282.2 -1 reviewed p.E514* 0.005 448 0% 251 29.9% - - - - - NULL FCRL1 115350 genome.wustl.edu 37 1 157772290 157772290 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052938.4 -1 reviewed p.R162C 0.461 141 0% 97 41.2% - - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin CD1C 911 genome.wustl.edu 37 1 158262602 158262602 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001765.2 +1 reviewed p.A276V 0.005 288 0% 163 35% - - possibly_damaging(0.947) deleterious(0.04) deleterious(0.740) HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 CD1C 911 genome.wustl.edu 37 1 158263348 158263348 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000443761 +1 known p.D266N 0.000 177 0% 86 38.4% - - - - - NULL CD1B 910 genome.wustl.edu 37 1 158299170 158299170 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001764.2 -1 reviewed p.I292 0.062 236 0% 179 32.4% - - - - - HMMPfam_C1-set,superfamily_Immunoglobulin OR6P1 128366 genome.wustl.edu 37 1 158532573 158532573 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000334632 -1 known p.I274 0.000 360 0.6% 178 33.1% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR10X1 128367 genome.wustl.edu 37 1 158549268 158549268 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004477.1 -1 provisional p.A141V 1.000 138 0% 61 44.3% - - benign(0.005) deleterious(0) neutral(0.445) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 SPTA1 6708 genome.wustl.edu 37 1 158607931 158607931 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003126.2 -1 reviewed p.R1694H 1.000 287 0% 195 32.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158636153 158636153 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003126.2 -1 reviewed p.R725* 0.947 97 0% 66 40.9% - - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158647500 158647500 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003126.2 -1 reviewed p.L313F 1.000 240 0% 128 17.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat OR6K3 391114 genome.wustl.edu 37 1 158687037 158687037 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005327.2 -1 validated p.S306N 0.031 272 0% 124 35.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81321 OR6K3 391114 genome.wustl.edu 37 1 158687693 158687693 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005327.2 -1 validated p.I87 0.013 282 0% 93 26.9% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR6N1 128372 genome.wustl.edu 37 1 158736155 158736155 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005185.1 -1 provisional p.S106 0.025 203 0% 92 30.4% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 MNDA 4332 genome.wustl.edu 37 1 158819027 158819027 + Nonstop_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002432.1 +1 reviewed p.*408W 0.002 339 0% 159 35.8% - - - - - NULL PYHIN1 149628 genome.wustl.edu 37 1 158909238 158909238 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000368135 +1 known p.L209M 0.001 43 0% 22 31.8% - - probably_damaging(0.977) tolerated(0.23) neutral(0.460) NULL IFI16 3428 genome.wustl.edu 37 1 158988186 158988186 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005531.2 +1 reviewed p.F239L 0.072 274 0% 151 33.8% - - benign(0.151) deleterious(0.01) neutral(0.419) HMMPfam_HIN IFI16 3428 genome.wustl.edu 37 1 159021594 159021594 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005531.2 +1 reviewed p.K541N 0.000 201 0% 104 38.5% - - probably_damaging(0.978) deleterious(0.02) deleterious(0.803) HMMPfam_HIN DARC 2532 genome.wustl.edu 37 1 159176213 159176213 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001122951.1 +1 reviewed p.H330 0.064 259 0% 170 40% - - - - - NULL OR10J3 441911 genome.wustl.edu 37 1 159249386 159249386 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000389011 -1 known p.I293 1.000 67 0% 29 27.6% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR10J3 441911 genome.wustl.edu 37 1 159283916 159283916 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004467.1 -1 provisional p.F178L 0.992 200 0% 96 46.9% - - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_7tm_1,superfamily_SSF81321 OR10J1 26476 genome.wustl.edu 37 1 159336078 159336078 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000328408 +1 known p.V43G 0.000 23 0% 12 41.7% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR10J5 127385 genome.wustl.edu 37 1 159505724 159505724 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004469.1 -1 provisional p.I25K 0.007 102 0% 44 27.3% - - possibly_damaging(0.455) tolerated(0.32) neutral(0.173) superfamily_Family A G protein-coupled receptor-like OR10J5 127385 genome.wustl.edu 37 1 159505786 159505786 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004469.1 -1 provisional p.K4N 1.000 61 0% 24 37.5% - - benign(0.001) tolerated(0.46) neutral(0.012) superfamily_Family A G protein-coupled receptor-like CCDC19 25790 genome.wustl.edu 37 1 159846422 159846422 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012337.2 -1 validated p.E426K 1.000 347 0.3% 261 37.2% - - benign(0.063) tolerated(0.18) neutral(0.060) NULL IGSF9 57549 genome.wustl.edu 37 1 159899439 159899439 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135050.1 -1 validated p.R772H 0.962 28 0% 20 20% - - possibly_damaging(0.832) deleterious(0) deleterious(0.762) NULL ATP1A2 477 genome.wustl.edu 37 1 160093040 160093040 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000702.3 +1 reviewed p.R72Q 1.000 146 0% 122 14.8% - - benign(0.002) tolerated(0.1) neutral(0.286) HMMPfam_Cation_ATPase_N,superfamily_SSF81665 ATP1A2 477 genome.wustl.edu 37 1 160100291 160100291 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000447527 +1 known p.R288Q 0.008 181 0% 90 42.2% - - - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M ATP1A4 480 genome.wustl.edu 37 1 160129294 160129294 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144699.3 +1 reviewed p.F252L 1.000 221 0% 133 21.8% - - probably_damaging(0.973) deleterious(0.01) deleterious(0.821) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_Calcium ATPase transmembrane domain M ATP1A4 480 genome.wustl.edu 37 1 160146276 160146276 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144699.3 +1 reviewed p.A825V 1.000 149 0% 90 38.9% - - probably_damaging(0.994) deleterious(0.04) deleterious(0.801) HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M CASQ1 844 genome.wustl.edu 37 1 160171103 160171103 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001231.4 +1 reviewed p.W370* 1.000 483 0% 253 35.6% - - - - - HMMPfam_Calsequestrin,superfamily_Thiordxn-like_fd,PatternScan_CALSEQUESTRIN_2 DCAF8 50717 genome.wustl.edu 37 1 160195426 160195426 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015726.3 -1 reviewed p.E366D 1.000 347 0% 217 35.5% - - benign(0.027) tolerated(0.34) neutral(0.025) superfamily_WD40 repeat-like PEX19 5824 genome.wustl.edu 37 1 160252819 160252819 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002857.3 -1 reviewed p.F87 0.550 251 0% 146 31.5% - - - - - HMMPfam_Pex19 SLAMF1 6504 genome.wustl.edu 37 1 160607287 160607287 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003037.2 -1 validated p.R37W 0.000 189 0% 95 37.9% - - possibly_damaging(0.461) deleterious(0.03) deleterious(0.515) HMMPfam_SLAM LY9 4063 genome.wustl.edu 37 1 160765992 160765992 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002348.2 +1 validated p.K5N 0.002 253 0% 172 31.4% - - probably_damaging(0.958) deleterious(0.01) deleterious(0.807) NULL LY9 4063 genome.wustl.edu 37 1 160769831 160769831 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002348.2 +1 validated p.F138C 0.002 143 0% 66 13.6% - - benign(0.296) tolerated(0.21) neutral(0.136) HMMSmart_SM00409,superfamily_Immunoglobulin LY9 4063 genome.wustl.edu 37 1 160783468 160783468 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002348.2 +1 validated p.V166A 0.000 177 0% 92 26.1% - - possibly_damaging(0.452) tolerated(0.68) neutral(0.150) superfamily_Immunoglobulin UFC1 51506 genome.wustl.edu 37 1 161123797 161123797 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016406.3 +1 validated p.E4* 1.000 205 0% 148 33.1% - - - - - HMMPfam_UFC1 B4GALT3 8703 genome.wustl.edu 37 1 161143496 161143496 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003779.2 -1 reviewed p.F234 0.996 333 0% 207 40.1% - - - - - HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases ENSG00000237394 0 genome.wustl.edu 37 1 161192228 161192228 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000443363 +1 known p.E55K 0.000 289 0% 191 39.3% - - - - - NULL HSPA6 3310 genome.wustl.edu 37 1 161495834 161495834 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002155.3 +1 validated p.E462 0.994 303 0% 189 34.4% - - - - - HMMPfam_HSP70,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain ATF6 22926 genome.wustl.edu 37 1 161928390 161928390 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007348.2 +1 validated p.P653 0.529 149 0% 134 34.3% - - - - - NULL OLFML2B 25903 genome.wustl.edu 37 1 161967636 161967636 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015441.1 -1 provisional p.D485Y 1.000 196 0% 127 41.7% - - probably_damaging(0.956) tolerated(0.05) deleterious(0.745) NULL OLFML2B 25903 genome.wustl.edu 37 1 161969922 161969922 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015441.1 -1 provisional p.E310D 0.996 131 0% 76 36.8% - - benign(0.021) tolerated(0.42) neutral(0.015) NULL C1orf111 284680 genome.wustl.edu 37 1 162346511 162346511 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182581.3 -1 validated p.D24N 0.063 245 0% 111 25.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UHMK1 127933 genome.wustl.edu 37 1 162470858 162470858 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175866.4 +1 reviewed p.M239I 1.000 238 0% 100 36% - - benign(0) tolerated(0.43) neutral(0.013) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase UHMK1 127933 genome.wustl.edu 37 1 162492196 162492196 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175866.4 +1 reviewed p.V372 1.000 531 0% 283 33.6% - - unknown(0) tolerated(1) - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD RGS5 8490 genome.wustl.edu 37 1 163131717 163131717 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003617.3 -1 validated p.L69M 1.000 225 0% 99 27.3% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS RGS5 8490 genome.wustl.edu 37 1 163138127 163138127 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003617.3 -1 validated p.L26I 1.000 214 0% 116 48.3% - - possibly_damaging(0.882) deleterious(0.02) deleterious(0.728) NULL PBX1 5087 genome.wustl.edu 37 1 164768945 164768945 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002585.2 +1 validated p.E174K 1.000 70 0% 78 17.9% - - possibly_damaging(0.929) tolerated(0.11) deleterious(0.647) HMMPfam_PBC PBX1 5087 genome.wustl.edu 37 1 164790850 164790850 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002585.2 +1 validated p.P396L 1.000 346 0% 217 39.2% - - possibly_damaging(0.928) deleterious(0) deleterious(0.820) NULL LRRC52 440699 genome.wustl.edu 37 1 165532958 165532958 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005214.3 +1 validated p.S280L 0.952 157 0% 96 26% - - benign(0.098) tolerated(0.1) neutral(0.294) NULL MGST3 4259 genome.wustl.edu 37 1 165624648 165624648 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004528.2 +1 reviewed p.L122 0.942 127 0% 65 30.8% - - - - - HMMPfam_MAPEG ALDH9A1 223 genome.wustl.edu 37 1 165636673 165636673 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000696.3 -1 reviewed p.D408Y 1.000 208 0% 91 33% - - benign(0.313) deleterious(0) deleterious(0.542) HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH ILDR2 387597 genome.wustl.edu 37 1 166927185 166927185 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199351.1 -1 provisional p.G67V 0.991 219 0% 110 30% - - probably_damaging(0.999) tolerated(0.34) deleterious(0.513) HMMSmart_IG,superfamily_SSF48726 MAEL 84944 genome.wustl.edu 37 1 166958631 166958631 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032858.1 +1 validated p.F14 1.000 99 0% 64 57.8% - - - - - superfamily_HMG-box,HMMPfam_DUF1898 GPA33 10223 genome.wustl.edu 37 1 167038311 167038311 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005814.1 -1 reviewed p.R88H 0.550 372 0% 204 39.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin DUSP27 92235 genome.wustl.edu 37 1 167064178 167064178 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080426.1 +1 provisional p.R31Q 1.000 55 0% 50 30% - - probably_damaging(0.969) deleterious(0) deleterious(0.856) NULL DUSP27 92235 genome.wustl.edu 37 1 167097729 167097729 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080426.1 +1 provisional p.R1121W 0.995 106 0.9% 44 36.4% - - benign(0.006) tolerated(0.12) neutral(0.261) NULL POU2F1 5451 genome.wustl.edu 37 1 167381535 167381535 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002697.2 +1 provisional p.A609V 1.000 76 0% 64 29.7% - - unknown(0) deleterious(0.01) - NULL CREG1 8804 genome.wustl.edu 37 1 167511536 167511536 + Nonstop_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003851.2 -1 reviewed p.*221L 1.000 139 0% 85 40% - - - - - NULL ADCY10 55811 genome.wustl.edu 37 1 167825520 167825520 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018417.4 -1 reviewed p.A685V 0.948 453 0% 224 33.9% - - possibly_damaging(0.83) tolerated(0.24) neutral(0.353) NULL ADCY10 55811 genome.wustl.edu 37 1 167847689 167847689 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018417.4 -1 reviewed p.E467D 1.000 327 0% 152 31.6% - - probably_damaging(0.996) tolerated(0.18) deleterious(0.518) NULL ADCY10 55811 genome.wustl.edu 37 1 167871259 167871259 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018417.4 -1 reviewed p.F96C 1.000 449 0% 173 43.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_cyc,superfamily_Adenylyl and guanylyl cyclase catalytic domain SFT2D2 375035 genome.wustl.edu 37 1 168201100 168201100 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199344.2 +1 validated p.K60T 0.998 207 0% 105 38.1% - - possibly_damaging(0.437) tolerated(0.11) neutral(0.414) HMMPfam_SFT2 ATP1B1 481 genome.wustl.edu 37 1 169096473 169096473 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001677.3 +1 reviewed p.E132* 0.126 290 0% 122 32.8% - - - - - HMMPfam_Na_K-ATPase C1orf114 57821 genome.wustl.edu 37 1 169390861 169390861 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021179.1 -1 predicted p.E270* 0.992 321 0% 200 16.5% - - - - - NULL C1orf114 57821 genome.wustl.edu 37 1 169390924 169390924 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021179.1 -1 predicted p.E249K 0.955 308 0% 180 35.6% - - benign(0.273) tolerated(0.22) neutral(0.071) NULL F5 2153 genome.wustl.edu 37 1 169511735 169511735 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000130.4 -1 reviewed p.H865Y 0.000 404 0% 206 31.6% - - benign(0.123) tolerated(0.07) neutral(0.329) NULL F5 2153 genome.wustl.edu 37 1 169513613 169513613 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000130.4 -1 reviewed p.I632 1.000 209 0% 90 33.3% - - - - - superfamily_Cupredoxins F5 2153 genome.wustl.edu 37 1 169526089 169526089 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000130.4 -1 reviewed p.A249 0.231 135 0% 89 14.6% - - - - - superfamily_Cupredoxins F5 2153 genome.wustl.edu 37 1 169555523 169555523 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000130.4 -1 reviewed p.F34L 1.000 60 0% 55 47.3% - - possibly_damaging(0.775) deleterious(0) deleterious(0.733) superfamily_Cupredoxins SELP 6403 genome.wustl.edu 37 1 169564014 169564014 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003005.3 -1 reviewed p.L735I 0.996 429 0% 239 38.9% - - benign(0.003) tolerated(0.11) neutral(0.272) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain C1orf112 55732 genome.wustl.edu 37 1 169771776 169771776 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018186.2 +1 predicted p.F27 1.000 109 0% 70 17.1% - - - - - NULL SCYL3 57147 genome.wustl.edu 37 1 169824042 169824042 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181093.2 -1 validated p.S513L 0.000 168 0% 65 47.7% - - benign(0) tolerated(0.37) neutral(0.019) NULL SCYL3 57147 genome.wustl.edu 37 1 169845135 169845135 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181093.2 -1 validated p.S150Y 0.065 277 0% 192 39.6% - - benign(0.412) deleterious(0.05) deleterious(0.478) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat PRRX1 5396 genome.wustl.edu 37 1 170688987 170688987 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022716.2 +1 reviewed p.A121D 0.999 187 0% 117 30.8% - - probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like LOC646804 646804 genome.wustl.edu 37 1 171053032 171053032 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_929761.3 +1 model p.L134I 0.968 124 0% 62 43.5% - - - - - NULL FMO2 2327 genome.wustl.edu 37 1 171165807 171165807 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001460.2 +1 reviewed p.R114I 0.140 260 0% 180 32.8% - - benign(0.327) deleterious(0.02) deleterious(0.485) HMMPfam_FMO-like,superfamily_SSF51905 FMO2 2327 genome.wustl.edu 37 1 171174628 171174628 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001460.2 +1 reviewed p.E346D 0.002 245 0% 123 36.6% - - probably_damaging(0.984) tolerated(0.6) neutral(0.435) HMMPfam_FMO-like FMO1 2326 genome.wustl.edu 37 1 171247878 171247878 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002021.1 +1 reviewed p.A165 0.000 269 0% 133 37.6% - - - - - HMMPfam_FMO-like,superfamily_FAD/NAD(P)-binding domain FMO4 2329 genome.wustl.edu 37 1 171300881 171300881 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002022.1 +1 reviewed p.G196E 1.000 405 0% 189 11.1% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_FMO-like,superfamily_FAD/NAD(P)-binding domain PRRC2C 23215 genome.wustl.edu 37 1 171509585 171509585 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015172.3 +1 validated p.R992C 0.995 87 0% 52 19.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRRC2C 23215 genome.wustl.edu 37 1 171510258 171510258 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015172.3 +1 validated p.R1216Q 1.000 186 0% 109 24.8% - - unknown(0) - - NULL PRRC2C 23215 genome.wustl.edu 37 1 171544120 171544120 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015172.3 +1 validated p.S2268A 0.997 254 0% 146 25.3% - - probably_damaging(0.987) - - NULL PRRC2C 23215 genome.wustl.edu 37 1 171553629 171553629 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015172.3 +1 validated p.F2569L 1.000 59 0% 26 53.8% - - possibly_damaging(0.866) - - NULL PRRC2C 23215 genome.wustl.edu 37 1 171557624 171557624 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015172.3 +1 validated p.P2725S 1.000 262 0% 141 37.6% - - probably_damaging(0.99) - - NULL VAMP4 8674 genome.wustl.edu 37 1 171697709 171697709 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003762.4 -1 reviewed p.R23I 1.000 121 0% 65 36.9% - - possibly_damaging(0.918) deleterious(0.02) deleterious(0.752) NULL C1orf9 51430 genome.wustl.edu 37 1 172559003 172559003 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014283.3 +1 validated p.R921H 1.000 47 0% 27 40.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C1orf9 51430 genome.wustl.edu 37 1 172571286 172571286 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014283.3 +1 validated p.R1034Q 0.996 554 0% 220 30% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL TNFSF18 8995 genome.wustl.edu 37 1 173010677 173010677 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005092.3 -1 reviewed p.D144Y 0.000 442 0.2% 297 38.7% - - possibly_damaging(0.918) deleterious(0.01) deleterious(0.774) HMMPfam_TNF,superfamily_TNF_like TNFSF4 7292 genome.wustl.edu 37 1 173156005 173156005 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003326.3 -1 reviewed e3-1 0.497 114 0% 73 38.4% - - - - - - TNFSF4 7292 genome.wustl.edu 37 1 173157689 173157689 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003326.3 -1 reviewed p.R58Q 0.391 304 0% 110 29.1% - - possibly_damaging(0.516) tolerated(0.08) deleterious(0.473) NULL LOC646870 646870 genome.wustl.edu 37 1 173332507 173332507 + RNA SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_040282.2 -1 model NULL 0.989 95 0% 30 43.3% - - - - - - SLC9A11 284525 genome.wustl.edu 37 1 173503633 173503633 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178527.3 -1 validated p.S655* 0.090 58 0% 19 26.3% - - - - - HMMPfam_Ion_trans SLC9A11 284525 genome.wustl.edu 37 1 173504994 173504994 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178527.3 -1 validated p.E584* 0.344 79 1.3% 47 31.9% - - - - - NULL SLC9A11 284525 genome.wustl.edu 37 1 173567080 173567080 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178527.3 -1 validated p.D107G 0.972 357 0% 188 34.6% - - possibly_damaging(0.773) tolerated(0.48) neutral(0.298) HMMPfam_Na_H_Exchanger KLHL20 27252 genome.wustl.edu 37 1 173722367 173722367 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014458.3 +1 reviewed p.R258C 1.000 208 0% 118 33.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BACK SERPINC1 462 genome.wustl.edu 37 1 173878723 173878723 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000488.3 -1 reviewed p.D374N 1.000 104 0% 56 41.1% - - probably_damaging(0.986) tolerated(0.06) deleterious(0.757) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINC1 462 genome.wustl.edu 37 1 173878808 173878808 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000488.3 -1 reviewed p.E345 0.995 165 0% 118 34.7% - - - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINC1 462 genome.wustl.edu 37 1 173878966 173878966 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000488.3 -1 reviewed p.R293W 0.058 126 0.8% 82 36.6% - - probably_damaging(0.99) tolerated(0.16) deleterious(0.501) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINC1 462 genome.wustl.edu 37 1 173881153 173881153 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000488.3 -1 reviewed e3-1 1.000 401 0% 245 35.1% - - - - - - GPR52 9293 genome.wustl.edu 37 1 174417316 174417316 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005684.4 +1 validated p.E23K 0.995 441 0% 259 38.6% - - benign(0.03) tolerated(0.39) neutral(0.018) superfamily_SSF81321 MRPS14 63931 genome.wustl.edu 37 1 174983923 174983923 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022100.1 -1 reviewed p.R90Q 1.000 140 0% 81 32.1% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Ribosomal_S14,superfamily_SSF57716 TNN 63923 genome.wustl.edu 37 1 175049469 175049469 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022093.1 +1 validated p.L319I 0.012 166 0% 123 36.6% - - benign(0.291) tolerated(0.19) neutral(0.139) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PAPPA2 60676 genome.wustl.edu 37 1 176659367 176659367 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020318.2 +1 validated p.V744 0.998 96 0% 75 33.3% - - - - - "HMMPfam_Peptidase_M43,superfamily_Metalloproteases (""zincins"") catalytic domain" PAPPA2 60676 genome.wustl.edu 37 1 176762725 176762725 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020318.2 +1 validated p.P1684S 0.981 737 0% 407 35.6% - - benign(0.019) tolerated(0.44) neutral(0.014) NULL SEC16B 89866 genome.wustl.edu 37 1 177917021 177917021 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033127.2 -1 validated p.S534 0.891 110 0% 57 36.8% - - - - - NULL RASAL2 9462 genome.wustl.edu 37 1 178411894 178411894 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_170692.2 +1 reviewed p.E320K 1.000 178 0% 117 30.8% - - benign(0.325) deleterious(0) deleterious(0.546) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB C1orf220 400798 genome.wustl.edu 37 1 178514911 178514911 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000319387 +1 known p.K99N 0.009 296 0.3% 145 38.6% - - unknown(0) - - NULL ANGPTL1 9068 genome.wustl.edu 37 1 178834172 178834172 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004673.3 -1 reviewed p.R247I 1.000 185 0% 71 39.4% - - benign(0.424) deleterious(0.03) deleterious(0.502) NULL RALGPS2 55103 genome.wustl.edu 37 1 178846734 178846734 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152663.3 +1 validated p.R237* 1.000 206 0% 131 29% - - - - - HMMSmart_SM00147,superfamily_Ras GEF ABL2 27 genome.wustl.edu 37 1 179076870 179076870 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007314.3 -1 reviewed p.D1178Y 1.000 141 0% 126 34.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_F_actin_bind,HMMSmart_SM00808 ABL2 27 genome.wustl.edu 37 1 179102510 179102510 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007314.3 -1 reviewed e2-1 1.000 424 0% 175 36.6% - - - - - - AXDND1 126859 genome.wustl.edu 37 1 179335721 179335721 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144696.4 +1 validated p.V26A 0.000 201 0% 118 29.7% - - benign(0) tolerated(0.49) neutral(0.011) NULL TDRD5 163589 genome.wustl.edu 37 1 179561762 179561762 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173533.2 +1 provisional p.Q4H 0.987 236 0% 148 31.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TDRD5 163589 genome.wustl.edu 37 1 179605000 179605000 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173533.2 +1 provisional p.E500K 0.993 230 0% 107 17.8% - - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_TUDOR FAM163A 148753 genome.wustl.edu 37 1 179782310 179782310 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173509.2 +1 provisional p.C26 1.000 192 0% 129 43.4% - - - - - NULL CEP350 9857 genome.wustl.edu 37 1 180053257 180053257 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014810.4 +1 reviewed p.K2077Q 1.000 327 0% 105 13.3% - - possibly_damaging(0.898) deleterious(0) deleterious(0.799) NULL CEP350 9857 genome.wustl.edu 37 1 180062302 180062302 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000429851 +1 known p.E529* 0.361 136 0% 90 42.2% - - possibly_damaging(0.698) tolerated(0.18) neutral(0.307) NULL CEP350 9857 genome.wustl.edu 37 1 180062403 180062403 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014810.4 +1 reviewed p.I2388S 0.117 128 0% 80 31.2% - - benign(0.068) deleterious(0.01) neutral(0.410) NULL CEP350 9857 genome.wustl.edu 37 1 180062442 180062442 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014810.4 +1 reviewed p.S2401Y 0.522 115 0% 64 31.2% - - probably_damaging(0.996) tolerated(0.28) deleterious(0.493) NULL CEP350 9857 genome.wustl.edu 37 1 180063252 180063252 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014810.4 +1 reviewed p.S2671F 1.000 103 0% 56 37.5% - - possibly_damaging(0.948) deleterious(0.01) deleterious(0.796) NULL CEP350 9857 genome.wustl.edu 37 1 180063688 180063688 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014810.4 +1 reviewed p.F2816L 0.028 286 0% 157 14% - - benign(0) deleterious(0) neutral(0.445) NULL QSOX1 5768 genome.wustl.edu 37 1 180147955 180147955 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002826.4 +1 reviewed p.A181V 0.966 435 0% 177 41.2% - - - - - NULL QSOX1 5768 genome.wustl.edu 37 1 180163427 180163427 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002826.4 +1 reviewed p.F456 0.771 35 0% 41 43.9% - - - - - HMMPfam_Evr1_Alr,superfamily_FAD-dependent thiol oxidase LHX4 89884 genome.wustl.edu 37 1 180217588 180217588 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033343.2 +1 reviewed p.F82S 1.000 51 0% 37 29.7% - - possibly_damaging(0.762) tolerated(0.07) deleterious(0.601) HMMPfam_LIM,superfamily_SSF57716 LHX4 89884 genome.wustl.edu 37 1 180243658 180243658 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033343.2 +1 reviewed p.D373N 1.000 137 0% 88 29.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIAA1614 57710 genome.wustl.edu 37 1 180914448 180914448 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020950.1 +1 validated p.K1099N 0.002 31 0% 30 50% - - benign(0.187) tolerated(0.06) neutral(0.340) NULL MR1 3140 genome.wustl.edu 37 1 181018211 181018211 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001531.1 +1 provisional p.R31C 0.000 225 0% 158 11.4% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain MR1 3140 genome.wustl.edu 37 1 181021594 181021594 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001531.1 +1 provisional p.Y276 0.600 119 0% 68 45.6% - - - - - PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin MR1 3140 genome.wustl.edu 37 1 181024396 181024396 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001531.1 +1 provisional p.R341* 0.000 527 0% 319 36.1% - - - - - NULL IER5 51278 genome.wustl.edu 37 1 181058869 181058869 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016545.4 +1 validated p.F277L 1.000 54 0% 26 30.8% - - possibly_damaging(0.94) deleterious(0) deleterious(0.830) HMMPfam_IER CACNA1E 777 genome.wustl.edu 37 1 181687205 181687205 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000721.2 +1 reviewed p.L514M 0.195 308 0% 169 30.2% - - possibly_damaging(0.865) deleterious(0.01) deleterious(0.741) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1E 777 genome.wustl.edu 37 1 181701629 181701629 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000721.2 +1 reviewed p.P803S 0.535 195 0% 127 37% - - benign(0.401) deleterious(0.02) deleterious(0.512) NULL CACNA1E 777 genome.wustl.edu 37 1 181726065 181726065 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000721.2 +1 reviewed p.L1378M 0.994 397 0% 216 38% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1E 777 genome.wustl.edu 37 1 181759604 181759604 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000721.2 +1 reviewed p.S1937L 0.995 157 0% 135 37.8% - - benign(0.014) deleterious(0.02) neutral(0.384) NULL CACNA1E 777 genome.wustl.edu 37 1 181767953 181767953 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000721.2 +1 reviewed p.E2266K 1.000 55 0% 34 44.1% - - benign(0.291) deleterious(0.01) deleterious(0.495) NULL ZNF648 127665 genome.wustl.edu 37 1 182026462 182026462 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009992.1 -1 provisional p.R228 0.000 49 0% 51 49% - - - - - NULL ZNF648 127665 genome.wustl.edu 37 1 182026583 182026583 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009992.1 -1 provisional p.S188Y 0.000 119 0% 86 40.7% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL ZNF648 127665 genome.wustl.edu 37 1 182026769 182026769 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009992.1 -1 provisional p.L126R 0.063 189 0% 137 11.7% - - probably_damaging(0.96) tolerated(0.06) deleterious(0.726) NULL RGSL1 353299 genome.wustl.edu 37 1 182443157 182443157 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001137669.1 +1 validated p.R304I 0.000 159 0.6% 102 38.2% - - - - - NULL RGSL1 353299 genome.wustl.edu 37 1 182443434 182443434 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001137669.1 +1 validated p.E396D 0.269 271 0% 177 11.9% - - - - - superfamily_Regulator of G-protein signaling RGS RGSL1 353299 genome.wustl.edu 37 1 182496885 182496885 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001137669.1 +1 validated p.F701L 0.990 132 0% 63 55.6% - - - - - superfamily_Regulator of G-protein signaling RGS RGSL1 353299 genome.wustl.edu 37 1 182517938 182517938 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001137669.1 +1 validated p.V971A 0.018 483 0% 336 36% - - - - - superfamily_Regulator of G-protein signaling RGS NPL 80896 genome.wustl.edu 37 1 182783943 182783943 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030769.1 +1 provisional p.A105V 1.000 271 0% 155 24.5% - - probably_damaging(1) tolerated(0.29) deleterious(0.529) HMMPfam_DHDPS,superfamily_Aldolase DHX9 1660 genome.wustl.edu 37 1 182841526 182841526 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001357.4 +1 reviewed p.R538C 1.000 581 0% 286 35% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases DHX9 1660 genome.wustl.edu 37 1 182845357 182845357 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001357.4 +1 reviewed p.I663S 1.000 568 0% 347 37.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases DHX9 1660 genome.wustl.edu 37 1 182852658 182852658 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001357.4 +1 reviewed p.R1050* 1.000 199 0% 132 18.2% - - - - - HMMPfam_DUF1605 LAMC2 3918 genome.wustl.edu 37 1 183201888 183201888 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005562.2 +1 reviewed p.R706W 0.020 135 0% 93 23.7% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL LAMC2 3918 genome.wustl.edu 37 1 183212401 183212401 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005562.2 +1 reviewed p.R1150C 0.235 146 0% 99 28.3% - - possibly_damaging(0.832) deleterious(0.05) deleterious(0.662) NULL NMNAT2 23057 genome.wustl.edu 37 1 183387338 183387338 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015039.2 -1 reviewed p.K22T 1.000 378 0% 262 35.9% - - benign(0.288) tolerated(0.07) neutral(0.407) HMMPfam_CTP_transf_2,superfamily_Nucleotidylyl transferase SMG7 9887 genome.wustl.edu 37 1 183502380 183502380 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173156.2 +1 validated p.R309C 0.999 366 0.3% 256 17.2% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL APOBEC4 403314 genome.wustl.edu 37 1 183617354 183617354 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_203454.2 -1 reviewed p.P188L 0.998 111 0% 62 48.4% - - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL TSEN15 116461 genome.wustl.edu 37 1 184020954 184020954 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052965.2 +1 validated p.R22H 0.001 29 0% 19 31.6% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL C1orf21 81563 genome.wustl.edu 37 1 184567565 184567565 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030806.3 +1 validated p.F99L 1.000 256 0% 130 33.8% - - possibly_damaging(0.792) deleterious(0) deleterious(0.742) NULL FAM129A 116496 genome.wustl.edu 37 1 184772778 184772778 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052966.2 -1 validated p.A499T 1.000 495 0% 268 36.6% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL TRMT1L 81627 genome.wustl.edu 37 1 185106636 185106636 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000367504 -1 known p.Y350D 0.999 43 0% 29 31% - - benign(0.014) deleterious(0.03) neutral(0.365) HMMPfam_TRM TRMT1L 81627 genome.wustl.edu 37 1 185108630 185108630 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030934.4 -1 reviewed p.V397 1.000 179 0% 88 37.5% - - - - - HMMPfam_TRM,superfamily_S-adenosyl-L-methionine-dependent methyltransferases SWT1 54823 genome.wustl.edu 37 1 185143832 185143832 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105518.1 +1 validated p.E185* 0.016 79 0% 31 22.6% - - - - - NULL IVNS1ABP 10625 genome.wustl.edu 37 1 185269262 185269262 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006469.4 -1 validated p.G457E 1.000 424 0% 211 33.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain IVNS1ABP 10625 genome.wustl.edu 37 1 185270183 185270183 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006469.4 -1 validated p.I347 0.928 432 0% 227 37% - - - - - NULL HMCN1 83872 genome.wustl.edu 37 1 185878628 185878628 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031935.2 +1 reviewed p.R261C 1.000 422 0% 208 23.1% - - probably_damaging(0.968) deleterious(0) deleterious(0.855) NULL HMCN1 83872 genome.wustl.edu 37 1 185892612 185892612 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031935.2 +1 reviewed p.S371Y 0.597 407 0% 179 34.1% - - possibly_damaging(0.519) tolerated(0.09) deleterious(0.471) NULL HMCN1 83872 genome.wustl.edu 37 1 186007158 186007158 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031935.2 +1 reviewed p.P1948S 0.999 302 0% 147 29.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186059977 186059977 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031935.2 +1 reviewed p.G3272V 1.000 361 0% 144 38.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186062646 186062646 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031935.2 +1 reviewed p.D3347 0.323 167 0% 85 38.8% - - - - - HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186141230 186141230 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031935.2 +1 reviewed p.G5261* 1.000 363 0% 149 10.7% - - - - - HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,superfamily_EGF/Laminin PRG4 10216 genome.wustl.edu 37 1 186275713 186275713 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005807.3 +1 reviewed p.E288* 0.006 322 0% 134 17.9% - - - - - NULL PRG4 10216 genome.wustl.edu 37 1 186276315 186276315 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005807.3 +1 reviewed p.K488N 0.002 646 0% 314 35% - - unknown(0) tolerated(0.11) - NULL PRG4 10216 genome.wustl.edu 37 1 186277618 186277618 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005807.3 +1 reviewed p.D923Y 0.001 531 0.2% 231 35.1% - - unknown(0) deleterious(0) - NULL TPR 7175 genome.wustl.edu 37 1 186313627 186313627 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003292.2 -1 reviewed p.A1099 0.996 491 0% 280 41.1% - - - - - HMMPfam_TPR_MLP1_2 TPR 7175 genome.wustl.edu 37 1 186322945 186322945 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003292.2 -1 reviewed p.R737* 1.000 707 0.1% 452 35.8% - - - - - NULL TPR 7175 genome.wustl.edu 37 1 186326602 186326602 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003292.2 -1 reviewed p.Q551K 1.000 444 0% 234 39.3% - - probably_damaging(0.992) tolerated(0.15) deleterious(0.689) NULL PTGS2 5743 genome.wustl.edu 37 1 186648219 186648219 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000963.2 -1 reviewed p.R95Q 0.848 224 0% 98 27.6% - - benign(0.305) tolerated(0.06) neutral(0.417) superfamily_Heme-dependent peroxidases PLA2G4A 5321 genome.wustl.edu 37 1 186863316 186863316 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024420.2 +1 reviewed p.K117N 1.000 384 0% 198 22.2% - - possibly_damaging(0.819) tolerated(0.1) deleterious(0.596) HMMSmart_SM00239,HMMSmart_SM00022,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PLA2G4A 5321 genome.wustl.edu 37 1 186957518 186957518 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024420.2 +1 reviewed p.E710* 0.999 167 0% 87 33.3% - - - - - superfamily_FabD/lysophospholipase-like FAM5C 339479 genome.wustl.edu 37 1 190067327 190067327 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199051.1 -1 provisional p.D708Y 1.000 259 0% 131 35.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FAM5C 339479 genome.wustl.edu 37 1 190068175 190068175 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199051.1 -1 provisional p.S425L 1.000 49 0% 34 38.2% - - benign(0.01) deleterious(0.01) neutral(0.406) NULL FAM5C 339479 genome.wustl.edu 37 1 190250795 190250795 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199051.1 -1 provisional p.F108I 1.000 359 0% 147 37.4% - - benign(0.119) tolerated(0.41) neutral(0.025) HMMPfam_MACPF,HMMSmart_SM00457 RGS18 64407 genome.wustl.edu 37 1 192127783 192127783 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_130782.2 +1 reviewed p.L6F 0.088 150 0% 50 34% - - benign(0.195) tolerated(0.21) neutral(0.062) NULL RGS18 64407 genome.wustl.edu 37 1 192153592 192153592 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_130782.2 +1 reviewed p.P206S 1.000 257 0% 130 30% - - benign(0) tolerated(0.33) neutral(0.024) NULL UCHL5 51377 genome.wustl.edu 37 1 192998688 192998688 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015984.2 -1 validated p.E116* 1.000 169 0% 83 30.1% - - - - - HMMPfam_Peptidase_C12,superfamily_Cysteine proteinases UCHL5 51377 genome.wustl.edu 37 1 193020941 193020941 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015984.2 -1 validated p.R28Q 1.000 99 0% 46 30.4% - - benign(0.021) tolerated(0.24) neutral(0.038) HMMPfam_Peptidase_C12,superfamily_Cysteine proteinases CDC73 79577 genome.wustl.edu 37 1 193119484 193119484 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024529.4 +1 reviewed p.Y293* 0.997 392 0% 185 34.1% - - - - - HMMPfam_CDC73 KCNT2 343450 genome.wustl.edu 37 1 196227623 196227623 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198503.2 -1 validated p.S971Y 1.000 608 0% 283 37.1% - - probably_damaging(0.996) tolerated(0.33) deleterious(0.486) NULL KCNT2 343450 genome.wustl.edu 37 1 196250054 196250054 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198503.2 -1 validated p.S949Y 1.000 263 0% 157 29.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL KCNT2 343450 genome.wustl.edu 37 1 196296002 196296002 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198503.2 -1 validated p.Y707* 1.000 261 0% 145 11.7% - - - - - NULL CFH 3075 genome.wustl.edu 37 1 196695740 196695740 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000186.3 +1 reviewed p.Q672K 0.913 228 0% 98 16.3% - - benign(0.25) tolerated(0.18) neutral(0.082) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain ASPM 259266 genome.wustl.edu 37 1 197073886 197073886 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018136.4 -1 reviewed p.R1499W 0.981 386 0% 172 34.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ZBTB41 360023 genome.wustl.edu 37 1 197128967 197128967 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194314.2 -1 validated p.S751Y 0.998 442 0.2% 191 38.2% - - benign(0.156) deleterious(0.02) neutral(0.397) NULL ZBTB41 360023 genome.wustl.edu 37 1 197169288 197169288 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194314.2 -1 validated p.V106I 0.920 158 0% 81 30.9% - - benign(0.415) deleterious(0) deleterious(0.579) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB DENND1B 163486 genome.wustl.edu 37 1 197581074 197581074 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142795.1 -1 validated p.S249F 1.000 216 0% 105 25.7% - - benign(0.02) deleterious(0.04) neutral(0.350) HMMPfam_DENN,HMMSmart_SM00799 LHX9 56956 genome.wustl.edu 37 1 197889243 197889243 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020204.2 +1 reviewed p.E106K 1.000 94 0% 64 29.7% - - possibly_damaging(0.943) deleterious(0.01) deleterious(0.793) HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) LHX9 56956 genome.wustl.edu 37 1 197896895 197896895 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020204.2 +1 reviewed p.K303T 1.000 340 0% 180 32.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 PTPRC 5788 genome.wustl.edu 37 1 198665999 198665999 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002838.3 +1 reviewed p.P85T 0.000 366 0% 191 35.1% - - benign(0) tolerated(0.13) neutral(0.253) NULL NR5A2 2494 genome.wustl.edu 37 1 200090020 200090020 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_205860.1 +1 validated p.R439C 1.000 413 0% 218 37.2% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain NR5A2 2494 genome.wustl.edu 37 1 200143225 200143225 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_205860.1 +1 validated p.E505K 1.000 119 0% 51 41.2% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain NR5A2 2494 genome.wustl.edu 37 1 200143280 200143280 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_205860.1 +1 validated p.N523T 1.000 107 0% 46 21.7% - - benign(0.145) tolerated(0.15) neutral(0.254) HMMPfam_Hormone_recep,superfamily_Nuclear receptor ligand-binding domain FAM58BP 339521 genome.wustl.edu 37 1 200182877 200182877 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105517.1 +1 provisional p.F62L 1.000 450 0% 233 30.9% - - - - - HMMSmart_CYCLIN,superfamily_Cyclin_like FAM58BP 339521 genome.wustl.edu 37 1 200183162 200183162 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105517.1 +1 provisional p.K157N 0.819 133 0% 85 42.4% - - - - - superfamily_Cyclin_like DDX59 83479 genome.wustl.edu 37 1 200613543 200613543 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031725.4 -1 validated p.T567A 1.000 724 0% 354 31.1% - - possibly_damaging(0.902) tolerated(0.68) neutral(0.359) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX59 83479 genome.wustl.edu 37 1 200619746 200619746 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031725.4 -1 validated p.I374S 0.088 205 0% 116 31.9% - - benign(0.002) deleterious(0.01) neutral(0.406) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases CAMSAP2 23271 genome.wustl.edu 37 1 200730181 200730181 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_203459.1 +1 validated p.E118D 0.917 277 0% 114 31.6% - - benign(0.007) tolerated(1) - NULL CAMSAP2 23271 genome.wustl.edu 37 1 200776524 200776524 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_203459.1 +1 validated p.I140 0.128 240 0.4% 146 42.5% - - - - - NULL CAMSAP2 23271 genome.wustl.edu 37 1 200817508 200817508 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_203459.1 +1 validated p.I537 0.121 73 0% 50 26% - - - - - NULL CACNA1S 779 genome.wustl.edu 37 1 201028413 201028413 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000069.2 -1 reviewed p.S1143 0.011 282 0% 148 33.1% - - - - - superfamily_SSF81324 CACNA1S 779 genome.wustl.edu 37 1 201052335 201052335 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000069.2 -1 reviewed p.A450T 1.000 123 0% 152 29.6% - - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) superfamily_SSF81324 IGFN1 91156 genome.wustl.edu 37 1 201195194 201195194 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000412892 +1 known p.A994V 0.971 68 0% 33 33.3% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III NAV1 89796 genome.wustl.edu 37 1 201618149 201618149 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020443.4 +1 reviewed p.A118V 0.996 57 0% 30 13.3% - - benign(0.003) tolerated(0.08) neutral(0.300) NULL NAV1 89796 genome.wustl.edu 37 1 201781642 201781642 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020443.4 +1 reviewed p.R1689C 1.000 132 0% 79 32.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_AAA NAV1 89796 genome.wustl.edu 37 1 201786409 201786409 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020443.4 +1 reviewed p.P1842H 1.000 145 0% 90 12.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL IPO9 55705 genome.wustl.edu 37 1 201826283 201826283 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018085.4 +1 validated p.F394L 0.998 390 0% 215 36.3% - - possibly_damaging(0.676) tolerated(0.21) neutral(0.284) superfamily_ARM repeat IPO9 55705 genome.wustl.edu 37 1 201839936 201839936 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018085.4 +1 validated p.R787C 1.000 126 0% 80 35% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat IPO9 55705 genome.wustl.edu 37 1 201845203 201845203 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000456707 +1 known p.F104S 0.000 123 0% 124 36.3% - - unknown(0) - - NULL GPR37L1 9283 genome.wustl.edu 37 1 202092436 202092436 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004767.3 +1 validated p.Q115H 0.997 204 0% 146 41.1% - - possibly_damaging(0.688) tolerated(0.19) neutral(0.295) superfamily_Family A G protein-coupled receptor-like LGR6 59352 genome.wustl.edu 37 1 202274869 202274869 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017403.1 +1 reviewed p.L376 1.000 302 0.3% 181 12.2% - - - - - HMMSmart_SM00369,superfamily_RNI-like SYT2 127833 genome.wustl.edu 37 1 202569597 202569597 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136504.1 -1 validated p.E269D 1.000 89 0% 56 32.1% - - possibly_damaging(0.725) tolerated(0.18) neutral(0.320) NULL SYT2 127833 genome.wustl.edu 37 1 202571123 202571123 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136504.1 -1 validated p.F232L 1.000 441 0% 322 17.1% - - probably_damaging(0.983) tolerated(0.06) deleterious(0.752) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB SYT2 127833 genome.wustl.edu 37 1 202574767 202574767 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136504.1 -1 validated p.A45D 0.042 195 0% 130 39.2% - - unknown(0) tolerated(0.73) - NULL SYT2 127833 genome.wustl.edu 37 1 202574775 202574775 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136504.1 -1 validated p.D42 1.000 201 0% 127 31.5% - - - - - NULL KDM5B 10765 genome.wustl.edu 37 1 202705360 202705360 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006618.3 -1 validated p.S1082Y 1.000 247 0% 120 36.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PLU-1 KDM5B 10765 genome.wustl.edu 37 1 202710590 202710590 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006618.3 -1 validated p.P950 0.017 110 0% 52 11.5% - - - - - HMMPfam_PLU-1 ADIPOR1 51094 genome.wustl.edu 37 1 202911204 202911204 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127687.1 -1 validated p.L316 0.986 125 0% 69 47.8% - - - - - HMMPfam_HlyIII TMEM183A 92703 genome.wustl.edu 37 1 202977900 202977900 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138391.4 +1 validated p.R110K 0.370 161 0% 106 31.1% - - benign(0) tolerated(0.57) neutral(0.006) NULL ATP2B4 493 genome.wustl.edu 37 1 203668844 203668844 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001684.3 +1 reviewed p.Y216 0.943 203 0% 128 41.4% - - - - - HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_Calcium ATPase transmembrane domain M ATP2B4 493 genome.wustl.edu 37 1 203676142 203676142 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001684.3 +1 reviewed p.L369F 0.962 386 0% 225 38.7% - - benign(0.001) tolerated(0.33) neutral(0.024) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M ATP2B4 493 genome.wustl.edu 37 1 203680140 203680140 + Silent SNP C C T rs181836521 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001684.3 +1 reviewed p.F645 0.280 180 0% 97 40.2% - - - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M ATP2B4 493 genome.wustl.edu 37 1 203681232 203681232 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001684.3 +1 reviewed p.E726* 1.000 168 0% 103 33% - - - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M SOX13 9580 genome.wustl.edu 37 1 204091088 204091088 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005686.2 +1 reviewed p.A279V 0.891 79 0% 55 30.9% - - benign(0.01) tolerated(0.11) neutral(0.272) NULL REN 5972 genome.wustl.edu 37 1 204125010 204125010 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000537.3 -1 reviewed p.D333N 0.024 158 0% 94 17% - - benign(0.213) tolerated(0.49) neutral(0.032) HMMPfam_Asp,superfamily_Acid proteases GOLT1A 127845 genome.wustl.edu 37 1 204183023 204183023 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198447.1 -1 provisional p.I4 0.996 85 0% 69 34.8% - - - - - NULL PIK3C2B 5287 genome.wustl.edu 37 1 204393999 204393999 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002646.3 -1 reviewed p.R1629Q 0.993 86 0% 71 36.6% - - probably_damaging(0.995) tolerated(0.18) deleterious(0.514) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) LRRN2 10446 genome.wustl.edu 37 1 204588876 204588876 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006338.2 -1 reviewed p.V82A 0.026 84 0% 77 31.2% - - benign(0) tolerated(1) - superfamily_L domain-like NFASC 23114 genome.wustl.edu 37 1 204919703 204919703 + Splice_Site SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000367172 +1 known e2+1 1.000 723 0.1% 424 34.4% - - - - - - NFASC 23114 genome.wustl.edu 37 1 204945944 204945944 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000403080 +1 known p.W618R 0.000 118 0% 64 37.5% - - benign(0.001) deleterious(0) neutral(0.445) NULL CNTN2 6900 genome.wustl.edu 37 1 205027709 205027709 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005076.2 +1 reviewed p.F135L 1.000 55 0% 38 34.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF48726 RBBP5 5929 genome.wustl.edu 37 1 205068201 205068201 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005057.2 -1 reviewed p.E338* 1.000 678 0% 396 33.1% - - - - - superfamily_WD40 repeat-like NUCKS1 64710 genome.wustl.edu 37 1 205688686 205688686 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022731.3 -1 validated p.K167N 1.000 172 0% 117 31.6% - - benign(0.113) deleterious(0.01) neutral(0.415) NULL SLC26A9 115019 genome.wustl.edu 37 1 205889323 205889323 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_134325.2 -1 reviewed p.V697 1.000 987 0% 462 36.6% - - - - - HMMPfam_STAS,superfamily_STAS SLC26A9 115019 genome.wustl.edu 37 1 205892742 205892742 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_134325.2 -1 reviewed e13-1 1.000 281 0% 157 41.4% - - - - - - AVPR1B 553 genome.wustl.edu 37 1 206224451 206224451 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000707.3 +1 reviewed p.G4V 0.000 45 0% 23 39.1% - - benign(0.002) deleterious(0.04) neutral(0.349) NULL IKBKE 9641 genome.wustl.edu 37 1 206649639 206649639 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014002.2 +1 validated p.F158 0.970 222 0% 159 10.7% - - - - - superfamily_Kinase_like,HMMPfam_Pkinase LGTN 100529141 genome.wustl.edu 37 1 206781604 206781604 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006893.2 -1 reviewed p.S136Y 1.000 116 0% 54 31.5% - - benign(0.171) deleterious(0.02) neutral(0.399) HMMSmart_SM00359,superfamily_PUA domain-like MAPKAPK2 9261 genome.wustl.edu 37 1 206902160 206902160 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032960.2 +1 reviewed p.A129T 0.988 60 0% 57 29.8% - - benign(0.028) tolerated(0.57) neutral(0.007) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase IL20 50604 genome.wustl.edu 37 1 207040741 207040741 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018724.3 +1 reviewed p.T131A 0.622 531 0.2% 227 32.6% - - benign(0.001) tolerated(0.85) neutral(0.001) superfamily_4_helix_cytokine,HMMPfam_IL10,HMMSmart_IL10 FCAMR 83953 genome.wustl.edu 37 1 207139192 207139192 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001122979.2 -1 validated p.A61T 0.542 138 0.7% 69 29% - - benign(0.009) tolerated(0.59) neutral(0.005) NULL C1orf116 79098 genome.wustl.edu 37 1 207196680 207196680 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023938.5 -1 validated p.S143 0.991 100 0% 48 12.5% - - - - - NULL PFKFB2 5208 genome.wustl.edu 37 1 207237135 207237135 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006212.2 +1 reviewed p.S156 0.988 303 0% 232 39.2% - - - - - HMMPfam_6PF2K,superfamily_P-loop containing nucleoside triphosphate hydrolases PFKFB2 5208 genome.wustl.edu 37 1 207242845 207242845 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006212.2 +1 reviewed p.K355T 1.000 349 0% 148 39.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PGAM,superfamily_Phosphoglycerate mutase-like C4BPB 725 genome.wustl.edu 37 1 207262916 207262916 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000716.3 +1 reviewed p.R14* 0.073 1313 0% 739 37.8% - - - - - NULL C4BPA 722 genome.wustl.edu 37 1 207314569 207314569 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000715.3 +1 reviewed p.A464 0.000 214 0% 135 34.8% - - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CR2 1380 genome.wustl.edu 37 1 207639999 207639999 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001006658.2 +1 reviewed p.L63 0.000 225 0% 90 33.3% - - - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CR2 1380 genome.wustl.edu 37 1 207648364 207648364 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001006658.2 +1 reviewed p.R840Q 0.000 324 0% 200 33.5% - - benign(0.001) tolerated(0.45) neutral(0.012) NULL CR2 1380 genome.wustl.edu 37 1 207658861 207658861 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001006658.2 +1 reviewed p.E1081* 0.011 136 0% 52 26.9% - - - - - NULL CR1 1378 genome.wustl.edu 37 1 207697226 207697226 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000434033 +1 known p.E229* 0.000 301 0% 186 25.8% - - benign(0.239) deleterious(0.04) neutral(0.373) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CD46 4179 genome.wustl.edu 37 1 207934629 207934629 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172359.1 +1 reviewed p.G171* 0.695 272 0% 155 28.4% - - - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module LOC642587 642587 genome.wustl.edu 37 1 209605637 209605648 + In_Frame_Del DEL AGCAGCAGCAGC AGCAGCAGCAGC - novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 AGCAGCAGCAGC AGCAGCAGCAGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001104548.1 +1 validated p.AAAA88in_frame_del 0.000:0.000:0.000:0.000:0.000:0.002:0.000:0.000:0.000:0.000:0.000:0.000 - - - - - - - - - NULL CAMK1G 57172 genome.wustl.edu 37 1 209779760 209779760 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020439.2 +1 reviewed p.S177 1.000 265 0% 143 18.2% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CAMK1G 57172 genome.wustl.edu 37 1 209784873 209784873 + Missense_Mutation SNP G G T rs187124482 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020439.2 +1 reviewed p.K297N 1.000 182 0% 109 33.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Protein kinase-like (PK-like) LAMB3 3914 genome.wustl.edu 37 1 209797298 209797298 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000228.2 -1 reviewed p.T675M 0.432 128 0% 71 32.4% - - benign(0.08) tolerated(0.37) neutral(0.025) NULL DIEXF 27042 genome.wustl.edu 37 1 210003461 210003461 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014388.5 +1 validated p.R39I 0.776 696 0% 364 29.7% - - benign(0.353) tolerated(0.14) neutral(0.361) NULL SERTAD4 56256 genome.wustl.edu 37 1 210415098 210415098 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019605.3 +1 validated p.E163* 1.000 241 0% 131 42.7% - - - - - NULL HHAT 55733 genome.wustl.edu 37 1 210536252 210536252 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001122834.2 +1 validated p.G50* 1.000 357 0% 160 13.1% - - - - - NULL KCNH1 3756 genome.wustl.edu 37 1 210977486 210977486 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172362.2 -1 reviewed p.F495 0.993 520 0.4% 242 31.8% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels KCNH1 3756 genome.wustl.edu 37 1 211093014 211093014 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172362.2 -1 reviewed p.K477T 1.000 181 0% 125 36% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels KCNH1 3756 genome.wustl.edu 37 1 211093238 211093238 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172362.2 -1 reviewed p.D402E 1.000 348 0% 241 29.5% - - benign(0.003) tolerated(0.36) neutral(0.020) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels NEK2 4751 genome.wustl.edu 37 1 211842553 211842553 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002497.2 -1 validated p.S296L 0.000 403 0% 216 39.4% - - benign(0) tolerated(0.38) neutral(0.018) superfamily_Protein kinase-like (PK-like) PPP2R5A 5525 genome.wustl.edu 37 1 212530319 212530319 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006243.2 +1 reviewed p.I336F 1.000 251 0% 117 40.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_B56,superfamily_ARM repeat PPP2R5A 5525 genome.wustl.edu 37 1 212532091 212532091 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006243.2 +1 reviewed p.F430 0.916 177 0% 124 37.1% - - - - - HMMPfam_B56,superfamily_ARM repeat NENF 29937 genome.wustl.edu 37 1 212619266 212619266 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013349.4 +1 reviewed p.R146I 0.962 214 0% 131 38.9% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL NSL1 25936 genome.wustl.edu 37 1 212965006 212965006 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015471.3 -1 reviewed p.E34* 0.653 22 0% 30 23.3% - - - - - NULL VASH2 79805 genome.wustl.edu 37 1 213134543 213134543 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024749.3 +1 validated p.S104 0.971 492 0% 242 29.8% - - - - - NULL RPS6KC1 26750 genome.wustl.edu 37 1 213290671 213290671 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012424.3 +1 validated p.N131H 0.997 450 0% 217 45.2% - - benign(0.001) tolerated(0.22) neutral(0.042) superfamily_PX domain RPS6KC1 26750 genome.wustl.edu 37 1 213303054 213303054 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012424.3 +1 validated p.E219D 0.955 226 0% 139 12.9% - - benign(0.006) tolerated(0.18) neutral(0.056) NULL RPS6KC1 26750 genome.wustl.edu 37 1 213414990 213414990 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012424.3 +1 validated p.K724R 0.933 146 0% 60 46.7% - - possibly_damaging(0.892) deleterious(0.01) deleterious(0.757) NULL RPS6KC1 26750 genome.wustl.edu 37 1 213434921 213434921 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012424.3 +1 validated p.E978* 1.000 609 0% 300 31% - - - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RPS6KC1 26750 genome.wustl.edu 37 1 213445931 213445931 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012424.3 +1 validated p.S1052Y 1.000 715 0% 423 34.3% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CENPF 1063 genome.wustl.edu 37 1 214787230 214787230 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016343.3 +1 reviewed p.E45K 1.000 133 0% 60 46.7% - - probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_Cenp-F_N CENPF 1063 genome.wustl.edu 37 1 214818706 214818706 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016343.3 +1 reviewed p.E1931D 0.996 93 0% 35 37.1% - - probably_damaging(0.971) tolerated(0.29) neutral(0.442) NULL KCTD3 51133 genome.wustl.edu 37 1 215749301 215749301 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016121.3 +1 validated p.K81E 1.000 232 0% 92 28.3% - - possibly_damaging(0.736) tolerated(0.14) deleterious(0.518) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain KCTD3 51133 genome.wustl.edu 37 1 215793708 215793708 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016121.3 +1 validated p.A732 0.060 231 0% 84 42.9% - - - - - NULL USH2A 7399 genome.wustl.edu 37 1 215847918 215847918 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_206933.2 -1 reviewed p.E4445D 0.672 293 0% 131 32.8% - - benign(0.129) tolerated(0.6) neutral(0.015) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215848350 215848350 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_206933.2 -1 reviewed p.Q4301 0.929 246 0% 90 38.9% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215848668 215848668 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_206933.2 -1 reviewed p.F4195L 0.001 327 0% 159 34.6% - - benign(0) tolerated(0.65) neutral(0.003) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215932006 215932006 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_206933.2 -1 reviewed p.E3774* 1.000 536 0% 268 32.1% - - - - - HMMSmart_SM00060 USH2A 7399 genome.wustl.edu 37 1 215953364 215953364 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_206933.2 -1 reviewed p.Q3587R 1.000 218 0% 139 36% - - benign(0.051) deleterious(0.02) neutral(0.386) superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216373013 216373013 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_206933.2 -1 reviewed p.S1256Y 1.000 223 0% 107 36.4% - - possibly_damaging(0.843) deleterious(0.03) deleterious(0.688) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases USH2A 7399 genome.wustl.edu 37 1 216380709 216380709 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_206933.2 -1 reviewed p.W1074C 1.000 425 0.2% 144 41% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases USH2A 7399 genome.wustl.edu 37 1 216497671 216497671 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_206933.2 -1 reviewed p.F389L 0.999 442 0% 194 34% - - possibly_damaging(0.765) deleterious(0.01) deleterious(0.690) HMMPfam_Laminin_N,HMMSmart_SM00136 USH2A 7399 genome.wustl.edu 37 1 216595278 216595278 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_206933.2 -1 reviewed p.S134N 0.001 287 0% 167 36.5% - - benign(0) tolerated(1) - superfamily_Concanavalin A-like lectins/glucanases ESRRG 2104 genome.wustl.edu 37 1 216824367 216824367 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001438.2 -1 validated p.S179 0.996 350 0% 203 13.3% - - - - - HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain) GPATCH2 55105 genome.wustl.edu 37 1 217665071 217665071 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018040.2 -1 provisional p.R410* 1.000 250 0% 141 23.4% - - - - - NULL LYPLAL1 127018 genome.wustl.edu 37 1 219383881 219383881 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138794.3 +1 validated p.F123L 1.000 236 0% 69 44.9% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Abhydrolase_2,superfamily_alpha/beta-Hydrolases LYPLAL1 127018 genome.wustl.edu 37 1 219385011 219385011 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138794.3 +1 validated p.D219Y 1.000 243 0% 112 37.5% - - benign(0.237) deleterious(0.04) neutral(0.372) HMMPfam_Abhydrolase_2,superfamily_alpha/beta-Hydrolases IARS2 55699 genome.wustl.edu 37 1 220311381 220311381 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018060.3 +1 validated p.S724N 0.005 179 0% 101 37.6% - - benign(0) tolerated(0.37) neutral(0.019) superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases RAB3GAP2 25782 genome.wustl.edu 37 1 220364491 220364491 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012414.3 -1 reviewed p.A469V 1.000 261 0% 142 26.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LOC100287901 100287901 genome.wustl.edu 37 1 221057467 221057467 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342169.1 -1 model p.L236 0.000 33 0% 11 36.4% - - - - - NULL HHIPL2 79802 genome.wustl.edu 37 1 222716944 222716944 + Missense_Mutation SNP C C A rs142197988 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024746.3 -1 validated p.K303N 1.000 159 0% 113 23% - - probably_damaging(0.989) tolerated(0.2) deleterious(0.488) superfamily_Quino_gluc_DH DISP1 84976 genome.wustl.edu 37 1 223177193 223177193 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032890.2 +1 reviewed p.I818 0.423 136 0% 71 19.7% - - - - - HMMPfam_Patched SUSD4 55061 genome.wustl.edu 37 1 223402693 223402693 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017982.3 -1 validated p.F254 1.000 221 0% 126 38.9% - - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SUSD4 55061 genome.wustl.edu 37 1 223438009 223438009 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017982.3 -1 validated p.I229 1.000 163 0% 87 28.7% - - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CAPN8 388743 genome.wustl.edu 37 1 223807110 223807110 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143962.1 -1 validated p.I340 1.000 97 0% 40 40% - - - - - HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases CAPN8 388743 genome.wustl.edu 37 1 223842082 223842082 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143962.1 -1 validated p.Q86R 1.000 384 0% 144 39.6% - - probably_damaging(0.986) tolerated(0.38) neutral(0.452) HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases CAPN2 824 genome.wustl.edu 37 1 223947075 223947075 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001748.4 +1 reviewed p.R474H 1.000 149 0% 102 27.5% - - possibly_damaging(0.691) deleterious(0.04) deleterious(0.597) HMMPfam_Calpain_III,HMMSmart_SM00720,superfamily_Calpain large subunit middle domain (domain III) DEGS1 8560 genome.wustl.edu 37 1 224377383 224377383 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003676.2 +1 reviewed p.D63Y 1.000 162 0% 78 34.6% - - possibly_damaging(0.952) deleterious(0) deleterious(0.840) NULL MIR320B2 100313769 genome.wustl.edu 37 1 224444786 224444786 + RNA SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000408479 -1 known NULL 0.013 183 0% 100 33% - - - - - - DNAH14 127602 genome.wustl.edu 37 1 225380527 225380527 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001373.1 +1 validated p.R1912* 0.996 252 0% 136 32.4% - - - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH14 127602 genome.wustl.edu 37 1 225394715 225394715 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001373.1 +1 validated p.L2056M 0.019 142 0% 93 32.3% - - probably_damaging(0.989) tolerated(0.12) deleterious(0.700) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH14 127602 genome.wustl.edu 37 1 225452926 225452926 + Nonsense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001373.1 +1 validated p.L2416* 0.000 186 0% 83 22.9% - - - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH14 127602 genome.wustl.edu 37 1 225453015 225453015 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001373.1 +1 validated p.L2446I 1.000 188 0% 87 34.5% - - benign(0.21) tolerated(0.05) neutral(0.366) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH14 127602 genome.wustl.edu 37 1 225490969 225490969 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001373.1 +1 validated p.Y2822H 0.995 212 0% 127 29.1% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH14 127602 genome.wustl.edu 37 1 225539517 225539517 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001373.1 +1 validated p.S3729Y 0.000 261 0% 184 30.4% - - benign(0.359) deleterious(0.01) deleterious(0.520) HMMPfam_Dynein_heavy DNAH14 127602 genome.wustl.edu 37 1 225555683 225555683 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001373.1 +1 validated p.Y3996 0.958 158 0% 93 43% - - - - - HMMPfam_Dynein_heavy DNAH14 127602 genome.wustl.edu 37 1 225562424 225562424 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001373.1 +1 validated p.G4025V 0.000 211 0% 123 14.6% - - benign(0.011) tolerated(0.25) neutral(0.037) HMMPfam_Dynein_heavy C1orf55 163859 genome.wustl.edu 37 1 226173130 226173130 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152608.3 -1 validated p.A410V 0.416 208 0% 135 38.5% - - benign(0.148) tolerated(0.12) neutral(0.274) NULL H3F3A 3020 genome.wustl.edu 37 1 226252163 226252163 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002107.3 +1 reviewed p.K37N 1.000 165 0% 50 38% - - possibly_damaging(0.85) - - HMMSmart_SM00428,superfamily_Histone-fold LIN9 286826 genome.wustl.edu 37 1 226475389 226475389 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173083.2 -1 provisional p.E141V 1.000 295 0% 134 17.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C1orf95 375057 genome.wustl.edu 37 1 226784609 226784609 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001003665.2 +1 predicted p.Q103H 1.000 194 0% 144 31.2% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL ITPKB 3707 genome.wustl.edu 37 1 226923701 226923701 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002221.3 -1 reviewed p.D487Y 0.002 51 0% 37 37.8% - - possibly_damaging(0.479) deleterious(0.04) deleterious(0.507) NULL PSEN2 5664 genome.wustl.edu 37 1 227081812 227081812 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000447.2 +1 reviewed p.V393M 1.000 70 0% 47 36.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Presenilin,HMMSmart_SM00730 CDC42BPA 8476 genome.wustl.edu 37 1 227400844 227400844 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003607.3 -1 reviewed p.R116I 1.000 301 0% 104 30.8% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MRPL55 128308 genome.wustl.edu 37 1 228295714 228295714 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181462.2 -1 reviewed p.R33Q 0.000 45 0% 27 51.9% - - benign(0.016) - - NULL OBSCN 84033 genome.wustl.edu 37 1 228470924 228470924 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098623.1 +1 reviewed p.D2892 0.128 27 0% 17 41.2% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228470927 228470927 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098623.1 +1 reviewed p.A2893 0.000 24 0% 19 36.8% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228473933 228473933 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098623.1 +1 reviewed p.I3053 0.002 53 0% 54 31.5% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228480406 228480406 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098623.1 +1 reviewed p.R3596C 0.963 378 0.3% 213 32.9% - - unknown(0) tolerated(0.11) - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228525656 228525656 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000441106 +1 known p.L220I 1.000 194 0% 102 40.2% - - - - - NULL OBSCN 84033 genome.wustl.edu 37 1 228527765 228527765 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098623.1 +1 reviewed p.S5793L 0.998 170 0% 101 37.6% - - probably_damaging(0.978) deleterious(0.01) deleterious(0.826) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) OBSCN 84033 genome.wustl.edu 37 1 228539083 228539083 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098623.1 +1 reviewed p.R6161C 1.000 96 0% 51 39.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin NUP133 55746 genome.wustl.edu 37 1 229631267 229631267 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018230.2 -1 reviewed p.R341* 0.144 638 0% 345 33.3% - - - - - HMMPfam_Nup133_N ABCB10 23456 genome.wustl.edu 37 1 229676434 229676434 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012089.2 -1 reviewed p.I374 0.587 446 0% 206 38.3% - - - - - HMMPfam_ABC_membrane,superfamily_ABC_TM_1 URB2 9816 genome.wustl.edu 37 1 229770932 229770932 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014777.2 +1 provisional p.R191I 0.553 88 0% 64 32.8% - - possibly_damaging(0.922) tolerated(0.06) deleterious(0.694) NULL URB2 9816 genome.wustl.edu 37 1 229795031 229795031 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014777.2 +1 provisional p.R1521I 0.998 122 0% 56 44.6% - - probably_damaging(0.962) deleterious(0.01) deleterious(0.810) NULL GALNT2 2590 genome.wustl.edu 37 1 230372463 230372463 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004481.3 +1 reviewed p.R200Q 1.000 346 0% 143 36.4% - - benign(0.022) tolerated(0.32) neutral(0.025) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases EXOC8 149371 genome.wustl.edu 37 1 231471626 231471626 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175876.3 -1 validated p.K622 0.978 252 0% 188 11.2% - - - - - NULL C1orf124 83932 genome.wustl.edu 37 1 231488776 231488776 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032018.4 +1 validated p.R380I 0.721 151 0% 92 38% - - probably_damaging(0.962) tolerated(0.07) deleterious(0.724) NULL C1orf124 83932 genome.wustl.edu 37 1 231488860 231488860 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032018.4 +1 validated p.R408Q 0.645 119 0% 69 18.8% - - possibly_damaging(0.943) tolerated(0.27) neutral(0.421) NULL EGLN1 54583 genome.wustl.edu 37 1 231506425 231506425 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022051.2 -1 reviewed p.R344Q 1.000 269 0% 141 25.5% - - probably_damaging(0.999) tolerated(0.18) deleterious(0.546) HMMPfam_2OG-FeII_Oxy,HMMSmart_SM00702 DISC1 27185 genome.wustl.edu 37 1 231906689 231906689 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018662.2 +1 reviewed p.D503N 0.959 38 0% 24 54.2% - - probably_damaging(0.999) tolerated(0.23) deleterious(0.532) superfamily_Prefoldin SIPA1L2 57568 genome.wustl.edu 37 1 232534998 232534998 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020808.3 -1 validated p.L1682F 0.997 400 0% 220 36.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SIPA1L2 57568 genome.wustl.edu 37 1 232581433 232581433 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020808.3 -1 validated p.T1065 0.003 69 0% 36 30.6% - - - - - NULL SIPA1L2 57568 genome.wustl.edu 37 1 232649900 232649900 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020808.3 -1 validated p.D396N 1.000 187 0% 104 27.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NTPCR 84284 genome.wustl.edu 37 1 233091383 233091383 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032324.1 +1 provisional p.E39K 1.000 323 0% 118 38.1% - - possibly_damaging(0.889) deleterious(0.05) deleterious(0.695) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases PCNXL2 80003 genome.wustl.edu 37 1 233190032 233190032 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014801.3 -1 provisional p.R1445* 0.994 215 0% 118 28.8% - - - - - NULL TARBP1 6894 genome.wustl.edu 37 1 234565233 234565233 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005646.3 -1 reviewed p.E934* 0.989 131 0% 66 25.8% - - - - - NULL RBM34 23029 genome.wustl.edu 37 1 235295086 235295086 + Missense_Mutation SNP G G A rs188131274 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015014.2 -1 validated p.T407M 1.000 280 0% 151 21.9% - - unknown(0) tolerated(0.1) - NULL RBM34 23029 genome.wustl.edu 37 1 235295218 235295218 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015014.2 -1 validated p.F363C 0.003 240 0% 134 21.6% - - benign(0.001) tolerated(0.21) neutral(0.044) NULL ARID4B 51742 genome.wustl.edu 37 1 235397749 235397749 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016374.5 -1 reviewed p.R215Q 1.000 135 0.7% 72 29.2% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_RBB1NT TBCE 6905 genome.wustl.edu 37 1 235577911 235577911 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079515.1 +1 reviewed p.D117Y 1.000 280 0% 121 27.3% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_SSF52047 LYST 1130 genome.wustl.edu 37 1 235875362 235875362 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000081.2 -1 reviewed p.R3307H 1.000 57 0% 16 31.2% - - probably_damaging(1) - - HMMPfam_Beach,superfamily_BEACH domain LYST 1130 genome.wustl.edu 37 1 235904858 235904858 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000081.2 -1 reviewed p.R2741Q 1.000 487 0% 252 32.9% - - probably_damaging(1) - - NULL LYST 1130 genome.wustl.edu 37 1 235922765 235922765 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000081.2 -1 reviewed p.D2130N 0.564 361 0% 172 43% - - possibly_damaging(0.811) - - NULL LYST 1130 genome.wustl.edu 37 1 235969240 235969240 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000081.2 -1 reviewed p.E1066K 0.065 231 0% 117 23.1% - - possibly_damaging(0.775) deleterious(0.02) deleterious(0.671) NULL LYST 1130 genome.wustl.edu 37 1 235969998 235969998 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000081.2 -1 reviewed p.R813L 1.000 169 0% 92 12% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NID1 4811 genome.wustl.edu 37 1 236143832 236143832 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002508.2 -1 reviewed p.D1117N 1.000 136 0% 77 16.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain ERO1LB 56605 genome.wustl.edu 37 1 236389705 236389705 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019891.3 -1 validated p.L306V 0.998 308 0% 160 23.1% - - benign(0.007) tolerated(1) - HMMPfam_ERO1,superfamily_ERO1 HEATR1 55127 genome.wustl.edu 37 1 236730117 236730117 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018072.4 -1 validated p.I1379 0.998 134 0% 82 34.1% - - - - - superfamily_ARM-type_fold RYR2 6262 genome.wustl.edu 37 1 237664159 237664159 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001035.2 +1 reviewed p.I784 0.283 652 0% 429 38.9% - - - - - HMMPfam_SPRY,HMMSmart_SM00449 RYR2 6262 genome.wustl.edu 37 1 237732586 237732586 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001035.2 +1 reviewed p.E1189* 1.000 579 0% 252 34.9% - - - - - HMMPfam_SPRY,HMMSmart_SM00449 RYR2 6262 genome.wustl.edu 37 1 237755058 237755058 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001035.2 +1 reviewed p.K1394Q 1.000 260 0% 222 35.6% - - benign(0.025) - - NULL RYR2 6262 genome.wustl.edu 37 1 237756813 237756813 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001035.2 +1 reviewed p.P1438L 0.999 325 0% 185 36.8% - - possibly_damaging(0.832) - - HMMPfam_SPRY,HMMSmart_SM00449 RYR2 6262 genome.wustl.edu 37 1 237777627 237777627 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001035.2 +1 reviewed p.T1733 0.003 145 0% 78 37.2% - - - - - NULL RYR2 6262 genome.wustl.edu 37 1 237787152 237787152 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001035.2 +1 reviewed p.D2002Y 1.000 381 0% 189 27% - - possibly_damaging(0.537) - - NULL RYR2 6262 genome.wustl.edu 37 1 237791289 237791289 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001035.2 +1 reviewed p.I2117V 1.000 275 0% 159 32.7% - - benign(0.007) - - NULL RYR2 6262 genome.wustl.edu 37 1 237831213 237831213 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001035.2 +1 reviewed p.H2849N 1.000 168 0% 72 33.3% - - probably_damaging(0.999) - - HMMPfam_RyR RYR2 6262 genome.wustl.edu 37 1 237868521 237868521 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001035.2 +1 reviewed p.S3153F 1.000 462 0% 238 31.5% - - probably_damaging(0.976) - - NULL RYR2 6262 genome.wustl.edu 37 1 237948018 237948018 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001035.2 +1 reviewed p.D4336Y 1.000 146 0% 82 43.9% - - probably_damaging(1) - - HMMPfam_RR_TM4-6 RYR2 6262 genome.wustl.edu 37 1 237969499 237969499 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001035.2 +1 reviewed p.F4738L 1.000 847 0% 466 38.8% - - probably_damaging(0.988) - - HMMPfam_Ion_trans RYR2 6262 genome.wustl.edu 37 1 237969579 237969579 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001035.2 +1 reviewed p.K4765T 1.000 566 0% 298 29.2% - - probably_damaging(0.999) - - HMMPfam_Ion_trans CHRM3 1131 genome.wustl.edu 37 1 240071070 240071070 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000740.2 +1 reviewed p.L107F 1.000 270 0% 179 35.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 FMN2 56776 genome.wustl.edu 37 1 240497516 240497516 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020066.4 +1 validated p.K1584N 0.999 95 0% 43 16.3% - - benign(0.122) tolerated(0.17) neutral(0.069) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd FMN2 56776 genome.wustl.edu 37 1 240635679 240635679 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020066.4 +1 validated p.E1690* 1.000 219 0% 82 30.5% - - - - - superfamily_FH2_actin_bd FMN2 56776 genome.wustl.edu 37 1 240635684 240635684 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020066.4 +1 validated p.A1691 0.967 238 0% 82 46.3% - - - - - superfamily_FH2_actin_bd OPN3 23596 genome.wustl.edu 37 1 241757989 241757989 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014322.2 -1 reviewed p.R317Q 1.000 220 0% 135 25.2% - - probably_damaging(0.997) tolerated(0.08) deleterious(0.766) superfamily_Family A G protein-coupled receptor-like WDR64 128025 genome.wustl.edu 37 1 241875152 241875152 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144625.4 +1 validated p.Y51* 0.997 563 0% 258 33.7% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like WDR64 128025 genome.wustl.edu 37 1 241904856 241904856 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144625.4 +1 validated p.I164L 1.000 336 0% 199 35.2% - - benign(0.122) tolerated(0.2) neutral(0.059) superfamily_WD40 repeat-like WDR64 128025 genome.wustl.edu 37 1 241913010 241913010 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144625.4 +1 validated p.I296V 0.961 298 0% 146 23.3% - - benign(0.001) tolerated(0.14) neutral(0.249) superfamily_WD40 repeat-like EXO1 9156 genome.wustl.edu 37 1 242042136 242042136 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006027.4 +1 reviewed p.E534* 0.001 244 0% 117 30.8% - - - - - NULL EXO1 9156 genome.wustl.edu 37 1 242042355 242042355 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006027.4 +1 reviewed p.S607G 1.000 320 0% 184 14.1% - - benign(0.009) tolerated(0.07) neutral(0.320) NULL EXO1 9156 genome.wustl.edu 37 1 242042541 242042541 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006027.4 +1 reviewed p.E669* 0.000 104 0% 60 31.7% - - - - - NULL SDCCAG8 10806 genome.wustl.edu 37 1 243471352 243471352 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006642.2 +1 validated p.E268* 1.000 323 0% 157 26.8% - - - - - NULL SDCCAG8 10806 genome.wustl.edu 37 1 243471358 243471358 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006642.2 +1 validated p.L270I 1.000 345 0% 162 42.6% - - possibly_damaging(0.461) tolerated(0.22) neutral(0.193) NULL SDCCAG8 10806 genome.wustl.edu 37 1 243589797 243589797 + Missense_Mutation SNP G G T rs34075794 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006642.2 +1 validated p.R641I 0.998 407 0% 146 27.4% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL C1orf100 200159 genome.wustl.edu 37 1 244538733 244538733 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012970.1 +1 predicted p.R39I 0.996 190 0% 101 35.6% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL C1orf100 200159 genome.wustl.edu 37 1 244541860 244541860 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012970.1 +1 predicted p.R82* 0.015 202 0% 106 39.6% - - - - - NULL ADSS 159 genome.wustl.edu 37 1 244600972 244600972 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001126.2 -1 reviewed p.F94L 1.000 204 0% 103 40.8% - - benign(0.005) tolerated(0.87) neutral(0.001) HMMPfam_Adenylsucc_synt,HMMSmart_SM00788,superfamily_P-loop containing nucleoside triphosphate hydrolases C1orf101 257044 genome.wustl.edu 37 1 244640842 244640842 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130957.1 +1 validated e3-1 0.994 346 0% 136 32.4% - - - - - - C1orf101 257044 genome.wustl.edu 37 1 244736068 244736068 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130957.1 +1 validated p.K648N 0.996 78 0% 48 31.2% - - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL C1orf101 257044 genome.wustl.edu 37 1 244803309 244803309 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130957.1 +1 validated p.R928W 0.001 704 0% 395 39.7% - - benign(0) tolerated(0.12) neutral(0.261) NULL HNRNPU 3192 genome.wustl.edu 37 1 245019775 245019775 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031844.2 -1 reviewed p.A632 0.843 626 0% 231 39% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases HNRNPU 3192 genome.wustl.edu 37 1 245020049 245020049 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031844.2 -1 reviewed p.R575Q 1.000 160 0% 91 34.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases HNRNPU 3192 genome.wustl.edu 37 1 245021391 245021391 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031844.2 -1 reviewed p.E472D 0.046 344 0% 193 37.3% - - benign(0.009) tolerated(0.47) neutral(0.011) NULL KIF26B 55083 genome.wustl.edu 37 1 245850935 245850935 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018012.3 +1 provisional p.P1550 0.425 28 0% 38 21.1% - - - - - NULL SMYD3 64754 genome.wustl.edu 37 1 246091336 246091336 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022743.2 -1 validated e6-1 1.000 182 0% 99 31.3% - - - - - - AHCTF1 25909 genome.wustl.edu 37 1 247063645 247063645 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015446.4 -1 validated p.S415L 1.000 103 0% 31 32.3% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL AHCTF1 25909 genome.wustl.edu 37 1 247079561 247079561 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015446.4 -1 validated p.F86L 0.998 214 0% 107 28% - - possibly_damaging(0.921) tolerated(0.08) deleterious(0.671) NULL ZNF695 57116 genome.wustl.edu 37 1 247150534 247150534 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020394.3 -1 validated p.R428I 1.000 145 0% 115 37.4% - - benign(0.044) tolerated(0.33) neutral(0.026) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF695 57116 genome.wustl.edu 37 1 247150870 247150870 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020394.3 -1 validated p.R316I 0.996 143 0% 103 40.8% - - benign(0.167) tolerated(0.32) neutral(0.039) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF669 79862 genome.wustl.edu 37 1 247265337 247265337 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024804.2 -1 validated p.L114F 0.966 218 0% 130 33.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF496 84838 genome.wustl.edu 37 1 247464564 247464564 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032752.1 -1 provisional p.R341* 0.000 56 0% 39 35.9% - - - - - NULL OR2B11 127623 genome.wustl.edu 37 1 247614766 247614766 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004492.1 -1 provisional p.C173 0.988 127 0% 69 37.7% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2W5 441932 genome.wustl.edu 37 1 247654488 247654488 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004698.2 +1 validated p.R20Q 0.002 511 0% 250 34.4% - - - - - superfamily_Family A G protein-coupled receptor-like OR2W5 441932 genome.wustl.edu 37 1 247654969 247654969 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004698.2 +1 validated p.E180 0.903 130 0% 88 43.2% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR14K1 343170 genome.wustl.edu 37 1 247901967 247901967 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000283225 +1 known p.E17D 0.000 177 0.6% 108 29.6% - - benign(0.017) tolerated(1) neutral(0.001) superfamily_SSF81321 OR2M5 127059 genome.wustl.edu 37 1 248308588 248308588 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004690.1 +1 provisional p.L47I 0.000 1097 0.1% 585 36.1% - - possibly_damaging(0.735) tolerated(0.13) deleterious(0.521) HMMPfam_7tm_1,superfamily_SSF81321 OR2M5 127059 genome.wustl.edu 37 1 248308963 248308963 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004690.1 +1 provisional p.R172W 0.000 772 0% 425 35.3% - - benign(0.074) deleterious(0.03) neutral(0.369) HMMPfam_7tm_1,superfamily_SSF81321 OR2M2 391194 genome.wustl.edu 37 1 248344216 248344216 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004688.1 +1 provisional p.S310Y 0.000 415 0% 240 40.8% - - possibly_damaging(0.631) tolerated(1) neutral(0.221) superfamily_SSF81321 OR2M2 391194 genome.wustl.edu 37 1 248344272 248344272 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004688.1 +1 provisional p.L329I 0.000 380 0% 198 33.3% - - unknown(0) tolerated(1) - NULL OR2T33 391195 genome.wustl.edu 37 1 248436884 248436884 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004695.1 -1 provisional p.K78T 0.432 555 0.2% 356 22.5% - - probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2T33 391195 genome.wustl.edu 37 1 248436932 248436932 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004695.1 -1 provisional p.S62N 0.048 610 0% 364 31.9% - - probably_damaging(0.968) deleterious(0.01) deleterious(0.816) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2T12 127064 genome.wustl.edu 37 1 248458162 248458162 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004692.1 -1 provisional p.S240Y 0.000 645 0.2% 371 39.6% - - possibly_damaging(0.939) deleterious(0) deleterious(0.829) HMMPfam_7tm_1,superfamily_SSF81321 OR2T12 127064 genome.wustl.edu 37 1 248458648 248458648 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004692.1 -1 provisional p.K78T 0.002 249 0% 157 15.3% - - probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_7tm_1,superfamily_SSF81321 OR2M7 391196 genome.wustl.edu 37 1 248487125 248487125 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004691.1 -1 provisional p.G249E 0.000 454 0% 266 36.1% - - probably_damaging(0.995) tolerated(0.06) deleterious(0.780) HMMPfam_7tm_1,superfamily_SSF81321 OR14C36 127066 genome.wustl.edu 37 1 248512348 248512348 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001918.1 +1 provisional p.S91Y 0.310 226 0% 206 31.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR14C36 127066 genome.wustl.edu 37 1 248512601 248512601 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001918.1 +1 provisional p.F175L 0.941 430 0% 272 10.7% - - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMPfam_7tm_1,superfamily_SSF81321 OR2T2 401992 genome.wustl.edu 37 1 248616122 248616122 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004136.1 +1 provisional p.Q8H 0.152 619 0% 369 17.1% - - benign(0) tolerated(0.31) neutral(0.027) NULL ZNF692 55657 genome.wustl.edu 37 1 249144602 249144602 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136036.1 -1 provisional p.R461H 0.916 200 0% 147 12.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 PGBD2 267002 genome.wustl.edu 37 1 249211486 249211486 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_170725.2 +1 validated p.E235* 0.012 144 0% 90 38.9% - - - - - NULL ACP1 52 genome.wustl.edu 37 2 277076 277076 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004300.3 +1 reviewed p.D130E 1.000 287 0% 158 25.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_LMWPc,HMMSmart_SM00226,superfamily_Phosphotyrosine protein phosphatases I SNTG2 54221 genome.wustl.edu 37 2 1093886 1093886 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018968.3 +1 reviewed p.R72I 1.000 447 0% 351 47% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PDZ domain-like PXDN 7837 genome.wustl.edu 37 2 1643195 1643195 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012293.1 -1 validated e20-1 1.000 248 0% 159 34.6% - - - - - - MYT1L 23040 genome.wustl.edu 37 2 1926269 1926269 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015025.2 -1 validated p.F424 0.986 305 0% 240 29.6% - - - - - NULL RNASEH1 246243 genome.wustl.edu 37 2 3599783 3599783 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002936.3 -1 validated p.P120 0.000 207 0% 170 31.2% - - - - - NULL SOX11 6664 genome.wustl.edu 37 2 5834120 5834120 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003108.3 +1 reviewed p.E423K 1.000 17 0% 14 35.7% - - benign(0.35) deleterious(0) deleterious(0.555) NULL RNF144A 9781 genome.wustl.edu 37 2 7154897 7154897 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014746.3 +1 reviewed p.E99* 1.000 311 0% 226 27.9% - - - - - HMMPfam_IBR,HMMSmart_IBR KIDINS220 57498 genome.wustl.edu 37 2 8934087 8934087 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020738.2 -1 validated p.R377C 1.000 255 0% 150 44% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat MBOAT2 129642 genome.wustl.edu 37 2 9098719 9098719 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138799.2 -1 validated p.R43Q 1.000 202 0% 113 60.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ITGB1BP1 9270 genome.wustl.edu 37 2 9552496 9552496 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004763.3 -1 reviewed p.R64* 1.000 293 0% 196 25.5% - - - - - HMMSmart_SM00462,HMMPfam_ICAP-1_inte_bdg ADAM17 6868 genome.wustl.edu 37 2 9637279 9637279 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003183.4 -1 reviewed p.E583K 1.000 316 0% 289 47.1% - - benign(0.001) tolerated(0.2) neutral(0.049) NULL ADAM17 6868 genome.wustl.edu 37 2 9666374 9666374 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003183.4 -1 reviewed e6-1 1.000 373 0% 226 46.5% - - - - - - TAF1B 9014 genome.wustl.edu 37 2 10053379 10053379 + Splice_Site SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005680.2 +1 reviewed e12+1 1.000 325 0% 212 42.5% - - - - - - GRHL1 29841 genome.wustl.edu 37 2 10105453 10105453 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198182.2 +1 reviewed p.I162 0.951 276 0% 259 52.5% - - - - - HMMPfam_CP2 RRM2 6241 genome.wustl.edu 37 2 10269488 10269488 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001034.3 +1 reviewed p.S382Y 1.000 229 0% 161 43.5% - - benign(0.072) deleterious(0.04) neutral(0.354) NULL C2orf48 348738 genome.wustl.edu 37 2 10350612 10350612 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182626.1 +1 predicted p.K123N 0.001 71 0% 62 41.9% - - unknown(0) - - NULL ODC1 4953 genome.wustl.edu 37 2 10580954 10580954 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002539.1 -1 reviewed p.E428K 0.140 196 0% 129 31.8% - - benign(0.006) tolerated(0.65) neutral(0.003) NULL NOL10 79954 genome.wustl.edu 37 2 10729370 10729370 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024894.2 -1 validated p.S548L 1.000 637 0% 474 51.5% - - benign(0.01) tolerated(0.05) neutral(0.346) NULL ATP6V1C2 245973 genome.wustl.edu 37 2 10862998 10862998 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039362.1 +1 reviewed p.S8Y 1.000 467 0.2% 351 12% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_V-ATPase_C ROCK2 9475 genome.wustl.edu 37 2 11332628 11332628 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004850.3 -1 reviewed p.C1300R 1.000 238 0% 198 27.8% - - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMSmart_SM00233,HMMPfam_C1_1,HMMSmart_SM00109,superfamily_PH domain-like,superfamily_Cysteine-rich domain ROCK2 9475 genome.wustl.edu 37 2 11367486 11367486 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004850.3 -1 reviewed p.P254 0.936 651 0% 433 52.2% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ROCK2 9475 genome.wustl.edu 37 2 11427799 11427799 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004850.3 -1 reviewed p.D69Y 1.000 86 0% 46 45.7% - - probably_damaging(0.985) deleterious(0.03) deleterious(0.796) superfamily_Protein kinase-like (PK-like) GREB1 9687 genome.wustl.edu 37 2 11738969 11738969 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014668.3 +1 reviewed p.A772 0.794 342 0% 277 26.7% - - - - - NULL GREB1 9687 genome.wustl.edu 37 2 11758812 11758812 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014668.3 +1 reviewed p.S1271P 0.904 32 0% 37 29.7% - - benign(0.001) deleterious(0.03) neutral(0.364) NULL TRIB2 28951 genome.wustl.edu 37 2 12880745 12880745 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021643.3 +1 reviewed p.R286Q 1.000 157 0% 117 16.2% - - benign(0.211) tolerated(0.06) neutral(0.343) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NBAS 51594 genome.wustl.edu 37 2 15417059 15417059 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015909.2 -1 validated p.C1769R 0.944 280 0% 177 14.1% - - probably_damaging(0.984) deleterious(0.03) deleterious(0.795) NULL DDX1 1653 genome.wustl.edu 37 2 15746297 15746297 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004939.1 +1 reviewed p.F242 0.952 139 0% 130 31.5% - - - - - HMMPfam_SPRY,HMMPfam_DEAD,HMMSmart_SM00487,HMMSmart_SM00449,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX1 1653 genome.wustl.edu 37 2 15760382 15760382 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004939.1 +1 reviewed p.S419 0.096 465 0% 254 47.2% - - - - - HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases GEN1 348654 genome.wustl.edu 37 2 17962005 17962005 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130009.1 +1 validated p.S509L 0.000 198 0% 126 27% - - benign(0) tolerated(0.21) neutral(0.044) NULL KCNS3 3790 genome.wustl.edu 37 2 18112325 18112325 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002252.3 +1 reviewed p.V17A 1.000 211 0% 145 17.9% - - benign(0.102) deleterious(0.05) neutral(0.353) HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold NT5C1B 93034 genome.wustl.edu 37 2 18765855 18765855 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001002006.1 -1 validated p.D276 0.000 33 0% 38 60.5% - - unknown(0) - - NULL WDR35 57539 genome.wustl.edu 37 2 20131037 20131037 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001006657.1 -1 reviewed p.S997I 0.959 343 0% 223 50.2% - - benign(0.359) tolerated(0.25) neutral(0.151) NULL APOB 338 genome.wustl.edu 37 2 21228636 21228636 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000384.2 -1 reviewed p.L3702I 0.958 142 0% 83 48.2% - - probably_damaging(0.961) - - NULL APOB 338 genome.wustl.edu 37 2 21232229 21232229 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000384.2 -1 reviewed p.S2504Y 0.000 320 0% 279 51.6% - - possibly_damaging(0.924) - - NULL APOB 338 genome.wustl.edu 37 2 21245748 21245748 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000384.2 -1 reviewed p.F924C 0.976 125 0% 121 53.7% - - benign(0.354) - - HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions APOB 338 genome.wustl.edu 37 2 21249714 21249714 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000384.2 -1 reviewed p.V730 0.999 275 0% 174 47.1% - - - - - HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions APOB 338 genome.wustl.edu 37 2 21260010 21260010 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000384.2 -1 reviewed p.R219C 0.013 308 0% 228 26.3% - - benign(0.023) - - HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions KLHL29 114818 genome.wustl.edu 37 2 23865407 23865407 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000288548 +1 known p.R49H 1.000 36 0% 31 41.9% - - - - - NULL ATAD2B 54454 genome.wustl.edu 37 2 23985121 23985121 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017552.1 -1 validated p.N1118H 1.000 656 0% 370 34.3% - - possibly_damaging(0.447) tolerated(0.1) neutral(0.432) NULL ATAD2B 54454 genome.wustl.edu 37 2 24107638 24107638 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017552.1 -1 validated p.E261* 1.000 601 0% 334 34.7% - - - - - NULL MFSD2B 388931 genome.wustl.edu 37 2 24246968 24246968 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080473.1 +1 provisional p.F439L 0.793 98 0% 83 41% - - benign(0.171) tolerated(0.07) neutral(0.335) superfamily_MFS_gen_substrate_transporter ITSN2 50618 genome.wustl.edu 37 2 24469131 24469131 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000416160 -1 known p.S76F 1.000 298 0% 194 13.4% - - - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain ITSN2 50618 genome.wustl.edu 37 2 24484069 24484069 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006277.2 -1 reviewed p.S863Y 1.000 410 0% 201 10.4% - - possibly_damaging(0.674) deleterious(0.05) deleterious(0.585) NULL NCOA1 8648 genome.wustl.edu 37 2 24974941 24974941 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003743.4 +1 reviewed p.S1266Y 1.000 202 0% 124 31.5% - - possibly_damaging(0.849) deleterious(0) deleterious(0.770) HMMPfam_DUF1518 PTRHD1 391356 genome.wustl.edu 37 2 25013389 25013389 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013663.1 -1 predicted p.H105P 1.000 334 0% 183 43.7% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_PTH2,superfamily_SSF102462 ADCY3 109 genome.wustl.edu 37 2 25048913 25048913 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004036.3 -1 reviewed e15+1 1.000 156 0% 86 39.5% - - - - - - ASXL2 55252 genome.wustl.edu 37 2 26068357 26068357 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018263.4 -1 validated p.E45* 1.000 111 0% 33 45.5% - - - - - NULL KIF3C 3797 genome.wustl.edu 37 2 26203305 26203305 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002254.6 -1 validated p.E494 1.000 162 0% 135 36.3% - - - - - NULL KIF3C 3797 genome.wustl.edu 37 2 26203602 26203602 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002254.6 -1 validated p.E395D 1.000 176 0% 151 17.2% - - benign(0.024) tolerated(0.46) neutral(0.013) NULL HADHB 3032 genome.wustl.edu 37 2 26501519 26501519 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000183.2 +1 reviewed p.I160 0.004 783 0% 490 37.1% - - - - - HMMPfam_Thiolase_N,superfamily_Thiolase-like GPR113 165082 genome.wustl.edu 37 2 26537451 26537451 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145168.1 -1 validated p.W321* 0.972 129 0% 96 28.1% - - - - - NULL OTOF 9381 genome.wustl.edu 37 2 26683855 26683855 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194248.2 -1 reviewed p.K1859N 1.000 57 0% 38 23.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) OTOF 9381 genome.wustl.edu 37 2 26703153 26703153 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194248.2 -1 reviewed p.F610L 1.000 122 0% 83 24.1% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MAPRE3 22924 genome.wustl.edu 37 2 27247038 27247038 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012326.2 +1 reviewed p.F114L 1.000 176 0% 65 35.4% - - benign(0.037) deleterious(0.04) neutral(0.351) HMMPfam_CH,superfamily_Calponin-homology domain CH-domain OST4 100128731 genome.wustl.edu 37 2 27294230 27294230 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134693.1 -1 validated p.K34T 1.000 133 0% 62 24.2% - - - - - HMMPfam_Ost4,superfamily_Oligosaccharyltransferase subunit ost4p EMILIN1 11117 genome.wustl.edu 37 2 27303608 27303608 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007046.3 +1 reviewed p.R100H 1.000 50 0% 34 29.4% - - benign(0.27) deleterious(0.02) neutral(0.412) HMMPfam_EMI EMILIN1 11117 genome.wustl.edu 37 2 27308116 27308116 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000433140 +1 known p.P219H 1.000 275 0% 171 40.9% - - - - - HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like KHK 3795 genome.wustl.edu 37 2 27322540 27322540 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000221.2 +1 reviewed p.S273 0.987 109 0% 102 30.4% - - - - - HMMPfam_PfkB,superfamily_Ribokinase-like C2orf28 51374 genome.wustl.edu 37 2 27439484 27439484 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080592.3 +1 reviewed p.R249H 1.000 533 0% 315 22.9% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL MPV17 4358 genome.wustl.edu 37 2 27535603 27535603 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002437.4 -1 reviewed p.R75W 1.000 736 0% 363 33.9% - - benign(0.025) deleterious(0) neutral(0.446) NULL EIF2B4 8890 genome.wustl.edu 37 2 27591261 27591261 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172195.3 -1 reviewed p.N210D 0.715 376 0% 161 32.9% - - benign(0.01) tolerated(0.67) neutral(0.003) superfamily_NagB/RpiA/CoA transferase-like PPM1G 5496 genome.wustl.edu 37 2 27607947 27607947 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_177983.1 -1 reviewed p.E140* 1.000 102 0% 74 16.2% - - - - - HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C IFT172 26160 genome.wustl.edu 37 2 27672398 27672398 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015662.1 -1 validated p.E1398* 1.000 171 0% 120 42.5% - - - - - NULL IFT172 26160 genome.wustl.edu 37 2 27677499 27677499 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015662.1 -1 validated p.R1134W 1.000 186 0.5% 110 39.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FNDC4 64838 genome.wustl.edu 37 2 27715610 27715610 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022823.2 -1 validated p.D198Y 1.000 472 0% 261 16.9% - - possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL C2orf16 84226 genome.wustl.edu 37 2 27800304 27800304 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032266.3 +1 validated p.E289* 0.369 147 0% 93 49.5% - - - - - NULL C2orf16 84226 genome.wustl.edu 37 2 27804138 27804138 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032266.3 +1 validated p.R1567C 0.000 154 0% 82 39% - - unknown(0) deleterious(0) - NULL ZNF512 84450 genome.wustl.edu 37 2 27830896 27830896 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032434.2 +1 validated p.D374A 1.000 177 0% 63 33.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FOSL2 2355 genome.wustl.edu 37 2 28635251 28635251 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005253.3 +1 reviewed p.R306I 1.000 57 0% 29 20.7% - - probably_damaging(0.96) deleterious(0) deleterious(0.848) NULL PLB1 151056 genome.wustl.edu 37 2 28863842 28863842 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153021.4 +1 validated p.R1383Q 0.997 321 0% 203 40.9% - - probably_damaging(1) tolerated(0.41) deleterious(0.515) NULL PPP1CB 5500 genome.wustl.edu 37 2 29004610 29004610 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002709.2 +1 reviewed p.R141Q 1.000 330 0% 152 30.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases SPDYA 245711 genome.wustl.edu 37 2 29052062 29052062 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142634.1 +1 validated p.E143D 1.000 382 0% 180 10% - - benign(0.002) tolerated(0.18) neutral(0.056) NULL FAM179A 165186 genome.wustl.edu 37 2 29217725 29217725 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199280.2 +1 validated p.E9K 0.008 100 0% 66 31.8% - - benign(0.224) tolerated(0.72) neutral(0.024) NULL C2orf71 388939 genome.wustl.edu 37 2 29295799 29295799 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001029883.1 -1 provisional p.I443 0.000 256 0% 151 32.5% - - - - - NULL CLIP4 79745 genome.wustl.edu 37 2 29356629 29356629 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024692.4 +1 validated p.Y159C 1.000 370 0.3% 185 34.1% - - probably_damaging(0.961) deleterious(0.03) deleterious(0.768) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ALK 238 genome.wustl.edu 37 2 29455225 29455225 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004304.3 -1 reviewed p.E859D 1.000 170 0% 101 27.7% - - probably_damaging(0.999) tolerated(0.22) deleterious(0.532) NULL ALK 238 genome.wustl.edu 37 2 29456524 29456524 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004304.3 -1 reviewed p.N798 0.997 451 0% 285 28.8% - - - - - NULL ALK 238 genome.wustl.edu 37 2 29606657 29606657 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004304.3 -1 reviewed p.S408Y 0.992 158 0% 100 41% - - possibly_damaging(0.834) deleterious(0.01) deleterious(0.724) NULL CAPN13 92291 genome.wustl.edu 37 2 30954256 30954256 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144575.2 -1 validated p.R646H 0.001 331 0% 101 22.8% - - benign(0.045) tolerated(0.38) neutral(0.020) superfamily_EF-hand CAPN14 440854 genome.wustl.edu 37 2 31417277 31417277 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145122.1 -1 validated p.F316L 1.000 223 0% 150 38% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases XDH 7498 genome.wustl.edu 37 2 31605874 31605874 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000379.3 -1 reviewed p.S344Y 1.000 114 0.9% 98 11.2% - - possibly_damaging(0.649) deleterious(0) deleterious(0.672) HMMPfam_FAD_binding_5,superfamily_FAD-binding_2 SRD5A2 6716 genome.wustl.edu 37 2 31758781 31758781 + Missense_Mutation SNP G G T rs28383048 byCluster;by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000233139 -1 known p.L112I 0.017 164 0% 70 37.1% - - - - - HMMPfam_Steroid_dh MEMO1 51072 genome.wustl.edu 37 2 32145881 32145881 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015955.2 -1 validated p.R104H 1.000 141 0% 58 27.6% - - benign(0.001) tolerated(0.16) neutral(0.059) HMMPfam_Memo SLC30A6 55676 genome.wustl.edu 37 2 32445306 32445306 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017964.2 +1 provisional p.R304* 1.000 143 0% 123 26% - - - - - HMMPfam_Cation_efflux BIRC6 57448 genome.wustl.edu 37 2 32640968 32640968 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016252.3 +1 reviewed p.R870Q 1.000 122 0% 63 41.3% - - probably_damaging(0.987) tolerated(0.25) deleterious(0.473) NULL BIRC6 57448 genome.wustl.edu 37 2 32641017 32641017 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016252.3 +1 reviewed p.K886N 1.000 152 0% 82 40.2% - - possibly_damaging(0.784) tolerated(0.42) neutral(0.307) NULL BIRC6 57448 genome.wustl.edu 37 2 32724814 32724814 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016252.3 +1 reviewed p.R2890Q 1.000 387 0% 291 24.7% - - probably_damaging(0.995) tolerated(0.16) deleterious(0.517) NULL TTC27 55622 genome.wustl.edu 37 2 33045992 33045992 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017735.3 +1 provisional p.R840Q 0.994 129 0% 86 30.2% - - probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL RASGRP3 25780 genome.wustl.edu 37 2 33741704 33741704 + Missense_Mutation SNP C C A rs74600205 byCluster;by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001139488.1 +1 validated p.L56I 1.000 370 0.5% 217 35.9% - - possibly_damaging(0.867) tolerated(0.43) neutral(0.350) HMMPfam_RasGEF_N,HMMSmart_SM00229,superfamily_Ras GEF CRIM1 51232 genome.wustl.edu 37 2 36749273 36749273 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016441.1 +1 provisional p.V749I 1.000 354 0% 189 18% - - benign(0.001) tolerated(0.2) neutral(0.049) NULL HEATR5B 54497 genome.wustl.edu 37 2 37295928 37295928 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019024.1 -1 validated p.S358F 1.000 85 0% 50 28% - - probably_damaging(0.975) deleterious(0.01) deleterious(0.823) superfamily_ARM repeat EIF2AK2 5610 genome.wustl.edu 37 2 37374085 37374085 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135651.1 -1 validated p.E51* 0.192 441 0% 255 39.2% - - - - - HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like CEBPZ 10153 genome.wustl.edu 37 2 37454714 37454714 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005760.2 -1 validated p.S541L 1.000 110 0% 53 22.6% - - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_CBF,superfamily_ARM repeat CEBPZ 10153 genome.wustl.edu 37 2 37455856 37455856 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005760.2 -1 validated p.K160N 1.000 383 0% 221 32.1% - - benign(0.253) tolerated(0.24) neutral(0.064) NULL C2orf56 55471 genome.wustl.edu 37 2 37474684 37474684 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144736.4 +1 validated p.R341Q 1.000 246 0% 120 24.2% - - possibly_damaging(0.474) deleterious(0.05) deleterious(0.502) HMMPfam_DUF185 PRKD3 23683 genome.wustl.edu 37 2 37501727 37501727 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005813.3 -1 reviewed p.F496 1.000 231 0% 136 41.2% - - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like PRKD3 23683 genome.wustl.edu 37 2 37506902 37506902 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005813.3 -1 reviewed p.V387I 0.987 241 0% 119 32.8% - - benign(0.001) tolerated(0.34) neutral(0.023) NULL CDC42EP3 10602 genome.wustl.edu 37 2 37873677 37873677 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006449.3 -1 reviewed p.K18N 1.000 588 0% 284 34.5% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL LOC344382 344382 genome.wustl.edu 37 2 38044737 38044737 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_293026.6 +1 model p.S227Y 1.000 295 0% 164 27.4% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like FAM82A1 151393 genome.wustl.edu 37 2 38202383 38202383 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144713.3 +1 validated p.R397Q 0.937 423 0% 188 35.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM82A1 151393 genome.wustl.edu 37 2 38208472 38208472 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000431895 +1 known p.T55A 0.912 244 0% 134 32.1% - - - - - NULL ATL2 64225 genome.wustl.edu 37 2 38540366 38540366 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135673.1 -1 validated p.R244Q 1.000 339 0% 202 24.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases ATL2 64225 genome.wustl.edu 37 2 38546104 38546104 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135673.1 -1 validated p.G141S 1.000 437 0% 242 37.6% - - probably_damaging(0.972) tolerated(0.09) deleterious(0.710) HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases LOC100288550 100288550 genome.wustl.edu 37 2 38709330 38709330 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342215.1 -1 model p.A82S 1.000 154 0% 106 25.5% - - - - - NULL DHX57 90957 genome.wustl.edu 37 2 39029908 39029908 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000452978 -1 known p.R601C 0.889 300 0% 187 32.6% - - - - - NULL DHX57 90957 genome.wustl.edu 37 2 39088970 39088970 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198963.1 -1 provisional p.F194L 0.990 61 0% 45 28.9% - - possibly_damaging(0.942) deleterious(0) deleterious(0.832) HMMPfam_UBA ARHGEF33 100271715 genome.wustl.edu 37 2 39158386 39158386 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145451.2 +1 validated p.E167K 1.000 213 0% 100 39% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL MAP4K3 8491 genome.wustl.edu 37 2 39487798 39487798 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003618.2 -1 reviewed p.R753* 1.000 258 0% 108 23.1% - - - - - HMMPfam_CNH,HMMSmart_SM00036 MAP4K3 8491 genome.wustl.edu 37 2 39583454 39583454 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003618.2 -1 reviewed p.E61K 1.000 458 0% 289 13.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TMEM178 130733 genome.wustl.edu 37 2 39944196 39944196 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152390.2 +1 validated p.S233 0.996 549 0% 230 12.2% - - - - - NULL THUMPD2 80745 genome.wustl.edu 37 2 39998659 39998659 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025264.4 -1 validated p.S53Y 0.730 172 0% 67 37.3% - - possibly_damaging(0.924) deleterious(0.04) deleterious(0.722) NULL SLC8A1 6546 genome.wustl.edu 37 2 40366691 40366691 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021097.2 -1 validated p.N799Y 1.000 279 0% 123 35.8% - - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) NULL EML4 27436 genome.wustl.edu 37 2 42488317 42488317 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019063.3 +1 validated p.S132Y 1.000 468 0% 177 36.7% - - possibly_damaging(0.932) deleterious(0.02) deleterious(0.762) NULL EML4 27436 genome.wustl.edu 37 2 42488344 42488344 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019063.3 +1 validated p.I141T 0.931 598 0% 217 17.5% - - benign(0) tolerated(0.68) neutral(0.002) NULL EML4 27436 genome.wustl.edu 37 2 42490424 42490424 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019063.3 +1 validated p.K207Q 1.000 362 0% 159 11.3% - - possibly_damaging(0.9) tolerated(0.08) deleterious(0.656) NULL THADA 63892 genome.wustl.edu 37 2 43801696 43801696 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001083953.1 -1 validated p.R503I 0.988 168 0% 76 14.5% - - benign(0) tolerated(0.38) neutral(0.018) NULL PLEKHH2 130271 genome.wustl.edu 37 2 43921627 43921627 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172069.3 +1 validated p.E132* 1.000 399 0% 155 20% - - - - - NULL PLEKHH2 130271 genome.wustl.edu 37 2 43933552 43933552 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172069.3 +1 validated p.K606N 0.993 376 0.3% 244 38.1% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL PLEKHH2 130271 genome.wustl.edu 37 2 43937714 43937714 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172069.3 +1 validated p.Q767 1.000 125 0% 57 47.4% - - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ABCG8 64241 genome.wustl.edu 37 2 44099149 44099149 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022437.2 +1 reviewed p.E333 0.809 134 0% 98 37.8% - - - - - NULL LRPPRC 10128 genome.wustl.edu 37 2 44115743 44115743 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133259.3 -1 reviewed p.S1394Y 0.000 394 0% 231 23.8% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL PREPL 9581 genome.wustl.edu 37 2 44573526 44573526 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006036.4 -1 reviewed p.L75I 0.994 461 0% 222 25.2% - - benign(0.006) tolerated(0.21) neutral(0.044) HMMPfam_Peptidase_S9_N SRBD1 55133 genome.wustl.edu 37 2 45826719 45826719 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018079.4 -1 validated p.D173Y 0.903 654 0% 426 36.9% - - benign(0.004) tolerated(0.15) neutral(0.241) NULL SRBD1 55133 genome.wustl.edu 37 2 45829099 45829099 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018079.4 -1 validated p.K68N 0.991 509 0% 216 34.7% - - possibly_damaging(0.718) deleterious(0.02) deleterious(0.643) NULL PRKCE 5581 genome.wustl.edu 37 2 46231741 46231741 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005400.2 +1 reviewed p.R343* 1.000 290 0% 177 39% - - - - - NULL SOCS5 9655 genome.wustl.edu 37 2 46985850 46985850 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014011.4 +1 reviewed p.E61* 1.000 248 0% 106 34% - - - - - NULL SOCS5 9655 genome.wustl.edu 37 2 46985902 46985902 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014011.4 +1 reviewed p.R78K 1.000 227 0% 104 35.6% - - benign(0.002) deleterious(0) neutral(0.445) NULL SOCS5 9655 genome.wustl.edu 37 2 46986073 46986073 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014011.4 +1 reviewed p.S135* 1.000 299 0% 118 43.2% - - - - - NULL SOCS5 9655 genome.wustl.edu 37 2 46986776 46986776 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014011.4 +1 reviewed p.L369 0.048 143 0% 66 31.8% - - - - - NULL SOCS5 9655 genome.wustl.edu 37 2 46986991 46986991 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014011.4 +1 reviewed p.A441V 1.000 198 0% 121 35.5% - - benign(0.018) tolerated(0.26) neutral(0.035) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain MSH2 4436 genome.wustl.edu 37 2 47690230 47690230 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000251.1 +1 reviewed p.E483* 1.000 220 0% 97 26.8% - - - - - HMMPfam_MutS_III,HMMSmart_MUTSd,superfamily_DNA_repair_MutS_domIII,HMMPfam_MutS_IV MSH2 4436 genome.wustl.edu 37 2 47698138 47698138 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000251.1 +1 reviewed p.N566H 1.000 210 0% 72 37.5% - - benign(0.004) tolerated(0.15) neutral(0.241) HMMPfam_MutS_III,HMMSmart_MUTSd,superfamily_DNA_repair_MutS_domIII,HMMPfam_MutS_IV MSH2 4436 genome.wustl.edu 37 2 47707989 47707989 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000251.1 +1 reviewed p.K871N 1.000 257 0% 150 40% - - benign(0.4) tolerated(0.38) neutral(0.146) NULL MSH6 2956 genome.wustl.edu 37 2 48026079 48026079 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000179.2 +1 reviewed p.T319 0.000 121 0.8% 75 32% - - - - - NULL MSH6 2956 genome.wustl.edu 37 2 48028161 48028161 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000179.2 +1 reviewed p.K1013N 1.000 201 0% 111 31.5% - - benign(0.171) tolerated(0.41) neutral(0.030) HMMSmart_SM00533,superfamily_DNA repair protein MutS domain III,HMMPfam_MutS_IV FOXN2 3344 genome.wustl.edu 37 2 48573431 48573431 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002158.3 +1 reviewed p.Q26H 0.987 153 0% 88 44.3% - - benign(0) deleterious(0.02) neutral(0.383) NULL STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48808114 48808114 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172311.1 +1 reviewed p.L114 0.000 380 0% 215 24.7% - - - - - NULL STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48872174 48872174 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172311.1 +1 reviewed p.G806 0.771 287 0% 131 35.9% - - - - - HMMPfam_TFIIA STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48873769 48873769 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172311.1 +1 reviewed p.R893I 0.889 246 0% 131 19.8% - - probably_damaging(0.991) tolerated(0.11) deleterious(0.716) HMMPfam_TFIIA LHCGR 3973 genome.wustl.edu 37 2 48915786 48915786 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000233.3 -1 reviewed p.L384I 0.959 232 0% 127 32.3% - - probably_damaging(0.998) tolerated(0.08) deleterious(0.774) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FSHR 2492 genome.wustl.edu 37 2 49190059 49190059 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000145.3 -1 reviewed p.R634H 1.000 418 0% 200 33% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like FSHR 2492 genome.wustl.edu 37 2 49190434 49190434 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000145.3 -1 reviewed p.S509N 1.000 169 0% 108 49.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NRXN1 9378 genome.wustl.edu 37 2 50779987 50779987 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135659.1 -1 reviewed p.K539N 1.000 498 0% 268 43.3% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_ConA_like_lec_gl PSME4 23198 genome.wustl.edu 37 2 54154542 54154542 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014614.2 -1 validated p.D528Y 1.000 338 0.3% 160 31.9% - - probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL EML6 400954 genome.wustl.edu 37 2 54952363 54952363 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039753.2 +1 validated p.K55N 1.000 37 0% 21 33.3% - - possibly_damaging(0.916) tolerated(0.12) deleterious(0.627) HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase MTIF2 4528 genome.wustl.edu 37 2 55471287 55471287 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005369.1 -1 reviewed p.R397C 1.000 503 0% 234 11.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GTP_EFTU_D2,superfamily_Translat_factor CCDC88A 55704 genome.wustl.edu 37 2 55536357 55536357 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000456975 -1 known p.E352* 1.000 190 0% 93 25.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PUS10 150962 genome.wustl.edu 37 2 61235971 61235971 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144709.2 -1 validated p.K102N 0.000 184 0% 97 21.6% - - benign(0.004) tolerated(0.5) neutral(0.010) NULL C2orf74 339804 genome.wustl.edu 37 2 61391503 61391503 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143959.1 +1 validated p.Q142 0.000 286 0% 188 42.6% - - - - - NULL USP34 9736 genome.wustl.edu 37 2 61417721 61417721 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014709.3 -1 validated p.L3221I 1.000 251 0% 121 40.5% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL USP34 9736 genome.wustl.edu 37 2 61510304 61510304 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014709.3 -1 validated p.K1658N 0.998 232 0.4% 102 35.3% - - benign(0.122) - - NULL USP34 9736 genome.wustl.edu 37 2 61541830 61541830 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014709.3 -1 validated p.E1144 1.000 408 0% 263 33.1% - - - - - NULL USP34 9736 genome.wustl.edu 37 2 61575221 61575221 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014709.3 -1 validated p.R690Q 1.000 211 0% 147 34.7% - - benign(0.097) - - NULL USP34 9736 genome.wustl.edu 37 2 61575499 61575499 + Silent SNP G G A rs139419063 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014709.3 -1 validated p.H597 1.000 136 0% 141 41.1% - - - - - NULL XPO1 7514 genome.wustl.edu 37 2 61715367 61715367 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003400.3 -1 reviewed p.R749Q 1.000 214 0% 179 39.7% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_CRM1_C,superfamily_ARM-type_fold FAM161A 84140 genome.wustl.edu 37 2 62053614 62053614 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032180.2 -1 validated p.E653D 0.008 609 0% 449 36.7% - - unknown(0) tolerated(0.46) - NULL OTX1 5013 genome.wustl.edu 37 2 63280133 63280133 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014562.2 +1 reviewed p.S3Y 1.000 83 0% 42 38.1% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL WDPCP 51057 genome.wustl.edu 37 2 63712074 63712074 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015910.4 -1 validated p.R101* 1.000 559 0% 297 41.1% - - - - - NULL UGP2 7360 genome.wustl.edu 37 2 64084990 64084990 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006759.3 +1 reviewed p.R59W 1.000 263 0% 115 33% - - possibly_damaging(0.755) tolerated(0.1) deleterious(0.565) HMMPfam_UDPGP,superfamily_Nucleotide-diphospho-sugar transferases VPS54 51542 genome.wustl.edu 37 2 64126646 64126646 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016516.2 -1 reviewed p.E899K 1.000 490 0.2% 248 39.5% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL AFTPH 54812 genome.wustl.edu 37 2 64794729 64794729 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_203437.2 +1 validated p.E657K 1.000 188 0% 95 29.5% - - possibly_damaging(0.64) tolerated(0.07) deleterious(0.543) NULL SPRED2 200734 genome.wustl.edu 37 2 65544001 65544001 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181784.2 -1 validated p.S152Y 1.000 444 0% 220 35% - - possibly_damaging(0.508) tolerated(0.79) neutral(0.171) NULL SPRED2 200734 genome.wustl.edu 37 2 65561754 65561754 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181784.2 -1 validated p.E120K 1.000 313 0.3% 162 26.5% - - possibly_damaging(0.492) deleterious(0.01) deleterious(0.570) superfamily_PH domain-like PNO1 56902 genome.wustl.edu 37 2 68385653 68385653 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020143.2 +1 provisional p.E117* 1.000 223 0% 116 24.1% - - - - - NULL PLEK 5341 genome.wustl.edu 37 2 68607531 68607531 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002664.2 +1 validated p.K38N 1.000 152 0% 48 10.4% - - benign(0.099) tolerated(0.2) neutral(0.057) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 APLF 200558 genome.wustl.edu 37 2 68765113 68765113 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173545.2 +1 validated p.S305Y 0.008 164 0% 78 37.2% - - probably_damaging(0.982) deleterious(0.04) deleterious(0.775) NULL ARHGAP25 9938 genome.wustl.edu 37 2 69040538 69040538 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001007231.2 +1 validated p.A264V 0.822 221 0% 151 33.8% - - benign(0) tolerated(0.19) neutral(0.050) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP ARHGAP25 9938 genome.wustl.edu 37 2 69049734 69049734 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001007231.2 +1 validated p.S487Y 1.000 81 0% 31 48.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GKN2 200504 genome.wustl.edu 37 2 69173563 69173563 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182536.2 -1 provisional p.Y115 0.851 196 0% 108 38.9% - - - - - HMMPfam_BRICHOS GFPT1 2673 genome.wustl.edu 37 2 69601212 69601212 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002056.2 -1 reviewed p.R14Q 1.000 174 0% 81 43.2% - - possibly_damaging(0.86) deleterious(0.03) deleterious(0.697) HMMPfam_GATase_2,superfamily_SSF56235 NFU1 27247 genome.wustl.edu 37 2 69659119 69659119 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001002755.1 -1 validated p.K27N 0.096 451 0% 219 40.6% - - benign(0.314) deleterious(0.03) neutral(0.463) NULL SNRNP27 11017 genome.wustl.edu 37 2 70131426 70131426 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006857.1 +1 provisional p.D152N 1.000 493 0% 207 19.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DUF1777 MXD1 4084 genome.wustl.edu 37 2 70143343 70143343 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002357.2 +1 reviewed p.S55I 1.000 384 0% 148 35.1% - - benign(0.037) tolerated(0.1) neutral(0.288) NULL PCBP1 5093 genome.wustl.edu 37 2 70315022 70315022 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006196.3 +1 reviewed p.I49 1.000 112 0% 74 33.8% - - - - - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) PCYOX1 51449 genome.wustl.edu 37 2 70504041 70504041 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016297.3 +1 validated p.T345 1.000 179 0% 104 38.5% - - - - - HMMPfam_Prenylcys_lyase,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_FAD/NAD(P)-binding domain ADD2 119 genome.wustl.edu 37 2 70923524 70923524 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001617.3 -1 reviewed p.V109 1.000 211 0% 127 33.9% - - - - - NULL CLEC4F 165530 genome.wustl.edu 37 2 71043379 71043379 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173535.2 -1 validated p.V378 0.000 285 0% 184 31.5% - - - - - NULL ATP6V1B1 525 genome.wustl.edu 37 2 71191988 71191988 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001692.3 +1 reviewed p.I457 1.000 46 0% 43 34.9% - - - - - NULL NAGK 55577 genome.wustl.edu 37 2 71297660 71297660 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017567.4 +1 validated p.V20I 1.000 273 0% 169 37.9% - - benign(0) tolerated(0.38) neutral(0.018) HMMPfam_BcrAD_BadFG,superfamily_SSF53067 NAGK 55577 genome.wustl.edu 37 2 71300688 71300688 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017567.4 +1 validated p.I181 0.993 238 0% 177 44.1% - - - - - HMMPfam_BcrAD_BadFG,superfamily_SSF53067 ZNF638 27332 genome.wustl.edu 37 2 71591119 71591119 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001014972.1 +1 reviewed p.R485Q 1.000 218 0% 115 13% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZNF638 27332 genome.wustl.edu 37 2 71597123 71597123 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001014972.1 +1 reviewed p.K751N 1.000 148 0% 57 28.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_RNA-binding domain RBD ZNF638 27332 genome.wustl.edu 37 2 71650588 71650588 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001014972.1 +1 reviewed p.F1315C 0.070 187 0% 49 28.6% - - possibly_damaging(0.894) deleterious(0) deleterious(0.796) NULL DYSF 8291 genome.wustl.edu 37 2 71801450 71801450 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130987.1 +1 reviewed p.E1117 1.000 158 0% 86 22.1% - - - - - HMMSmart_DysFC DYSF 8291 genome.wustl.edu 37 2 71906225 71906225 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130987.1 +1 reviewed p.A1975T 1.000 349 0% 229 36.2% - - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMSmart_C2,superfamily_C2_CaLB EXOC6B 23233 genome.wustl.edu 37 2 72722605 72722605 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015189.1 -1 validated p.E503K 1.000 175 0% 67 32.8% - - benign(0.4) tolerated(0.14) neutral(0.378) HMMPfam_Sec15 EXOC6B 23233 genome.wustl.edu 37 2 72722647 72722647 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015189.1 -1 validated p.P489T 1.000 151 0.7% 64 12.5% - - benign(0.358) deleterious(0.01) deleterious(0.519) HMMPfam_Sec15 EXOC6B 23233 genome.wustl.edu 37 2 72786607 72786607 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015189.1 -1 validated p.R297Q 1.000 268 0.4% 78 26.9% - - benign(0.001) deleterious(0.02) neutral(0.383) NULL PRADC1 84279 genome.wustl.edu 37 2 73455965 73455965 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032319.1 -1 provisional p.R135H 1.000 43 0% 45 40% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PA,superfamily_Transferrin receptor ectodomain apical domain CCT7 10574 genome.wustl.edu 37 2 73471807 73471807 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006429.3 +1 reviewed p.M194I 1.000 243 0% 139 23% - - possibly_damaging(0.837) deleterious(0.04) deleterious(0.668) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL-intermediate domain like EGR4 1961 genome.wustl.edu 37 2 73519378 73519378 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001965.3 -1 validated p.G223E 0.994 48 0% 33 24.2% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL ALMS1 7840 genome.wustl.edu 37 2 73677302 73677302 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015120.4 +1 reviewed p.Q1215 0.000 93 0% 63 30.2% - - - - - NULL ALMS1 7840 genome.wustl.edu 37 2 73678125 73678125 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015120.4 +1 reviewed p.P1490S 0.000 170 0% 84 16.7% - - possibly_damaging(0.482) tolerated(0.06) deleterious(0.483) NULL ALMS1 7840 genome.wustl.edu 37 2 73680137 73680137 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015120.4 +1 reviewed p.L2160 0.044 151 0% 102 15.7% - - - - - NULL NAT8 9027 genome.wustl.edu 37 2 73868752 73868752 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003960.3 -1 reviewed p.A2T 1.000 49 0% 31 29% - - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) superfamily_Acyl_CoA_acyltransferase TET3 200424 genome.wustl.edu 37 2 74275514 74275514 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144993.1 +1 provisional p.E689K 1.000 131 0% 75 38.7% - - possibly_damaging(0.506) deleterious(0.01) deleterious(0.575) NULL DCTN1 1639 genome.wustl.edu 37 2 74601462 74601462 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004082.3 -1 reviewed p.P140 1.000 240 0% 103 34% - - - - - NULL RTKN 6242 genome.wustl.edu 37 2 74654712 74654712 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001015055.1 -1 reviewed p.R365Q 1.000 168 0% 121 36.4% - - benign(0.141) tolerated(0.05) neutral(0.357) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like AUP1 550 genome.wustl.edu 37 2 74754150 74754150 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181575.3 -1 reviewed p.A372T 1.000 168 0% 100 33% - - benign(0.262) deleterious(0.04) neutral(0.377) NULL SEMA4F 10505 genome.wustl.edu 37 2 74902890 74902890 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004263.3 +1 provisional p.V499 0.608 216 0% 121 26.4% - - - - - superfamily_Sema domain REG1B 5968 genome.wustl.edu 37 2 79312369 79312369 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006507.3 -1 reviewed p.F158L 0.019 422 0% 274 34.3% - - unknown(0) - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 REG1B 5968 genome.wustl.edu 37 2 79312539 79312539 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000454188 -1 known p.R122K 0.000 124 0% 81 39.5% - - unknown(0) - - NULL REG3A 5068 genome.wustl.edu 37 2 79385837 79385837 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002580.1 -1 reviewed p.K45N 0.000 570 0% 274 38% - - benign(0.009) tolerated(0.62) neutral(0.005) HMMSmart_SM00034,superfamily_C-type lectin-like LRRTM1 347730 genome.wustl.edu 37 2 80530146 80530146 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178839.4 -1 validated p.E267K 1.000 130 0% 96 43.8% - - probably_damaging(0.998) tolerated(0.06) deleterious(0.797) HMMPfam_LRR_1,superfamily_SSF52058 CTNNA2 1496 genome.wustl.edu 37 2 80874923 80874923 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004389.3 +1 validated p.R882* 0.998 124 0% 70 68.6% - - - - - NULL SUCLG1 8802 genome.wustl.edu 37 2 84658721 84658721 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003849.3 -1 reviewed p.D246N 1.000 347 0% 176 35.8% - - possibly_damaging(0.948) deleterious(0.01) deleterious(0.796) HMMPfam_Ligase_CoA,superfamily_CoA_ligase DNAH6 1768 genome.wustl.edu 37 2 84785029 84785029 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001370.1 +1 validated p.K591N 0.835 153 0% 109 34.9% - - benign(0.004) tolerated(0.49) neutral(0.011) NULL DNAH6 1768 genome.wustl.edu 37 2 84867634 84867634 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001370.1 +1 validated p.E1634D 0.986 187 0% 69 20.3% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH6 1768 genome.wustl.edu 37 2 84897585 84897585 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001370.1 +1 validated p.R2147I 1.000 195 0% 104 34.6% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH6 1768 genome.wustl.edu 37 2 84930528 84930528 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001370.1 +1 validated p.R2691W 1.000 172 0% 52 44.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNAH6 1768 genome.wustl.edu 37 2 84932821 84932821 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001370.1 +1 validated p.R2893* 0.999 325 0% 164 36.6% - - - - - NULL KCMF1 56888 genome.wustl.edu 37 2 85255047 85255047 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020122.4 +1 validated p.R18* 1.000 300 0% 148 31.1% - - - - - HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1 KCMF1 56888 genome.wustl.edu 37 2 85255079 85255079 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020122.4 +1 validated p.Y28 1.000 307 0% 164 38.4% - - - - - HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1 TCF7L1 83439 genome.wustl.edu 37 2 85529726 85529726 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031283.1 +1 provisional p.I215 0.803 217 0% 112 44.6% - - - - - HMMPfam_CTNNB1_binding ELMOD3 84173 genome.wustl.edu 37 2 85598248 85598248 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032213.4 +1 validated p.A134T 0.997 98 1% 91 37.4% - - benign(0.195) tolerated(0.06) neutral(0.341) NULL SH2D6 284948 genome.wustl.edu 37 2 85663670 85663670 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198482.1 +1 provisional p.E165K 0.025 52 0% 56 14.3% - - benign(0.014) tolerated(0.33) neutral(0.025) superfamily_SH2 domain GGCX 2677 genome.wustl.edu 37 2 85777112 85777112 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000821.4 -1 reviewed p.S741Y 0.385 149 0% 64 42.2% - - benign(0.427) deleterious(0) deleterious(0.584) NULL GGCX 2677 genome.wustl.edu 37 2 85777744 85777744 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000821.4 -1 reviewed p.R673Q 1.000 221 0% 108 24.1% - - possibly_damaging(0.949) deleterious(0.02) deleterious(0.776) NULL GGCX 2677 genome.wustl.edu 37 2 85778720 85778720 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000821.4 -1 reviewed p.E541D 1.000 156 0% 104 38.5% - - possibly_damaging(0.947) tolerated(0.16) neutral(0.450) superfamily_RmlC_like_cupin ST3GAL5 8869 genome.wustl.edu 37 2 86067399 86067399 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003896.3 -1 reviewed p.F375 0.950 245 0% 184 34.2% - - - - - HMMPfam_Glyco_transf_29 ST3GAL5 8869 genome.wustl.edu 37 2 86090563 86090563 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003896.3 -1 reviewed p.S43L 0.471 305 0% 187 43.9% - - benign(0.005) deleterious(0) neutral(0.445) NULL PLGLB1 5343 genome.wustl.edu 37 2 87248885 87248885 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001032392.2 -1 validated p.L8F 0.639 469 0% 175 10.3% - - benign(0.078) tolerated(0.25) neutral(0.042) NULL LINC00152 112597 genome.wustl.edu 37 2 87821006 87821006 + RNA SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_024204.1 +1 validated NULL 0.111 392 0% 217 27.6% - - - - - - SMYD1 150572 genome.wustl.edu 37 2 88407889 88407889 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198274.2 +1 provisional e9-1 1.000 155 0.6% 108 45.4% - - - - - - FABP1 2168 genome.wustl.edu 37 2 88424027 88424027 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001443.1 -1 reviewed p.D107N 0.999 259 0% 174 37.4% - - benign(0.003) tolerated(0.67) neutral(0.003) HMMPfam_Lipocalin,superfamily_Lipocalins THNSL2 55258 genome.wustl.edu 37 2 88474234 88474234 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018271.3 +1 validated p.N100 0.924 363 0% 203 28.6% - - - - - HMMPfam_PALP,superfamily_Tryptophan synthase beta subunit-like PLP-dependent enzymes EIF2AK3 9451 genome.wustl.edu 37 2 88876187 88876187 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004836.5 -1 reviewed p.K641E 1.000 279 0% 148 42.6% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ANKRD36BP2 645784 genome.wustl.edu 37 2 89092005 89092005 + RNA SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_015424.1 +1 predicted NULL 0.122 504 0% 223 34.1% - - - - - - LOC100132330 100132330 genome.wustl.edu 37 2 89117847 89117847 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001719152.1 -1 model p.L50I 0.936 93 0% 36 27.8% - - - - - HMMPfam_MARVEL IGKV1-8 28942 genome.wustl.edu 37 2 89292368 89292368 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000495489 -1 known p.L10 0.831 542 0% 339 40.1% - - - - - NULL IGKV1-16 28938 genome.wustl.edu 37 2 89399364 89399364 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000479981 -1 known p.Y113 0.000 818 0% 403 33.3% - - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGKV2D-29 28882 genome.wustl.edu 37 2 89986797 89986797 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000491977 +1 known p.Q26H 1.000 182 0% 115 34.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_V-set,superfamily_Immunoglobulin IGKV1D-13 28902 genome.wustl.edu 37 2 90193393 90193393 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000390275 +1 known p.T107N 0.004 891 0% 404 15.1% - - benign(0.081) tolerated(0.08) neutral(0.306) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 ZNF514 84874 genome.wustl.edu 37 2 95815627 95815627 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032788.1 -1 provisional p.K201N 1.000 202 0% 141 26.2% - - probably_damaging(0.98) deleterious(0.01) deleterious(0.830) superfamily_SSF57667 LOC344065 344065 genome.wustl.edu 37 2 95880756 95880756 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_292895.7 +1 model p.R341Q 1.000 118 0% 83 28.9% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC344065 344065 genome.wustl.edu 37 2 95881263 95881263 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_292895.7 +1 model p.T510N 0.998 48 0% 16 25% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC400986 400986 genome.wustl.edu 37 2 96525670 96525670 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001717763.2 -1 model p.E931* 0.256 1137 0.6% 472 21.2% - - - - - NULL LOC400986 400986 genome.wustl.edu 37 2 96542246 96542246 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001717763.2 -1 model p.E813* 0.204 778 0% 352 10.2% - - - - - NULL ENSG00000174501 0 genome.wustl.edu 37 2 96563030 96563030 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000420871 -1 known p.K269E 0.001 183 0% 83 39.8% - - possibly_damaging(0.653) tolerated(0.15) deleterious(0.471) NULL GPAT2 150763 genome.wustl.edu 37 2 96690383 96690383 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207328.2 -1 validated p.E487 0.995 73 0% 47 42.6% - - - - - NULL GPAT2 150763 genome.wustl.edu 37 2 96696591 96696591 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207328.2 -1 validated p.R86Q 1.000 127 0% 60 28.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GPAT2 150763 genome.wustl.edu 37 2 96697880 96697880 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207328.2 -1 validated p.S26 0.998 234 0% 124 23.4% - - - - - NULL ADRA2B 151 genome.wustl.edu 37 2 96781139 96781139 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000409345 -1 known p.S250 0.001 27 0% 19 42.1% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ADRA2B 151 genome.wustl.edu 37 2 96781843 96781843 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000409345 -1 known p.A16T 1.000 43 0% 32 50% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) superfamily_Family A G protein-coupled receptor-like SNRNP200 23020 genome.wustl.edu 37 2 96963436 96963436 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014014.3 -1 reviewed p.R381Q 0.998 202 0% 126 22.2% - - benign(0.06) tolerated(0.37) neutral(0.023) superfamily_P-loop containing nucleoside triphosphate hydrolases LMAN2L 81562 genome.wustl.edu 37 2 97377656 97377656 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142292.1 -1 validated p.R216H 1.000 63 0% 46 43.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lectin_leg-like,superfamily_ConA_like_lec_gl ANKRD23 200539 genome.wustl.edu 37 2 97506638 97506638 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144994.7 -1 reviewed p.Q104 0.988 94 0% 65 50.8% - - - - - superfamily_Ankyrin repeat FAM178B 51252 genome.wustl.edu 37 2 97568437 97568437 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001122646.2 -1 validated p.R492* 0.975 66 0% 51 39.2% - - - - - NULL LOC653924 653924 genome.wustl.edu 37 2 97748159 97748159 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001719255.2 +1 model p.F154V 0.982 90 0% 47 14.9% - - - - - NULL ANKRD36B 57730 genome.wustl.edu 37 2 98160258 98160258 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025190.3 -1 provisional p.G361E 0.001 434 0.2% 246 20.7% - - - - - NULL UBTFL6 643615 genome.wustl.edu 37 2 98253876 98253876 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001714896.2 -1 model p.Y125 1.000 92 0% 55 34.5% - - - - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box UBTFL6 643615 genome.wustl.edu 37 2 98254161 98254161 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001714896.2 -1 model p.E30 0.009 191 0% 91 25.3% - - - - - NULL TMEM131 23505 genome.wustl.edu 37 2 98429009 98429009 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015348.1 -1 validated p.K580Q 1.000 293 0% 169 42.6% - - probably_damaging(0.998) tolerated(0.14) deleterious(0.724) NULL TMEM131 23505 genome.wustl.edu 37 2 98431766 98431766 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015348.1 -1 validated p.S396 1.000 243 0% 89 49.4% - - benign(0) deleterious(0.02) neutral(0.383) NULL TMEM131 23505 genome.wustl.edu 37 2 98451349 98451349 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015348.1 -1 validated p.S282G 1.000 373 0% 199 28.6% - - possibly_damaging(0.649) tolerated(0.2) neutral(0.277) NULL VWA3B 200403 genome.wustl.edu 37 2 98866891 98866891 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144992.4 +1 provisional p.S928 0.996 484 0% 226 31% - - - - - NULL VWA3B 200403 genome.wustl.edu 37 2 98887176 98887176 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144992.4 +1 provisional p.E959* 1.000 149 0% 46 13% - - - - - NULL CNGA3 1261 genome.wustl.edu 37 2 98994214 98994214 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001298.2 +1 reviewed p.G56* 0.139 84 0% 26 42.3% - - - - - NULL TSGA10 80705 genome.wustl.edu 37 2 99695155 99695155 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025244.2 -1 validated p.N283K 0.999 416 0% 209 34.4% - - benign(0) tolerated(1) - NULL TSGA10 80705 genome.wustl.edu 37 2 99695168 99695168 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025244.2 -1 validated p.K279R 1.000 426 0% 207 34.8% - - benign(0.139) tolerated(0.06) neutral(0.335) NULL LIPT1 51601 genome.wustl.edu 37 2 99778906 99778906 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015929.3 +1 reviewed p.I162 1.000 221 0.5% 121 35.5% - - - - - HMMPfam_BPL_LipA_LipB LIPT1 51601 genome.wustl.edu 37 2 99779211 99779211 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015929.3 +1 reviewed p.K264R 0.861 90 0% 57 36.8% - - benign(0.001) tolerated(0.56) neutral(0.006) NULL MRPL30 51263 genome.wustl.edu 37 2 99811340 99811340 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145212.2 +1 reviewed p.K87Q 1.000 164 0% 87 14.9% - - probably_damaging(0.961) deleterious(0.04) deleterious(0.753) superfamily_Ribosomal protein L30p/L7e EIF5B 9669 genome.wustl.edu 37 2 99978050 99978050 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015904.3 +1 reviewed p.A229D 1.000 248 0% 66 19.7% - - possibly_damaging(0.948) deleterious(0.01) deleterious(0.796) NULL EIF5B 9669 genome.wustl.edu 37 2 100011204 100011204 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015904.3 +1 reviewed p.D1038N 1.000 572 0% 283 30.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Initiation factor IF2/eIF5b domain 3 AFF3 3899 genome.wustl.edu 37 2 100623902 100623902 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001025108.1 -1 reviewed p.L90 1.000 150 0.7% 84 44% - - - - - HMMPfam_AF-4 LONRF2 164832 genome.wustl.edu 37 2 100903382 100903382 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198461.3 -1 validated p.E688 1.000 184 0% 131 24.4% - - - - - HMMPfam_LON,HMMSmart_SM00464 NMS 129521 genome.wustl.edu 37 2 101093870 101093870 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001011717.1 +1 provisional p.K85N 0.008 319 0% 179 45.3% - - benign(0.01) tolerated(0.29) neutral(0.030) NULL PDCL3 79031 genome.wustl.edu 37 2 101186103 101186103 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024065.4 +1 validated p.E96D 1.000 230 0% 150 18.7% - - benign(0.1) tolerated(0.1) neutral(0.294) HMMPfam_Phosducin,superfamily_Thiordxn-like_fd NPAS2 4862 genome.wustl.edu 37 2 101564773 101564773 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002518.3 +1 reviewed p.S147F 1.000 444 0% 191 42.4% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMSmart_PAS,HMMPfam_PAS,superfamily_SSF55785 TBC1D8 11138 genome.wustl.edu 37 2 101638770 101638770 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001102426.1 -1 validated p.E897K 0.352 187 0% 124 34.7% - - benign(0.032) deleterious(0.04) neutral(0.350) superfamily_EF-hand TBC1D8 11138 genome.wustl.edu 37 2 101638971 101638971 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001102426.1 -1 validated p.M830V 0.993 69 0% 56 48.2% - - benign(0) tolerated(0.32) neutral(0.024) superfamily_EF-hand TBC1D8 11138 genome.wustl.edu 37 2 101670715 101670715 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001102426.1 -1 validated p.F147 0.969 117 0% 109 23.9% - - - - - HMMPfam_GRAM,HMMSmart_SM00568 CREG2 200407 genome.wustl.edu 37 2 102000090 102000090 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153836.3 -1 validated p.F172L 1.000 277 0% 133 32.3% - - probably_damaging(0.98) deleterious(0.05) deleterious(0.769) superfamily_FMN_binding IL1R1 3554 genome.wustl.edu 37 2 102782726 102782726 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000877.2 +1 reviewed p.E214* 0.002 242 0% 115 17.4% - - - - - HMMSmart_SM00409,superfamily_Immunoglobulin IL1RL2 8808 genome.wustl.edu 37 2 102836423 102836423 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003854.2 +1 reviewed p.P313T 0.015 282 0% 155 41.9% - - probably_damaging(0.975) deleterious(0.02) deleterious(0.800) superfamily_SSF48726 IL1RL1 9173 genome.wustl.edu 37 2 102959741 102959741 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016232.4 +1 reviewed p.G279E 0.000 319 0% 186 36.6% - - benign(0.001) tolerated(0.25) neutral(0.037) HMMSmart_SM00409,superfamily_Immunoglobulin TMEM182 130827 genome.wustl.edu 37 2 103380807 103380807 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144632.3 +1 validated p.K84N 1.000 134 0% 70 31.4% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL POU3F3 5455 genome.wustl.edu 37 2 105473018 105473018 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006236.1 +1 provisional p.L350 1.000 55 0% 32 28.1% - - - - - HMMPfam_Pou,HMMSmart_POU,superfamily_Lambda_like_DNA POU3F3 5455 genome.wustl.edu 37 2 105473057 105473057 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006236.1 +1 provisional p.F363 1.000 56 0% 45 40% - - - - - HMMPfam_Pou,HMMSmart_POU,PatternScan_POU_2,superfamily_Lambda_like_DNA TGFBRAP1 9392 genome.wustl.edu 37 2 105890101 105890101 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142621.1 -1 validated p.K571R 0.198 780 0% 400 37% - - benign(0.01) tolerated(0.56) neutral(0.007) NULL NCK2 8440 genome.wustl.edu 37 2 106471537 106471537 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004720.2 +1 reviewed p.I6M 1.000 160 0% 69 33.3% - - benign(0.22) deleterious(0.01) neutral(0.427) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 C2orf40 84417 genome.wustl.edu 37 2 106690494 106690494 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032411.2 +1 validated p.E94K 1.000 67 0% 57 33.3% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL RGPD3 653489 genome.wustl.edu 37 2 107049441 107049441 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144013.1 -1 validated p.D807Y 1.000 1032 0% 449 21.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL RGPD3 653489 genome.wustl.edu 37 2 107049638 107049638 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144013.1 -1 validated p.R770Q 0.818 608 0.2% 297 31.3% - - possibly_damaging(0.897) tolerated(0.44) neutral(0.366) NULL RGPD3 653489 genome.wustl.edu 37 2 107084711 107084711 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144013.1 -1 validated p.V12I 0.998 72 0% 69 36.2% - - benign(0.069) tolerated(0.18) neutral(0.060) NULL ST6GAL2 84620 genome.wustl.edu 37 2 107460350 107460350 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142351.1 -1 validated p.I28 1.000 75 1.3% 34 14.7% - - - - - NULL RGPD4 285190 genome.wustl.edu 37 2 108473256 108473256 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182588.2 +1 validated p.F369L 1.000 1102 0% 588 22.6% - - benign(0.009) tolerated(0.9) neutral(0.001) NULL SLC5A7 60482 genome.wustl.edu 37 2 108627311 108627311 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021815.2 +1 provisional p.L579 0.001 39 0% 22 31.8% - - - - - NULL SULT1C4 27233 genome.wustl.edu 37 2 109002779 109002779 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006588.2 +1 reviewed p.S249 0.000 172 0% 100 35% - - - - - HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases GCC2 9648 genome.wustl.edu 37 2 109087305 109087305 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181453.3 +1 reviewed p.S507L 1.000 33 0% 18 33.3% - - possibly_damaging(0.868) - - NULL GCC2 9648 genome.wustl.edu 37 2 109087535 109087535 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181453.3 +1 reviewed p.E584* 1.000 48 0% 21 33.3% - - - - - NULL GCC2 9648 genome.wustl.edu 37 2 109088117 109088117 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181453.3 +1 reviewed p.D778Y 0.997 94 0% 45 35.6% - - probably_damaging(1) - - NULL GCC2 9648 genome.wustl.edu 37 2 109088187 109088187 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181453.3 +1 reviewed p.A801V 0.000 144 0% 67 26.9% - - benign(0) - - NULL GCC2 9648 genome.wustl.edu 37 2 109100665 109100665 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181453.3 +1 reviewed p.E1171* 1.000 198 0.5% 68 42.6% - - - - - NULL RANBP2 5903 genome.wustl.edu 37 2 109365442 109365442 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006267.4 +1 reviewed p.A377V 1.000 991 0% 574 23.2% - - unknown(0) - - NULL RANBP2 5903 genome.wustl.edu 37 2 109370332 109370332 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006267.4 +1 reviewed p.E703* 1.000 1386 0.1% 775 36.5% - - - - - NULL RANBP2 5903 genome.wustl.edu 37 2 109371418 109371418 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006267.4 +1 reviewed p.E754K 1.000 775 0% 377 33.2% - - unknown(0) - - NULL RANBP2 5903 genome.wustl.edu 37 2 109380662 109380662 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006267.4 +1 reviewed p.R1223 0.994 110 0% 81 32.1% - - - - - HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 RANBP2 5903 genome.wustl.edu 37 2 109382289 109382289 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006267.4 +1 reviewed p.S1765L 0.674 528 0% 237 24.5% - - benign(0.29) - - NULL RANBP2 5903 genome.wustl.edu 37 2 109384260 109384260 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006267.4 +1 reviewed p.R2422H 0.992 85 0% 44 22.7% - - probably_damaging(1) - - HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 RANBP2 5903 genome.wustl.edu 37 2 109384751 109384751 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006267.4 +1 reviewed p.E2586K 0.000 150 0.7% 108 35.2% - - benign(0) - - NULL RANBP2 5903 genome.wustl.edu 37 2 109399276 109399276 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006267.4 +1 reviewed p.K3109N 1.000 134 0% 74 39.2% - - probably_damaging(0.997) - - HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1,superfamily_CSA_PPIase EDAR 10913 genome.wustl.edu 37 2 109546648 109546648 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022336.3 -1 reviewed p.N34 0.937 105 0% 57 33.3% - - - - - NULL SH3RF3 344558 genome.wustl.edu 37 2 110107342 110107342 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000309415 +1 known p.P810 0.000 54 1.9% 28 28.6% - - - - - superfamily_SH3 SEPT10 151011 genome.wustl.edu 37 2 110323348 110323348 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144710.2 -1 reviewed p.V284G 0.978 629 0% 388 34.3% - - possibly_damaging(0.527) deleterious(0) deleterious(0.623) HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases MALL 7851 genome.wustl.edu 37 2 110849208 110849208 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005434.4 -1 validated p.Y82C 1.000 339 0% 147 17% - - probably_damaging(0.995) tolerated(0.15) deleterious(0.699) HMMPfam_MARVEL ACOXL 55289 genome.wustl.edu 37 2 111551655 111551655 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142807.1 +1 validated p.E83 1.000 168 0% 86 39.5% - - - - - superfamily_Acyl-CoA dehydrogenase NM domain-like BCL2L11 10018 genome.wustl.edu 37 2 111921749 111921749 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138621.3 +1 reviewed p.R180* 1.000 298 0% 180 31.7% - - - - - NULL ANAPC1 64682 genome.wustl.edu 37 2 112536329 112536329 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022662.2 -1 validated p.L1770I 1.000 325 0% 183 21.9% - - benign(0.418) tolerated(0.31) neutral(0.163) NULL ANAPC1 64682 genome.wustl.edu 37 2 112578836 112578836 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000427997 -1 known p.H597Y 1.000 370 0% 242 31.8% - - - - - NULL MERTK 10461 genome.wustl.edu 37 2 112732972 112732972 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006343.2 +1 reviewed p.S356I 0.993 235 0% 176 41.5% - - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like TMEM87B 84910 genome.wustl.edu 37 2 112834807 112834807 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000452614 +1 known p.L121I 1.000 227 0% 81 33.3% - - - - - HMMPfam_Lung_7-TM_R TMEM87B 84910 genome.wustl.edu 37 2 112838942 112838942 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032824.2 +1 validated p.L229V 1.000 418 0% 232 37.9% - - probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMPfam_Lung_7-TM_R ZC3H6 376940 genome.wustl.edu 37 2 113089972 113089972 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198581.2 +1 validated p.P1159 0.002 46 0% 18 22.2% - - - - - superfamily_Multiheme cytochromes RGPD8 727851 genome.wustl.edu 37 2 113161620 113161620 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000302558 -1 known p.S400Y 0.847 955 0% 521 16.1% - - probably_damaging(0.999) tolerated(0.27) deleterious(0.524) NULL RGPD8 727851 genome.wustl.edu 37 2 113181819 113181819 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000302558 -1 known p.K46N 1.000 345 0% 141 24.1% - - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) superfamily_TPR-like POLR1B 84172 genome.wustl.edu 37 2 113332676 113332676 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019014.4 +1 validated p.I926 0.933 241 0% 163 33.7% - - - - - HMMPfam_RNA_pol_Rpb2_6,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase POLR1B 84172 genome.wustl.edu 37 2 113333092 113333092 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019014.4 +1 validated p.S1065L 0.991 342 0.3% 178 29.8% - - probably_damaging(0.955) tolerated(0.64) neutral(0.402) HMMPfam_RNA_pol_Rpb2_7,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase PSD4 23550 genome.wustl.edu 37 2 113958972 113958972 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012455.2 +1 validated p.R1051W 0.998 76 0% 59 37.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ENSG00000251207 0 genome.wustl.edu 37 2 114416099 114416099 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000514936 -1 novel NULL 1.000 380 0% 239 45.2% - - - - - - DPP10 57628 genome.wustl.edu 37 2 116101408 116101408 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020868.3 +1 validated p.S64L 1.000 276 0.7% 130 38.5% - - benign(0.335) tolerated(0.21) neutral(0.149) NULL DPP10 57628 genome.wustl.edu 37 2 116525907 116525907 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020868.3 +1 validated p.K383T 0.997 533 0% 261 31.4% - - benign(0.078) tolerated(0.1) neutral(0.292) HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain DPP10 57628 genome.wustl.edu 37 2 116539961 116539961 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020868.3 +1 validated p.T506M 0.508 358 0% 116 35.3% - - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain DDX18 8886 genome.wustl.edu 37 2 118579617 118579617 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006773.3 +1 reviewed p.R311C 1.000 294 0% 209 42.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 PCDP1 200373 genome.wustl.edu 37 2 120388454 120388454 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001029996.3 +1 validated p.D365Y 0.001 378 0% 212 33.5% - - probably_damaging(0.955) deleterious(0.04) deleterious(0.748) NULL EPB41L5 57669 genome.wustl.edu 37 2 120889270 120889270 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020909.3 +1 validated p.I526 0.001 158 0% 62 37.1% - - - - - NULL CLASP1 23332 genome.wustl.edu 37 2 122120867 122120867 + Nonsense_Mutation SNP G G A rs145127425 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015282.2 -1 validated p.R1363* 1.000 313 0% 174 25.9% - - - - - HMMPfam_HEAT,superfamily_ARM repeat CLASP1 23332 genome.wustl.edu 37 2 122125212 122125212 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015282.2 -1 validated p.A1280T 1.000 326 0.3% 178 29.2% - - probably_damaging(1) tolerated(0.33) deleterious(0.524) superfamily_ARM repeat CLASP1 23332 genome.wustl.edu 37 2 122165076 122165076 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000442289 -1 known p.E227* 1.000 229 0% 173 34.1% - - probably_damaging(0.999) tolerated(0.18) deleterious(0.546) NULL CNTNAP5 129684 genome.wustl.edu 37 2 124979315 124979315 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_130773.2 +1 reviewed p.S39Y 0.967 400 0% 218 44% - - possibly_damaging(0.893) tolerated(0.25) neutral(0.389) HMMSmart_FA58C,superfamily_Gal_bind_like CNTNAP5 129684 genome.wustl.edu 37 2 125504945 125504945 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_130773.2 +1 reviewed p.D738 0.937 216 0.5% 106 34% - - - - - superfamily_ConA_like_lec_gl CNTNAP5 129684 genome.wustl.edu 37 2 125660669 125660669 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_130773.2 +1 reviewed p.S1215Y 1.000 138 0% 102 36.3% - - benign(0.054) tolerated(0.16) neutral(0.063) NULL CNTNAP5 129684 genome.wustl.edu 37 2 125669091 125669091 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_130773.2 +1 reviewed p.R1234* 0.924 321 0% 189 42.9% - - - - - NULL CNTNAP5 129684 genome.wustl.edu 37 2 125671807 125671807 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_130773.2 +1 reviewed p.R1288I 1.000 314 0% 181 37% - - possibly_damaging(0.893) tolerated(0.05) deleterious(0.698) NULL CYP27C1 339761 genome.wustl.edu 37 2 127956957 127956957 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001665.3 -1 reviewed p.D183N 0.999 187 0% 154 42.9% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_p450,superfamily_Cytochrome P450 ERCC3 2071 genome.wustl.edu 37 2 128038196 128038196 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000122.1 -1 reviewed p.R452* 1.000 100 0% 70 34.3% - - - - - HMMPfam_ResIII,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases PROC 5624 genome.wustl.edu 37 2 128180683 128180683 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000453608 +1 known p.S164L 0.999 3 0.000 9 0.444 - - unknown(0) deleterious(0) - NULL PROC 5624 genome.wustl.edu 37 2 128186455 128186455 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000312.3 +1 reviewed p.R440H 0.996 69 0% 36 36.1% - - benign(0.029) deleterious(0.04) neutral(0.350) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys IWS1 55677 genome.wustl.edu 37 2 128247423 128247423 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017969.2 -1 validated p.R715Q 1.000 969 0% 526 37.6% - - possibly_damaging(0.723) tolerated(0.11) deleterious(0.534) HMMPfam_IWS1_C MYO7B 4648 genome.wustl.edu 37 2 128331574 128331574 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080527.1 +1 provisional p.S224 0.035 139 0% 96 49% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO7B 4648 genome.wustl.edu 37 2 128338331 128338331 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080527.1 +1 provisional p.F338 0.609 114 0% 90 36.7% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO7B 4648 genome.wustl.edu 37 2 128339543 128339543 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080527.1 +1 provisional p.L386 1.000 178 0% 109 43.1% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases WDR33 55339 genome.wustl.edu 37 2 128482480 128482480 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018383.3 -1 reviewed p.L356V 1.000 226 0% 97 40.2% - - unknown(0) tolerated(0.06) - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 SAP130 79595 genome.wustl.edu 37 2 128750852 128750852 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024545.3 -1 validated p.F488L 0.946 360 0% 166 39.2% - - probably_damaging(0.987) tolerated(0.14) deleterious(0.686) NULL POTEF 728378 genome.wustl.edu 37 2 130872453 130872453 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099771.2 -1 validated e3+1 0.995 869 0.2% 543 21.4% - - - - - - POTEF 728378 genome.wustl.edu 37 2 130872460 130872460 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099771.2 -1 validated p.K268N 0.996 909 0% 568 23.4% - - benign(0.184) deleterious(0.01) neutral(0.423) HMMPfam_Ank,superfamily_ANK TUBA3E 112714 genome.wustl.edu 37 2 130949415 130949415 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207312.2 -1 validated p.E448K 1.000 520 0% 279 30.1% - - benign(0.01) deleterious(0) neutral(0.445) NULL PTPN18 26469 genome.wustl.edu 37 2 131128488 131128488 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014369.3 +1 reviewed p.F292S 0.996 170 0% 112 48.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_PTPc,superfamily_SSF52799 GPR148 344561 genome.wustl.edu 37 2 131487759 131487759 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207364.2 +1 validated p.T345 0.022 48 0% 26 26.9% - - - - - NULL FAM123C 205147 genome.wustl.edu 37 2 131520782 131520782 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105193.1 +1 validated p.S379 0.000 74 0% 38 55.3% - - - - - HMMPfam_WTX ARHGEF4 50649 genome.wustl.edu 37 2 131704211 131704211 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000409359 +1 known p.E1000K 0.999 155 0% 92 35.9% - - benign(0.099) deleterious(0) neutral(0.452) NULL FAM168B 130074 genome.wustl.edu 37 2 131812883 131812883 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009993.2 -1 validated p.M146T 1.000 173 0% 136 33.8% - - benign(0.015) deleterious(0) neutral(0.445) NULL PLEKHB2 55041 genome.wustl.edu 37 2 131904260 131904260 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001100623.1 +1 validated p.R195* 0.630 170 0.6% 121 14.9% - - - - - NULL POTEE 445582 genome.wustl.edu 37 2 131976387 131976387 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001083538.1 +1 validated p.E138* 0.001 497 0% 308 13.6% - - - - - superfamily_Ankyrin repeat POTEE 445582 genome.wustl.edu 37 2 131984493 131984493 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001083538.1 +1 validated p.R303I 0.001 822 0% 389 23.1% - - possibly_damaging(0.681) deleterious(0) deleterious(0.688) HMMPfam_Ank,superfamily_Ankyrin repeat POTEE 445582 genome.wustl.edu 37 2 132021086 132021086 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001083538.1 +1 validated p.K686N 0.221 259 0% 119 33.6% - - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL TUBA3D 113457 genome.wustl.edu 37 2 132238026 132238026 + Missense_Mutation SNP G G C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080386.2 +1 validated p.E254Q 1.000 381 0.3% 254 30.3% - - probably_damaging(0.974) deleterious(0) deleterious(0.861) superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C CCDC74A 90557 genome.wustl.edu 37 2 132287065 132287065 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000434330 +1 known p.G27 0.000 104 0% 63 44.4% - - - - - NULL GPR39 2863 genome.wustl.edu 37 2 133402721 133402721 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001508.2 +1 validated p.R302W 1.000 118 0% 89 37.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR39 2863 genome.wustl.edu 37 2 133402871 133402871 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001508.2 +1 validated p.R352W 1.000 90 0% 87 31% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like LYPD1 116372 genome.wustl.edu 37 2 133403714 133403714 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144586.5 -1 validated p.R110S 1.000 157 0% 87 40.2% - - probably_damaging(0.966) deleterious(0) deleterious(0.853) NULL YSK4 80122 genome.wustl.edu 37 2 135743904 135743904 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025052.3 -1 validated p.Q846H 0.944 355 0% 260 13.8% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL YSK4 80122 genome.wustl.edu 37 2 135744298 135744298 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025052.3 -1 validated p.R715I 0.146 172 0% 103 39.8% - - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL YSK4 80122 genome.wustl.edu 37 2 135744687 135744687 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025052.3 -1 validated p.W585* 0.000 244 0% 133 35.3% - - - - - NULL YSK4 80122 genome.wustl.edu 37 2 135745215 135745215 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025052.3 -1 validated p.E409 0.000 328 0% 157 39.5% - - - - - NULL YSK4 80122 genome.wustl.edu 37 2 135763096 135763096 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025052.3 -1 validated p.F48 0.993 207 0% 117 35.9% - - - - - NULL RAB3GAP1 22930 genome.wustl.edu 37 2 135911423 135911423 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012233.2 +1 reviewed p.D756N 1.000 265 0.4% 131 36.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZRANB3 84083 genome.wustl.edu 37 2 136111183 136111183 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032143.2 -1 provisional p.T66A 1.000 149 0% 81 14.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases LCT 3938 genome.wustl.edu 37 2 136566726 136566726 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002299.2 -1 reviewed p.N1064T 1.000 83 0% 51 19.6% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat LCT 3938 genome.wustl.edu 37 2 136575259 136575259 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002299.2 -1 reviewed p.F453 1.000 44 0% 41 19.5% - - - - - HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat THSD7B 80731 genome.wustl.edu 37 2 137814631 137814631 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080427.1 +1 provisional p.P230T 0.012 217 0% 126 33.3% - - benign(0.143) tolerated(0.6) neutral(0.017) NULL LOC440917 440917 genome.wustl.edu 37 2 139046280 139046280 + RNA SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_041289.2 -1 model NULL 1.000 343 0% 195 36.4% - - - - - - NXPH2 11249 genome.wustl.edu 37 2 139428905 139428905 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007226.2 -1 validated p.L128F 1.000 247 0% 152 38.2% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Neurexophilin LRP1B 53353 genome.wustl.edu 37 2 140992404 140992404 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018557.2 -1 validated p.A4537V 1.000 475 0.2% 171 32.7% - - possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL LRP1B 53353 genome.wustl.edu 37 2 141128794 141128794 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018557.2 -1 validated p.S3610Y 1.000 102 0% 44 36.4% - - probably_damaging(0.961) tolerated(0.05) deleterious(0.750) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich LRP1B 53353 genome.wustl.edu 37 2 141253234 141253234 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018557.2 -1 validated p.C2978 1.000 471 0% 213 16.9% - - - - - HMMSmart_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141259444 141259444 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018557.2 -1 validated e55-1 1.000 155 0% 92 37% - - - - - - LRP1B 53353 genome.wustl.edu 37 2 141571368 141571368 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018557.2 -1 validated p.S1739 0.019 270 0% 171 30.4% - - - - - HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141607771 141607771 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018557.2 -1 validated p.F1613 0.570 472 0% 271 29.2% - - - - - HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141609354 141609354 + Splice_Site SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018557.2 -1 validated e28-2 1.000 144 0% 89 33.7% - - - - - - LRP1B 53353 genome.wustl.edu 37 2 141660686 141660686 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018557.2 -1 validated p.V1190G 1.000 229 0% 148 39.2% - - possibly_damaging(0.712) tolerated(0.51) neutral(0.267) HMMPfam_EGF,HMMSmart_EGF,superfamily_SSF57196 LRP1B 53353 genome.wustl.edu 37 2 141751606 141751606 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018557.2 -1 validated p.D868N 0.999 317 0% 141 41.8% - - possibly_damaging(0.88) tolerated(0.53) neutral(0.351) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich ZEB2 9839 genome.wustl.edu 37 2 145157079 145157079 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014795.3 -1 reviewed p.L559 0.973 463 0% 235 28.1% - - - - - NULL ZEB2 9839 genome.wustl.edu 37 2 145187366 145187366 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014795.3 -1 reviewed p.E101K 0.998 118 0% 111 38.7% - - benign(0.032) tolerated(0.15) neutral(0.242) NULL ORC4 5000 genome.wustl.edu 37 2 148733507 148733507 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002552.2 -1 reviewed p.K7N 0.901 259 0% 119 32.8% - - probably_damaging(0.978) deleterious(0.01) deleterious(0.826) NULL MBD5 55777 genome.wustl.edu 37 2 149226593 149226593 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018328.4 +1 reviewed p.L361F 1.000 245 0% 125 27.2% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL MBD5 55777 genome.wustl.edu 37 2 149247560 149247560 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018328.4 +1 reviewed p.G1220 1.000 162 0% 87 39.1% - - - - - NULL EPC2 26122 genome.wustl.edu 37 2 149522569 149522569 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015630.3 +1 validated p.R332C 1.000 187 0% 118 42.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL EPC2 26122 genome.wustl.edu 37 2 149522621 149522621 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015630.3 +1 validated p.S349F 1.000 193 0.5% 97 37.1% - - benign(0.046) deleterious(0.03) neutral(0.367) NULL KIF5C 3800 genome.wustl.edu 37 2 149679726 149679726 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000435030 +1 known p.F49 0.927 349 0% 197 32.5% - - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF5C 3800 genome.wustl.edu 37 2 149793866 149793866 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000435030 +1 known p.I120 1.000 132 0% 81 44.4% - - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF5C 3800 genome.wustl.edu 37 2 149806383 149806383 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000435030 +1 known p.L249I 1.000 498 0% 220 35% - - possibly_damaging(0.52) deleterious(0) deleterious(0.619) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases LYPD6B 130576 genome.wustl.edu 37 2 150017338 150017338 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_177964.3 +1 provisional p.F22L 0.000 309 0.3% 154 42.9% - - unknown(0) - - NULL LYPD6 130574 genome.wustl.edu 37 2 150327246 150327246 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194317.2 +1 provisional p.R133Q 1.000 528 0% 298 40.9% - - probably_damaging(0.985) tolerated(0.15) deleterious(0.673) NULL RBM43 375287 genome.wustl.edu 37 2 152107691 152107691 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198557.2 -1 validated p.S268Y 0.001 275 0% 142 42.3% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL RIF1 55183 genome.wustl.edu 37 2 152285410 152285410 + Nonsense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018151.4 +1 reviewed p.L300* 1.000 267 0% 144 34.7% - - - - - superfamily_ARM repeat NEB 4703 genome.wustl.edu 37 2 152359308 152359308 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004543.4 -1 reviewed p.S6275L 1.000 266 0% 110 35.5% - - probably_damaging(0.959) - - HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152361993 152361993 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004543.4 -1 reviewed p.S6213L 1.000 370 0% 270 24.1% - - probably_damaging(0.995) - - HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152404880 152404880 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004543.4 -1 reviewed p.L4999P 1.000 350 0% 152 36.8% - - probably_damaging(0.974) deleterious(0.01) deleterious(0.822) HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152450707 152450707 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000427231 -1 known p.K68N 1.000 1097 0.1% 679 13.1% - - unknown(0) - - HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152473983 152473983 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004543.4 -1 reviewed e70-1 1.000 94 0% 67 40.3% - - - - - - NEB 4703 genome.wustl.edu 37 2 152484118 152484118 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004543.4 -1 reviewed p.K3111N 0.997 471 0% 324 34.3% - - probably_damaging(0.978) deleterious(0.01) deleterious(0.826) HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152500984 152500984 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004543.4 -1 reviewed p.E2548* 1.000 468 0% 232 40.1% - - - - - HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152502667 152502667 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004543.4 -1 reviewed p.A2505T 1.000 484 0% 215 15.3% - - benign(0.004) tolerated(0.6) neutral(0.004) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152512853 152512853 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004543.4 -1 reviewed p.K2103N 1.000 678 0% 392 33.4% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152548867 152548867 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004543.4 -1 reviewed p.K636E 1.000 687 0% 371 35.3% - - possibly_damaging(0.604) deleterious(0.02) deleterious(0.593) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152550850 152550850 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004543.4 -1 reviewed p.K628R 1.000 582 0% 363 39.9% - - probably_damaging(0.994) tolerated(0.3) deleterious(0.481) HMMPfam_Nebulin,HMMSmart_SM00227 CACNB4 785 genome.wustl.edu 37 2 152725742 152725742 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000726.3 -1 reviewed p.D236G 1.000 407 0% 172 31.4% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ca_channel_B,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases FMNL2 114793 genome.wustl.edu 37 2 153471382 153471382 + Missense_Mutation SNP G G C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052905.3 +1 reviewed p.E360D 1.000 157 0% 87 21.8% - - possibly_damaging(0.491) deleterious(0.02) deleterious(0.546) HMMPfam_Drf_FH3 FMNL2 114793 genome.wustl.edu 37 2 153481980 153481980 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000421344 +1 known p.R160Q 0.218 391 0% 218 38.5% - - - - - HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) GALNT13 114805 genome.wustl.edu 37 2 155115637 155115637 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052917.2 +1 validated p.E321* 1.000 468 0% 198 36.9% - - - - - superfamily_Nucleotide-diphospho-sugar transferases GALNT13 114805 genome.wustl.edu 37 2 155252589 155252589 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052917.2 +1 validated p.E415* 1.000 308 0% 108 12% - - - - - superfamily_Nucleotide-diphospho-sugar transferases NR4A2 4929 genome.wustl.edu 37 2 157184401 157184401 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006186.3 -1 reviewed p.D374N 1.000 92 0% 66 34.8% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_Nuclear receptor ligand-binding domain GPD2 2820 genome.wustl.edu 37 2 157435477 157435477 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000408.4 +1 reviewed p.R615H 0.993 376 0% 201 38.8% - - benign(0) deleterious(0.03) neutral(0.364) superfamily_FAD/NAD(P)-binding domain GALNT5 11227 genome.wustl.edu 37 2 158153005 158153005 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014568.1 +1 provisional p.I659 0.766 418 0% 213 35.2% - - - - - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases ACVR1C 130399 genome.wustl.edu 37 2 158397649 158397649 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145259.2 -1 validated p.S393Y 1.000 400 0% 141 43.3% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CCDC148 130940 genome.wustl.edu 37 2 159033064 159033064 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138803.3 -1 validated p.L533P 1.000 395 0% 207 34.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CCDC148 130940 genome.wustl.edu 37 2 159166098 159166098 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138803.3 -1 validated p.N319 0.000 411 0% 237 36.7% - - - - - NULL CCDC148 130940 genome.wustl.edu 37 2 159197138 159197138 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138803.3 -1 validated p.N102K 0.967 190 0% 96 25% - - benign(0) tolerated(0.26) neutral(0.034) NULL PKP4 8502 genome.wustl.edu 37 2 159514693 159514693 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003628.3 +1 reviewed p.R654* 1.000 534 0% 298 24.2% - - - - - HMMSmart_SM00185,superfamily_ARM repeat PKP4 8502 genome.wustl.edu 37 2 159530191 159530191 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003628.3 +1 reviewed p.S976* 1.000 355 0% 181 32.6% - - - - - HMMSmart_SM00185,superfamily_ARM repeat TANC1 85461 genome.wustl.edu 37 2 160005675 160005675 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033394.2 +1 validated p.P129 1.000 257 0% 133 35.3% - - - - - NULL TANC1 85461 genome.wustl.edu 37 2 160031569 160031569 + Missense_Mutation SNP G G A rs190179338 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033394.2 +1 validated p.A537T 1.000 129 0% 91 35.2% - - probably_damaging(0.973) deleterious(0) deleterious(0.859) NULL WDSUB1 151525 genome.wustl.edu 37 2 160104954 160104954 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128212.1 -1 validated p.S401Y 1.000 265 0% 162 37% - - benign(0.001) tolerated(0.24) neutral(0.037) superfamily_RING/U-box MARCH7 64844 genome.wustl.edu 37 2 160623840 160623840 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022826.2 +1 validated p.F701C 1.000 436 0% 213 35.2% - - benign(0.039) - - NULL PLA2R1 22925 genome.wustl.edu 37 2 160798366 160798366 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007366.3 -1 validated p.Y1439H 0.857 189 0% 102 46.1% - - possibly_damaging(0.902) deleterious(0) deleterious(0.801) NULL PLA2R1 22925 genome.wustl.edu 37 2 160840477 160840477 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007366.3 -1 validated p.E715D 1.000 89 0% 40 47.5% - - probably_damaging(0.999) tolerated(0.49) deleterious(0.501) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like PLA2R1 22925 genome.wustl.edu 37 2 160840542 160840542 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007366.3 -1 validated p.E694* 1.000 116 0% 65 30.8% - - - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like TANK 10010 genome.wustl.edu 37 2 162036166 162036166 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000402568 +1 known p.R56Q 0.926 270 0% 127 40.2% - - benign(0.004) tolerated(0.6) neutral(0.004) NULL PSMD14 10213 genome.wustl.edu 37 2 162251667 162251667 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005805.4 +1 validated p.E242* 1.000 303 0% 107 39.3% - - - - - NULL TBR1 10716 genome.wustl.edu 37 2 162273317 162273317 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006593.2 +1 reviewed p.P132 0.959 35 0% 19 42.1% - - - - - NULL TBR1 10716 genome.wustl.edu 37 2 162275552 162275552 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006593.2 +1 reviewed p.Q373H 1.000 59 0% 46 47.8% - - probably_damaging(0.969) deleterious(0) deleterious(0.856) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd DPP4 1803 genome.wustl.edu 37 2 162849816 162849816 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001935.3 -1 reviewed p.K760Q 0.996 958 0% 432 33.1% - - benign(0.026) tolerated(0.16) neutral(0.060) HMMPfam_Peptidase_S9,superfamily_alpha/beta-Hydrolases DPP4 1803 genome.wustl.edu 37 2 162881402 162881402 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001935.3 -1 reviewed p.S312Y 0.421 212 0% 120 31.7% - - benign(0.104) tolerated(0.22) neutral(0.050) HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain GCG 2641 genome.wustl.edu 37 2 163005681 163005681 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002054.3 -1 reviewed p.S3I 1.000 234 0% 133 31.6% - - benign(0.223) deleterious(0.02) neutral(0.405) NULL FAP 2191 genome.wustl.edu 37 2 163039968 163039968 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004460.2 -1 reviewed p.E609* 1.000 225 0% 84 47.6% - - - - - HMMPfam_Peptidase_S9,PatternScan_PRO_ENDOPEP_SER,superfamily_SSF53474 KCNH7 90134 genome.wustl.edu 37 2 163230141 163230141 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033272.2 -1 reviewed p.T1055P 0.999 446 0.2% 236 32.2% - - possibly_damaging(0.608) tolerated(0.05) deleterious(0.556) NULL KCNH7 90134 genome.wustl.edu 37 2 163236516 163236516 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033272.2 -1 reviewed p.R993Q 0.029 341 0% 193 33.2% - - possibly_damaging(0.792) tolerated(0.3) neutral(0.326) NULL KCNH7 90134 genome.wustl.edu 37 2 163241446 163241446 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033272.2 -1 reviewed p.N905S 0.180 339 0% 207 38.6% - - benign(0) tolerated(0.88) - NULL KCNH7 90134 genome.wustl.edu 37 2 163302727 163302727 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033272.2 -1 reviewed p.N452T 1.000 229 0% 124 11.3% - - benign(0.011) tolerated(0.63) neutral(0.004) superfamily_Voltage-gated potassium channels FIGN 55137 genome.wustl.edu 37 2 164467623 164467623 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018086.2 -1 validated p.S240F 1.000 207 0% 125 41.6% - - probably_damaging(0.954) deleterious(0) deleterious(0.842) NULL GRB14 2888 genome.wustl.edu 37 2 165404231 165404231 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004490.2 -1 reviewed p.K140N 1.000 135 0% 58 43.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RA,HMMSmart_RA SCN3A 6328 genome.wustl.edu 37 2 165947398 165947398 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006922.3 -1 reviewed p.I1755 1.000 684 0% 304 37.2% - - - - - HMMPfam_Ion_trans,superfamily_SSF81324 SCN3A 6328 genome.wustl.edu 37 2 165986652 165986652 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006922.3 -1 reviewed p.S907N 1.000 548 0% 278 16.2% - - benign(0.306) tolerated(1) neutral(0.096) HMMPfam_Ion_trans,superfamily_SSF81324 SCN3A 6328 genome.wustl.edu 37 2 165994569 165994569 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006922.3 -1 reviewed p.F737L 0.989 311 0% 158 34.2% - - benign(0.106) tolerated(0.07) neutral(0.327) superfamily_SSF81324 SCN2A 6326 genome.wustl.edu 37 2 166170459 166170459 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040142.1 +1 reviewed p.V408 0.998 261 0% 125 34.4% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN2A 6326 genome.wustl.edu 37 2 166211138 166211138 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040142.1 +1 reviewed p.T1119N 1.000 187 0% 97 29.9% - - probably_damaging(0.995) tolerated(0.41) deleterious(0.473) HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels SCN2A 6326 genome.wustl.edu 37 2 166229829 166229829 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040142.1 +1 reviewed p.R1315I 1.000 509 0% 212 34% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CSRNP3 80034 genome.wustl.edu 37 2 166535298 166535298 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024969.3 +1 validated p.R265W 1.000 300 0% 128 41.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CSRNP3 80034 genome.wustl.edu 37 2 166535445 166535445 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024969.3 +1 validated p.A314T 0.824 147 0% 83 10.8% - - possibly_damaging(0.477) deleterious(0.04) deleterious(0.506) NULL CSRNP3 80034 genome.wustl.edu 37 2 166536097 166536097 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024969.3 +1 validated p.F531C 1.000 161 0% 104 32.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GALNT3 2591 genome.wustl.edu 37 2 166618396 166618396 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000409882 -1 known p.G3 0.002 273 0% 146 34.2% - - - - - NULL GALNT3 2591 genome.wustl.edu 37 2 166627114 166627114 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004482.3 -1 reviewed p.V33F 0.997 85 0% 58 37.9% - - benign(0) tolerated(1) - NULL TTC21B 79809 genome.wustl.edu 37 2 166747104 166747104 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024753.3 -1 validated p.R1050W 0.999 314 0% 124 34.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00028,superfamily_TPR-like SCN1A 6323 genome.wustl.edu 37 2 166892676 166892676 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006920.4 -1 reviewed p.S1093* 1.000 581 0% 343 37% - - - - - HMMPfam_Na_trans_assoc,superfamily_SSF81324 SCN1A 6323 genome.wustl.edu 37 2 166900452 166900452 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006920.4 -1 reviewed p.F590 1.000 298 0% 151 34.4% - - - - - NULL SCN1A 6323 genome.wustl.edu 37 2 166900489 166900489 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006920.4 -1 reviewed p.R578I 1.000 206 0% 100 31% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SCN9A 6335 genome.wustl.edu 37 2 167056119 167056119 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002977.3 -1 reviewed p.D1666G 1.000 708 0% 427 39.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN7A 6332 genome.wustl.edu 37 2 167298010 167298010 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002976.2 -1 validated p.L685F 0.999 262 0% 146 27.4% - - possibly_damaging(0.678) deleterious(0) deleterious(0.686) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN7A 6332 genome.wustl.edu 37 2 167298130 167298130 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002976.2 -1 validated p.G645S 1.000 298 0% 160 32.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels XIRP2 129446 genome.wustl.edu 37 2 167992565 167992565 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152381.4 +1 validated p.I185 0.067 196 0% 100 30% - - - - - NULL XIRP2 129446 genome.wustl.edu 37 2 168100464 168100464 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152381.4 +1 validated p.K854N 1.000 110 0% 43 23.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL XIRP2 129446 genome.wustl.edu 37 2 168102109 168102109 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152381.4 +1 validated p.S1403A 0.000 132 0% 74 35.1% - - probably_damaging(0.977) tolerated(0.35) neutral(0.440) NULL XIRP2 129446 genome.wustl.edu 37 2 168107654 168107654 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152381.4 +1 validated p.S3251F 0.363 80 0% 33 39.4% - - benign(0.013) deleterious(0) neutral(0.445) NULL CERS6 253782 genome.wustl.edu 37 2 169626036 169626036 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_203463.1 +1 validated p.R340Q 1.000 135 0% 71 43.7% - - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) NULL ABCB11 8647 genome.wustl.edu 37 2 169801231 169801231 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003742.2 -1 reviewed p.R832C 0.998 280 0% 140 34.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain LRP2 4036 genome.wustl.edu 37 2 170014001 170014001 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004525.2 -1 reviewed p.E3967* 0.003 403 0% 248 25.8% - - - - - superfamily_LDL_rcpt_classA_cys-rich LRP2 4036 genome.wustl.edu 37 2 170038701 170038701 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004525.2 -1 reviewed p.G3325E 1.000 326 0% 176 14.2% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170042229 170042229 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004525.2 -1 reviewed p.R3210K 1.000 405 0% 207 39.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170062935 170062935 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004525.2 -1 reviewed p.R2432I 1.000 244 0% 160 38.1% - - benign(0.106) deleterious(0) neutral(0.453) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170090091 170090091 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004525.2 -1 reviewed p.R1643Q 0.983 91 0% 51 13.7% - - benign(0.151) tolerated(0.37) neutral(0.033) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170113652 170113652 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004525.2 -1 reviewed p.G874D 1.000 181 0% 109 36.7% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 FASTKD1 79675 genome.wustl.edu 37 2 170403007 170403007 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024622.3 -1 validated p.A474 0.713 224 0% 130 37.7% - - - - - NULL PHOSPHO2 493911 genome.wustl.edu 37 2 170557786 170557786 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008489.2 +1 provisional p.S102L 1.000 157 0% 88 36.4% - - benign(0.059) deleterious(0.03) neutral(0.368) HMMPfam_Put_Phosphatase,superfamily_HAD-like PHOSPHO2 493911 genome.wustl.edu 37 2 170558163 170558163 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008489.2 +1 provisional p.G228S 1.000 64 0% 32 28.1% - - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_Put_Phosphatase KLHL23 151230 genome.wustl.edu 37 2 170592208 170592208 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144711.4 +1 validated p.I228M 0.995 92 0% 40 30% - - benign(0.002) tolerated(0.16) neutral(0.059) HMMPfam_BACK SSB 6741 genome.wustl.edu 37 2 170662183 170662183 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003142.3 +1 provisional p.R60H 0.994 268 0% 140 42.1% - - possibly_damaging(0.641) tolerated(0.06) deleterious(0.547) "HMMPfam_La,HMMSmart_SM00715,superfamily_""Winged helix"" DNA-binding domain" MYO3B 140469 genome.wustl.edu 37 2 171243708 171243708 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138995.3 +1 validated p.S489 0.025 197 0.5% 108 38% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO3B 140469 genome.wustl.edu 37 2 171248960 171248960 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138995.3 +1 validated p.F582 1.000 212 0% 76 42.1% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO3B 140469 genome.wustl.edu 37 2 171258164 171258164 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138995.3 +1 validated p.R698C 1.000 105 0% 49 26.5% - - possibly_damaging(0.487) tolerated(0.09) neutral(0.459) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases GAD1 2571 genome.wustl.edu 37 2 171713632 171713632 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000817.2 +1 reviewed p.G506 0.065 251 0% 118 39% - - - - - HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases TLK1 9874 genome.wustl.edu 37 2 171853237 171853237 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012290.4 -1 validated p.L684I 1.000 402 0% 195 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TLK1 9874 genome.wustl.edu 37 2 171863327 171863327 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012290.4 -1 validated p.F527L 1.000 379 0% 213 39.4% - - probably_damaging(0.965) tolerated(0.09) deleterious(0.704) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DCAF17 80067 genome.wustl.edu 37 2 172305217 172305217 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025000.3 +1 reviewed p.D116E 1.000 154 0% 72 26.4% - - unknown(0) - - NULL DCAF17 80067 genome.wustl.edu 37 2 172330394 172330394 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025000.3 +1 reviewed p.E334* 1.000 336 0% 155 34.8% - - - - - NULL DCAF17 80067 genome.wustl.edu 37 2 172333428 172333428 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025000.3 +1 reviewed p.F384V 1.000 364 0% 155 12.3% - - probably_damaging(0.998) tolerated(0.05) deleterious(0.820) NULL CYBRD1 79901 genome.wustl.edu 37 2 172398200 172398200 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024843.3 +1 validated p.S100Y 0.194 344 0% 252 32.9% - - possibly_damaging(0.935) deleterious(0) deleterious(0.825) HMMPfam_Cytochrom_B561,HMMSmart_B561 METAP1D 254042 genome.wustl.edu 37 2 172935775 172935775 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199227.1 +1 validated p.F227L 1.000 298 0% 148 39.2% - - benign(0.009) tolerated(0.24) neutral(0.038) HMMPfam_Peptidase_M24,superfamily_Peptidase_M24_cat_core ITGA6 3655 genome.wustl.edu 37 2 173341184 173341184 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079818.1 +1 reviewed p.R444Q 0.943 668 0% 398 35.9% - - benign(0.021) tolerated(0.47) neutral(0.012) HMMPfam_FG-GAP,HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain RAPGEF4 11069 genome.wustl.edu 37 2 173853466 173853466 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007023.3 +1 validated p.A425S 1.000 137 0% 90 27.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like RAPGEF4 11069 genome.wustl.edu 37 2 173883523 173883523 + Silent SNP C C A rs61741759 byFrequency;by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007023.3 +1 validated p.S716 0.058 277 0.4% 150 40.7% - - - - - HMMPfam_RA,superfamily_Ras GEF ZAK 51776 genome.wustl.edu 37 2 174081897 174081897 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016653.2 +1 reviewed p.S302 1.000 138 0% 60 31.7% - - - - - NULL CDCA7 83879 genome.wustl.edu 37 2 174231033 174231033 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031942.4 +1 reviewed p.R353H 1.000 174 0% 110 39.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-4CXXC_R1 SP3 6670 genome.wustl.edu 37 2 174820642 174820642 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003111.4 -1 reviewed p.E200* 1.000 414 0% 226 37.2% - - - - - NULL CIR1 9541 genome.wustl.edu 37 2 175243714 175243714 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004882.3 -1 validated p.R141* 1.000 273 0% 169 27.2% - - - - - NULL SCRN3 79634 genome.wustl.edu 37 2 175287641 175287641 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024583.3 +1 validated p.E261 0.998 230 0% 124 12.9% - - - - - NULL GPR155 151556 genome.wustl.edu 37 2 175338036 175338036 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001033045.2 -1 validated p.A173T 1.000 81 0% 28 28.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Mem_trans GPR155 151556 genome.wustl.edu 37 2 175346367 175346367 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001033045.2 -1 validated p.I106 0.986 254 0% 117 25.6% - - - - - HMMPfam_Mem_trans WIPF1 7456 genome.wustl.edu 37 2 175436691 175436691 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077269.1 -1 reviewed p.A281V 0.000 164 0% 82 39% - - benign(0) tolerated(0.23) neutral(0.042) NULL CHRNA1 1134 genome.wustl.edu 37 2 175613538 175613538 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039523.2 -1 reviewed p.D363N 1.000 242 0% 144 31.2% - - benign(0.005) tolerated(0.44) neutral(0.013) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore CHN1 1123 genome.wustl.edu 37 2 175809619 175809619 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001822.4 -1 reviewed p.C37 0.998 391 0% 158 44.9% - - - - - NULL HOXD12 3238 genome.wustl.edu 37 2 176965333 176965333 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021193.3 +1 reviewed p.E220K 1.000 70 0% 39 23.1% - - unknown(0) tolerated(0.39) - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like HOXD9 3235 genome.wustl.edu 37 2 176988709 176988709 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014213.3 +1 reviewed p.R289C 1.000 370 0.3% 193 33.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like HOXD8 3234 genome.wustl.edu 37 2 176995630 176995630 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019558.2 +1 reviewed p.S179N 1.000 28 0% 16 56.2% - - benign(0.008) tolerated(0.6) neutral(0.004) superfamily_Homeodomain_like HOXD8 3234 genome.wustl.edu 37 2 176996147 176996147 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019558.2 +1 reviewed p.R227I 1.000 174 0% 62 29% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like HOXD3 3232 genome.wustl.edu 37 2 177034319 177034319 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006898.4 +1 reviewed p.Q159H 1.000 158 0% 77 20.8% - - possibly_damaging(0.892) tolerated(0.07) deleterious(0.670) NULL AGPS 8540 genome.wustl.edu 37 2 178310278 178310278 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003659.3 +1 reviewed p.R265Q 1.000 375 0% 159 34.6% - - possibly_damaging(0.922) deleterious(0.02) deleterious(0.754) HMMPfam_FAD_binding_4,superfamily_FAD-binding domain AGPS 8540 genome.wustl.edu 37 2 178402894 178402894 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003659.3 +1 reviewed p.N650D 1.000 380 0% 171 29.2% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_FAD-oxidase_C,superfamily_FAD-linked oxidases C-terminal domain TTC30A 92104 genome.wustl.edu 37 2 178481517 178481517 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152275.3 -1 validated p.R638I 0.960 644 0.2% 361 39.3% - - benign(0.049) tolerated(0.17) neutral(0.062) NULL TTC30A 92104 genome.wustl.edu 37 2 178483080 178483080 + Missense_Mutation SNP C C T rs186153843 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152275.3 -1 validated p.R117H 1.000 241 0% 125 36% - - possibly_damaging(0.836) deleterious(0.02) deleterious(0.703) superfamily_SSF48452 PDE11A 50940 genome.wustl.edu 37 2 178592832 178592832 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000433879 -1 known p.T227M 0.305 202 0% 110 35.5% - - - - - superfamily_HD-domain/PDEase-like OSBPL6 114880 genome.wustl.edu 37 2 179197623 179197623 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145739.1 +1 reviewed p.A150E 0.961 318 0% 208 35.1% - - possibly_damaging(0.538) tolerated(1) neutral(0.182) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 OSBPL6 114880 genome.wustl.edu 37 2 179247935 179247935 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145739.1 +1 reviewed p.L606 1.000 154 0% 107 37.4% - - - - - HMMPfam_Oxysterol_BP TTN 7273 genome.wustl.edu 37 2 179402291 179402291 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.R30645W 1.000 201 0.5% 144 34% - - probably_damaging(1) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179404920 179404920 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.R30088Q 1.000 631 0.2% 408 25.7% - - probably_damaging(0.99) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179416785 179416785 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133378.4 -1 reviewed p.E27713* 1.000 279 0% 178 33.1% - - probably_damaging(0.998) - - NULL TTN 7273 genome.wustl.edu 37 2 179422940 179422940 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.K26477N 1.000 124 0% 57 15.8% - - probably_damaging(0.983) - - HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179435390 179435390 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.R22587* 0.448 573 0% 357 10.9% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179438501 179438501 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.L21550I 1.000 177 0.6% 116 42.2% - - probably_damaging(0.974) - - HMMSmart_SM00409 TTN 7273 genome.wustl.edu 37 2 179438775 179438775 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.K21458N 0.996 240 0% 128 41.4% - - possibly_damaging(0.556) - - NULL TTN 7273 genome.wustl.edu 37 2 179458949 179458949 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.D16821N 0.999 181 0% 97 40.2% - - benign(0.29) - - HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179470217 179470217 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.F15367L 1.000 237 0% 143 30.8% - - benign(0.014) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179473408 179473408 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.R14876C 1.000 267 0.4% 148 38.5% - - possibly_damaging(0.737) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179476601 179476601 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.R14244I 1.000 318 0% 180 39.4% - - possibly_damaging(0.539) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179481953 179481953 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.G13355 1.000 220 0% 115 34.8% - - - - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179486228 179486228 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.R12540Q 0.999 495 0% 297 39.7% - - possibly_damaging(0.763) - - HMMSmart_SM00408,HMMSmart_SM00409 TTN 7273 genome.wustl.edu 37 2 179499952 179499952 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.I11420 0.999 634 0% 354 31.1% - - - - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179504465 179504465 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.A11045T 0.456 577 0% 265 32.8% - - benign(0.29) - - NULL TTN 7273 genome.wustl.edu 37 2 179536931 179536931 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.R10364I 0.008 211 0% 92 33.7% - - unknown(0) deleterious(0) - NULL TTN 7273 genome.wustl.edu 37 2 179547611 179547611 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.E9725D 0.796 734 0% 398 37.7% - - unknown(0) tolerated(0.11) - NULL TTN 7273 genome.wustl.edu 37 2 179549099 179549099 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.L9650I 0.999 540 0% 257 23.7% - - unknown(0) - - HMMPfam_PPAK TTN 7273 genome.wustl.edu 37 2 179559594 179559594 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.S9193Y 1.000 431 0% 197 34.5% - - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) NULL TTN 7273 genome.wustl.edu 37 2 179560727 179560727 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.E9114K 0.985 933 0% 501 34.3% - - unknown(0) deleterious(0.04) - NULL TTN 7273 genome.wustl.edu 37 2 179575795 179575795 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.L8146I 1.000 158 0% 74 37.8% - - unknown(0) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179578876 179578876 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.E7593K 1.000 239 0% 103 15.5% - - unknown(0) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179590254 179590254 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.E5649* 1.000 456 0% 264 15.5% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179592933 179592933 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356127 -1 known p.V5296I 0.671 175 0% 100 45% - - unknown(0) - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179603991 179603991 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000342175 -1 known p.N4486H 0.998 481 0% 257 39.7% - - benign(0.127) - - HMMSmart_SM00408,HMMSmart_SM00409 TTN 7273 genome.wustl.edu 37 2 179605566 179605566 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000342175 -1 known p.L3961I 0.203 289 0% 167 40.1% - - benign(0.29) - - NULL TTN 7273 genome.wustl.edu 37 2 179605675 179605675 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000342175 -1 known p.E3924 0.119 312 0% 140 40% - - - - - NULL TTN 7273 genome.wustl.edu 37 2 179611465 179611465 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133379.3 -1 reviewed p.S5221Y 0.998 317 0% 150 32.7% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179613102 179613102 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133379.3 -1 reviewed p.E4675D 0.002 171 0% 53 47.2% - - benign(0.008) deleterious(0) neutral(0.445) NULL TTN 7273 genome.wustl.edu 37 2 179614883 179614883 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133379.3 -1 reviewed p.H4082N 0.219 246 0% 150 28.7% - - benign(0.033) tolerated(0.37) neutral(0.021) NULL TTN 7273 genome.wustl.edu 37 2 179616129 179616129 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133379.3 -1 reviewed p.K3666N 0.049 404 0% 231 39.8% - - benign(0.111) deleterious(0.02) neutral(0.392) NULL TTN 7273 genome.wustl.edu 37 2 179621152 179621152 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000342175 -1 known p.K3513R 0.886 215 0% 142 35.2% - - unknown(0) - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409 TTN 7273 genome.wustl.edu 37 2 179640584 179640584 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133379.3 -1 reviewed p.R2003C 1.000 216 0% 124 37.1% - - possibly_damaging(0.737) - - NULL TTN 7273 genome.wustl.edu 37 2 179647598 179647598 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133379.3 -1 reviewed p.R1012Q 1.000 145 0% 74 31.1% - - possibly_damaging(0.465) - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179647686 179647686 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133379.3 -1 reviewed p.I983L 1.000 203 0% 86 30.2% - - benign(0.099) - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 CCDC141 285025 genome.wustl.edu 37 2 179737031 179737031 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173648.2 -1 provisional p.E61D 0.004 598 0% 338 37.9% - - benign(0.055) tolerated(0.61) neutral(0.007) NULL SESTD1 91404 genome.wustl.edu 37 2 179979860 179979860 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178123.4 -1 validated p.T591A 0.995 257 0% 101 13.9% - - benign(0.098) tolerated(0.19) neutral(0.057) HMMSmart_SPEC,superfamily_Spectrin CERKL 375298 genome.wustl.edu 37 2 182403971 182403971 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001030311.2 -1 reviewed p.E488D 1.000 291 0% 182 35.7% - - benign(0.007) tolerated(0.12) neutral(0.261) NULL SSFA2 6744 genome.wustl.edu 37 2 182761670 182761670 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130445.1 +1 validated p.D115Y 1.000 994 0.1% 397 37.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PPP1R1C 151242 genome.wustl.edu 37 2 182928463 182928463 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080545.1 +1 provisional p.Q62H 1.000 427 0% 245 29.8% - - probably_damaging(0.99) tolerated(0.4) neutral(0.458) HMMPfam_DARPP-32 LOC100287864 100287864 genome.wustl.edu 37 2 183731236 183731236 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342282.1 +1 model p.P168S 1.000 40 0% 40 15% - - - - - NULL DUSP19 142679 genome.wustl.edu 37 2 183943770 183943770 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080876.3 +1 validated p.D37N 1.000 535 0% 258 10.1% - - possibly_damaging(0.767) tolerated(0.28) neutral(0.316) NULL ZNF804A 91752 genome.wustl.edu 37 2 185801020 185801020 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194250.1 +1 provisional p.V299 0.000 50 0% 29 34.5% - - - - - NULL ZNF804A 91752 genome.wustl.edu 37 2 185801384 185801384 + Missense_Mutation SNP C C G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194250.1 +1 provisional p.Q421E 1.000 142 0% 62 25.8% - - benign(0.028) tolerated(0.26) neutral(0.036) NULL ZNF804A 91752 genome.wustl.edu 37 2 185802289 185802289 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194250.1 +1 provisional p.Y722 0.861 130 0% 64 10.9% - - - - - NULL FSIP2 401024 genome.wustl.edu 37 2 186671581 186671581 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000424728 +1 known p.D5850Y 0.001 174 0% 64 32.8% - - probably_damaging(0.982) deleterious(0.02) deleterious(0.809) NULL FSIP2 401024 genome.wustl.edu 37 2 186672403 186672403 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000424728 +1 known p.E6124* 0.979 91 0% 60 40% - - - - - NULL FSIP2 401024 genome.wustl.edu 37 2 186673098 186673098 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000424728 +1 known p.F6355L 0.992 20 0% 19 31.6% - - possibly_damaging(0.917) tolerated(0.45) neutral(0.380) NULL FSIP2 401024 genome.wustl.edu 37 2 186673349 186673349 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000424728 +1 known p.F6439C 0.169 143 0% 66 56.1% - - probably_damaging(0.973) deleterious(0.01) deleterious(0.821) NULL ITGAV 3685 genome.wustl.edu 37 2 187506265 187506265 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002210.3 +1 reviewed p.F370C 0.997 245 0% 142 14.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FG-GAP,HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain ITGAV 3685 genome.wustl.edu 37 2 187541575 187541575 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002210.3 +1 reviewed p.A988 0.037 429 0% 236 12.7% - - - - - superfamily_Integrin domains FAM171B 165215 genome.wustl.edu 37 2 187627229 187627229 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_177454.3 +1 validated p.L720 0.605 131 0% 57 42.1% - - - - - HMMPfam_UPF0560 CALCRL 10203 genome.wustl.edu 37 2 188216685 188216685 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005795.4 -1 validated p.L378F 1.000 318 0% 79 30.4% - - benign(0.31) tolerated(0.32) neutral(0.120) HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 GULP1 51454 genome.wustl.edu 37 2 189434076 189434076 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016315.2 +1 validated p.Q170H 1.000 280 0% 120 26.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GULP1 51454 genome.wustl.edu 37 2 189452778 189452778 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000451191 +1 known p.S140L 0.004 75 0% 38 34.2% - - - - - NULL COL5A2 1290 genome.wustl.edu 37 2 189899823 189899823 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000393.3 -1 reviewed p.R1391H 1.000 503 0% 210 40.5% - - probably_damaging(0.986) - - HMMPfam_COLFI,HMMSmart_COLFI COL5A2 1290 genome.wustl.edu 37 2 189904140 189904140 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000393.3 -1 reviewed p.K1261N 0.996 251 0% 144 41.7% - - benign(0.221) - - NULL ASNSD1 54529 genome.wustl.edu 37 2 190531090 190531090 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019048.2 +1 validated p.E78* 1.000 357 0% 206 31.1% - - - - - superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) ANKAR 150709 genome.wustl.edu 37 2 190541806 190541806 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144708.3 +1 validated p.F126C 1.000 46 0% 29 17.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ankyrin repeat ANKAR 150709 genome.wustl.edu 37 2 190603328 190603328 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144708.3 +1 validated p.H1136P 1.000 521 0% 255 35.7% - - possibly_damaging(0.838) tolerated(0.15) deleterious(0.561) superfamily_ARM repeat MSTN 2660 genome.wustl.edu 37 2 190924916 190924916 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005259.2 -1 reviewed p.D207Y 1.000 480 0% 227 41% - - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_TGFb_propeptide INPP1 3628 genome.wustl.edu 37 2 191224855 191224855 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128928.1 +1 reviewed p.L9 0.611 220 0% 96 41.7% - - - - - superfamily_Carbohydrate phosphatase MFSD6 54842 genome.wustl.edu 37 2 191301351 191301351 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017694.3 +1 validated p.R199I 0.746 340 0% 148 41.2% - - probably_damaging(1) tolerated(0.08) deleterious(0.800) superfamily_MFS_gen_substrate_transporter TMEM194B 100131211 genome.wustl.edu 37 2 191383715 191383715 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000343105 -1 known p.E83* 0.003 245 0% 123 13.8% - - - - - NULL GLS 2744 genome.wustl.edu 37 2 191759947 191759947 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014905.3 +1 validated p.E152D 1.000 137 0% 61 39.3% - - benign(0.008) tolerated(0.11) neutral(0.272) NULL GLS 2744 genome.wustl.edu 37 2 191792187 191792187 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014905.3 +1 validated p.F468 1.000 360 0% 214 30.4% - - - - - superfamily_beta-lactamase/transpeptidase-like,HMMPfam_Glutaminase STAT4 6775 genome.wustl.edu 37 2 191927490 191927490 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003151.2 -1 reviewed p.K313N 1.000 397 0% 261 41.4% - - benign(0.048) deleterious(0.02) neutral(0.386) HMMPfam_STAT_alpha,superfamily_STAT MYO1B 4430 genome.wustl.edu 37 2 192228910 192228910 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130158.1 +1 validated p.G314S 0.985 294 0.7% 165 32.7% - - benign(0) tolerated(0.36) neutral(0.020) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO1B 4430 genome.wustl.edu 37 2 192234335 192234335 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130158.1 +1 validated p.R367Q 1.000 225 0% 92 35.9% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO1B 4430 genome.wustl.edu 37 2 192275845 192275845 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000427152 +1 known p.E19* 1.000 270 0% 114 38.6% - - benign(0.146) tolerated(0.27) neutral(0.046) HMMPfam_Myosin_TH1 OBFC2A 64859 genome.wustl.edu 37 2 192543397 192543397 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031716.2 +1 validated p.K19N 1.000 91 1.1% 44 43.2% - - probably_damaging(0.993) tolerated(0.06) deleterious(0.772) superfamily_Nucleic acid-binding proteins OBFC2A 64859 genome.wustl.edu 37 2 192548993 192548993 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031716.2 +1 validated p.N139T 0.689 572 0% 257 35% - - benign(0.001) tolerated(0.35) neutral(0.021) NULL DNAH7 56171 genome.wustl.edu 37 2 196620973 196620973 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018897.2 -1 validated p.V3824F 0.993 287 0% 140 24.3% - - benign(0) tolerated(0.75) neutral(0.002) HMMPfam_Dynein_heavy DNAH7 56171 genome.wustl.edu 37 2 196651884 196651884 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018897.2 -1 validated p.K3576N 1.000 172 0% 121 33.1% - - possibly_damaging(0.671) deleterious(0.02) deleterious(0.621) HMMPfam_Dynein_heavy DNAH7 56171 genome.wustl.edu 37 2 196709789 196709789 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018897.2 -1 validated p.R2961Q 0.995 358 0% 181 33.7% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL DNAH7 56171 genome.wustl.edu 37 2 196720688 196720688 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018897.2 -1 validated p.K2814N 1.000 195 0% 85 35.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DNAH7 56171 genome.wustl.edu 37 2 196753109 196753109 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018897.2 -1 validated p.R1760I 1.000 159 0% 83 41% - - benign(0.186) tolerated(0.13) neutral(0.270) NULL DNAH7 56171 genome.wustl.edu 37 2 196825105 196825105 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018897.2 -1 validated p.E924* 1.000 147 0% 87 14.9% - - - - - HMMPfam_DHC_N2 DNAH7 56171 genome.wustl.edu 37 2 196849427 196849427 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018897.2 -1 validated p.D588N 0.898 317 0.3% 160 33.1% - - benign(0.001) tolerated(0.43) neutral(0.013) NULL HECW2 57520 genome.wustl.edu 37 2 197092955 197092955 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020760.1 -1 provisional p.R1263K 1.000 176 0% 106 10.4% - - probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain PGAP1 80055 genome.wustl.edu 37 2 197761892 197761892 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024989.3 -1 validated p.R297Q 1.000 149 0% 60 35% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PGAP1,superfamily_alpha/beta-Hydrolases PGAP1 80055 genome.wustl.edu 37 2 197784857 197784857 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024989.3 -1 validated p.K55N 1.000 359 0% 185 36.8% - - benign(0.008) tolerated(0.31) neutral(0.027) NULL SF3B1 23451 genome.wustl.edu 37 2 198265007 198265007 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012433.2 -1 reviewed p.R957Q 1.000 282 0% 142 28.9% - - probably_damaging(0.997) tolerated(0.09) deleterious(0.762) HMMPfam_HEAT,superfamily_ARM repeat SF3B1 23451 genome.wustl.edu 37 2 198273209 198273209 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012433.2 -1 reviewed p.R334I 1.000 219 0% 132 33.3% - - probably_damaging(0.961) deleterious(0.02) deleterious(0.787) HMMPfam_SF3b1 HSPD1 3329 genome.wustl.edu 37 2 198353833 198353833 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002156.4 -1 reviewed p.R370C 1.000 211 0% 122 38.5% - - possibly_damaging(0.867) deleterious(0.02) deleterious(0.720) HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase,superfamily_SSF52029 HSPD1 3329 genome.wustl.edu 37 2 198358872 198358872 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000430176 -1 known p.235 0.046 162 0% 68 32.4% - - - - - NULL MARS2 92935 genome.wustl.edu 37 2 198571779 198571779 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138395.2 +1 validated p.E550 0.004 189 0% 100 27% - - - - - superfamily_tRNAsyn_1a_bind PLCL1 5334 genome.wustl.edu 37 2 198948912 198948912 + Missense_Mutation SNP G G A rs61752177 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006226.3 +1 validated p.R126Q 0.997 271 0% 182 34.6% - - benign(0.108) tolerated(0.45) neutral(0.021) HMMSmart_PH PLCL1 5334 genome.wustl.edu 37 2 198968630 198968630 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006226.3 +1 validated p.E927D 1.000 288 0% 122 16.4% - - probably_damaging(0.999) tolerated(0.11) deleterious(0.762) NULL SATB2 23314 genome.wustl.edu 37 2 200213813 200213813 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015265.3 -1 reviewed p.A262T 1.000 679 0.1% 304 34.5% - - benign(0.002) tolerated(0.13) neutral(0.253) NULL SGOL2 151246 genome.wustl.edu 37 2 201436752 201436752 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152524.5 +1 validated p.N561K 0.049 71 0% 23 43.5% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL SGOL2 151246 genome.wustl.edu 37 2 201437671 201437671 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152524.5 +1 validated p.L868I 0.000 115 0% 42 16.7% - - benign(0) tolerated(0.31) neutral(0.027) NULL AOX1 316 genome.wustl.edu 37 2 201501668 201501668 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001159.3 +1 reviewed p.N794S 1.000 391 0% 246 40.7% - - possibly_damaging(0.728) tolerated(0.42) neutral(0.279) HMMPfam_Ald_Xan_dh_C2,superfamily_Molybdenum cofactor-binding domain FAM126B 285172 genome.wustl.edu 37 2 201846219 201846219 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173822.3 -1 validated p.S456* 1.000 309 0% 163 35% - - - - - NULL CFLAR 8837 genome.wustl.edu 37 2 202010147 202010147 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127183.1 +1 validated p.G218D 0.417 269 0% 128 47.7% - - benign(0) tolerated(0.89) - NULL CASP10 843 genome.wustl.edu 37 2 202050695 202050695 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032977.3 +1 reviewed p.L65 0.000 82 0% 55 34.5% - - - - - HMMPfam_DED,HMMSmart_DED,superfamily_DEATH_like CASP10 843 genome.wustl.edu 37 2 202073863 202073863 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032977.3 +1 reviewed p.E331 0.118 185 0% 115 42.6% - - - - - HMMPfam_Peptidase_C14,HMMSmart_CASc,superfamily_SSF52129 CASP8 841 genome.wustl.edu 37 2 202131364 202131364 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080125.1 +1 reviewed p.R111I 0.456 183 0% 113 32.7% - - possibly_damaging(0.832) deleterious(0.02) deleterious(0.700) HMMPfam_DED,HMMSmart_SM00031,superfamily_DEATH domain CASP8 841 genome.wustl.edu 37 2 202151207 202151207 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080125.1 +1 reviewed p.T503P 1.000 337 0% 187 34.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like ALS2CR12 130540 genome.wustl.edu 37 2 202211343 202211343 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139163.2 -1 validated p.S97Y 0.683 236 0% 135 12.6% - - possibly_damaging(0.814) tolerated(0.14) deleterious(0.557) NULL TRAK2 66008 genome.wustl.edu 37 2 202257694 202257694 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015049.2 -1 validated p.R351C 1.000 426 0% 227 24.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HAP1_N ALS2CR11 151254 genome.wustl.edu 37 2 202356898 202356898 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000439140 -1 known p.R1389I 0.095 211 0% 107 41.1% - - possibly_damaging(0.926) - - NULL ALS2CR11 151254 genome.wustl.edu 37 2 202359173 202359173 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000439140 -1 known p.L631I 0.000 297 0% 140 32.1% - - probably_damaging(0.991) - - NULL MPP4 58538 genome.wustl.edu 37 2 202512533 202512533 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033066.2 -1 reviewed p.R534* 1.000 277 0% 200 37% - - - - - HMMPfam_Guanylate_kin,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases MPP4 58538 genome.wustl.edu 37 2 202549867 202549867 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033066.2 -1 reviewed p.G165E 1.000 133 0% 86 40.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like MPP4 58538 genome.wustl.edu 37 2 202550737 202550737 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033066.2 -1 reviewed p.D133Y 1.000 309 0.6% 171 35.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_PDZ domain-like,HMMSmart_SM00569,HMMPfam_L27 ALS2 57679 genome.wustl.edu 37 2 202591475 202591475 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020919.3 -1 reviewed p.R1032C 1.000 196 0% 122 43.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CDK15 65061 genome.wustl.edu 37 2 202698625 202698625 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139158.1 +1 provisional p.L170I 1.000 479 0% 268 43.3% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FZD7 8324 genome.wustl.edu 37 2 202900987 202900987 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003507.1 +1 reviewed p.I539 1.000 28 0% 22 40.9% - - - - - HMMPfam_Frizzled FAM117B 150864 genome.wustl.edu 37 2 203630189 203630189 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173511.3 +1 validated p.I247T 1.000 117 0% 64 37.5% - - probably_damaging(0.982) tolerated(0.2) deleterious(0.475) NULL NBEAL1 65065 genome.wustl.edu 37 2 203972576 203972576 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001114132.1 +1 validated p.E509D 1.000 245 0% 144 31.9% - - possibly_damaging(0.945) tolerated(0.43) neutral(0.403) superfamily_ARM repeat NBEAL1 65065 genome.wustl.edu 37 2 204016198 204016198 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001114132.1 +1 validated p.P1796S 0.887 225 0% 108 20.4% - - probably_damaging(0.988) tolerated(0.7) neutral(0.440) NULL NBEAL1 65065 genome.wustl.edu 37 2 204037556 204037556 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001114132.1 +1 validated p.N2072 1.000 334 0% 128 15.6% - - - - - HMMPfam_Beach,superfamily_BEACH domain RAPH1 65059 genome.wustl.edu 37 2 204341869 204341869 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_203365.2 -1 validated p.S248Y 1.000 361 0% 206 37.4% - - benign(0.014) deleterious(0.03) neutral(0.365) NULL RAPH1 65059 genome.wustl.edu 37 2 204356005 204356005 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_213589.1 -1 validated p.R53I 1.000 463 0% 171 38% - - possibly_damaging(0.688) deleterious(0.02) deleterious(0.629) NULL CD28 940 genome.wustl.edu 37 2 204591673 204591673 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000374481 +1 known e3-1 0.061 171 0% 85 25.9% - - - - - - ICOS 29851 genome.wustl.edu 37 2 204801596 204801596 + Splice_Site SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012092.3 +1 reviewed e1+1 1.000 504 0% 224 34.4% - - - - - - PARD3B 117583 genome.wustl.edu 37 2 206041173 206041173 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152526.4 +1 validated p.P537L 0.002 207 0% 113 41.6% - - benign(0) tolerated(0.7) neutral(0.002) NULL PARD3B 117583 genome.wustl.edu 37 2 206057938 206057938 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152526.4 +1 validated p.V616 0.270 197 0% 91 12.1% - - - - - NULL INO80D 54891 genome.wustl.edu 37 2 206869530 206869530 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017759.4 -1 validated p.G882 0.715 447 0% 265 38.9% - - - - - NULL INO80D 54891 genome.wustl.edu 37 2 206920931 206920931 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017759.4 -1 validated p.P319S 1.000 153 0% 113 32.7% - - possibly_damaging(0.535) tolerated(0.23) neutral(0.223) NULL NDUFS1 4719 genome.wustl.edu 37 2 206994908 206994908 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005006.5 -1 reviewed p.R538W 1.000 161 0% 94 41.5% - - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMPfam_Molybdopterin,superfamily_SSF53706 NDUFS1 4719 genome.wustl.edu 37 2 207003231 207003231 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005006.5 -1 reviewed p.S457L 0.999 231 0% 96 34.4% - - benign(0.004) tolerated(0.06) neutral(0.323) HMMPfam_Molybdopterin,superfamily_SSF53706 NDUFS1 4719 genome.wustl.edu 37 2 207012290 207012290 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005006.5 -1 reviewed p.I172 0.985 416 0% 200 35% - - - - - superfamily_SSF54862 EEF1B2 1933 genome.wustl.edu 37 2 207026087 207026087 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001037663.1 +1 reviewed p.K74T 1.000 452 0% 280 33.9% - - benign(0.132) deleterious(0.05) neutral(0.356) superfamily_Glutathione S-transferase (GST) C-terminal domain SNORA41 619569 genome.wustl.edu 37 2 207027073 207027073 + RNA SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_002590.1 +1 validated NULL 0.997 57 0% 32 34.4% - - - - - - EEF1B2 1933 genome.wustl.edu 37 2 207027283 207027283 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001037663.1 +1 reviewed p.A156 0.981 306 0% 161 29.2% - - - - - HMMPfam_EF1_GNE,superfamily_eEF-1beta-like GPR1 2825 genome.wustl.edu 37 2 207041727 207041727 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098199.1 -1 validated p.A82V 1.000 152 0% 77 37.7% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZDBF2 57683 genome.wustl.edu 37 2 207169946 207169946 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020923.1 +1 validated p.D232Y 0.000 90 0% 42 40.5% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ZDBF2 57683 genome.wustl.edu 37 2 207172814 207172814 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020923.1 +1 validated p.E1188* 0.009 204 0% 106 43.4% - - - - - NULL ZDBF2 57683 genome.wustl.edu 37 2 207172829 207172829 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020923.1 +1 validated p.Q1193* 0.000 204 0% 96 24% - - - - - NULL ZDBF2 57683 genome.wustl.edu 37 2 207173927 207173927 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020923.1 +1 validated p.D1559Y 0.000 119 0% 71 35.2% - - probably_damaging(0.961) deleterious(0.02) deleterious(0.787) NULL ZDBF2 57683 genome.wustl.edu 37 2 207175774 207175774 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020923.1 +1 validated p.K2174N 0.023 103 0% 33 57.6% - - probably_damaging(0.98) deleterious(0.05) deleterious(0.769) NULL ZDBF2 57683 genome.wustl.edu 37 2 207175962 207175962 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020923.1 +1 validated p.R2237I 0.000 133 0% 60 41.7% - - possibly_damaging(0.926) deleterious(0) deleterious(0.819) NULL ADAM23 8745 genome.wustl.edu 37 2 207414829 207414829 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003812.2 +1 reviewed p.G293D 1.000 345 0% 133 33.1% - - benign(0.218) tolerated(1) neutral(0.021) NULL ADAM23 8745 genome.wustl.edu 37 2 207425919 207425919 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003812.2 +1 reviewed p.G413* 1.000 587 0% 284 32.4% - - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" DYTN 391475 genome.wustl.edu 37 2 207564514 207564514 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001093730.1 -1 provisional p.A219D 0.037 299 0% 150 41.3% - - possibly_damaging(0.512) deleterious(0) deleterious(0.617) superfamily_SSF47473 MDH1B 130752 genome.wustl.edu 37 2 207629988 207629988 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039845.1 -1 validated p.K3T 1.000 126 0% 65 40% - - possibly_damaging(0.937) deleterious(0.04) deleterious(0.732) NULL KLF7 8609 genome.wustl.edu 37 2 207953246 207953246 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003709.2 -1 provisional p.E265* 1.000 365 0% 219 34.7% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers METTL21A 151194 genome.wustl.edu 37 2 208478143 208478143 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127395.1 -1 validated p.R95Q 1.000 145 0% 86 33.7% - - probably_damaging(1) tolerated(0.27) deleterious(0.533) HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases C2orf80 389073 genome.wustl.edu 37 2 209047764 209047764 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099334.2 -1 validated p.Y44C 1.000 201 0% 113 23% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PIKFYVE 200576 genome.wustl.edu 37 2 209141499 209141499 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015040.3 +1 reviewed p.R129Q 1.000 205 0% 118 31.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PIKFYVE 200576 genome.wustl.edu 37 2 209189703 209189703 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015040.3 +1 reviewed p.T800 0.830 412 0% 214 29.9% - - - - - HMMPfam_Cpn60_TCP1,superfamily_GroEL apical domain-like,superfamily_GroEL-intermediate domain like PIKFYVE 200576 genome.wustl.edu 37 2 209190072 209190072 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015040.3 +1 reviewed p.D846G 1.000 227 0% 184 32.1% - - possibly_damaging(0.451) tolerated(0.33) neutral(0.171) HMMPfam_Cpn60_TCP1,superfamily_GroEL-intermediate domain like PIKFYVE 200576 genome.wustl.edu 37 2 209190824 209190824 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015040.3 +1 reviewed p.E1097* 1.000 137 0% 70 32.9% - - - - - NULL MAP2 4133 genome.wustl.edu 37 2 210557748 210557748 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002374.3 +1 reviewed p.S285Y 1.000 74 0% 51 47.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MAP2 4133 genome.wustl.edu 37 2 210558590 210558590 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002374.3 +1 reviewed p.K566E 1.000 152 0% 78 37.2% - - possibly_damaging(0.949) deleterious(0) deleterious(0.838) HMMPfam_MAP2_projctn MAP2 4133 genome.wustl.edu 37 2 210560557 210560557 + Missense_Mutation SNP G G C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002374.3 +1 reviewed p.L1221F 0.044 177 0% 88 45.5% - - benign(0.313) tolerated(0.17) neutral(0.157) HMMPfam_MAP2_projctn UNC80 285175 genome.wustl.edu 37 2 210685193 210685193 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032504.1 +1 validated p.L707F 0.997 321 0% 176 42% - - benign(0) deleterious(0.04) neutral(0.349) NULL UNC80 285175 genome.wustl.edu 37 2 210696276 210696276 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032504.1 +1 validated p.C912 0.998 241 0% 113 31.9% - - - - - NULL UNC80 285175 genome.wustl.edu 37 2 210745750 210745750 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032504.1 +1 validated p.L1350M 1.000 263 0% 197 38.1% - - probably_damaging(0.996) tolerated(0.09) deleterious(0.758) NULL UNC80 285175 genome.wustl.edu 37 2 210801619 210801619 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032504.1 +1 validated p.L2043I 1.000 424 0% 225 33.8% - - probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL UNC80 285175 genome.wustl.edu 37 2 210808137 210808137 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032504.1 +1 validated p.R2251C 1.000 258 0% 138 40.6% - - probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL UNC80 285175 genome.wustl.edu 37 2 210860235 210860235 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032504.1 +1 validated p.E3231 1.000 140 0% 90 34.4% - - - - - NULL RPE 6120 genome.wustl.edu 37 2 210880791 210880791 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199229.1 +1 provisional p.E99D 1.000 272 0% 172 33.1% - - benign(0) tolerated(0.76) neutral(0.001) HMMPfam_Ribul_P_3_epim,superfamily_Ribulose-phoshate binding barrel KANSL1L 151050 genome.wustl.edu 37 2 210893658 210893658 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152519.2 -1 validated p.S769 1.000 399 0% 220 43.2% - - - - - NULL KANSL1L 151050 genome.wustl.edu 37 2 210905246 210905246 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152519.2 -1 validated p.P643S 1.000 281 0% 150 36.7% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL ACADL 33 genome.wustl.edu 37 2 211082810 211082810 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001608.3 -1 reviewed p.E84* 1.000 414 0% 170 34.1% - - - - - HMMPfam_Acyl-CoA_dh_N,superfamily_AcylCoA_dehyd_NM ACADL 33 genome.wustl.edu 37 2 211085456 211085456 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001608.3 -1 reviewed p.R50 1.000 260 0% 161 29.8% - - - - - superfamily_AcylCoA_dehyd_NM MYL1 4632 genome.wustl.edu 37 2 211159056 211159056 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_079420.2 -1 reviewed p.D131N 1.000 522 0% 309 42.4% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00054,superfamily_EF-hand MYL1 4632 genome.wustl.edu 37 2 211167231 211167231 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_079420.2 -1 reviewed p.F47 1.000 300 0% 169 30.8% - - - - - superfamily_EF-hand LANCL1 10314 genome.wustl.edu 37 2 211306088 211306088 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136574.1 -1 reviewed p.L163I 1.000 301 0% 141 31.2% - - benign(0.006) tolerated(0.13) neutral(0.253) HMMPfam_LANC_like ERBB4 2066 genome.wustl.edu 37 2 212495187 212495187 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005235.2 -1 reviewed p.E693D 1.000 275 0% 146 36.3% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL ERBB4 2066 genome.wustl.edu 37 2 212587251 212587251 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005235.2 -1 reviewed p.M250I 1.000 403 0% 211 11.4% - - benign(0.289) deleterious(0.05) neutral(0.434) HMMPfam_Furin-like,HMMSmart_SM00261,superfamily_Growth factor receptor domain ERBB4 2066 genome.wustl.edu 37 2 212652804 212652804 + Missense_Mutation SNP G G A rs138433638 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005235.2 -1 reviewed p.R168W 1.000 241 0% 118 22.9% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_L domain-like SPAG16 79582 genome.wustl.edu 37 2 214181971 214181971 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024532.3 +1 validated p.E143K 0.005 386 0% 129 24% - - benign(0.001) tolerated(0.9) - superfamily_WD40 repeat-like ABCA12 26154 genome.wustl.edu 37 2 215884385 215884385 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173076.2 -1 reviewed p.E475K 0.186 212 0% 108 31.5% - - benign(0.021) tolerated(0.06) neutral(0.324) NULL ABCA12 26154 genome.wustl.edu 37 2 215884484 215884484 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173076.2 -1 reviewed p.E442* 0.997 114 0% 63 41.3% - - - - - NULL ABCA12 26154 genome.wustl.edu 37 2 215910661 215910661 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173076.2 -1 reviewed p.E258* 1.000 304 0% 158 37.3% - - - - - NULL FN1 2335 genome.wustl.edu 37 2 216238122 216238122 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_212482.1 -1 reviewed p.G2057V 0.990 421 0% 273 44.7% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FN1 2335 genome.wustl.edu 37 2 216240034 216240034 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_212482.1 -1 reviewed p.R2020 0.982 146 0% 93 34.4% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FN1 2335 genome.wustl.edu 37 2 216243945 216243945 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_212482.1 -1 reviewed p.R1844* 1.000 288 0% 184 28.3% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FN1 2335 genome.wustl.edu 37 2 216269369 216269369 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_212482.1 -1 reviewed p.A999V 1.000 144 0% 74 36.5% - - benign(0.017) tolerated(0.07) neutral(0.320) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FN1 2335 genome.wustl.edu 37 2 216271097 216271097 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_212482.1 -1 reviewed p.H950 0.000 104 0% 87 33.3% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FN1 2335 genome.wustl.edu 37 2 216279574 216279574 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_212482.1 -1 reviewed p.L643I 1.000 280 0% 116 13.8% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FN1 2335 genome.wustl.edu 37 2 216288200 216288200 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_212482.1 -1 reviewed p.F422 1.000 357 0% 171 33.9% - - - - - HMMPfam_fn2,HMMSmart_SM00059,PatternScan_FN2_1,superfamily_Kringle-like TMEM169 92691 genome.wustl.edu 37 2 216964945 216964945 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142310.1 +1 validated p.L192I 1.000 509 0% 285 23.9% - - probably_damaging(1) tolerated(0.13) deleterious(0.752) NULL XRCC5 7520 genome.wustl.edu 37 2 216986888 216986888 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021141.3 +1 reviewed p.E199K 0.257 278 0% 128 30.5% - - benign(0.042) tolerated(0.27) neutral(0.036) HMMSmart_VWA,HMMPfam_Ku_N,superfamily_SSF53300 XRCC5 7520 genome.wustl.edu 37 2 217069114 217069114 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021141.3 +1 reviewed p.D727N 1.000 356 0% 132 29.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TNS1 7145 genome.wustl.edu 37 2 218682617 218682617 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022648.4 -1 reviewed p.A1376T 0.975 164 0% 93 34.4% - - possibly_damaging(0.872) deleterious(0.05) deleterious(0.684) NULL TNS1 7145 genome.wustl.edu 37 2 218712919 218712919 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022648.4 -1 reviewed p.S649L 0.998 52 0% 43 41.9% - - benign(0.235) deleterious(0) neutral(0.468) NULL TNS1 7145 genome.wustl.edu 37 2 218762620 218762620 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022648.4 -1 reviewed p.I23 0.771 155 0% 127 36.2% - - - - - superfamily_SSF52799 CXCR1 3577 genome.wustl.edu 37 2 219029581 219029581 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000634.2 -1 reviewed p.E118D 0.988 319 0% 213 38% - - possibly_damaging(0.505) deleterious(0.03) deleterious(0.533) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PNKD 25953 genome.wustl.edu 37 2 219136137 219136137 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015488.4 +1 reviewed p.S34Y 0.993 131 0% 72 29.2% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL C2orf62 375307 genome.wustl.edu 37 2 219232222 219232222 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198559.1 +1 predicted p.S301L 0.098 195 0% 107 13.1% - - benign(0.042) deleterious(0) neutral(0.447) NULL VIL1 7429 genome.wustl.edu 37 2 219300074 219300074 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007127.2 +1 reviewed p.E581D 1.000 131 0.8% 71 23.9% - - benign(0.001) tolerated(1) - HMMSmart_GEL,HMMPfam_Gelsolin,superfamily_SSF55753 RQCD1 9125 genome.wustl.edu 37 2 219457412 219457412 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005444.1 +1 provisional p.R238Q 1.000 272 0% 119 41.2% - - possibly_damaging(0.908) deleterious(0) deleterious(0.806) HMMPfam_Rcd1,superfamily_ARM repeat PLCD4 84812 genome.wustl.edu 37 2 219483493 219483493 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032726.2 +1 provisional p.L125I 0.010 68 0% 56 26.8% - - benign(0.004) tolerated(0.39) neutral(0.016) HMMSmart_SM00233 TTLL4 9654 genome.wustl.edu 37 2 219604833 219604833 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014640.4 +1 validated p.E514* 0.998 418 0% 203 29.6% - - - - - NULL TTLL4 9654 genome.wustl.edu 37 2 219617682 219617682 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014640.4 +1 validated p.G1058D 0.991 363 0% 319 37.3% - - benign(0.025) tolerated(0.34) neutral(0.024) NULL PRKAG3 53632 genome.wustl.edu 37 2 219692351 219692351 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017431.2 -1 reviewed p.E274D 1.000 209 0% 155 29.7% - - benign(0) tolerated(0.1) neutral(0.286) HMMPfam_CBS WNT10A 80326 genome.wustl.edu 37 2 219754716 219754716 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025216.2 +1 reviewed p.E129D 1.000 163 0% 96 22.9% - - probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_wnt,HMMSmart_SM00097 CRYBA2 1412 genome.wustl.edu 37 2 219855604 219855604 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005209.1 -1 reviewed p.D139G 1.000 133 0% 77 36.4% - - benign(0.004) deleterious(0.04) neutral(0.349) HMMPfam_Crystall,HMMSmart_SM00247,superfamily_gamma-Crystallin-like CCDC108 255101 genome.wustl.edu 37 2 219875639 219875639 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194302.2 -1 provisional p.K1346T 1.000 180 0% 124 30.6% - - possibly_damaging(0.937) tolerated(0.11) deleterious(0.655) NULL CCDC108 255101 genome.wustl.edu 37 2 219888855 219888855 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194302.2 -1 provisional p.S826L 0.004 121 0.8% 66 40.9% - - possibly_damaging(0.742) tolerated(0.07) deleterious(0.591) superfamily_PapD-like NHEJ1 79840 genome.wustl.edu 37 2 220012390 220012390 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024782.2 -1 reviewed p.T173M 0.000 428 0% 232 38.4% - - benign(0.05) tolerated(0.11) neutral(0.275) HMMPfam_XLF NHEJ1 79840 genome.wustl.edu 37 2 220022258 220022258 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024782.2 -1 reviewed p.R109Q 1.000 185 0% 132 16.7% - - benign(0.253) tolerated(0.19) neutral(0.075) HMMPfam_XLF ZFAND2B 130617 genome.wustl.edu 37 2 220073722 220073722 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138802.1 +1 provisional p.A227V 1.000 118 0% 105 34.3% - - probably_damaging(0.991) tolerated(0.08) deleterious(0.744) HMMPfam_UIM,HMMSmart_SM00726 ABCB6 10058 genome.wustl.edu 37 2 220080750 220080750 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005689.1 -1 reviewed p.R375W 1.000 21 0% 26 57.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain TUBA4A 7277 genome.wustl.edu 37 2 220115876 220115876 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006000.1 -1 reviewed p.V182A 1.000 273 0% 160 23.1% - - possibly_damaging(0.894) deleterious(0) deleterious(0.796) HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like SPEG 10290 genome.wustl.edu 37 2 220348754 220348754 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005876.4 +1 validated p.K2190T 0.000 106 0% 41 31.7% - - possibly_damaging(0.919) deleterious(0.02) deleterious(0.752) NULL SPEG 10290 genome.wustl.edu 37 2 220354612 220354612 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005876.4 +1 validated p.R2958* 1.000 31 0% 23 26.1% - - - - - superfamily_Protein kinase-like (PK-like) SPEG 10290 genome.wustl.edu 37 2 220355272 220355272 + Silent SNP G G A rs191833179 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005876.4 +1 validated p.R3021 1.000 75 0% 48 41.7% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ASIC4 55515 genome.wustl.edu 37 2 220379567 220379567 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018674.4 +1 reviewed p.D168Y 1.000 16 0% 13 53.8% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL TMEM198 130612 genome.wustl.edu 37 2 220412329 220412329 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005209.1 +1 provisional p.L90 1.000 214 0% 121 33.1% - - - - - NULL EPHA4 2043 genome.wustl.edu 37 2 222428881 222428881 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004438.3 -1 reviewed p.N131 0.964 275 0% 143 40.6% - - - - - HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,superfamily_Gal_bind_like SGPP2 130367 genome.wustl.edu 37 2 223386613 223386613 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152386.2 +1 provisional p.A169V 1.000 108 0% 90 14.4% - - probably_damaging(1) tolerated(0.66) deleterious(0.502) HMMPfam_PAP2,HMMSmart_SM00014,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase ACSL3 2181 genome.wustl.edu 37 2 223773807 223773807 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004457.3 +1 reviewed p.G106E 1.000 226 0% 95 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF56801 WDFY1 57590 genome.wustl.edu 37 2 224763760 224763760 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020830.3 -1 reviewed p.F171 1.000 283 0% 134 38.8% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like WDFY1 57590 genome.wustl.edu 37 2 224770686 224770686 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020830.3 -1 reviewed p.M104I 1.000 418 0% 173 32.4% - - benign(0.064) tolerated(0.17) neutral(0.063) HMMSmart_SM00320,superfamily_WD40 repeat-like MRPL44 65080 genome.wustl.edu 37 2 224824263 224824263 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022915.3 +1 reviewed p.P64 0.985 84 0% 71 19.7% - - - - - superfamily_RNase_III CUL3 8452 genome.wustl.edu 37 2 225378246 225378246 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003590.3 -1 validated p.F217V 1.000 130 0% 68 25% - - benign(0.177) deleterious(0) neutral(0.461) HMMPfam_Cullin,superfamily_Cullin repeat DOCK10 55619 genome.wustl.edu 37 2 225651788 225651788 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014689.2 -1 validated p.S1869L 1.000 221 0% 141 68.8% - - benign(0.363) deleterious(0.04) neutral(0.464) NULL DOCK10 55619 genome.wustl.edu 37 2 225659689 225659689 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000409802 -1 known p.P413S 1.000 356 0.3% 267 32.6% - - - - - NULL DOCK10 55619 genome.wustl.edu 37 2 225670001 225670001 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014689.2 -1 validated p.R1325* 1.000 257 0% 136 11% - - - - - NULL DOCK10 55619 genome.wustl.edu 37 2 225672773 225672773 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014689.2 -1 validated p.F1147C 1.000 307 0% 175 38.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL IRS1 3667 genome.wustl.edu 37 2 227661897 227661897 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005544.2 -1 reviewed p.R520W 0.930 54 0% 38 13.2% - - probably_damaging(0.983) deleterious(0.05) deleterious(0.774) NULL COL4A4 1286 genome.wustl.edu 37 2 227872101 227872101 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000092.4 -1 reviewed p.K1671 0.838 420 0.2% 235 30.6% - - - - - HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like COL4A3 1285 genome.wustl.edu 37 2 228122332 228122332 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000091.3 +1 reviewed p.D334G 0.670 443 0% 247 30.8% - - unknown(0) tolerated(0.26) - HMMPfam_Collagen COL4A3 1285 genome.wustl.edu 37 2 228168598 228168598 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000091.3 +1 reviewed p.L1327I 0.993 272 0% 109 27.5% - - unknown(0) tolerated(0.4) - HMMPfam_Collagen COL4A3 1285 genome.wustl.edu 37 2 228168773 228168773 + Missense_Mutation SNP C C G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000091.3 +1 reviewed p.L1356V 0.869 148 0% 86 29.1% - - unknown(0) tolerated(0.91) - NULL MFF 56947 genome.wustl.edu 37 2 228195398 228195398 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020194.4 +1 provisional p.R32Q 1.000 218 0% 101 38.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF800 AGFG1 3267 genome.wustl.edu 37 2 228401360 228401360 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135187.1 +1 reviewed p.P433S 1.000 201 0% 114 36.8% - - benign(0.009) tolerated(0.44) neutral(0.013) NULL SLC19A3 80704 genome.wustl.edu 37 2 228564165 228564165 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025243.3 -1 reviewed p.S89N 0.799 164 0% 99 29.3% - - possibly_damaging(0.477) deleterious(0.04) deleterious(0.506) HMMPfam_Folate_carrier,superfamily_MFS_gen_substrate_transporter SPHKAP 80309 genome.wustl.edu 37 2 228855738 228855738 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142644.1 -1 validated p.S1646Y 1.000 238 0% 132 9.8% - - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) HMMPfam_AKAP_110 SPHKAP 80309 genome.wustl.edu 37 2 228882694 228882694 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142644.1 -1 validated p.F959S 1.000 258 0% 167 35.3% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL SPHKAP 80309 genome.wustl.edu 37 2 228892252 228892252 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142644.1 -1 validated p.F85C 1.000 286 0% 174 36.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNER 92737 genome.wustl.edu 37 2 230312257 230312257 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139072.3 -1 validated e8-1 1.000 43 0% 35 34.3% - - - - - - TRIP12 9320 genome.wustl.edu 37 2 230636299 230636299 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004238.1 -1 provisional p.S1840L 1.000 239 0% 81 35.8% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT SP140 11262 genome.wustl.edu 37 2 231150507 231150507 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007237.4 +1 validated p.K535N 0.006 440 0% 212 34% - - possibly_damaging(0.923) tolerated(0.06) deleterious(0.695) NULL SP140 11262 genome.wustl.edu 37 2 231157365 231157365 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007237.4 +1 validated p.I610 0.000 394 0% 209 37.8% - - - - - HMMPfam_SAND,HMMSmart_SM00258,superfamily_SAND domain-like SP140L 93349 genome.wustl.edu 37 2 231248272 231248272 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138402.4 +1 provisional p.K229Q 0.000 691 0% 258 41.9% - - possibly_damaging(0.751) tolerated(0.13) deleterious(0.528) NULL SP140L 93349 genome.wustl.edu 37 2 231265703 231265703 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138402.4 +1 provisional p.K449N 0.009 478 0.2% 258 18.2% - - possibly_damaging(0.931) tolerated(0.1) deleterious(0.664) superfamily_FYVE/PHD zinc finger,HMMPfam_PHD SPATA3 130560 genome.wustl.edu 37 2 231865178 231865178 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139073.3 +1 validated p.I133 1.000 53 0% 65 49.2% - - - - - NULL PSMD1 5707 genome.wustl.edu 37 2 231937053 231937053 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002807.2 +1 reviewed p.R269* 1.000 410 0% 257 15.6% - - - - - NULL PSMD1 5707 genome.wustl.edu 37 2 232003643 232003643 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000447633 +1 known p.A185 0.665 69 0% 39 28.2% - - benign(0.019) - - NULL B3GNT7 93010 genome.wustl.edu 37 2 232263034 232263034 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145236.2 +1 validated p.D202N 1.000 53 0% 44 54.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Galactosyl_T NCL 4691 genome.wustl.edu 37 2 232321448 232321448 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005381.2 -1 reviewed p.F533 0.943 283 0% 131 28.2% - - - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 NCL 4691 genome.wustl.edu 37 2 232321772 232321772 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005381.2 -1 reviewed p.E504A 1.000 584 0% 325 41.8% - - possibly_damaging(0.76) deleterious(0.03) deleterious(0.645) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 ALPI 248 genome.wustl.edu 37 2 233321363 233321363 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001631.3 +1 reviewed p.T86 0.000 136 0% 68 36.8% - - - - - HMMPfam_Alk_phosphatase,HMMSmart_SM00098,superfamily_Alkaline phosphatase-like EIF4E2 9470 genome.wustl.edu 37 2 233431582 233431582 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004846.2 +1 validated p.R140Q 1.000 506 0% 249 31.7% - - benign(0.427) deleterious(0.01) deleterious(0.544) HMMPfam_IF4E,superfamily_Translation initiation factor eIF4e GIGYF2 26058 genome.wustl.edu 37 2 233613721 233613721 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001103147.1 +1 reviewed p.E66* 1.000 219 0% 118 11% - - - - - NULL KCNJ13 3769 genome.wustl.edu 37 2 233633360 233633360 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002242.4 -1 reviewed p.L208 1.000 358 0% 205 34.6% - - - - - HMMPfam_IRK,superfamily_E set domains GIGYF2 26058 genome.wustl.edu 37 2 233671241 233671241 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001103147.1 +1 reviewed p.A581 0.915 562 0% 241 34.9% - - - - - HMMPfam_GYF,HMMSmart_GYF,superfamily_GYF GIGYF2 26058 genome.wustl.edu 37 2 233681608 233681608 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001103147.1 +1 reviewed p.M767L 1.000 368 0% 136 33.1% - - unknown(0) tolerated(1) - NULL NGEF 25791 genome.wustl.edu 37 2 233839365 233839365 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019850.2 -1 validated p.D79G 0.000 694 0% 389 36.2% - - benign(0) deleterious(0.03) neutral(0.364) NULL DGKD 8527 genome.wustl.edu 37 2 234357951 234357951 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152879.2 +1 reviewed p.R606Q 0.971 119 0% 78 29.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DGKD 8527 genome.wustl.edu 37 2 234363466 234363466 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152879.2 +1 reviewed p.A774 0.189 313 0% 143 39.2% - - - - - HMMPfam_DAGK_acc,HMMSmart_SM00045 USP40 55230 genome.wustl.edu 37 2 234421238 234421238 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018218.2 -1 validated p.R816I 0.963 197 0% 74 37.8% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL USP40 55230 genome.wustl.edu 37 2 234465631 234465631 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018218.2 -1 validated p.R151Q 1.000 170 0% 101 21.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_UCH,superfamily_Cysteine proteinases UGT1A10 54575 genome.wustl.edu 37 2 234545238 234545238 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019075.2 +1 reviewed p.E24K 0.214 299 0% 217 35% - - benign(0.001) tolerated(0.13) neutral(0.253) NULL UGT1A7 54577 genome.wustl.edu 37 2 234590891 234590891 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019077.2 +1 reviewed p.R103Q 0.000 317 0% 200 45.5% - - benign(0) tolerated(0.63) neutral(0.004) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT1A4 54657 genome.wustl.edu 37 2 234628239 234628239 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007120.2 +1 reviewed p.R258Q 0.140 422 0% 319 35.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase DNAJB3 414061 genome.wustl.edu 37 2 234652170 234652170 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001394.3 -1 validated p.G131 0.041 62 0% 39 33.3% - - - - - NULL UGT1A1 54658 genome.wustl.edu 37 2 234669244 234669244 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000463.2 +1 reviewed p.S104Y 0.056 172 0% 120 40% - - benign(0.038) tolerated(0.35) neutral(0.022) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase HJURP 55355 genome.wustl.edu 37 2 234749822 234749822 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018410.3 -1 validated p.R535H 0.000 624 0% 364 37.1% - - probably_damaging(0.998) tolerated(0.51) deleterious(0.483) NULL SH3BP4 23677 genome.wustl.edu 37 2 235951000 235951000 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014521.2 +1 reviewed p.F529 0.370 194 0% 106 34.9% - - - - - NULL AGAP1 116987 genome.wustl.edu 37 2 236706464 236706464 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001037131.1 +1 validated p.S245 0.070 111 0% 132 26.5% - - - - - NULL IQCA1 79781 genome.wustl.edu 37 2 237272583 237272583 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024726.3 -1 provisional p.S570L 0.538 324 0% 189 34.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases IQCA1 79781 genome.wustl.edu 37 2 237396807 237396807 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024726.3 -1 provisional p.D162N 0.986 260 0.4% 168 35.1% - - benign(0.119) tolerated(0.08) neutral(0.309) NULL COL6A3 1293 genome.wustl.edu 37 2 238234251 238234251 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004369.3 -1 reviewed p.E3149K 0.659 478 0% 268 72.4% - - unknown(0) - - HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like COL6A3 1293 genome.wustl.edu 37 2 238277290 238277290 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004369.3 -1 reviewed p.E1606* 0.702 148 0% 73 37% - - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL6A3 1293 genome.wustl.edu 37 2 238289603 238289603 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004369.3 -1 reviewed p.P618S 0.999 87 0% 46 10.9% - - benign(0.035) tolerated(0.31) neutral(0.029) HMMPfam_VWA,HMMSmart_SM00327 RBM44 375316 genome.wustl.edu 37 2 238738012 238738012 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080504.2 +1 validated p.R919I 0.000 264 0% 95 34.7% - - possibly_damaging(0.852) tolerated(0.1) deleterious(0.614) NULL RAMP1 10267 genome.wustl.edu 37 2 238820254 238820254 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005855.2 +1 reviewed p.F92L 1.000 36 0% 43 25.6% - - benign(0.213) tolerated(0.05) neutral(0.366) HMMPfam_RAMP ESPNL 339768 genome.wustl.edu 37 2 239025586 239025586 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194312.2 +1 validated p.R300W 0.600 79 0% 53 24.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,superfamily_Ankyrin repeat ILKAP 80895 genome.wustl.edu 37 2 239098610 239098610 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030768.2 -1 reviewed p.S61Y 1.000 438 0% 301 36.2% - - probably_damaging(0.953) deleterious(0.01) deleterious(0.802) NULL PER2 8864 genome.wustl.edu 37 2 239169537 239169537 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022817.2 -1 reviewed p.E492K 1.000 46 0% 45 35.6% - - probably_damaging(0.997) tolerated(0.06) deleterious(0.788) NULL TRAF3IP1 26146 genome.wustl.edu 37 2 239237579 239237579 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015650.3 +1 validated p.A171T 0.784 294 0.3% 103 40.8% - - benign(0) tolerated(0.34) neutral(0.023) HMMPfam_MIP-T3 ASB1 51665 genome.wustl.edu 37 2 239344467 239344467 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040445.1 +1 reviewed p.E103K 0.999 93 0% 54 33.3% - - possibly_damaging(0.513) tolerated(0.17) neutral(0.231) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK TWIST2 117581 genome.wustl.edu 37 2 239757291 239757291 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_057179.1 +1 reviewed p.F145L 1.000 36 0% 39 30.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HDAC4 9759 genome.wustl.edu 37 2 240003822 240003822 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006037.3 -1 reviewed p.F871 1.000 202 0% 65 20% - - - - - HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase NDUFA10 4705 genome.wustl.edu 37 2 240957978 240957978 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004544.3 -1 reviewed p.R180Q 0.996 168 0% 66 18.2% - - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_dNK,superfamily_SSF52540 MYEOV2 150678 genome.wustl.edu 37 2 241066036 241066036 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138336.1 -1 validated p.V235I 0.000 405 0% 287 23.7% - - unknown(0) - - NULL ANKMY1 51281 genome.wustl.edu 37 2 241452326 241452326 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016552.2 -1 validated p.A591T 0.861 117 0% 115 39.1% - - possibly_damaging(0.664) tolerated(0.07) deleterious(0.554) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ANKMY1 51281 genome.wustl.edu 37 2 241465732 241465732 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016552.2 -1 validated p.E273K 0.039 232 0% 163 24.5% - - benign(0.001) tolerated(0.69) neutral(0.002) superfamily_Ankyrin repeat RNPEPL1 57140 genome.wustl.edu 37 2 241514991 241514991 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018226.3 +1 provisional p.P261S 1.000 99 0% 44 43.2% - - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) superfamily_SSF55486 RNPEPL1 57140 genome.wustl.edu 37 2 241517180 241517180 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018226.3 +1 provisional p.P452 0.000 22 0% 19 42.1% - - - - - NULL SNED1 25992 genome.wustl.edu 37 2 242002212 242002212 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080437.1 +1 provisional p.I754 0.002 176 0% 142 38% - - - - - HMMSmart_SM00179,superfamily_Complement control module/SCR domain,PatternScan_EGF_CA,superfamily_EGF/Laminin SNED1 25992 genome.wustl.edu 37 2 242026887 242026887 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080437.1 +1 provisional p.N1401S 0.014 128 0% 66 39.4% - - benign(0) tolerated(0.09) neutral(0.296) NULL MTERFD2 130916 genome.wustl.edu 37 2 242038994 242038994 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182501.3 -1 validated p.L113I 0.375 155 0% 103 33% - - probably_damaging(0.955) tolerated(0.26) neutral(0.432) HMMPfam_mTERF PASK 23178 genome.wustl.edu 37 2 242062183 242062183 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015148.2 -1 validated p.F1012 0.957 110 0% 57 35.1% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase PASK 23178 genome.wustl.edu 37 2 242063486 242063486 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015148.2 -1 validated p.L928 1.000 57 0% 54 37% - - - - - NULL PASK 23178 genome.wustl.edu 37 2 242065629 242065629 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015148.2 -1 validated p.R901* 0.977 54 0% 38 34.2% - - - - - NULL ANO7 50636 genome.wustl.edu 37 2 242151524 242151524 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001891.3 +1 validated p.Q580P 0.998 172 0% 85 35.3% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL HDLBP 3069 genome.wustl.edu 37 2 242179436 242179436 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000373292 -1 known p.W566R 0.000 323 0% 232 37.5% - - - - - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) FARP2 9855 genome.wustl.edu 37 2 242432824 242432824 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014808.2 +1 validated p.Y1004* 1.000 197 0% 124 32.3% - - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ATG4B 23192 genome.wustl.edu 37 2 242594745 242594745 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013325.4 +1 reviewed p.A149T 1.000 325 0.3% 199 10.1% - - possibly_damaging(0.943) deleterious(0.02) deleterious(0.770) HMMPfam_Peptidase_C54 CHL1 10752 genome.wustl.edu 37 3 405019 405019 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006614.2 +1 reviewed p.E513G 0.985 405 0% 235 53.2% - - benign(0.01) tolerated(0.33) neutral(0.025) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin CHL1 10752 genome.wustl.edu 37 3 433434 433434 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006614.2 +1 reviewed p.K956N 0.971 270 0% 148 18.2% - - possibly_damaging(0.948) tolerated(0.5) neutral(0.401) HMMSmart_SM00060,superfamily_Fibronectin type III CNTN6 27255 genome.wustl.edu 37 3 1320144 1320144 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014461.2 +1 reviewed p.E136* 1.000 216 0% 162 22.8% - - - - - HMMSmart_IG,superfamily_SSF48726 CNTN6 27255 genome.wustl.edu 37 3 1339620 1339620 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014461.2 +1 reviewed p.T236A 0.978 495 0% 216 23.6% - - benign(0) deleterious(0.04) neutral(0.349) HMMPfam_I-set,superfamily_SSF48726 CNTN6 27255 genome.wustl.edu 37 3 1371559 1371559 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014461.2 +1 reviewed p.A435D 0.982 303 0% 194 27.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 CNTN6 27255 genome.wustl.edu 37 3 1414088 1414088 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014461.2 +1 reviewed p.F533C 0.988 451 0% 269 17.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 IL5RA 3568 genome.wustl.edu 37 3 3139847 3139847 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000564.3 -1 reviewed p.E165D 0.699 527 0% 455 29% - - benign(0.005) tolerated(0.53) neutral(0.007) HMMPfam_Haemat_rec_S_F2,PatternScan_HEMATOPO_REC_S_F2,superfamily_Fibronectin type III LRRN1 57633 genome.wustl.edu 37 3 3886911 3886911 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020873.5 +1 validated p.L196I 1.000 190 0% 139 25.2% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_SSF52058 LRRN1 57633 genome.wustl.edu 37 3 3887915 3887915 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020873.5 +1 validated p.Y530 0.564 103 0% 68 25% - - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like SETMAR 6419 genome.wustl.edu 37 3 4358564 4358564 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006515.3 +1 validated p.I563 0.942 58 0% 46 28.3% - - - - - HMMPfam_Transposase_1 SETMAR 6419 genome.wustl.edu 37 3 4358755 4358755 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006515.3 +1 validated p.F627C 0.818 261 0% 196 51.5% - - unknown(0) deleterious(0) - NULL ITPR1 3708 genome.wustl.edu 37 3 4732935 4732935 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099952.2 +1 reviewed p.H1303 0.906 343 0.3% 281 12.1% - - - - - HMMPfam_RYDR_ITPR ITPR1 3708 genome.wustl.edu 37 3 4741615 4741615 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099952.2 +1 reviewed p.T1500M 1.000 226 0% 211 28% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL ARL8B 55207 genome.wustl.edu 37 3 5216089 5216089 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018184.2 +1 validated p.K167N 1.000 303 0% 147 27.2% - - possibly_damaging(0.813) tolerated(0.3) neutral(0.336) HMMSmart_SM00173,HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases GRM7 2917 genome.wustl.edu 37 3 7188172 7188172 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181874.2 +1 reviewed p.E185K 1.000 199 0% 147 25.2% - - probably_damaging(0.999) tolerated(0.43) deleterious(0.504) HMMPfam_ANF_receptor,superfamily_SSF53822 GRM7 2917 genome.wustl.edu 37 3 7620681 7620681 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181874.2 +1 reviewed p.L696 0.996 428 0% 349 22.3% - - - - - HMMPfam_7tm_3 GRM7 2917 genome.wustl.edu 37 3 7721907 7721907 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181874.2 +1 reviewed p.R875G 0.691 95 0% 76 23.7% - - benign(0.013) tolerated(0.31) neutral(0.028) NULL SRGAP3 9901 genome.wustl.edu 37 3 9034622 9034622 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014850.2 -1 validated p.I842 0.963 161 0% 122 63.9% - - - - - superfamily_SH3-domain SRGAP3 9901 genome.wustl.edu 37 3 9094902 9094902 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014850.2 -1 validated p.K378E 1.000 143 0% 174 32.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SETD5 55209 genome.wustl.edu 37 3 9476086 9476086 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080517.1 +1 provisional p.P82 1.000 338 0% 199 52.8% - - - - - NULL SETD5 55209 genome.wustl.edu 37 3 9482160 9482160 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080517.1 +1 provisional p.Q196H 0.998 191 0% 131 78.6% - - benign(0) tolerated(0.16) neutral(0.059) NULL SETD5 55209 genome.wustl.edu 37 3 9483370 9483370 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080517.1 +1 provisional p.R302C 1.000 327 0% 268 53.7% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain SETD5 55209 genome.wustl.edu 37 3 9486866 9486866 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080517.1 +1 provisional p.R441H 1.000 479 0.2% 243 22.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SETD5 55209 genome.wustl.edu 37 3 9515081 9515081 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000399686 +1 known p.S787G 0.992 403 0% 311 54% - - - - - NULL BRPF1 7862 genome.wustl.edu 37 3 9785967 9785967 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001003694.1 +1 reviewed p.L899M 1.000 59 0% 31 29% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CAMK1 8536 genome.wustl.edu 37 3 9801418 9801418 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000421120 -1 known p.A101T 0.986 174 0% 146 21.2% - - - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TTLL3 26140 genome.wustl.edu 37 3 9857781 9857781 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000310252 +1 known p.P26T 0.127 128 0% 112 25% - - - - - NULL FANCD2 2177 genome.wustl.edu 37 3 10114940 10114940 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033084.3 +1 reviewed p.R870K 0.434 114 0% 43 44.2% - - benign(0) tolerated(1) - NULL FANCD2 2177 genome.wustl.edu 37 3 10136907 10136907 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033084.3 +1 reviewed p.E1329 1.000 163 0% 132 12.9% - - - - - NULL IRAK2 3656 genome.wustl.edu 37 3 10255195 10255195 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001570.3 +1 reviewed p.E251K 0.005 352 0% 248 33.1% - - benign(0.005) tolerated(1) - superfamily_Kinase_like,HMMPfam_Pkinase SEC13 6396 genome.wustl.edu 37 3 10346828 10346828 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_183352.1 -1 reviewed p.D199 0.855 360 0% 299 28.8% - - - - - superfamily_WD40_like SLC6A11 6538 genome.wustl.edu 37 3 10953795 10953795 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014229.1 +1 provisional p.T304 0.565 324 0% 248 52.4% - - - - - HMMPfam_SNF SLC6A1 6529 genome.wustl.edu 37 3 11058983 11058983 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003042.3 +1 validated p.T29I 1.000 93 0% 63 31.7% - - benign(0.189) deleterious(0) neutral(0.462) NULL ATG7 10533 genome.wustl.edu 37 3 11468338 11468338 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006395.2 +1 validated p.H673N 1.000 353 0% 220 54.1% - - possibly_damaging(0.513) tolerated(0.15) neutral(0.413) superfamily_Activating enzymes of the ubiquitin-like proteins SYN2 6854 genome.wustl.edu 37 3 12211364 12211364 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000426379 +1 known p.L431P 0.994 104 0% 91 33% - - unknown(0) - - NULL PPARG 5468 genome.wustl.edu 37 3 12447550 12447550 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015869.4 +1 reviewed p.A263 0.958 256 0% 158 28.5% - - - - - superfamily_Nuclear receptor ligand-binding domain PPARG 5468 genome.wustl.edu 37 3 12458305 12458305 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015869.4 +1 reviewed p.R308C 1.000 229 0% 176 53.4% - - benign(0.011) deleterious(0.01) neutral(0.406) superfamily_Nuclear receptor ligand-binding domain MKRN2 23609 genome.wustl.edu 37 3 12616467 12616467 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014160.3 +1 provisional p.Q273H 1.000 136 0% 122 59.8% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 RAF1 5894 genome.wustl.edu 37 3 12653551 12653551 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002880.3 -1 reviewed p.R73Q 1.000 175 0% 128 56.2% - - probably_damaging(0.964) tolerated(0.12) deleterious(0.667) HMMPfam_RBD,HMMSmart_SM00455,superfamily_Ubiquitin-like TMEM40 55287 genome.wustl.edu 37 3 12785480 12785480 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018306.2 -1 provisional p.D74Y 0.757 400 0% 349 50.1% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL TMEM40 55287 genome.wustl.edu 37 3 12791316 12791316 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018306.2 -1 provisional p.S6P 0.001 397 0.3% 302 48.3% - - benign(0.001) tolerated(0.25) neutral(0.037) NULL SNORA7A 619563 genome.wustl.edu 37 3 12881874 12881874 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_002582.1 -1 provisional NULL 0.201 32 0% 28 39.3% - - - - - - FBLN2 2199 genome.wustl.edu 37 3 13612869 13612869 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004019.1 +1 reviewed p.E338D 0.973 60 0% 60 33.3% - - possibly_damaging(0.556) deleterious(0) deleterious(0.634) NULL FBLN2 2199 genome.wustl.edu 37 3 13679117 13679117 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004019.1 +1 reviewed p.R1132C 0.984 48 0% 62 25.8% - - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL SLC6A6 6533 genome.wustl.edu 37 3 14489314 14489314 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134367.1 +1 validated p.E197K 1.000 108 0% 132 53% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SNF C3orf19 51244 genome.wustl.edu 37 3 14711446 14711446 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016474.4 +1 validated p.D320Y 0.998 65 0% 46 30.4% - - probably_damaging(0.991) tolerated(0.14) deleterious(0.694) NULL C3orf19 51244 genome.wustl.edu 37 3 14712402 14712402 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016474.4 +1 validated e11-1 1.000 49 0% 35 65.7% - - - - - - C3orf19 51244 genome.wustl.edu 37 3 14712425 14712425 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016474.4 +1 validated p.S376 0.983 71 0% 54 16.7% - - - - - NULL FGD5 152273 genome.wustl.edu 37 3 14960337 14960337 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152536.3 +1 validated p.A1189V 0.996 241 0% 204 17.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like NR2C2 7182 genome.wustl.edu 37 3 15062323 15062323 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003298.3 +1 validated p.K166T 1.000 334 0% 248 27.8% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain) ZFYVE20 64145 genome.wustl.edu 37 3 15116032 15116032 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022340.2 -1 validated p.R538W 0.168 129 0% 121 49.6% - - possibly_damaging(0.938) deleterious(0.03) deleterious(0.748) NULL ZFYVE20 64145 genome.wustl.edu 37 3 15116413 15116413 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022340.2 -1 validated p.L411F 0.601 38 0% 57 21.1% - - benign(0) tolerated(0.64) neutral(0.003) NULL ZFYVE20 64145 genome.wustl.edu 37 3 15126514 15126514 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022340.2 -1 validated p.K143N 1.000 299 0% 190 32.1% - - benign(0.185) tolerated(0.11) neutral(0.289) NULL ENSG00000221424 0 genome.wustl.edu 37 3 15175960 15175960 + RNA SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000408497 -1 novel NULL 0.040 319 0% 183 28.4% - - - - - - CAPN7 23473 genome.wustl.edu 37 3 15275477 15275477 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014296.2 +1 reviewed p.Q428R 1.000 255 0% 199 15.6% - - benign(0.033) tolerated(0.51) neutral(0.010) HMMPfam_Peptidase_C2,HMMSmart_CysPc,superfamily_SSF54001 METTL6 131965 genome.wustl.edu 37 3 15457066 15457066 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000383789 -1 known p.R186C 0.013 14 0% 27 55.6% - - possibly_damaging(0.535) - - NULL COLQ 8292 genome.wustl.edu 37 3 15507874 15507874 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005677.3 -1 reviewed p.P263L 0.859 54 0% 45 42.2% - - probably_damaging(0.989) - - HMMPfam_Collagen BTD 686 genome.wustl.edu 37 3 15685951 15685951 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000060.2 +1 reviewed p.T196 0.017 286 0% 189 27.5% - - - - - HMMPfam_CN_hydrolase,superfamily_Carbon-nitrogen hydrolase OXNAD1 92106 genome.wustl.edu 37 3 16343302 16343302 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138381.2 +1 validated p.K201T 0.000 295 0% 170 32.4% - - benign(0.002) tolerated(0.53) neutral(0.007) HMMPfam_NAD_binding_1,superfamily_SSF52343 PLCL2 23228 genome.wustl.edu 37 3 17051893 17051893 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015184.5 +1 validated p.S226* 1.000 53 0% 51 47.1% - - - - - HMMPfam_efhand_like,superfamily_SSF47473 TBC1D5 9779 genome.wustl.edu 37 3 17333441 17333441 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134381.1 -1 validated p.F397L 0.841 297 0% 181 17.1% - - benign(0) tolerated(0.71) neutral(0.002) superfamily_Ypt/Rab-GAP domain of gyp1p TBC1D5 9779 genome.wustl.edu 37 3 17333465 17333465 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134381.1 -1 validated p.L389 0.539 267 0% 162 33.3% - - - - - superfamily_Ypt/Rab-GAP domain of gyp1p SATB1 6304 genome.wustl.edu 37 3 18428048 18428048 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001131010.1 -1 validated p.S421Y 1.000 257 0% 218 54.6% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_CUT SATB1 6304 genome.wustl.edu 37 3 18458517 18458517 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001131010.1 -1 validated p.Y89D 0.996 223 0% 158 36.1% - - benign(0.01) tolerated(0.18) neutral(0.057) NULL KCNH8 131096 genome.wustl.edu 37 3 19295273 19295273 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144633.2 +1 reviewed p.K68 1.000 360 0% 270 14.1% - - - - - HMMPfam_PAS,superfamily_SSF55785 EFHB 151651 genome.wustl.edu 37 3 19929950 19929950 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144715.3 -1 validated p.R640K 0.806 130 0% 82 23.2% - - benign(0.005) tolerated(0.41) neutral(0.015) superfamily_EF-hand EFHB 151651 genome.wustl.edu 37 3 19940961 19940961 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144715.3 -1 validated p.E489* 1.000 304 0% 152 44.7% - - - - - NULL SGOL1 151648 genome.wustl.edu 37 3 20216354 20216354 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012410.2 -1 provisional p.F223 0.000 372 0.3% 241 12.9% - - - - - NULL SGOL1 151648 genome.wustl.edu 37 3 20225490 20225490 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012410.2 -1 provisional p.S10 0.992 195 0% 160 28.1% - - - - - NULL RARB 5915 genome.wustl.edu 37 3 25542761 25542761 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000965.3 +1 reviewed p.R132Q 1.000 278 0% 214 29% - - benign(0.28) tolerated(0.77) neutral(0.087) HMMPfam_zf-C4,HMMSmart_ZnF_C4,superfamily_Str_ncl_receptor,superfamily_SSF57716 TOP2B 7155 genome.wustl.edu 37 3 25668686 25668686 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001068.2 -1 reviewed p.I665V 1.000 178 0% 111 27.9% - - probably_damaging(0.993) tolerated(0.05) deleterious(0.795) HMMSmart_TOP2c,superfamily_Topo_IIA_cen NEK10 152110 genome.wustl.edu 37 3 27183033 27183033 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000396636 -1 known p.Q1027H 1.000 301 0% 216 56% - - probably_damaging(0.961) deleterious(0) deleterious(0.849) NULL NEK10 152110 genome.wustl.edu 37 3 27203958 27203958 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000396636 -1 known p.D1002Y 1.000 118 0% 109 22.9% - - benign(0.085) deleterious(0.01) neutral(0.412) NULL NEK10 152110 genome.wustl.edu 37 3 27387666 27387666 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199347.2 -1 validated p.T58 0.992 203 0% 157 21.7% - - - - - NULL AZI2 64343 genome.wustl.edu 37 3 28382090 28382090 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022461.3 -1 validated p.D7N 1.000 214 0% 168 20.8% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL STT3B 201595 genome.wustl.edu 37 3 31666477 31666477 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178862.1 +1 provisional p.R600Q 1.000 442 0% 254 49.6% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_STT3 STT3B 201595 genome.wustl.edu 37 3 31667621 31667621 + Splice_Site SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178862.1 +1 provisional e13+2 1.000 340 0% 256 17.6% - - - - - - OSBPL10 114884 genome.wustl.edu 37 3 31725315 31725315 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017784.4 -1 reviewed p.E513K 0.001 251 0% 224 25.4% - - benign(0.122) tolerated(0.28) neutral(0.042) HMMPfam_Oxysterol_BP GPD1L 23171 genome.wustl.edu 37 3 32188173 32188173 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015141.3 +1 validated p.R189* 1.000 284 0% 244 17.2% - - - - - superfamily_NAD(P)-bd GPD1L 23171 genome.wustl.edu 37 3 32207308 32207308 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015141.3 +1 validated p.F321Y 1.000 610 0% 455 25.3% - - benign(0.042) tolerated(0.21) neutral(0.046) HMMPfam_NAD_Gly3P_dh_C,superfamily_6DGDH_C_like CLASP2 23122 genome.wustl.edu 37 3 33592749 33592749 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015097.1 -1 validated p.R1050W 1.000 191 0% 152 23% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat CLASP2 23122 genome.wustl.edu 37 3 33614616 33614616 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015097.1 -1 validated p.N895 1.000 238 0% 189 23.3% - - - - - superfamily_ARM repeat ARPP21 10777 genome.wustl.edu 37 3 35724377 35724377 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016300.4 +1 validated p.S56F 1.000 433 0% 198 51% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ARPP21 10777 genome.wustl.edu 37 3 35729248 35729248 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016300.4 +1 validated p.Q93 1.000 145 0% 55 23.6% - - - - - NULL ARPP21 10777 genome.wustl.edu 37 3 35756935 35756935 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016300.4 +1 validated p.V301A 1.000 541 0% 315 22.9% - - benign(0.176) tolerated(0.42) neutral(0.030) NULL ENSG00000172995 0 genome.wustl.edu 37 3 35763221 35763221 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000425289 +1 known p.S146F 1.000 65 0% 64 43.8% - - - - - NULL DCLK3 85443 genome.wustl.edu 37 3 36779158 36779158 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033403.1 -1 validated p.E331D 0.000 153 0% 171 25.1% - - benign(0.091) tolerated(0.12) neutral(0.267) superfamily_Kinase_like DCLK3 85443 genome.wustl.edu 37 3 36779875 36779875 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033403.1 -1 validated p.Q92H 0.999 293 0% 246 23.6% - - benign(0.422) deleterious(0) deleterious(0.582) NULL TRANK1 9881 genome.wustl.edu 37 3 36872841 36872841 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014831.2 -1 provisional p.E2151K 0.002 198 0% 171 26.3% - - possibly_damaging(0.49) deleterious(0.02) deleterious(0.546) NULL TRANK1 9881 genome.wustl.edu 37 3 36898545 36898545 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014831.2 -1 provisional p.E296K 1.000 94 0% 102 10.8% - - possibly_damaging(0.722) tolerated(0.09) deleterious(0.558) NULL TRANK1 9881 genome.wustl.edu 37 3 36899238 36899238 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014831.2 -1 provisional p.D65Y 1.000 155 0% 159 11.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRANK1 9881 genome.wustl.edu 37 3 36940651 36940651 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000429976 -1 known p.D77Y 0.578 126 0% 76 19.7% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL EPM2AIP1 9852 genome.wustl.edu 37 3 37032768 37032768 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014805.3 -1 reviewed p.E601K 1.000 151 0% 100 27% - - benign(0.002) tolerated(0.48) neutral(0.011) NULL MLH1 4292 genome.wustl.edu 37 3 37055968 37055968 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000249.3 +1 reviewed p.K241N 1.000 171 0% 106 47.2% - - benign(0.203) tolerated(0.13) neutral(0.272) HMMPfam_DNA_mis_repair,superfamily_Ribosomal_S5_D2-typ_fold GOLGA4 2803 genome.wustl.edu 37 3 37323570 37323570 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002078.4 +1 reviewed p.R95Q 1.000 189 0% 164 25.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GOLGA4 2803 genome.wustl.edu 37 3 37337597 37337597 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002078.4 +1 reviewed p.R234Q 0.992 263 0% 170 53.5% - - probably_damaging(1) tolerated(0.08) deleterious(0.800) superfamily_Prefoldin GOLGA4 2803 genome.wustl.edu 37 3 37363258 37363258 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002078.4 +1 reviewed p.E528* 1.000 254 0% 192 32.3% - - - - - NULL ITGA9 3680 genome.wustl.edu 37 3 37818990 37818990 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002207.2 +1 reviewed p.K883 1.000 605 0% 338 48.5% - - - - - HMMPfam_Integrin_alpha2,superfamily_SSF69179 CTDSPL 10217 genome.wustl.edu 37 3 38009355 38009355 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000416688 +1 known p.R45* 0.988 304 0% 246 54.9% - - - - - HMMPfam_NIF,superfamily_HAD-like PLCD1 5333 genome.wustl.edu 37 3 38065845 38065845 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130964.1 -1 validated p.L27R 1.000 30 0% 30 26.7% - - possibly_damaging(0.7) tolerated(0.21) neutral(0.295) NULL DLEC1 9940 genome.wustl.edu 37 3 38087072 38087072 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007337.2 +1 reviewed p.E150D 0.006 139 0% 128 28.1% - - benign(0.006) tolerated(0.71) neutral(0.002) NULL DLEC1 9940 genome.wustl.edu 37 3 38139080 38139080 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007337.2 +1 reviewed p.I839 0.395 158 0% 125 11.2% - - - - - NULL ACAA1 30 genome.wustl.edu 37 3 38167343 38167343 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001607.3 -1 reviewed p.E343K 1.000 129 0% 97 30.9% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Thiolase_C,superfamily_Thiolase-like SCN5A 6331 genome.wustl.edu 37 3 38592883 38592883 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099404.1 -1 reviewed p.I1660 1.000 433 0% 282 52.5% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN5A 6331 genome.wustl.edu 37 3 38597183 38597183 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099404.1 -1 reviewed p.G1502 0.989 457 0.2% 369 26.6% - - - - - NULL SCN5A 6331 genome.wustl.edu 37 3 38601709 38601709 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099404.1 -1 reviewed p.E1392* 0.744 332 0% 240 53.3% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN5A 6331 genome.wustl.edu 37 3 38645496 38645496 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099404.1 -1 reviewed p.R533C 1.000 138 0% 130 22.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SCN11A 11280 genome.wustl.edu 37 3 38888791 38888791 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014139.2 -1 validated p.I1590 0.995 353 0% 238 10.5% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels GORASP1 64689 genome.wustl.edu 37 3 39139804 39139804 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031899.2 -1 reviewed p.A416T 0.083 108 0% 93 19.4% - - possibly_damaging(0.86) deleterious(0) deleterious(0.777) NULL CSRNP1 64651 genome.wustl.edu 37 3 39186531 39186531 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033027.3 -1 reviewed p.R141H 0.513 95 2.1% 87 44.8% - - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL XIRP1 165904 genome.wustl.edu 37 3 39225637 39225637 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194293.2 -1 provisional p.T1767I 0.032 391 0% 388 53.6% - - probably_damaging(0.977) deleterious(0.04) deleterious(0.768) NULL XIRP1 165904 genome.wustl.edu 37 3 39230600 39230600 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194293.2 -1 provisional p.A113T 0.044 63 0% 76 44.7% - - benign(0.174) tolerated(0.38) neutral(0.034) NULL CX3CR1 1524 genome.wustl.edu 37 3 39307326 39307326 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001337.3 -1 reviewed p.K225N 0.997 214 0% 179 54.2% - - probably_damaging(0.996) tolerated(0.16) deleterious(0.521) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CCR8 1237 genome.wustl.edu 37 3 39374678 39374678 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005201.3 +1 reviewed p.E286* 0.030 254 0% 230 13.9% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MYRIP 25924 genome.wustl.edu 37 3 40231856 40231856 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015460.2 +1 validated p.R523W 0.060 48 0% 43 44.2% - - benign(0.003) deleterious(0) neutral(0.445) NULL EIF1B 10289 genome.wustl.edu 37 3 40352547 40352547 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005875.2 +1 validated p.K65N 1.000 126 0% 61 31.1% - - possibly_damaging(0.908) deleterious(0) deleterious(0.806) HMMPfam_SUI1,superfamily_eIF1-like ENTPD3 956 genome.wustl.edu 37 3 40453313 40453313 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001248.2 +1 validated p.I99 1.000 181 0% 147 28.6% - - - - - HMMPfam_GDA1_CD39 ZNF619 285267 genome.wustl.edu 37 3 40529864 40529864 + RNA SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_026746.2 +1 validated NULL 0.009 38 0% 40 30% - - - - - - CTNNB1 1499 genome.wustl.edu 37 3 41277268 41277268 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098209.1 +1 reviewed p.I579 1.000 295 0% 254 13.8% - - - - - HMMSmart_SM00185,superfamily_ARM repeat ULK4 54986 genome.wustl.edu 37 3 41959986 41959986 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017886.2 -1 validated p.K230N 1.000 147 0% 104 59.6% - - benign(0.006) tolerated(0.37) neutral(0.019) superfamily_Kinase_like,HMMPfam_Pkinase ULK4 54986 genome.wustl.edu 37 3 41961287 41961287 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017886.2 -1 validated p.E189* 1.000 209 0% 130 46.2% - - - - - superfamily_Kinase_like,HMMPfam_Pkinase TRAK1 22906 genome.wustl.edu 37 3 42242381 42242381 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042646.1 +1 validated p.S421Y 0.986 192 0% 153 28.1% - - probably_damaging(0.989) deleterious(0.05) deleterious(0.785) NULL VIPR1 7433 genome.wustl.edu 37 3 42576569 42576569 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004624.3 +1 validated p.V371 1.000 427 0% 307 53.1% - - - - - HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like NKTR 4820 genome.wustl.edu 37 3 42679208 42679208 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005385.3 +1 reviewed p.S671L 0.963 194 0% 99 17.2% - - unknown(0) deleterious(0) - NULL NKTR 4820 genome.wustl.edu 37 3 42679747 42679747 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005385.3 +1 reviewed p.R851W 0.023 111 0% 44 47.7% - - unknown(0) tolerated(1) - NULL NKTR 4820 genome.wustl.edu 37 3 42681013 42681013 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005385.3 +1 reviewed p.R1273W 0.996 215 0% 131 22.1% - - unknown(0) deleterious(0) - NULL HHATL 57467 genome.wustl.edu 37 3 42735116 42735116 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020707.3 -1 validated p.R414Q 0.001 186 0% 138 15.2% - - benign(0.001) tolerated(0.64) neutral(0.003) HMMPfam_MBOAT HHATL 57467 genome.wustl.edu 37 3 42739081 42739081 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020707.3 -1 validated p.D262N 1.000 153 0% 125 14.4% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_MBOAT HHATL 57467 genome.wustl.edu 37 3 42740545 42740545 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020707.3 -1 validated p.L89 1.000 144 0% 93 31.2% - - - - - NULL HHATL 57467 genome.wustl.edu 37 3 42742307 42742307 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020707.3 -1 validated p.K4N 1.000 35 0% 29 13.8% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CYP8B1 1582 genome.wustl.edu 37 3 42916580 42916580 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004391.2 -1 reviewed p.S243 0.000 17 0% 25 72% - - - - - superfamily_Cytochrome P450 ZNF662 389114 genome.wustl.edu 37 3 42956031 42956031 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134656.1 +1 validated p.E182* 0.001 369 0% 181 55.2% - - - - - NULL C3orf39 84892 genome.wustl.edu 37 3 43122630 43122630 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032806.4 -1 provisional p.G98 1.000 81 0% 69 31.9% - - - - - NULL ANO10 55129 genome.wustl.edu 37 3 43596803 43596803 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018075.3 -1 validated p.F545L 0.922 292 0% 181 23.8% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_DUF590 ABHD5 51099 genome.wustl.edu 37 3 43759941 43759941 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016006.4 +1 reviewed p.L323I 1.000 328 0% 217 53.5% - - benign(0.024) deleterious(0.02) neutral(0.384) HMMPfam_Abhydrolase_1,superfamily_SSF53474 C3orf77 375337 genome.wustl.edu 37 3 44284851 44284851 + Nonsense_Mutation SNP G G T rs181167027 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145030.1 +1 validated p.E285* 0.949 123 0% 73 52.1% - - - - - NULL C3orf77 375337 genome.wustl.edu 37 3 44303950 44303950 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145030.1 +1 validated p.E999* 1.000 121 0.8% 89 27% - - - - - NULL C3orf77 375337 genome.wustl.edu 37 3 44308575 44308575 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145030.1 +1 validated p.P1036H 0.005 273 0% 132 28% - - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL C3orf77 375337 genome.wustl.edu 37 3 44351337 44351337 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145030.1 +1 validated p.K1387 0.963 240 0% 137 24.8% - - - - - NULL C3orf77 375337 genome.wustl.edu 37 3 44369851 44369851 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145030.1 +1 validated p.I1595 1.000 216 0% 152 22.4% - - - - - NULL C3orf77 375337 genome.wustl.edu 37 3 44373458 44373458 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145030.1 +1 validated p.E1678D 1.000 368 0% 238 24.4% - - possibly_damaging(0.891) tolerated(0.13) deleterious(0.603) NULL ZNF445 353274 genome.wustl.edu 37 3 44489291 44489291 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181489.5 -1 validated p.P624 0.318 129 0% 126 57.1% - - - - - superfamily_SSF57667 ZNF445 353274 genome.wustl.edu 37 3 44489522 44489522 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181489.5 -1 validated p.E547D 1.000 149 0% 132 59.8% - - benign(0) tolerated(0.51) neutral(0.009) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF445 353274 genome.wustl.edu 37 3 44490061 44490061 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181489.5 -1 validated p.P368S 0.000 170 0% 149 27.5% - - benign(0.001) tolerated(1) - NULL ZNF852 285346 genome.wustl.edu 37 3 44541754 44541754 + Missense_Mutation SNP G G A rs189732117 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000436261 -1 known p.S172L 0.862 79 0% 78 15.4% - - probably_damaging(0.996) tolerated(0.06) deleterious(0.784) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF852 285346 genome.wustl.edu 37 3 44541791 44541791 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000436261 -1 known p.R160* 0.009 77 0% 69 63.8% - - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF197 10168 genome.wustl.edu 37 3 44672589 44672589 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006991.3 +1 reviewed p.Q142H 0.078 171 0% 145 12.4% - - possibly_damaging(0.884) tolerated(0.26) neutral(0.379) HMMSmart_SM00431 ZNF35 7584 genome.wustl.edu 37 3 44701168 44701168 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003420.3 +1 validated p.R438I 1.000 197 0% 205 36.1% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF502 91392 genome.wustl.edu 37 3 44762977 44762977 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134440.1 +1 validated p.R223Q 0.000 156 0% 164 29.3% - - benign(0.002) tolerated(0.49) neutral(0.011) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 KIF15 56992 genome.wustl.edu 37 3 44844408 44844408 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020242.2 +1 validated p.E538* 0.998 237 0.4% 131 48.9% - - - - - NULL CDCP1 64866 genome.wustl.edu 37 3 45153728 45153728 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022842.3 -1 reviewed p.D168N 0.025 164 0% 166 56.6% - - benign(0.024) tolerated(0.6) neutral(0.005) NULL LARS2 23395 genome.wustl.edu 37 3 45530260 45530260 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015340.3 +1 reviewed p.E399* 1.000 179 0% 138 21.7% - - - - - superfamily_ValRS_IleRS_edit,superfamily_SSF52374 SLC6A20 54716 genome.wustl.edu 37 3 45812900 45812900 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020208.3 -1 reviewed p.I248 1.000 359 0% 305 49.8% - - - - - HMMPfam_SNF CCR9 10803 genome.wustl.edu 37 3 45942328 45942328 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031200.1 +1 reviewed p.D16E 0.003 156 0% 126 27.8% - - unknown(0) - - superfamily_Family A G protein-coupled receptor-like FYCO1 79443 genome.wustl.edu 37 3 45965194 45965194 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024513.2 -1 validated p.R1439C 0.986 458 0.2% 319 22.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Supernatant protein factor (SPF) C-terminal domain FYCO1 79443 genome.wustl.edu 37 3 46003869 46003869 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024513.2 -1 validated p.L1095 0.000 650 0% 426 26.1% - - - - - NULL FYCO1 79443 genome.wustl.edu 37 3 46023093 46023093 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024513.2 -1 validated p.K44T 1.000 367 0% 289 34.3% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL CCR3 1232 genome.wustl.edu 37 3 46307175 46307175 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001837.3 +1 reviewed p.E176* 0.000 201 0% 198 57.6% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 LTF 4057 genome.wustl.edu 37 3 46497462 46497462 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002343.2 -1 reviewed p.R108Q 0.007 97 0% 121 52.9% - - benign(0.007) tolerated(1) - HMMPfam_Transferrin,HMMSmart_TR_FER,superfamily_SSF53850 TDGF1 6997 genome.wustl.edu 37 3 46620615 46620615 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003212.3 +1 reviewed p.V22 0.000 750 0% 500 32.2% - - - - - NULL PRSS42 339906 genome.wustl.edu 37 3 46873503 46873503 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182702.1 -1 provisional p.L219F 0.877 291 0% 260 26.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys NBEAL2 23218 genome.wustl.edu 37 3 47040542 47040542 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015175.1 +1 validated p.E1160K 0.983 69 0% 98 26.5% - - possibly_damaging(0.664) deleterious(0.01) deleterious(0.641) NULL SETD2 29072 genome.wustl.edu 37 3 47098428 47098428 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014159.6 -1 reviewed p.V2282 0.981 204 0% 201 19.4% - - - - - NULL SETD2 29072 genome.wustl.edu 37 3 47162400 47162400 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014159.6 -1 reviewed p.E1242D 0.049 127 0% 85 49.4% - - benign(0) tolerated(1) - NULL SETD2 29072 genome.wustl.edu 37 3 47164831 47164831 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014159.6 -1 reviewed p.R432H 1.000 218 0% 196 49% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIF9 64147 genome.wustl.edu 37 3 47282434 47282434 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134878.1 -1 validated p.R594Q 1.000 356 0% 221 23.5% - - probably_damaging(0.969) tolerated(0.43) neutral(0.425) NULL CSPG5 10675 genome.wustl.edu 37 3 47604225 47604225 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006574.3 -1 validated p.I495 1.000 165 0% 130 20.8% - - - - - HMMPfam_Neural_ProG_Cyt CSPG5 10675 genome.wustl.edu 37 3 47618378 47618378 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006574.3 -1 validated p.Y380H 1.000 54 0% 50 26% - - benign(0.025) deleterious(0) neutral(0.446) HMMSmart_EGF SMARCC1 6599 genome.wustl.edu 37 3 47703966 47703966 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003074.3 -1 validated p.E672D 1.000 195 0% 158 15.2% - - possibly_damaging(0.919) tolerated(0.15) deleterious(0.611) NULL SMARCC1 6599 genome.wustl.edu 37 3 47718130 47718130 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003074.3 -1 validated p.R572* 1.000 136 0% 89 52.8% - - - - - NULL SMARCC1 6599 genome.wustl.edu 37 3 47734776 47734776 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003074.3 -1 validated p.D394Y 1.000 229 0% 192 27.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SMARCC1 6599 genome.wustl.edu 37 3 47777531 47777531 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003074.3 -1 validated p.R190Q 1.000 440 0% 283 54.4% - - probably_damaging(0.993) deleterious(0.02) deleterious(0.833) superfamily_BRCT DHX30 22907 genome.wustl.edu 37 3 47888799 47888799 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138615.2 +1 reviewed p.T656A 0.995 195 0.5% 200 30% - - benign(0.006) tolerated(1) - superfamily_P-loop containing nucleoside triphosphate hydrolases MAP4 4134 genome.wustl.edu 37 3 48040229 48040229 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002375.4 -1 reviewed p.T41I 1.000 418 0% 301 50.2% - - unknown(0) deleterious(0) - NULL CDC25A 993 genome.wustl.edu 37 3 48200536 48200536 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001789.2 -1 reviewed p.E492K 0.999 204 0% 187 29.4% - - benign(0.062) deleterious(0.01) neutral(0.410) superfamily_Rhodanese/Cell cycle control phosphatase CDC25A 993 genome.wustl.edu 37 3 48205857 48205857 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001789.2 -1 reviewed p.D421G 0.814 220 0% 197 50.8% - - benign(0) tolerated(0.26) neutral(0.034) HMMPfam_Rhodanese,HMMSmart_SM00450,superfamily_Rhodanese/Cell cycle control phosphatase PLXNB1 5364 genome.wustl.edu 37 3 48456734 48456734 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130082.1 -1 validated p.R1273C 0.058 76 0% 57 22.8% - - benign(0.001) tolerated(0.2) neutral(0.049) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains CELSR3 1951 genome.wustl.edu 37 3 48696466 48696466 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001407.2 -1 reviewed p.D1201G 1.000 251 0% 225 22.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CELSR3 1951 genome.wustl.edu 37 3 48696750 48696750 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001407.2 -1 reviewed p.I1106 0.008 169 0% 157 51% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CELSR3 1951 genome.wustl.edu 37 3 48696753 48696753 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001407.2 -1 reviewed p.Q1105H 1.000 163 0% 153 19.6% - - probably_damaging(0.999) tolerated(0.42) deleterious(0.504) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like IP6K2 51447 genome.wustl.edu 37 3 48732631 48732631 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005909.1 -1 reviewed p.V32M 1.000 139 0% 146 21.2% - - probably_damaging(0.999) tolerated(0.43) deleterious(0.504) superfamily_SAICAR synthase-like WDR6 11180 genome.wustl.edu 37 3 49050375 49050375 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018031.3 +1 reviewed p.A500T 0.003 120 0% 127 25.2% - - benign(0.126) tolerated(0.57) neutral(0.017) superfamily_WD40 repeat-like WDR6 11180 genome.wustl.edu 37 3 49050798 49050798 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018031.3 +1 reviewed p.R641* 1.000 115 0% 123 53.7% - - - - - superfamily_WD40 repeat-like IMPDH2 3615 genome.wustl.edu 37 3 49065166 49065166 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000884.2 -1 reviewed p.E170* 1.000 105 0% 63 36.5% - - - - - HMMPfam_CBS,HMMPfam_IMPDH,superfamily_SSF51412 QARS 5859 genome.wustl.edu 37 3 49137517 49137517 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005051.1 -1 reviewed p.R391H 0.999 270 0% 258 28.7% - - possibly_damaging(0.945) deleterious(0.01) deleterious(0.795) HMMPfam_tRNA-synt_1c,superfamily_SSF52374 LAMB2 3913 genome.wustl.edu 37 3 49160170 49160170 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002292.3 -1 reviewed p.E1514* 1.000 151 0% 125 52% - - - - - NULL LAMB2 3913 genome.wustl.edu 37 3 49167814 49167814 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002292.3 -1 reviewed p.D359N 1.000 132 0% 113 60.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196 KLHDC8B 200942 genome.wustl.edu 37 3 49211826 49211826 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173546.1 +1 provisional p.I177 1.000 97 0% 79 26.6% - - - - - HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central CCDC36 339834 genome.wustl.edu 37 3 49292916 49292916 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135197.1 +1 validated p.R209I 0.000 342 0.3% 237 49.8% - - possibly_damaging(0.861) tolerated(0.13) deleterious(0.586) NULL CCDC36 339834 genome.wustl.edu 37 3 49293879 49293879 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135197.1 +1 validated p.E317* 0.000 72 0% 80 58.8% - - - - - NULL USP4 7375 genome.wustl.edu 37 3 49316319 49316319 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003363.3 -1 validated p.K887N 1.000 390 0.3% 302 48.3% - - probably_damaging(0.968) deleterious(0.03) deleterious(0.774) HMMPfam_UCH,superfamily_Cysteine proteinases MST1 4485 genome.wustl.edu 37 3 49722069 49722069 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020998.3 -1 reviewed p.R597H 0.982 208 0% 148 56.1% - - benign(0.014) tolerated(0.84) neutral(0.001) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases UBA7 7318 genome.wustl.edu 37 3 49847768 49847768 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003335.2 -1 reviewed p.E521K 1.000 97 0% 109 29.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ThiF,superfamily_MoeB UBA7 7318 genome.wustl.edu 37 3 49851200 49851200 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003335.2 -1 reviewed p.S7 0.000 203 0% 143 18.9% - - - - - NULL MST1R 4486 genome.wustl.edu 37 3 49940302 49940302 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002447.2 -1 validated p.I247 0.257 38 0% 54 27.8% - - - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain RBM6 10180 genome.wustl.edu 37 3 50005283 50005283 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005777.2 +1 validated p.S142Y 0.169 254 0% 159 34% - - benign(0.347) deleterious(0.01) deleterious(0.516) NULL SEMA3F 6405 genome.wustl.edu 37 3 50211681 50211681 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004186.3 +1 validated p.F118 1.000 98 0% 95 29.5% - - - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema SLC38A3 10991 genome.wustl.edu 37 3 50257397 50257397 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006841.4 +1 validated p.R464I 0.013 498 0% 456 21.3% - - - - - HMMPfam_Aa_trans SEMA3B 7869 genome.wustl.edu 37 3 50311372 50311372 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004636.2 +1 reviewed p.A340 0.843 69 0% 60 50% - - benign(0.008) tolerated(0.14) neutral(0.249) NULL ZMYND10 51364 genome.wustl.edu 37 3 50379568 50379568 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015896.2 -1 validated p.R293W 1.000 223 0% 186 29% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NPRL2 10641 genome.wustl.edu 37 3 50386911 50386911 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006545.4 -1 validated p.F118 0.997 156 0% 146 55.5% - - - - - HMMPfam_NPR2 C3orf18 51161 genome.wustl.edu 37 3 50599193 50599193 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000422619 -1 known p.L22I 0.195 234 0% 166 54.2% - - unknown(0) tolerated(0.13) - NULL DOCK3 1795 genome.wustl.edu 37 3 51387782 51387782 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004947.3 +1 validated p.R1356W 0.998 466 0% 304 12.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL VPRBP 9730 genome.wustl.edu 37 3 51450502 51450502 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014703.2 -1 validated p.R1299Q 1.000 400 0% 314 13.7% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) superfamily_WD40 repeat-like ABHD14B 84836 genome.wustl.edu 37 3 52003622 52003622 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032750.2 -1 validated e3-1 1.000 56 0% 53 18.9% - - - - - - ACY1 95 genome.wustl.edu 37 3 52021404 52021404 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000666.1 +1 reviewed p.N263D 1.000 107 0% 129 47.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M20,HMMPfam_M20_dimer,superfamily_Peptidase_M20_dimer,superfamily_SSF53187 TWF2 11344 genome.wustl.edu 37 3 52269097 52269097 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007284.3 -1 reviewed p.F17 1.000 266 0% 220 53.6% - - - - - HMMPfam_Cofilin_ADF,HMMSmart_ADF,superfamily_SSF55753 PPM1M 132160 genome.wustl.edu 37 3 52282671 52282671 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000457454 +1 known p.R206K 0.997 190 0% 158 48.1% - - - - - superfamily_Protein serine/threonine phosphatase 2C catalytic domain WDR82 80335 genome.wustl.edu 37 3 52300974 52300974 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025222.3 -1 validated p.S107I 1.000 492 0% 340 29.1% - - benign(0.004) tolerated(0.21) neutral(0.044) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 GLYCTK 132158 genome.wustl.edu 37 3 52324415 52324415 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145262.3 +1 reviewed p.L19 0.003 9 0.000 15 0.333 - - - - - NULL DNAH1 25981 genome.wustl.edu 37 3 52402832 52402832 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015512.4 +1 validated p.F1947 0.968 115 0% 140 53.6% - - - - - HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH1 25981 genome.wustl.edu 37 3 52428588 52428588 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015512.4 +1 validated p.S3578 0.116 276 0% 242 24% - - - - - HMMPfam_Dynein_heavy SEMA3G 56920 genome.wustl.edu 37 3 52469820 52469820 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020163.1 -1 provisional p.F716 0.001 89 1.1% 122 29.5% - - - - - NULL NISCH 11188 genome.wustl.edu 37 3 52522122 52522122 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007184.3 +1 validated p.A872T 0.825 40 0% 42 19% - - benign(0.009) deleterious(0) neutral(0.445) NULL GNL3 26354 genome.wustl.edu 37 3 52727694 52727694 + Silent SNP C C T rs181190077 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014366.4 +1 validated p.S457 0.000 449 0% 365 56.7% - - - - - NULL ITIH3 3699 genome.wustl.edu 37 3 52831908 52831908 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002217.3 +1 validated p.L209M 0.997 261 0% 218 50% - - benign(0.014) tolerated(0.16) neutral(0.060) NULL ITIH4 3700 genome.wustl.edu 37 3 52850966 52850966 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002218.4 -1 reviewed p.V802A 0.179 145 0% 163 57.7% - - possibly_damaging(0.61) tolerated(0.08) deleterious(0.511) HMMPfam_ITI_HC_C PRKCD 5580 genome.wustl.edu 37 3 53213770 53213770 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006254.3 +1 reviewed p.N98T 1.000 98 0% 104 27.9% - - benign(0.029) tolerated(0.18) neutral(0.058) HMMSmart_C2,superfamily_C2_CaLB TKT 7086 genome.wustl.edu 37 3 53259823 53259823 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001064.2 -1 validated p.I607 0.847 173 0% 153 31.4% - - - - - HMMPfam_Transketolase_C,superfamily_TK C-terminal domain-like TKT 7086 genome.wustl.edu 37 3 53269001 53269001 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001064.2 -1 validated p.F209 0.970 74 0% 70 44.3% - - - - - HMMPfam_Transketolase_N,superfamily_Thiamin diphosphate-binding fold (THDP-binding) CACNA1D 776 genome.wustl.edu 37 3 53779689 53779689 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000720.2 +1 validated p.I1035 0.890 400 0% 326 46.3% - - - - - HMMPfam_Ion_trans,superfamily_SSF81324 CACNA1D 776 genome.wustl.edu 37 3 53781413 53781413 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000720.2 +1 validated p.F1104 0.971 330 0% 244 12.7% - - - - - HMMPfam_Ion_trans,superfamily_SSF81324 CACNA1D 776 genome.wustl.edu 37 3 53783313 53783313 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000720.2 +1 validated p.I1131 0.852 343 0% 277 53.1% - - - - - HMMPfam_Ion_trans,superfamily_SSF81324 CACNA1D 776 genome.wustl.edu 37 3 53810928 53810928 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000720.2 +1 validated p.R1531H 0.992 300 0% 268 51.5% - - probably_damaging(1) tolerated(0.19) deleterious(0.549) NULL CACNA1D 776 genome.wustl.edu 37 3 53844173 53844173 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000720.2 +1 validated p.G2034S 0.999 71 0% 65 13.8% - - benign(0.007) tolerated(0.95) - NULL CHDH 55349 genome.wustl.edu 37 3 53855757 53855757 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018397.3 -1 validated p.S301Y 1.000 107 0% 99 20.2% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_GMC_oxred_N,PatternScan_GMC_OXRED_2,superfamily_SSF51905 ACTR8 93973 genome.wustl.edu 37 3 53911280 53911280 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000486794 -1 known p.R14Q 0.655 214 0% 148 25.7% - - - - - HMMSmart_SM00268,superfamily_Actin-like ATPase domain CACNA2D3 55799 genome.wustl.edu 37 3 54604067 54604067 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018398.2 +1 reviewed p.A275V 1.000 336 0.3% 350 14.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like CACNA2D3 55799 genome.wustl.edu 37 3 54919572 54919572 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018398.2 +1 reviewed p.A672V 1.000 389 0% 351 25.6% - - probably_damaging(1) tolerated(0.41) deleterious(0.515) NULL ERC2 26059 genome.wustl.edu 37 3 56026216 56026216 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000492584 -1 known p.S359L 0.542 368 0% 300 26.7% - - - - - HMMPfam_Cast ERC2 26059 genome.wustl.edu 37 3 56041273 56041273 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015576.1 -1 validated p.S666Y 1.000 592 0% 384 20.3% - - possibly_damaging(0.905) deleterious(0.03) deleterious(0.724) HMMPfam_Cast ERC2 26059 genome.wustl.edu 37 3 56468429 56468429 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015576.1 -1 validated p.R203W 0.998 243 0% 179 17.9% - - benign(0.083) deleterious(0) neutral(0.451) HMMPfam_Cast CCDC66 285331 genome.wustl.edu 37 3 56653471 56653471 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001141947.1 +1 validated p.R851* 0.994 172 0% 146 24.7% - - - - - NULL FAM208A 23272 genome.wustl.edu 37 3 56658514 56658514 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001112736.1 -1 validated p.S1492 0.016 404 0% 264 51.9% - - - - - NULL FAM208A 23272 genome.wustl.edu 37 3 56705702 56705702 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001112736.1 -1 validated p.E166K 1.000 320 0% 233 14.2% - - possibly_damaging(0.942) deleterious(0.05) deleterious(0.732) NULL ARHGEF3 50650 genome.wustl.edu 37 3 56763546 56763546 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128615.1 -1 reviewed p.R477C 1.000 361 0% 346 74.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 IL17RD 54756 genome.wustl.edu 37 3 57139957 57139957 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017563.3 -1 validated p.F225 0.997 194 0% 186 38.7% - - - - - NULL APPL1 26060 genome.wustl.edu 37 3 57283566 57283566 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012096.2 +1 reviewed p.D348N 1.000 263 0% 206 24.3% - - possibly_damaging(0.62) tolerated(0.64) neutral(0.219) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 ASB14 142686 genome.wustl.edu 37 3 57312748 57312748 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142733.2 -1 reviewed p.A199V 1.000 185 0% 200 15.5% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat DNAH12 201625 genome.wustl.edu 37 3 57327988 57327988 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178504.4 -1 validated p.R3034W 0.000 174 0% 145 46.2% - - possibly_damaging(0.943) deleterious(0) deleterious(0.832) HMMPfam_Dynein_heavy DNAH12 201625 genome.wustl.edu 37 3 57330426 57330426 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178504.4 -1 validated p.D2989G 1.000 165 0% 116 26.7% - - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_Dynein_heavy DNAH12 201625 genome.wustl.edu 37 3 57335780 57335780 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178504.4 -1 validated p.R2925W 1.000 149 0% 152 54.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynein_heavy DNAH12 201625 genome.wustl.edu 37 3 57343826 57343826 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000462199 -1 known p.L474I 1.000 416 0% 245 44.5% - - - - - HMMPfam_Dynein_heavy DNAH12 201625 genome.wustl.edu 37 3 57368516 57368516 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178504.4 -1 validated p.L2451I 1.000 336 0% 209 47.8% - - benign(0.067) tolerated(0.11) neutral(0.276) HMMPfam_Dynein_heavy DNAH12 201625 genome.wustl.edu 37 3 57386114 57386114 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178504.4 -1 validated p.L2357M 0.993 182 0% 123 48% - - benign(0.003) tolerated(0.11) neutral(0.272) NULL DNAH12 201625 genome.wustl.edu 37 3 57487074 57487074 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178504.4 -1 validated p.D437Y 1.000 158 0% 62 54.8% - - benign(0.077) deleterious(0.03) neutral(0.370) NULL DNAH12 201625 genome.wustl.edu 37 3 57494906 57494906 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178504.4 -1 validated p.S168L 0.978 133 0% 117 46.2% - - benign(0) tolerated(0.82) neutral(0.001) NULL FAM116A 201627 genome.wustl.edu 37 3 57614592 57614592 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152678.2 -1 validated p.Q547 1.000 455 0% 393 27.2% - - - - - HMMPfam_DUF1630 SLMAP 7871 genome.wustl.edu 37 3 57902863 57902863 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000416870 +1 known p.S266L 1.000 176 0% 112 25% - - unknown(0) - - NULL PDHB 5162 genome.wustl.edu 37 3 58416535 58416535 + Silent SNP C C A rs1126551 byCluster;byFrequency;byHapMap;by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000925.3 -1 reviewed p.G146 0.135 149 0% 87 34.5% - - - - - HMMPfam_Transket_pyr,superfamily_Thiamin diphosphate-binding fold (THDP-binding) FHIT 2272 genome.wustl.edu 37 3 59999837 59999837 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002012.2 -1 reviewed p.D49Y 0.999 141 0% 147 27.9% - - possibly_damaging(0.844) deleterious(0) deleterious(0.768) HMMPfam_HIT,superfamily_HIT-like PTPRG 5793 genome.wustl.edu 37 3 62229545 62229545 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002841.3 +1 reviewed p.E814* 1.000 354 0% 255 11% - - - - - NULL PTPRG 5793 genome.wustl.edu 37 3 62267268 62267268 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002841.3 +1 reviewed p.R1266* 1.000 118 0.8% 89 64% - - - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II CADPS 8618 genome.wustl.edu 37 3 62459935 62459935 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000473635 -1 known p.S117F 1.000 398 0% 276 47.1% - - - - - NULL CADPS 8618 genome.wustl.edu 37 3 62535634 62535634 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003716.3 -1 reviewed p.K637R 1.000 191 0% 133 17.3% - - probably_damaging(0.999) tolerated(0.13) deleterious(0.743) superfamily_PH domain-like THOC7 80145 genome.wustl.edu 37 3 63824158 63824158 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025075.2 -1 validated p.R52H 1.000 215 0% 127 32.3% - - unknown(0) - - HMMPfam_THOC7 ADAMTS9 56999 genome.wustl.edu 37 3 64536612 64536612 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182920.1 -1 reviewed p.L1609V 0.000 136 0% 149 57.7% - - possibly_damaging(0.637) tolerated(0.55) neutral(0.230) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat MAGI1 9223 genome.wustl.edu 37 3 65367612 65367612 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001033057.1 -1 reviewed p.Q881* 1.000 275 0% 213 50.7% - - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like LRIG1 26018 genome.wustl.edu 37 3 66436411 66436411 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015541.2 -1 validated p.V595M 1.000 265 0% 230 51.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin LRIG1 26018 genome.wustl.edu 37 3 66460598 66460598 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015541.2 -1 validated p.R297H 0.215 178 0% 166 51.2% - - benign(0.184) tolerated(0.06) neutral(0.340) HMMSmart_SM00369,superfamily_L domain-like KBTBD8 84541 genome.wustl.edu 37 3 67049548 67049548 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032505.2 +1 validated p.E28* 1.000 284 0.4% 251 17.5% - - - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB KBTBD8 84541 genome.wustl.edu 37 3 67053841 67053841 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032505.2 +1 validated p.Q124H 0.964 132 0% 145 29% - - probably_damaging(0.981) deleterious(0.04) deleterious(0.774) NULL KBTBD8 84541 genome.wustl.edu 37 3 67058487 67058487 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032505.2 +1 validated p.R469H 1.000 181 0% 154 53.2% - - probably_damaging(0.999) tolerated(0.26) deleterious(0.524) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain SUCLG2 8801 genome.wustl.edu 37 3 67546323 67546323 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003848.3 -1 reviewed p.F321V 0.999 240 0% 153 11.8% - - benign(0.024) deleterious(0) neutral(0.446) HMMPfam_Ligase_CoA,superfamily_CoA_ligase,PatternScan_SUCCINYL_COA_LIG_3 SUCLG2 8801 genome.wustl.edu 37 3 67548683 67548683 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003848.3 -1 reviewed p.N265S 1.000 708 0% 554 51.3% - - benign(0.307) deleterious(0.03) neutral(0.460) superfamily_SSF56059 FAM19A1 407738 genome.wustl.edu 37 3 68055804 68055804 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_213609.2 +1 reviewed p.Y12C 1.000 485 0% 369 12.5% - - benign(0) tolerated(0.2) neutral(0.049) NULL TMF1 7110 genome.wustl.edu 37 3 69077068 69077068 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007114.2 -1 validated p.E914* 1.000 373 0% 302 50% - - - - - NULL ARL6IP5 10550 genome.wustl.edu 37 3 69153633 69153633 + Missense_Mutation SNP C C T rs11542221 byCluster TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006407.3 +1 reviewed p.S138L 1.000 130 0% 91 57.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PRA1 LMOD3 56203 genome.wustl.edu 37 3 69167987 69167987 + Missense_Mutation SNP C C T rs149196259 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198271.3 -1 validated p.E507K 1.000 282 0% 250 10.4% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL FOXP1 27086 genome.wustl.edu 37 3 71008430 71008430 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032682.4 -1 reviewed p.E668K 1.000 663 0.2% 478 25.7% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PROK2 60675 genome.wustl.edu 37 3 71830681 71830681 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001126128.1 -1 reviewed p.K53N 1.000 229 0% 191 29.8% - - probably_damaging(0.983) deleterious(0.01) deleterious(0.835) HMMPfam_Prokineticin,superfamily_Colipase-like SHQ1 55164 genome.wustl.edu 37 3 72861879 72861879 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018130.2 -1 validated p.R335C 1.000 415 0% 270 52.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SHQ1 GXYLT2 727936 genome.wustl.edu 37 3 73004291 73004291 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080393.1 +1 provisional p.D215N 0.998 196 0% 188 26.6% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Glyco_transf_8,superfamily_SSF53448 GXYLT2 727936 genome.wustl.edu 37 3 73004477 73004477 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080393.1 +1 provisional p.R277W 0.989 192 0% 139 27.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_8,superfamily_SSF53448 PPP4R2 151987 genome.wustl.edu 37 3 73096445 73096445 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_174907.2 +1 provisional p.V75 0.997 323 0.3% 221 48.9% - - - - - HMMPfam_PPP4R2 EBLN2 55096 genome.wustl.edu 37 3 73111477 73111477 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018029.3 +1 provisional p.K82T 0.007 151 0% 132 49.2% - - probably_damaging(0.958) deleterious(0) deleterious(0.846) HMMPfam_BDV_P40,superfamily_P40_nucleoprot_BD-vir MIR1324 100302212 genome.wustl.edu 37 3 75679986 75679986 + RNA SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000408868 +1 known NULL 0.759 1109 0% 561 12.8% - - - - - - ZNF717 100131827 genome.wustl.edu 37 3 75832469 75832469 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128223.1 -1 validated p.K15N 0.012 145 0% 77 50.6% - - benign(0.067) tolerated(0.43) neutral(0.018) superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ROBO1 6091 genome.wustl.edu 37 3 78711171 78711171 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002941.3 -1 reviewed p.S687Y 1.000 282 0% 217 28.1% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III HTR1F 3355 genome.wustl.edu 37 3 88040946 88040946 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000866.3 +1 validated p.I349 1.000 127 0% 83 51.8% - - - - - superfamily_SSF81321 C3orf38 285237 genome.wustl.edu 37 3 88205420 88205420 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000318887 +1 known p.E209* 1.000 289 0% 237 18.6% - - - - - superfamily_NTF2-like EPHA3 2042 genome.wustl.edu 37 3 89480458 89480458 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005233.5 +1 reviewed p.F765 0.998 356 0% 244 27% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) PROS1 5627 genome.wustl.edu 37 3 93603693 93603693 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000313.3 -1 reviewed p.K457N 0.997 305 0% 187 26.7% - - benign(0) tolerated(1) - HMMSmart_LamG,HMMPfam_Laminin_G_1 EPHA6 285220 genome.wustl.edu 37 3 96533745 96533745 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080448.2 +1 provisional p.R93I 0.001 94 0% 48 56.2% - - benign(0.303) deleterious(0) deleterious(0.538) NULL EPHA6 285220 genome.wustl.edu 37 3 96963003 96963003 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080448.2 +1 provisional p.S493Y 1.000 299 0% 230 20.4% - - probably_damaging(0.978) tolerated(0.74) neutral(0.422) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ARL6 84100 genome.wustl.edu 37 3 97506837 97506837 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032146.3 +1 reviewed p.I118T 1.000 160 0.6% 97 12.4% - - benign(0.259) deleterious(0) deleterious(0.472) HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases CRYBG3 131544 genome.wustl.edu 37 3 97596007 97596007 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153605.2 +1 validated p.S42F 1.000 135 0% 102 16.7% - - possibly_damaging(0.852) deleterious(0) deleterious(0.772) NULL CRYBG3 131544 genome.wustl.edu 37 3 97662134 97662134 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153605.2 +1 validated p.Q1015H 1.000 343 0% 161 55.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins MINA 84864 genome.wustl.edu 37 3 97686059 97686059 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042533.1 -1 validated p.D127Y 1.000 408 0% 270 23.3% - - benign(0.076) tolerated(0.83) neutral(0.006) HMMPfam_Cupin_4,superfamily_Clavaminate synthase-like GABRR3 200959 genome.wustl.edu 37 3 97744433 97744433 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105580.1 -1 provisional p.F72 1.000 440 0% 338 30.5% - - - - - HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like OR5H14 403273 genome.wustl.edu 37 3 97868297 97868297 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005514.1 +1 provisional p.W23* 0.001 283 0% 233 48.5% - - - - - superfamily_Family A G protein-coupled receptor-like OR5K3 403277 genome.wustl.edu 37 3 98109996 98109996 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005516.1 +1 provisional p.L163M 0.000 466 0% 438 29.7% - - probably_damaging(0.989) tolerated(0.07) deleterious(0.758) HMMPfam_7tm_1,superfamily_SSF81321 OR5K3 403277 genome.wustl.edu 37 3 98110334 98110334 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005516.1 +1 provisional p.F275L 0.990 316 0% 243 53.5% - - benign(0.003) deleterious(0.05) neutral(0.345) HMMPfam_7tm_1,superfamily_SSF81321 COL8A1 1295 genome.wustl.edu 37 3 99509854 99509854 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001850.3 +1 reviewed p.E110K 1.000 191 0% 104 18.3% - - unknown(0) tolerated(0.33) - NULL COL8A1 1295 genome.wustl.edu 37 3 99513094 99513094 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001850.3 +1 reviewed p.R117* 0.901 377 0% 266 25.9% - - - - - NULL FILIP1L 11259 genome.wustl.edu 37 3 99643129 99643129 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182909.2 -1 validated p.E184* 0.999 809 0% 647 27.5% - - - - - HMMPfam_CortBP2 TBC1D23 55773 genome.wustl.edu 37 3 99998496 99998496 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018309.2 +1 validated p.E19D 1.000 124 0% 68 55.9% - - benign(0) deleterious(0.03) neutral(0.364) NULL TBC1D23 55773 genome.wustl.edu 37 3 100000575 100000575 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000485687 +1 known p.S60Y 0.000 290 0% 188 45.2% - - probably_damaging(0.978) deleterious(0.01) deleterious(0.826) NULL NIT2 56954 genome.wustl.edu 37 3 100064474 100064474 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020202.4 +1 validated p.E128* 1.000 328 0% 273 26.7% - - - - - HMMPfam_CN_hydrolase,superfamily_Ntlse/CNhydtse TOMM70A 9868 genome.wustl.edu 37 3 100091563 100091563 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014820.3 -1 validated p.R447C 1.000 379 0% 252 25% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF48452 TOMM70A 9868 genome.wustl.edu 37 3 100100548 100100548 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014820.3 -1 validated p.T265 0.617 558 0.2% 417 21.6% - - - - - superfamily_SSF48452 GPR128 84873 genome.wustl.edu 37 3 100362177 100362177 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032787.2 +1 validated p.A256S 0.598 433 0% 294 16.3% - - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) NULL GPR128 84873 genome.wustl.edu 37 3 100378646 100378646 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032787.2 +1 validated p.I646 0.029 507 0.2% 340 27.4% - - - - - HMMPfam_7tm_2 IMPG2 50939 genome.wustl.edu 37 3 100961706 100961706 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016247.2 -1 validated p.E950* 1.000 196 0% 144 20.8% - - - - - HMMPfam_SEA,HMMSmart_SM00200,superfamily_SEA domain SENP7 57337 genome.wustl.edu 37 3 101047389 101047389 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020654.3 -1 validated p.P933S 1.000 202 0% 122 15.6% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_Peptidase_C48,superfamily_Cysteine proteinases SENP7 57337 genome.wustl.edu 37 3 101117879 101117879 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020654.3 -1 validated p.T168M 1.000 243 0.4% 228 48.7% - - possibly_damaging(0.657) deleterious(0) deleterious(0.676) NULL ZBTB11 27107 genome.wustl.edu 37 3 101373629 101373629 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014415.3 -1 validated p.S743Y 1.000 248 0% 169 40.8% - - possibly_damaging(0.924) deleterious(0) deleterious(0.818) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZBTB11 27107 genome.wustl.edu 37 3 101378821 101378821 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014415.3 -1 validated p.R618C 1.000 292 0% 224 29% - - probably_damaging(1) tolerated(0.18) deleterious(0.556) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZBTB11 27107 genome.wustl.edu 37 3 101383509 101383509 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014415.3 -1 validated p.R558I 1.000 682 0% 444 27.3% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL ZBTB11 27107 genome.wustl.edu 37 3 101390113 101390113 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014415.3 -1 validated p.F213 1.000 260 0% 186 17.7% - - - - - superfamily_BTB/POZ_fold,HMMPfam_BTB CBLB 868 genome.wustl.edu 37 3 105377967 105377967 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_170662.3 -1 validated p.V932 0.006 372 0% 240 52.9% - - - - - HMMPfam_UBA,HMMSmart_SM00165 CBLB 868 genome.wustl.edu 37 3 105438895 105438895 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_170662.3 -1 validated p.R468Q 1.000 191 0.5% 149 30.2% - - benign(0.141) deleterious(0.02) neutral(0.395) NULL CBLB 868 genome.wustl.edu 37 3 105438944 105438944 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_170662.3 -1 validated p.D452N 1.000 235 0% 188 53.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL HHLA2 11148 genome.wustl.edu 37 3 108070658 108070658 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000467562 +1 known p.R23I 0.818 332 0.3% 261 10.7% - - unknown(0) - - NULL HHLA2 11148 genome.wustl.edu 37 3 108072381 108072381 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007072.2 +1 provisional p.E58K 0.000 182 0.5% 136 45.6% - - possibly_damaging(0.438) tolerated(0.12) neutral(0.403) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 HHLA2 11148 genome.wustl.edu 37 3 108076747 108076747 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007072.2 +1 provisional p.D248Y 0.000 165 0% 109 45% - - benign(0.359) tolerated(0.1) neutral(0.400) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 HHLA2 11148 genome.wustl.edu 37 3 108076930 108076930 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007072.2 +1 provisional p.L309I 0.000 241 0% 151 24.5% - - possibly_damaging(0.873) tolerated(0.66) neutral(0.342) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 MYH15 22989 genome.wustl.edu 37 3 108110672 108110672 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014981.1 -1 validated p.L1809 0.989 690 0% 569 56.1% - - - - - HMMPfam_Myosin_tail_1,superfamily_Spectrin repeat MYH15 22989 genome.wustl.edu 37 3 108124288 108124288 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014981.1 -1 validated p.R1565C 0.362 161 0% 139 53.2% - - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) HMMPfam_Myosin_tail_1 MYH15 22989 genome.wustl.edu 37 3 108211371 108211371 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014981.1 -1 validated p.L303I 0.087 391 0% 236 49.2% - - possibly_damaging(0.765) deleterious(0.04) deleterious(0.633) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases KIAA1524 57650 genome.wustl.edu 37 3 108276119 108276119 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020890.2 -1 validated p.S719F 1.000 378 0% 332 17.8% - - probably_damaging(0.968) tolerated(0.05) deleterious(0.755) NULL KIAA1524 57650 genome.wustl.edu 37 3 108298491 108298491 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020890.2 -1 validated p.A198 0.983 259 0% 116 50% - - - - - superfamily_ARM repeat DZIP3 9666 genome.wustl.edu 37 3 108373065 108373065 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014648.3 +1 validated p.K703Q 0.491 352 0% 193 30.1% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL MORC1 27136 genome.wustl.edu 37 3 108677946 108677946 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014429.3 -1 reviewed p.E941* 0.970 108 0% 49 22.4% - - - - - NULL DPPA2 151871 genome.wustl.edu 37 3 109028101 109028101 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138815.3 -1 validated p.P86 0.001 446 0% 245 23.7% - - - - - NULL DPPA4 55211 genome.wustl.edu 37 3 109049638 109049638 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018189.3 -1 validated p.E138* 0.898 180 0% 94 22.3% - - - - - NULL PVRL3 25945 genome.wustl.edu 37 3 110852623 110852623 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015480.1 +1 provisional p.T404M 0.998 402 0% 285 24.9% - - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL ZBED2 79413 genome.wustl.edu 37 3 111312789 111312789 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024508.3 -1 validated p.R87H 0.001 213 0% 219 31.5% - - probably_damaging(0.969) tolerated(0.19) neutral(0.461) HMMPfam_zf-BED,HMMSmart_ZnF_BED PHLDB2 90102 genome.wustl.edu 37 3 111603067 111603067 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134438.1 +1 validated p.R48I 0.996 179 0% 139 47.5% - - possibly_damaging(0.805) deleterious(0.02) deleterious(0.686) NULL PHLDB2 90102 genome.wustl.edu 37 3 111603819 111603819 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134438.1 +1 validated p.D299Y 0.998 311 0% 185 55.7% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL PHLDB2 90102 genome.wustl.edu 37 3 111632560 111632560 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000477695 +1 known p.A577V 0.000 235 0% 167 52.7% - - benign(0.095) - - NULL PHLDB2 90102 genome.wustl.edu 37 3 111667826 111667826 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134438.1 +1 validated p.T845 1.000 133 0% 106 57.5% - - - - - NULL TAGLN3 29114 genome.wustl.edu 37 3 111732430 111732430 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000494932 +1 known p.T118 0.000 62 0% 42 26.2% - - - - - NULL MIR567 693152 genome.wustl.edu 37 3 111831682 111831682 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000385205 +1 known NULL 0.000 322 0% 278 51.1% - - - - - - SLC35A5 55032 genome.wustl.edu 37 3 112299937 112299937 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017945.2 +1 provisional p.K325E 1.000 177 0% 173 25.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Nuc_sug_transp CD200R1L 344807 genome.wustl.edu 37 3 112546080 112546080 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008784.2 -1 validated p.E147K 0.516 137 0% 130 24.6% - - possibly_damaging(0.542) deleterious(0.05) deleterious(0.529) superfamily_Immunoglobulin C3orf17 25871 genome.wustl.edu 37 3 112724738 112724738 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015412.3 -1 validated p.F450C 0.312 340 0% 229 54.6% - - possibly_damaging(0.894) deleterious(0.02) deleterious(0.735) NULL WDR52 55779 genome.wustl.edu 37 3 113052257 113052257 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000393845 -1 known p.S352Y 0.012 326 0% 261 22.6% - - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL WDR52 55779 genome.wustl.edu 37 3 113115523 113115523 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018338.3 -1 validated p.R541* 1.000 259 0% 206 19.9% - - - - - superfamily_WD40_like WDR52 55779 genome.wustl.edu 37 3 113118757 113118757 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018338.3 -1 validated p.R522Q 0.000 155 0% 86 52.3% - - benign(0.019) tolerated(0.53) neutral(0.009) superfamily_WD40_like SPICE1 152185 genome.wustl.edu 37 3 113218327 113218327 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144718.3 -1 validated p.T84P 0.007 526 0% 426 24.4% - - benign(0.038) tolerated(0.24) neutral(0.040) NULL KIAA2018 205717 genome.wustl.edu 37 3 113376444 113376444 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009899.2 -1 validated p.R1362I 0.954 263 0% 190 29.5% - - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) NULL KIAA2018 205717 genome.wustl.edu 37 3 113376526 113376526 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009899.2 -1 validated p.D1335Y 1.000 166 0% 142 54.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATP6V1A 523 genome.wustl.edu 37 3 113517215 113517215 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001690.2 +1 reviewed p.F472 1.000 239 0% 175 48.6% - - - - - superfamily_C-terminal domain of alpha and beta subunits of F1 ATP synthase ZNF80 7634 genome.wustl.edu 37 3 113955149 113955149 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007136.3 -1 validated p.S258F 0.005 200 0% 155 19.4% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ZNF80 7634 genome.wustl.edu 37 3 113955221 113955221 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007136.3 -1 validated p.R234Q 0.000 229 0% 166 49.4% - - benign(0.042) tolerated(1) neutral(0.003) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF80 7634 genome.wustl.edu 37 3 113955907 113955907 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007136.3 -1 validated p.R5 0.000 121 0% 119 47.1% - - - - - NULL TIGIT 201633 genome.wustl.edu 37 3 114014580 114014580 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173799.3 +1 validated p.R84* 0.067 126 0% 101 54.5% - - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ZBTB20 26137 genome.wustl.edu 37 3 114070219 114070219 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015642.4 -1 validated p.P163T 0.959 63 1.6% 64 57.8% - - benign(0) tolerated(0.06) neutral(0.323) NULL LSAMP 4045 genome.wustl.edu 37 3 115805184 115805184 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002338.3 -1 reviewed p.Y125* 1.000 295 0% 176 55.1% - - - - - HMMSmart_IG,superfamily_SSF48726 IGSF11 152404 genome.wustl.edu 37 3 118621614 118621614 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001015887.1 -1 validated p.G350D 0.921 132 0% 117 24.8% - - probably_damaging(0.996) tolerated(0.18) deleterious(0.518) NULL ARHGAP31 57514 genome.wustl.edu 37 3 119132789 119132789 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020754.2 +1 reviewed p.S671 0.000 77 0% 108 54.6% - - - - - NULL ARHGAP31 57514 genome.wustl.edu 37 3 119132832 119132832 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020754.2 +1 reviewed p.L686I 0.000 117 0% 134 29.9% - - benign(0.006) deleterious(0) neutral(0.445) NULL POGLUT1 56983 genome.wustl.edu 37 3 119204231 119204231 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152305.2 +1 validated p.S212L 1.000 443 0% 244 24.6% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00672,HMMPfam_DUF821 ADPRH 141 genome.wustl.edu 37 3 119305410 119305410 + Nonsense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001125.2 +1 reviewed p.K193* 0.996 108 0% 84 27.4% - - - - - HMMPfam_ADP_ribosyl_GH,superfamily_ADP-ribosylglycohydrolase ADPRH 141 genome.wustl.edu 37 3 119306422 119306422 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001125.2 +1 reviewed p.F257L 1.000 241 0% 179 50.8% - - probably_damaging(0.973) tolerated(0.4) neutral(0.431) HMMPfam_ADP_ribosyl_GH,superfamily_ADP-ribosylglycohydrolase PLA1A 51365 genome.wustl.edu 37 3 119325710 119325710 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015900.2 +1 validated p.L55I 1.000 131 0% 99 43.4% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases PLA1A 51365 genome.wustl.edu 37 3 119328423 119328423 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015900.2 +1 validated p.G188C 1.000 168 0% 164 25% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases POPDC2 64091 genome.wustl.edu 37 3 119373456 119373456 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022135.2 -1 reviewed p.R166C 1.000 134 0% 85 42.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Popeye,superfamily_cAMP-binding domain-like GSK3B 2932 genome.wustl.edu 37 3 119582439 119582439 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002093.3 -1 reviewed p.R321Q 1.000 324 0% 241 49.4% - - probably_damaging(0.973) deleterious(0.02) deleterious(0.798) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase GSK3B 2932 genome.wustl.edu 37 3 119634999 119634999 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002093.3 -1 reviewed p.R167Q 1.000 224 0% 136 44.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase GSK3B 2932 genome.wustl.edu 37 3 119642289 119642289 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002093.3 -1 reviewed p.P136 1.000 235 0% 149 29.5% - - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase GPR156 165829 genome.wustl.edu 37 3 119886225 119886225 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153002.2 -1 validated p.S700F 0.205 62 0% 47 48.9% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL GPR156 165829 genome.wustl.edu 37 3 119886268 119886268 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153002.2 -1 validated p.E686K 0.000 77 0% 59 18.6% - - benign(0.026) tolerated(0.81) neutral(0.002) NULL FSTL1 11167 genome.wustl.edu 37 3 120130758 120130758 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007085.4 -1 reviewed p.R81* 1.000 281 0% 231 14.3% - - - - - HMMSmart_KAZAL,HMMPfam_Kazal_2,superfamily_SSF100895 HGD 3081 genome.wustl.edu 37 3 120360471 120360471 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000187.3 -1 reviewed p.F282V 1.000 265 0% 218 57.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HgmA,superfamily_RmlC-like cupins GTF2E1 2960 genome.wustl.edu 37 3 120469565 120469565 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005513.2 +1 validated p.R56W 1.000 242 0% 175 31.4% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_TFIIE_alpha,HMMSmart_TFIIE POLQ 10721 genome.wustl.edu 37 3 121207190 121207190 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199420.3 -1 validated p.E1530K 0.001 70 0% 76 55.3% - - benign(0.132) deleterious(0) neutral(0.456) NULL POLQ 10721 genome.wustl.edu 37 3 121207459 121207459 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199420.3 -1 validated p.S1440L 1.000 93 0% 102 11.8% - - benign(0.181) deleterious(0) neutral(0.461) NULL GOLGB1 2804 genome.wustl.edu 37 3 121383436 121383436 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004487.3 -1 validated p.R3224Q 0.963 153 0% 125 12.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GOLGB1 2804 genome.wustl.edu 37 3 121410001 121410001 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004487.3 -1 validated p.Q2732P 1.000 577 0% 585 26.8% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL CASR 846 genome.wustl.edu 37 3 121973064 121973064 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000388.3 +1 reviewed p.L10I 0.996 123 0% 99 28.3% - - possibly_damaging(0.608) deleterious(0.03) deleterious(0.575) NULL FAM162A 26355 genome.wustl.edu 37 3 122128637 122128637 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014367.3 +1 validated p.R142C 1.000 179 0% 146 26% - - benign(0.205) tolerated(0.11) neutral(0.292) HMMPfam_DUF1075 PARP14 54625 genome.wustl.edu 37 3 122404132 122404132 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000494811 +1 known p.R105* 0.004 314 0% 170 26.5% - - - - - NULL PARP14 54625 genome.wustl.edu 37 3 122418266 122418266 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017554.2 +1 validated p.D289N 0.000 190 0% 172 12.2% - - benign(0.071) tolerated(0.26) neutral(0.039) NULL PARP14 54625 genome.wustl.edu 37 3 122437687 122437687 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017554.2 +1 validated p.K1563N 0.000 152 0.7% 119 27.7% - - possibly_damaging(0.696) tolerated(0.3) neutral(0.278) NULL DIRC2 84925 genome.wustl.edu 37 3 122545809 122545809 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032839.2 +1 reviewed p.V200 0.969 261 0% 229 26.2% - - - - - superfamily_MFS general substrate transporter SEMA5B 54437 genome.wustl.edu 37 3 122631187 122631187 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031702.2 -1 validated p.R910W 0.884 75 0% 59 39% - - possibly_damaging(0.752) deleterious(0.01) deleterious(0.681) superfamily_TSP-1 type 1 repeat ADCY5 111 genome.wustl.edu 37 3 123005539 123005539 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_183357.1 -1 validated p.R1217H 1.000 123 0% 109 52.3% - - probably_damaging(0.994) tolerated(0.28) deleterious(0.484) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase ADCY5 111 genome.wustl.edu 37 3 123010043 123010043 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_183357.1 -1 validated p.E1082K 1.000 99 0% 83 59% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase PTPLB 201562 genome.wustl.edu 37 3 123219414 123219414 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000493515 -1 known p.L43F 1.000 422 0% 212 51.9% - - - - - HMMPfam_PTPLA CCDC14 64770 genome.wustl.edu 37 3 123665877 123665877 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022757.4 -1 validated p.R332Q 0.000 842 0% 650 54.6% - - benign(0.006) tolerated(0.64) neutral(0.003) NULL ROPN1 54763 genome.wustl.edu 37 3 123694388 123694388 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017578.2 -1 provisional e3-1 1.000 493 0% 415 26.5% - - - - - - KALRN 8997 genome.wustl.edu 37 3 124180772 124180772 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001024660.3 +1 reviewed p.A1295V 1.000 266 0% 184 15.8% - - benign(0.007) tolerated(0.19) neutral(0.050) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) KALRN 8997 genome.wustl.edu 37 3 124393288 124393288 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000354186 +1 known p.S2309Y 1.000 120 0% 144 30.6% - - - - - HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 UMPS 7372 genome.wustl.edu 37 3 124456785 124456785 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000474588 +1 known p.R112W 0.911 287 0% 258 53.9% - - possibly_damaging(0.461) deleterious(0.01) deleterious(0.556) NULL UMPS 7372 genome.wustl.edu 37 3 124456992 124456992 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000373.3 +1 reviewed p.K296N 1.000 279 0% 198 12.6% - - benign(0) tolerated(0.48) neutral(0.011) HMMPfam_OMPdecase,superfamily_Ribulose-phoshate binding barrel MUC13 56667 genome.wustl.edu 37 3 124646448 124646448 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033049.2 -1 validated p.E148* 0.000 588 0.3% 565 24.8% - - - - - NULL HEG1 57493 genome.wustl.edu 37 3 124732833 124732833 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020733.1 -1 validated p.I530 0.713 332 0% 234 29.5% - - - - - NULL ZNF148 7707 genome.wustl.edu 37 3 124951340 124951340 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021964.2 -1 validated p.I744L 1.000 176 0% 115 28.7% - - benign(0) deleterious(0.02) neutral(0.383) NULL MIR548I1 100302204 genome.wustl.edu 37 3 125509331 125509331 + RNA SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000408810 -1 known NULL 0.005 210 0% 142 21.8% - - - - - - ALDH1L1 10840 genome.wustl.edu 37 3 125855661 125855661 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012190.2 -1 reviewed p.F430 0.998 243 0% 189 10.6% - - - - - HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH ZXDC 79364 genome.wustl.edu 37 3 126194041 126194041 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025112.4 -1 validated p.Y223C 1.000 47 0% 40 22.5% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers UROC1 131669 genome.wustl.edu 37 3 126224818 126224818 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144639.2 -1 reviewed p.I213 0.766 36 0% 41 51.2% - - - - - HMMPfam_Urocanase,superfamily_Urocanase PLXNA1 5361 genome.wustl.edu 37 3 126737187 126737187 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032242.3 +1 validated p.S1214 0.091 35 0% 60 15% - - - - - HMMSmart_SM00429 PLXNA1 5361 genome.wustl.edu 37 3 126737359 126737359 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032242.3 +1 validated p.E1272K 1.000 34 0% 46 52.2% - - benign(0.127) deleterious(0) neutral(0.455) NULL TPRA1 131601 genome.wustl.edu 37 3 127295857 127295857 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016372.2 -1 validated p.S107 0.007 44 0% 66 31.8% - - - - - HMMPfam_Tmemb_40 KBTBD12 166348 genome.wustl.edu 37 3 127641975 127641975 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207335.2 +1 validated p.M24T 1.000 199 0% 117 14.5% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_POZ domain,HMMPfam_BTB KBTBD12 166348 genome.wustl.edu 37 3 127642523 127642523 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207335.2 +1 validated p.E207* 0.002 176 0% 150 48.7% - - - - - HMMPfam_BACK KBTBD12 166348 genome.wustl.edu 37 3 127642695 127642695 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207335.2 +1 validated p.S264Y 0.000 255 0% 216 54.6% - - possibly_damaging(0.623) deleterious(0.04) deleterious(0.566) NULL RUVBL1 8607 genome.wustl.edu 37 3 127819494 127819494 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003707.2 -1 validated p.E233* 1.000 219 0% 199 16.6% - - - - - HMMSmart_SM00382,HMMPfam_TIP49,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAJB8 165721 genome.wustl.edu 37 3 128181828 128181828 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153330.2 -1 validated p.F87 0.277 177 0% 164 36.6% - - - - - superfamily_Chaperone J-domain RPN1 6184 genome.wustl.edu 37 3 128348836 128348836 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002950.3 -1 reviewed p.V332I 0.999 205 0% 151 29.8% - - benign(0) tolerated(1) - HMMPfam_Ribophorin_I CCDC48 79825 genome.wustl.edu 37 3 128721116 128721116 + Frame_Shift_Del DEL G G - novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000480450 +1 known p.D216fs 1.000 - - - - - - - - - NULL ISY1 57461 genome.wustl.edu 37 3 128859247 128859247 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020701.2 -1 provisional p.D128Y 1.000 541 0% 389 51.9% - - benign(0.212) deleterious(0) neutral(0.465) HMMPfam_Isy1 CNBP 7555 genome.wustl.edu 37 3 128889962 128889962 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127192.1 -1 reviewed p.G128R 1.000 213 0% 160 20.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-CCHC,HMMSmart_SM00343,superfamily_Retrovirus zinc finger-like domains CNBP 7555 genome.wustl.edu 37 3 128890058 128890058 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127192.1 -1 reviewed p.R96* 1.000 215 0% 166 21.7% - - - - - superfamily_Retrovirus zinc finger-like domains IFT122 55764 genome.wustl.edu 37 3 129207237 129207237 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052985.2 +1 reviewed p.K714N 1.000 147 0% 104 45.2% - - possibly_damaging(0.521) deleterious(0.02) deleterious(0.558) NULL COL6A5 256076 genome.wustl.edu 37 3 130150497 130150497 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153264.5 +1 validated p.L1813I 1.000 109 0% 113 47.8% - - probably_damaging(0.994) - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 COL6A5 256076 genome.wustl.edu 37 3 130150732 130150732 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153264.5 +1 validated p.A1891V 1.000 503 0% 317 47% - - possibly_damaging(0.929) - - HMMSmart_VWA,superfamily_SSF53300 ATP2C1 27032 genome.wustl.edu 37 3 130699476 130699476 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001486.1 +1 reviewed p.E598* 1.000 527 0% 318 50.3% - - - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M ATP2C1 27032 genome.wustl.edu 37 3 130714897 130714897 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001486.1 +1 reviewed p.E690K 1.000 90 0% 71 54.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Calcium ATPase transmembrane domain M NEK11 79858 genome.wustl.edu 37 3 130873879 130873879 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024800.4 +1 reviewed e8-1 0.967 377 0% 237 20.3% - - - - - - NEK11 79858 genome.wustl.edu 37 3 130992351 130992351 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024800.4 +1 reviewed p.D551Y 0.352 166 0% 156 26.3% - - possibly_damaging(0.519) tolerated(0.07) deleterious(0.493) NULL NEK11 79858 genome.wustl.edu 37 3 131068483 131068483 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024800.4 +1 reviewed p.E601K 0.879 180 0% 140 13.6% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MRPL3 11222 genome.wustl.edu 37 3 131208901 131208901 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007208.2 -1 reviewed p.F164L 1.000 381 0% 253 25.3% - - benign(0) tolerated(1) - HMMPfam_Ribosomal_L3,superfamily_Translation proteins MRPL3 11222 genome.wustl.edu 37 3 131220560 131220560 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007208.2 -1 reviewed e2-1 0.978 118 0% 106 21.7% - - - - - - CPNE4 131034 genome.wustl.edu 37 3 131261536 131261536 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_130808.1 -1 reviewed p.I468 1.000 215 0% 173 20.8% - - - - - HMMSmart_SM00327,HMMPfam_Copine,superfamily_vWA-like DNAJC13 23317 genome.wustl.edu 37 3 132153397 132153397 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015268.3 +1 validated p.M1I 1.000 375 0% 279 23.3% - - benign(0.356) deleterious(0) deleterious(0.557) NULL DNAJC13 23317 genome.wustl.edu 37 3 132211376 132211376 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015268.3 +1 validated p.E1248K 1.000 248 0% 166 50% - - benign(0.021) deleterious(0.02) neutral(0.384) superfamily_ARM repeat DNAJC13 23317 genome.wustl.edu 37 3 132233471 132233471 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015268.3 +1 validated p.M1814I 1.000 424 0% 330 24.5% - - benign(0.01) tolerated(0.12) neutral(0.261) superfamily_ARM repeat NPHP3 27031 genome.wustl.edu 37 3 132405228 132405228 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153240.3 -1 reviewed p.G1069R 1.000 188 0% 183 19.7% - - probably_damaging(0.994) tolerated(0.09) deleterious(0.748) superfamily_TPR-like NPHP3 27031 genome.wustl.edu 37 3 132410081 132410081 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153240.3 -1 reviewed p.S842Y 0.223 285 0.4% 150 10% - - possibly_damaging(0.92) deleterious(0) deleterious(0.816) NULL NPHP3 27031 genome.wustl.edu 37 3 132438552 132438552 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153240.3 -1 reviewed p.F172 1.000 491 0% 232 24.6% - - - - - NULL TOPBP1 11073 genome.wustl.edu 37 3 133347426 133347426 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007027.3 -1 reviewed p.L891P 0.988 354 0% 332 28.9% - - probably_damaging(0.999) tolerated(0.27) deleterious(0.524) NULL TOPBP1 11073 genome.wustl.edu 37 3 133356935 133356935 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007027.3 -1 reviewed p.R769C 0.013 491 0% 385 51.7% - - benign(0.004) deleterious(0.02) neutral(0.383) NULL TF 7018 genome.wustl.edu 37 3 133476735 133476735 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001063.3 +1 reviewed p.K331N 0.369 201 0.5% 151 60.9% - - benign(0.042) tolerated(0.4) neutral(0.018) HMMPfam_Transferrin,HMMSmart_SM00094,superfamily_Periplasmic binding protein-like II TF 7018 genome.wustl.edu 37 3 133478150 133478150 + Missense_Mutation SNP G G A rs121918680 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001063.3 +1 reviewed p.E394K 1.000 274 0.4% 251 15.5% - - probably_damaging(1) tolerated(0.18) deleterious(0.556) HMMPfam_Transferrin,HMMSmart_SM00094,superfamily_Periplasmic binding protein-like II RAB6B 51560 genome.wustl.edu 37 3 133553425 133553425 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016577.3 -1 validated p.E186* 1.000 155 0% 101 53.5% - - - - - HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases SLCO2A1 6578 genome.wustl.edu 37 3 133670122 133670122 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005630.2 -1 validated p.S264Y 1.000 170 0% 114 54.4% - - unknown(0) deleterious(0) - HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter RYK 6259 genome.wustl.edu 37 3 133896918 133896918 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000472234 -1 known NULL 1.000 167 0% 92 9.8% - - - - - - RYK 6259 genome.wustl.edu 37 3 133907742 133907742 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005861.2 -1 reviewed p.D350N 1.000 311 0% 194 28.4% - - - - - NULL RYK 6259 genome.wustl.edu 37 3 133941271 133941271 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005861.2 -1 reviewed p.E115K 0.890 192 0% 109 52.3% - - - - - NULL ANAPC13 25847 genome.wustl.edu 37 3 134201761 134201761 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_024400.1 -1 reviewed NULL 0.007 382 0% 328 27.1% - - - - - - EPHB1 2047 genome.wustl.edu 37 3 134920439 134920439 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004441.4 +1 reviewed p.V752I 1.000 300 0% 239 54% - - probably_damaging(0.978) tolerated(0.17) deleterious(0.479) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like) PPP2R3A 5523 genome.wustl.edu 37 3 135721791 135721791 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002718.3 +1 reviewed p.D484A 0.021 101 0% 50 36% - - benign(0.002) deleterious(0.01) neutral(0.406) NULL DZIP1L 199221 genome.wustl.edu 37 3 137783575 137783575 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000486487 -1 known p.E49K 0.875 189 0.5% 155 22.6% - - - - - NULL DZIP1L 199221 genome.wustl.edu 37 3 137790667 137790667 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173543.2 -1 validated p.G478E 0.996 135 0% 93 52.7% - - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL A4GNT 51146 genome.wustl.edu 37 3 137843191 137843191 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016161.2 -1 reviewed p.R313H 0.370 260 0% 323 46.4% - - possibly_damaging(0.643) tolerated(0.08) deleterious(0.525) HMMPfam_Gb3_synth ARMC8 25852 genome.wustl.edu 37 3 137940769 137940769 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015396.3 +1 validated p.D28Y 1.000 408 0% 288 26.4% - - benign(0.002) tolerated(0.17) neutral(0.059) superfamily_ARM-type_fold ARMC8 25852 genome.wustl.edu 37 3 138003318 138003318 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015396.3 +1 validated p.D577Y 1.000 276 0% 195 25.6% - - possibly_damaging(0.772) deleterious(0.01) deleterious(0.693) superfamily_ARM-type_fold NME9 347736 genome.wustl.edu 37 3 138033203 138033203 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000474690 -1 known p.W74* 0.000 586 0% 385 54.3% - - benign(0) tolerated(0.65) neutral(0.003) NULL NME9 347736 genome.wustl.edu 37 3 138037034 138037034 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178130.2 -1 provisional p.E53K 0.230 252 0% 211 12.3% - - benign(0.15) tolerated(0.17) neutral(0.072) superfamily_Thiordxn-like_fd CEP70 80321 genome.wustl.edu 37 3 138256161 138256161 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024491.2 -1 validated p.R165Q 0.640 473 0% 352 16.5% - - probably_damaging(0.982) tolerated(0.09) deleterious(0.723) NULL CEP70 80321 genome.wustl.edu 37 3 138289168 138289168 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024491.2 -1 validated p.T153A 0.996 333 0% 260 29.2% - - benign(0.096) tolerated(0.84) neutral(0.007) NULL FAIM 55179 genome.wustl.edu 37 3 138340328 138340328 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001033030.1 +1 validated p.E54K 1.000 568 0% 303 21.1% - - probably_damaging(0.978) deleterious(0.01) deleterious(0.826) HMMPfam_FAIM1 PIK3CB 5291 genome.wustl.edu 37 3 138426012 138426012 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006219.1 -1 provisional p.P507S 1.000 364 0% 243 21% - - benign(0) tolerated(0.84) neutral(0.001) NULL MRPS22 56945 genome.wustl.edu 37 3 139065787 139065787 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000466690 +1 known p.E76K 0.636 192 0% 131 56.5% - - - - - HMMPfam_MRP-S22 MRPS22 56945 genome.wustl.edu 37 3 139074622 139074622 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020191.2 +1 reviewed p.N326T 0.377 184 0% 123 51.2% - - benign(0.174) tolerated(0.11) neutral(0.288) NULL MRPS22 56945 genome.wustl.edu 37 3 139075836 139075836 + Missense_Mutation SNP C C T rs191025290 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020191.2 +1 reviewed p.R355C 0.829 88 0% 34 32.4% - - possibly_damaging(0.7) tolerated(0.05) deleterious(0.597) NULL TRIM42 287015 genome.wustl.edu 37 3 140406664 140406664 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152616.3 +1 reviewed p.F380 0.980 170 0% 123 56.1% - - - - - NULL TRIM42 287015 genome.wustl.edu 37 3 140407137 140407137 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152616.3 +1 reviewed p.S538Y 0.997 181 0% 132 11.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ACPL2 92370 genome.wustl.edu 37 3 141011816 141011816 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001037172.1 +1 validated p.I404 1.000 213 0.5% 168 28.6% - - - - - HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like ZBTB38 253461 genome.wustl.edu 37 3 141162159 141162159 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080412.2 +1 validated p.P310Q 0.014 75 0% 82 59.8% - - possibly_damaging(0.905) tolerated(0.73) neutral(0.361) NULL ZBTB38 253461 genome.wustl.edu 37 3 141164255 141164255 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080412.2 +1 validated p.P1009S 0.988 89 1.1% 76 42.1% - - benign(0.012) tolerated(0.32) neutral(0.025) superfamily_SSF57667 ZBTB38 253461 genome.wustl.edu 37 3 141164428 141164428 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080412.2 +1 validated p.F1066 0.918 167 0% 138 13% - - - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 GRK7 131890 genome.wustl.edu 37 3 141535695 141535695 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139209.2 +1 reviewed p.F489V 0.999 226 0% 176 51.7% - - probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMSmart_S_TK_X GK5 256356 genome.wustl.edu 37 3 141906615 141906615 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039547.2 -1 validated p.K184Q 1.000 296 0% 190 11.6% - - benign(0.056) tolerated(0.54) neutral(0.011) HMMPfam_FGGY_N,superfamily_Actin-like ATPase domain GK5 256356 genome.wustl.edu 37 3 141934453 141934453 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039547.2 -1 validated p.E77* 1.000 186 0% 130 28.5% - - - - - HMMPfam_FGGY_N,superfamily_Actin-like ATPase domain XRN1 54464 genome.wustl.edu 37 3 142151627 142151627 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019001.3 -1 validated p.T62A 0.946 180 0% 107 23.4% - - benign(0) tolerated(0.73) neutral(0.002) HMMPfam_XRN_N ATR 545 genome.wustl.edu 37 3 142168429 142168429 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001184.3 -1 reviewed p.L2593I 1.000 222 0% 199 28.1% - - possibly_damaging(0.62) tolerated(0.19) neutral(0.266) HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) ATR 545 genome.wustl.edu 37 3 142178199 142178199 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001184.3 -1 reviewed p.R2407C 1.000 137 0% 92 63% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) ATR 545 genome.wustl.edu 37 3 142215937 142215937 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001184.3 -1 reviewed p.R1886* 1.000 230 0% 156 30.1% - - - - - HMMPfam_FAT,superfamily_ARM repeat,superfamily_TPR-like TRPC1 7220 genome.wustl.edu 37 3 142503850 142503850 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003304.4 +1 validated p.R388I 1.000 243 0% 190 51.1% - - benign(0.006) tolerated(0.58) neutral(0.005) NULL TRPC1 7220 genome.wustl.edu 37 3 142524891 142524891 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003304.4 +1 validated p.Q698H 0.983 251 0% 169 53.8% - - possibly_damaging(0.805) deleterious(0.01) deleterious(0.709) NULL TRPC1 7220 genome.wustl.edu 37 3 142524994 142524994 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003304.4 +1 validated p.D733Y 1.000 160 0% 116 28.4% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL PCOLCE2 26577 genome.wustl.edu 37 3 142548659 142548659 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013363.3 -1 validated p.L247R 1.000 237 0% 165 52.7% - - possibly_damaging(0.501) tolerated(0.31) neutral(0.195) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain SLC9A9 285195 genome.wustl.edu 37 3 143185984 143185984 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173653.3 -1 reviewed p.S455Y 0.998 298 0% 222 17.1% - - probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_Na_H_Exchanger SLC9A9 285195 genome.wustl.edu 37 3 143271276 143271276 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173653.3 -1 reviewed p.L339 0.998 409 0% 288 22.2% - - - - - HMMPfam_Na_H_Exchanger C3orf58 205428 genome.wustl.edu 37 3 143704469 143704469 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173552.3 +1 validated p.E248* 1.000 388 0% 274 27% - - - - - NULL C3orf58 205428 genome.wustl.edu 37 3 143708611 143708611 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173552.3 +1 validated p.K407N 1.000 215 0% 140 22.1% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL PLOD2 5352 genome.wustl.edu 37 3 145806486 145806486 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182943.2 -1 reviewed p.V298I 1.000 431 0.2% 208 25% - - possibly_damaging(0.927) tolerated(0.43) neutral(0.389) NULL PLSCR2 57047 genome.wustl.edu 37 3 146159589 146159589 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020359.1 -1 provisional p.R222I 0.001 350 0% 160 20.6% - - possibly_damaging(0.721) deleterious(0.01) deleterious(0.667) HMMPfam_Scramblase PLSCR5 389158 genome.wustl.edu 37 3 146307530 146307530 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001085420.1 -1 validated p.V229 0.535 331 0% 219 21.9% - - - - - HMMPfam_Scramblase PLSCR5 389158 genome.wustl.edu 37 3 146309556 146309556 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001085420.1 -1 validated p.I189S 1.000 330 0% 167 32.3% - - benign(0.139) deleterious(0) neutral(0.457) HMMPfam_Scramblase ZIC4 84107 genome.wustl.edu 37 3 147114006 147114006 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000383075 -1 known p.L107 0.998 28 0% 44 20.5% - - - - - NULL HLTF 6596 genome.wustl.edu 37 3 148786042 148786042 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003071.3 -1 reviewed p.K325N 1.000 256 0% 156 39.7% - - possibly_damaging(0.532) deleterious(0.02) deleterious(0.563) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases HPS3 84343 genome.wustl.edu 37 3 148857880 148857880 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032383.3 +1 reviewed p.R103C 0.997 291 0% 160 31.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL HPS3 84343 genome.wustl.edu 37 3 148884924 148884924 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032383.3 +1 reviewed p.R898H 0.107 283 0.4% 218 27.5% - - benign(0.001) tolerated(0.55) neutral(0.007) NULL CP 1356 genome.wustl.edu 37 3 148939454 148939454 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000096.3 -1 reviewed p.K42N 0.969 163 0% 95 50.5% - - probably_damaging(0.962) deleterious(0.04) deleterious(0.754) superfamily_Cupredoxins WWTR1 25937 genome.wustl.edu 37 3 149260151 149260151 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015472.4 -1 validated p.R248* 0.024 247 0% 269 27.1% - - - - - NULL FAM194A 131831 genome.wustl.edu 37 3 150377767 150377767 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152394.3 -1 validated p.S635Y 0.072 321 0% 205 53.2% - - possibly_damaging(0.923) deleterious(0.03) deleterious(0.737) NULL SIAH2 6478 genome.wustl.edu 37 3 150460461 150460461 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005067.5 -1 reviewed p.T148A 1.000 175 0% 179 22.9% - - benign(0) tolerated(0.11) neutral(0.272) superfamily_Traf_like,HMMPfam_Sina,superfamily_SSF57850 SIAH2 6478 genome.wustl.edu 37 3 150480319 150480319 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005067.5 -1 reviewed p.Q106 1.000 33 0% 28 14.3% - - - - - HMMSmart_RING,superfamily_SSF57850 MED12L 116931 genome.wustl.edu 37 3 150876532 150876532 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_053002.4 +1 reviewed p.K261N 1.000 207 0% 175 20% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GPR171 29909 genome.wustl.edu 37 3 150916536 150916536 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013308.3 -1 validated p.E213A 0.087 151 0% 85 69.4% - - benign(0) tolerated(0.71) neutral(0.002) HMMPfam_7tm_1,superfamily_SSF81321 P2RY14 9934 genome.wustl.edu 37 3 150931579 150931579 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001081455.1 -1 reviewed p.K176Q 0.986 567 0% 342 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MED12L 116931 genome.wustl.edu 37 3 151067900 151067900 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_053002.4 +1 reviewed p.V733 0.593 190 0% 108 24.1% - - - - - NULL MED12L 116931 genome.wustl.edu 37 3 151085987 151085987 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_053002.4 +1 reviewed p.L1131 0.999 121 0% 105 60% - - - - - NULL IGSF10 285313 genome.wustl.edu 37 3 151155086 151155086 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178822.4 -1 validated p.E2421D 1.000 207 0% 151 25.8% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin IGSF10 285313 genome.wustl.edu 37 3 151163052 151163052 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178822.4 -1 validated p.N1573H 0.810 523 0% 343 49.3% - - benign(0.104) tolerated(0.31) neutral(0.035) NULL IGSF10 285313 genome.wustl.edu 37 3 151166896 151166896 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178822.4 -1 validated p.K291N 0.704 237 0% 157 53.5% - - probably_damaging(0.996) tolerated(0.16) deleterious(0.521) superfamily_L domain-like AADACL2 344752 genome.wustl.edu 37 3 151458473 151458473 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207365.3 +1 validated p.E60* 0.948 250 0% 136 54.4% - - - - - superfamily_alpha/beta-Hydrolases AADACL2 344752 genome.wustl.edu 37 3 151474933 151474933 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207365.3 +1 validated p.Y253H 1.000 285 0% 206 25.2% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Abhydrolase_3,superfamily_alpha/beta-Hydrolases MBNL1 4154 genome.wustl.edu 37 3 152132828 152132828 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207293.1 +1 validated p.K91N 1.000 237 0% 204 11.8% - - probably_damaging(0.989) tolerated(0.26) deleterious(0.474) NULL ARHGEF26 26084 genome.wustl.edu 37 3 153840537 153840537 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015595.3 +1 validated p.P252 0.732 39 0% 49 63.3% - - - - - NULL ARHGEF26 26084 genome.wustl.edu 37 3 153847442 153847442 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015595.3 +1 validated p.Q401 0.998 382 0% 257 26.1% - - - - - NULL GPR149 344758 genome.wustl.edu 37 3 154055923 154055923 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001038705.1 -1 provisional p.K587N 1.000 212 0% 227 54.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GPR149 344758 genome.wustl.edu 37 3 154146980 154146980 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001038705.1 -1 provisional p.T142K 0.000 62 0% 40 30% - - benign(0) tolerated(0.08) neutral(0.300) NULL MME 4311 genome.wustl.edu 37 3 154834335 154834335 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000902.3 +1 reviewed p.S142 0.528 237 0% 131 54.2% - - - - - "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" MME 4311 genome.wustl.edu 37 3 154836571 154836571 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000902.3 +1 reviewed p.Y231D 1.000 199 0% 95 25.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" MME 4311 genome.wustl.edu 37 3 154855939 154855939 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000902.3 +1 reviewed p.R257C 0.994 450 0.2% 326 27% - - probably_damaging(1) tolerated(0.05) deleterious(0.845) "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" PLCH1 23007 genome.wustl.edu 37 3 155241768 155241768 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130960.1 -1 validated p.G451E 1.000 410 0% 343 25.4% - - benign(0.378) tolerated(0.05) neutral(0.466) superfamily_PLC-like phosphodiesterases C3orf33 285315 genome.wustl.edu 37 3 155520326 155520326 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173657.1 -1 predicted p.R14* 0.998 569 0% 423 48.5% - - - - - NULL GMPS 8833 genome.wustl.edu 37 3 155611427 155611427 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003875.2 +1 reviewed p.V50M 1.000 223 0% 144 22.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GATase,superfamily_Class I glutamine amidotransferase-like GMPS 8833 genome.wustl.edu 37 3 155632326 155632326 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003875.2 +1 reviewed p.E335D 1.000 243 0% 117 26.5% - - benign(0.018) tolerated(0.19) neutral(0.050) superfamily_Adenine nucleotide alpha hydrolases-like GMPS 8833 genome.wustl.edu 37 3 155633955 155633955 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003875.2 +1 reviewed p.E396* 1.000 228 0% 182 50.5% - - - - - superfamily_Adenine nucleotide alpha hydrolases-like KCNAB1 7881 genome.wustl.edu 37 3 155861116 155861116 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003471.3 +1 reviewed p.G50E 0.092 101 0% 92 52.2% - - benign(0.102) deleterious(0) neutral(0.453) NULL SSR3 6747 genome.wustl.edu 37 3 156266748 156266748 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007107.2 -1 reviewed p.R102Q 1.000 504 0% 327 26% - - benign(0.172) tolerated(0.16) neutral(0.075) HMMPfam_TRAP-gamma MLF1 4291 genome.wustl.edu 37 3 158320683 158320683 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022443.3 +1 validated p.R219K 0.000 344 0% 201 32.3% - - benign(0.025) tolerated(0.84) neutral(0.002) NULL GFM1 85476 genome.wustl.edu 37 3 158364551 158364551 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024996.5 +1 reviewed p.I129 0.991 508 0% 316 24.1% - - - - - HMMPfam_GTP_EFTU,superfamily_SSF52540 GFM1 85476 genome.wustl.edu 37 3 158364697 158364697 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024996.5 +1 reviewed p.R178Q 1.000 239 0.4% 187 58.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GTP_EFTU,superfamily_SSF52540 GFM1 85476 genome.wustl.edu 37 3 158376800 158376800 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024996.5 +1 reviewed p.K391N 1.000 272 0% 147 53.1% - - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMPfam_GTP_EFTU_D2,superfamily_Translat_factor SCHIP1 29970 genome.wustl.edu 37 3 159605648 159605648 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014575.2 +1 provisional p.V383G 1.000 149 0% 100 52% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_SCHIP-1 IL12A 3592 genome.wustl.edu 37 3 159713299 159713299 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000882.2 +1 reviewed p.R239W 0.533 326 0% 226 60.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IL12,superfamily_4_helix_cytokine IFT80 57560 genome.wustl.edu 37 3 160018827 160018827 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020800.1 -1 validated p.L387F 1.000 104 0% 52 19.2% - - probably_damaging(0.983) deleterious(0.01) deleterious(0.835) superfamily_Cyt_cd1_haem_C SMC4 10051 genome.wustl.edu 37 3 160141267 160141267 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001002800.1 +1 validated p.R692C 1.000 187 0.5% 115 29.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_Smc hinge domain,superfamily_P-loop containing nucleoside triphosphate hydrolases SMC4 10051 genome.wustl.edu 37 3 160151484 160151484 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001002800.1 +1 validated p.R1252* 1.000 126 0.8% 90 43.3% - - - - - HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases ARL14 80117 genome.wustl.edu 37 3 160395186 160395186 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025047.2 +1 validated p.L18I 0.982 143 0% 94 19.1% - - benign(0.095) deleterious(0.05) neutral(0.352) HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases PPM1L 151742 genome.wustl.edu 37 3 160474348 160474348 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139245.2 +1 provisional p.K84N 1.000 183 0% 132 23.5% - - benign(0.019) tolerated(0.18) neutral(0.057) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain PPM1L 151742 genome.wustl.edu 37 3 160786805 160786805 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139245.2 +1 provisional p.R315* 0.998 149 0% 136 22.8% - - - - - HMMSmart_SM00331,HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C NMD3 51068 genome.wustl.edu 37 3 160958906 160958906 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015938.3 +1 provisional p.R276* 1.000 381 0% 324 47.5% - - - - - NULL OTOL1 131149 genome.wustl.edu 37 3 161221185 161221185 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080440.1 +1 provisional p.E297* 0.999 62 0% 40 42.5% - - - - - HMMPfam_Collagen SI 6476 genome.wustl.edu 37 3 164709991 164709991 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001041.3 -1 reviewed p.N1653D 0.956 270 0% 153 48.4% - - benign(0) tolerated(0.73) neutral(0.002) HMMPfam_Glyco_hydro_31 SI 6476 genome.wustl.edu 37 3 164710173 164710173 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001041.3 -1 reviewed p.E1618D 0.011 138 0% 79 51.9% - - benign(0) tolerated(1) - HMMPfam_Glyco_hydro_31 SI 6476 genome.wustl.edu 37 3 164730802 164730802 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001041.3 -1 reviewed p.I1343T 1.000 308 0% 231 16.5% - - possibly_damaging(0.897) deleterious(0.01) deleterious(0.760) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases SI 6476 genome.wustl.edu 37 3 164735407 164735407 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001041.3 -1 reviewed p.R1230C 1.000 162 0% 100 31% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases SI 6476 genome.wustl.edu 37 3 164737500 164737500 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001041.3 -1 reviewed p.R1105C 0.489 302 0% 217 55.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SI 6476 genome.wustl.edu 37 3 164758844 164758844 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001041.3 -1 reviewed p.L681 1.000 338 0% 165 47.3% - - - - - HMMPfam_Glyco_hydro_31 SI 6476 genome.wustl.edu 37 3 164783129 164783129 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001041.3 -1 reviewed p.E243* 1.000 158 0% 83 16.9% - - - - - NULL SLITRK3 22865 genome.wustl.edu 37 3 164905717 164905717 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014926.2 -1 validated p.E968K 1.000 281 0% 218 19.7% - - possibly_damaging(0.65) deleterious(0.02) deleterious(0.611) NULL SLITRK3 22865 genome.wustl.edu 37 3 164906171 164906171 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014926.2 -1 validated p.K816N 1.000 208 0% 167 16.2% - - probably_damaging(0.956) deleterious(0) deleterious(0.844) NULL SLITRK3 22865 genome.wustl.edu 37 3 164906571 164906571 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014926.2 -1 validated p.R683Q 0.961 96 0% 63 20.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SLITRK3 22865 genome.wustl.edu 37 3 164906620 164906620 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014926.2 -1 validated p.A667S 0.995 110 0% 66 16.7% - - benign(0.002) tolerated(1) - NULL BCHE 590 genome.wustl.edu 37 3 165547630 165547630 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000055.2 -1 reviewed p.L398I 0.003 153 0% 105 45.7% - - benign(0.001) tolerated(1) - HMMPfam_COesterase,superfamily_SSF53474 ZBBX 79740 genome.wustl.edu 37 3 167000074 167000074 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024687.2 -1 validated p.T697A 0.019 227 0% 153 52.3% - - benign(0.018) tolerated(1) neutral(0.001) NULL ZBBX 79740 genome.wustl.edu 37 3 167031821 167031821 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024687.2 -1 validated p.R453I 0.829 307 0% 173 45.1% - - benign(0.154) tolerated(0.19) neutral(0.063) NULL SERPINI2 5276 genome.wustl.edu 37 3 167159927 167159927 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006217.3 -1 reviewed p.E396 0.000 588 0% 418 23.4% - - - - - NULL LRRIQ4 344657 genome.wustl.edu 37 3 169540109 169540109 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080460.1 +1 provisional p.P134S 0.928 92 0% 88 26.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52058 LRRC31 79782 genome.wustl.edu 37 3 169569548 169569548 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024727.2 -1 validated p.L340I 1.000 359 0% 246 48% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_RNI-like SEC62 7095 genome.wustl.edu 37 3 169684627 169684627 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003262.3 +1 reviewed p.R6K 1.000 62 0% 53 52.8% - - possibly_damaging(0.496) tolerated(0.35) neutral(0.186) NULL SEC62 7095 genome.wustl.edu 37 3 169700996 169700996 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003262.3 +1 reviewed p.F168L 1.000 175 0% 93 49.5% - - benign(0.02) deleterious(0.05) neutral(0.346) HMMPfam_Sec62 PHC3 80012 genome.wustl.edu 37 3 169815159 169815159 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000484068 -1 known p.S115L 0.868 261 0% 239 50.6% - - - - - HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain PHC3 80012 genome.wustl.edu 37 3 169820611 169820611 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000484068 -1 known p.R26Q 0.825 153 0% 127 14.2% - - - - - NULL PHC3 80012 genome.wustl.edu 37 3 169820637 169820637 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024947.3 -1 validated p.R852C 1.000 153 0% 136 30.9% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL PHC3 80012 genome.wustl.edu 37 3 169890478 169890478 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024947.3 -1 validated p.R68Q 1.000 108 0% 99 51.5% - - possibly_damaging(0.939) deleterious(0) deleterious(0.829) NULL PRKCI 5584 genome.wustl.edu 37 3 169993030 169993030 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002740.5 +1 reviewed p.N220K 1.000 296 0% 166 27.1% - - benign(0) tolerated(0.7) neutral(0.002) NULL PRKCI 5584 genome.wustl.edu 37 3 170015162 170015162 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002740.5 +1 reviewed p.R523Q 1.000 317 0% 243 33.3% - - probably_damaging(0.996) deleterious(0.05) deleterious(0.807) HMMSmart_S_TK_X,superfamily_Kinase_like SKIL 6498 genome.wustl.edu 37 3 170078829 170078829 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005414.3 +1 validated p.R237Q 0.989 132 0% 169 12.4% - - possibly_damaging(0.549) tolerated(0.29) neutral(0.215) NULL SLC7A14 57709 genome.wustl.edu 37 3 170198389 170198389 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020949.2 -1 validated p.T561M 0.996 249 0% 224 17% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SLC7A14 57709 genome.wustl.edu 37 3 170216566 170216566 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020949.2 -1 validated p.L217F 1.000 203 0% 177 30.5% - - probably_damaging(0.998) tolerated(1) deleterious(0.474) HMMPfam_AA_permease EIF5A2 56648 genome.wustl.edu 37 3 170612149 170612149 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020390.5 -1 validated p.L112I 1.000 583 0% 414 16.7% - - possibly_damaging(0.511) tolerated(0.21) neutral(0.216) superfamily_Nucleic acid-binding proteins,HMMPfam_eIF-5a SLC2A2 6514 genome.wustl.edu 37 3 170716177 170716177 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000340.1 -1 reviewed p.F393L 0.000 43 0% 43 18.6% - - benign(0.001) tolerated(0.66) neutral(0.003) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter SLC2A2 6514 genome.wustl.edu 37 3 170732290 170732290 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000340.1 -1 reviewed p.F113L 0.998 364 0% 296 26.7% - - possibly_damaging(0.942) tolerated(0.09) deleterious(0.683) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter TNIK 23043 genome.wustl.edu 37 3 170784372 170784372 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015028.2 -1 validated p.T1284 1.000 184 0.5% 125 48.8% - - - - - HMMPfam_CNH,HMMSmart_SM00036 TNIK 23043 genome.wustl.edu 37 3 170784492 170784492 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015028.2 -1 validated p.V1244 1.000 216 0% 143 48.3% - - - - - HMMPfam_CNH,HMMSmart_SM00036 TNIK 23043 genome.wustl.edu 37 3 170789079 170789079 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015028.2 -1 validated p.A1161V 1.000 409 0% 179 44.1% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_CNH,HMMSmart_SM00036 TNIK 23043 genome.wustl.edu 37 3 170811697 170811697 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015028.2 -1 validated p.G884 0.972 314 0% 340 20.9% - - - - - NULL TNIK 23043 genome.wustl.edu 37 3 170828505 170828505 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015028.2 -1 validated p.R761Q 1.000 212 0% 156 21.8% - - possibly_damaging(0.902) deleterious(0.02) deleterious(0.740) NULL TNIK 23043 genome.wustl.edu 37 3 170906591 170906591 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015028.2 -1 validated p.R180Q 1.000 289 0.3% 177 31.1% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TMEM212 389177 genome.wustl.edu 37 3 171571594 171571594 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000334567 +1 known p.V166A 0.000 286 0% 211 46.9% - - benign(0.001) tolerated(0.46) neutral(0.012) NULL TMEM212 389177 genome.wustl.edu 37 3 171571641 171571641 + Splice_Site SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000334567 +1 known e3+1 0.165 179 0% 147 31.3% - - - - - - FNDC3B 64778 genome.wustl.edu 37 3 172065015 172065015 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135095.1 +1 validated p.S793Y 0.869 202 0% 172 18% - - benign(0.012) deleterious(0.01) neutral(0.406) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FNDC3B 64778 genome.wustl.edu 37 3 172070597 172070597 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135095.1 +1 validated p.F840S 1.000 116 0% 97 20.6% - - benign(0) deleterious(0.03) neutral(0.364) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III GHSR 2693 genome.wustl.edu 37 3 172165564 172165564 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198407.2 -1 reviewed p.V214M 1.000 41 0% 63 22.2% - - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NCEH1 57552 genome.wustl.edu 37 3 172351691 172351691 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000424772 -1 known p.S298L 0.000 300 0% 255 10.6% - - - - - superfamily_alpha/beta-Hydrolases NCEH1 57552 genome.wustl.edu 37 3 172365816 172365816 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020792.4 -1 validated p.S108Y 0.993 182 0% 128 52.3% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL ECT2 1894 genome.wustl.edu 37 3 172480549 172480549 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018098.4 +1 reviewed p.D289N 1.000 401 0% 270 19.3% - - benign(0.001) tolerated(0.42) neutral(0.014) HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain SPATA16 83893 genome.wustl.edu 37 3 172643217 172643217 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031955.5 -1 reviewed p.L383I 1.000 311 0.6% 180 23.9% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL NLGN1 22871 genome.wustl.edu 37 3 173993121 173993121 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014932.2 +1 reviewed p.G221 0.446 284 0% 171 44.4% - - - - - HMMPfam_COesterase,superfamily_SSF53474 NLGN1 22871 genome.wustl.edu 37 3 173996992 173996992 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014932.2 +1 reviewed p.D401Y 1.000 485 0% 368 23.9% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_COesterase,superfamily_SSF53474 PIK3CA 5290 genome.wustl.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A rs121913287 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006218.2 +1 reviewed p.R88Q 1.000 215 0% 100 52% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B MFN1 55669 genome.wustl.edu 37 3 179096177 179096177 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033540.2 +1 reviewed p.R460* 0.994 336 0% 223 53.8% - - - - - NULL USP13 8975 genome.wustl.edu 37 3 179426714 179426714 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003940.2 +1 validated p.V258 1.000 255 0% 193 28.5% - - - - - HMMPfam_zf-UBP,HMMSmart_ZnF_UBP USP13 8975 genome.wustl.edu 37 3 179460015 179460015 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003940.2 +1 validated p.D471N 1.000 193 0% 133 14.3% - - possibly_damaging(0.592) tolerated(0.06) deleterious(0.527) HMMPfam_UCH,superfamily_SSF54001 USP13 8975 genome.wustl.edu 37 3 179483592 179483592 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003940.2 +1 validated p.S790Y 1.000 305 0% 252 23.8% - - possibly_damaging(0.628) deleterious(0) deleterious(0.663) HMMPfam_UCH,superfamily_SSF54001 PEX5L 51555 genome.wustl.edu 37 3 179605499 179605499 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016559.1 -1 provisional p.S91L 1.000 456 0% 291 26.1% - - benign(0) deleterious(0.01) neutral(0.406) NULL TTC14 151613 genome.wustl.edu 37 3 180324151 180324151 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133462.3 +1 validated p.R347H 1.000 320 0% 223 53.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like TTC14 151613 genome.wustl.edu 37 3 180328076 180328076 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133462.3 +1 validated p.K687Q 0.529 191 0% 97 30.9% - - probably_damaging(0.991) tolerated(0.05) deleterious(0.789) NULL TTC14 151613 genome.wustl.edu 37 3 180328324 180328324 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133462.3 +1 validated p.K769N 1.000 27 0% 19 57.9% - - possibly_damaging(0.672) deleterious(0) deleterious(0.682) NULL ATP11B 23200 genome.wustl.edu 37 3 182554145 182554145 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014616.1 +1 validated p.R147* 1.000 342 0% 208 47.6% - - - - - HMMPfam_E1-E2_ATPase,superfamily_SSF81653 ATP11B 23200 genome.wustl.edu 37 3 182566330 182566330 + Missense_Mutation SNP G G A rs73177313 byCluster;by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014616.1 +1 validated p.R279Q 1.000 211 0% 79 32.9% - - probably_damaging(0.997) tolerated(0.42) deleterious(0.480) NULL MCF2L2 23101 genome.wustl.edu 37 3 182941975 182941975 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015078.2 -1 validated p.E707* 1.000 173 0% 130 23.8% - - - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) B3GNT5 84002 genome.wustl.edu 37 3 182988238 182988238 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032047.4 +1 reviewed p.F218V 0.998 347 0% 240 60% - - benign(0) deleterious(0.03) neutral(0.364) HMMPfam_Galactosyl_T KLHL6 89857 genome.wustl.edu 37 3 183210354 183210354 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_130446.2 -1 validated p.L498 0.580 405 0.2% 361 23.5% - - - - - HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central KLHL24 54800 genome.wustl.edu 37 3 183368322 183368322 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017644.3 +1 validated p.R60C 1.000 315 0.3% 259 16.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_POZ domain,HMMPfam_BTB KLHL24 54800 genome.wustl.edu 37 3 183368370 183368370 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017644.3 +1 validated p.E76* 1.000 355 0.3% 339 26.3% - - - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB ABCC5 10057 genome.wustl.edu 37 3 183643396 183643396 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005688.2 -1 reviewed p.R1387C 1.000 371 0% 344 28.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC5 10057 genome.wustl.edu 37 3 183669677 183669677 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005688.2 -1 reviewed p.L928M 0.999 189 0% 165 12.1% - - benign(0.37) tolerated(0.19) neutral(0.167) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC5 10057 genome.wustl.edu 37 3 183689509 183689509 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005688.2 -1 reviewed p.R535C 0.137 318 0% 308 31.2% - - benign(0.219) tolerated(0.05) neutral(0.367) superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain HTR3E 285242 genome.wustl.edu 37 3 183818400 183818400 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182589.2 +1 reviewed p.Q80 0.028 179 0% 186 31.2% - - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD HTR3E 285242 genome.wustl.edu 37 3 183822644 183822644 + Missense_Mutation SNP G G T rs7432287 byCluster TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182589.2 +1 reviewed p.K168N 0.427 199 0% 124 26.6% - - benign(0.002) tolerated(0.59) neutral(0.004) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD ECE2 9718 genome.wustl.edu 37 3 183975340 183975340 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014693.3 +1 validated p.V92 0.019 57 0% 81 19.8% - - - - - HMMPfam_Methyltransf_11,superfamily_S-adenosyl-L-methionine-dependent methyltransferases ECE2 9718 genome.wustl.edu 37 3 183995068 183995068 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014693.3 +1 validated p.A216T 1.000 194 0% 129 56.6% - - benign(0.148) tolerated(0.35) neutral(0.034) "superfamily_Metalloproteases (""zincins"") catalytic domain" ECE2 9718 genome.wustl.edu 37 3 184008593 184008593 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014693.3 +1 validated p.F711 0.881 211 0% 196 25.5% - - - - - "HMMPfam_Peptidase_M13,superfamily_Metalloproteases (""zincins"") catalytic domain" PSMD2 5708 genome.wustl.edu 37 3 184022093 184022093 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002808.3 +1 reviewed p.L485 1.000 508 0% 375 27.7% - - - - - HMMPfam_PC_rep,superfamily_ARM-type_fold PSMD2 5708 genome.wustl.edu 37 3 184025170 184025170 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002808.3 +1 reviewed p.R687Q 1.000 332 0% 242 48.8% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_ARM-type_fold EIF4G1 1981 genome.wustl.edu 37 3 184039155 184039155 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182917.3 +1 reviewed p.S261 0.997 83 0% 61 60.7% - - - - - NULL EIF4G1 1981 genome.wustl.edu 37 3 184039863 184039863 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182917.3 +1 reviewed p.Q497H 1.000 65 0% 43 48.8% - - probably_damaging(0.961) tolerated(0.38) neutral(0.422) NULL CLCN2 1181 genome.wustl.edu 37 3 184072044 184072044 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004366.4 -1 reviewed p.F522 1.000 61 0% 77 19.5% - - - - - HMMPfam_Voltage_CLC,superfamily_Clc chloride channel THPO 7066 genome.wustl.edu 37 3 184090770 184090770 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000353488 -1 known e6-2 1.000 296 0% 195 50.3% - - - - - - MAGEF1 64110 genome.wustl.edu 37 3 184428958 184428958 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022149.4 -1 reviewed p.F218V 0.028 101 0% 104 25% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MAGE VPS8 23355 genome.wustl.edu 37 3 184550556 184550556 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009921.2 +1 validated p.D101A 1.000 390 0% 317 54.9% - - possibly_damaging(0.902) tolerated(0.27) neutral(0.390) superfamily_WD40_like VPS8 23355 genome.wustl.edu 37 3 184689512 184689512 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009921.2 +1 validated p.S1131L 0.997 344 0% 201 24.4% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_ARM-type_fold EHHADH 1962 genome.wustl.edu 37 3 184910155 184910155 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001966.3 -1 reviewed p.E677D 1.000 263 0% 240 56.2% - - benign(0.009) tolerated(0.28) neutral(0.032) HMMPfam_3HCDH,superfamily_6DGDH_C_like MAP3K13 9175 genome.wustl.edu 37 3 185167750 185167750 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004721.3 +1 reviewed p.S358Y 1.000 194 0% 152 15.1% - - possibly_damaging(0.9) deleterious(0.04) deleterious(0.706) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MAP3K13 9175 genome.wustl.edu 37 3 185190872 185190872 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004721.3 +1 reviewed p.R585* 1.000 321 0% 250 25.2% - - - - - NULL SENP2 59343 genome.wustl.edu 37 3 185332471 185332471 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021627.2 +1 validated p.K351N 0.978 287 0% 161 13.7% - - probably_damaging(0.999) tolerated(0.1) deleterious(0.777) NULL DGKG 1608 genome.wustl.edu 37 3 185986618 185986618 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001346.2 -1 reviewed p.A363V 1.000 80 0% 65 58.5% - - benign(0.002) deleterious(0.04) neutral(0.349) HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain KNG1 3827 genome.wustl.edu 37 3 186445126 186445126 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001102416.2 +1 reviewed p.W222* 0.007 279 0% 194 29.4% - - - - - HMMPfam_Cystatin,HMMSmart_SM00043,superfamily_Cystatin/monellin KNG1 3827 genome.wustl.edu 37 3 186459434 186459434 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001102416.2 +1 reviewed p.R417W 0.217 240 0% 118 53.4% - - benign(0) tolerated(0.16) neutral(0.059) NULL RFC4 5984 genome.wustl.edu 37 3 186515334 186515334 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002916.3 -1 reviewed p.E94* 1.000 281 0% 134 23.1% - - - - - HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 RFC4 5984 genome.wustl.edu 37 3 186515394 186515394 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002916.3 -1 reviewed p.L74I 1.000 247 0% 112 54.5% - - possibly_damaging(0.874) deleterious(0) deleterious(0.784) HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 MASP1 5648 genome.wustl.edu 37 3 186937873 186937873 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001879.5 -1 reviewed p.G696R 0.000 254 0% 229 28.8% - - benign(0.002) deleterious(0) neutral(0.445) superfamily_Trypsin-like serine proteases MASP1 5648 genome.wustl.edu 37 3 186978570 186978570 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139125.3 -1 reviewed p.R169H 1.000 126 0% 198 29.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_EGF_CA,PatternScan_EGF_2,superfamily_SSF57196 RTP4 64108 genome.wustl.edu 37 3 187088868 187088868 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022147.2 +1 validated p.D150Y 0.979 114 0% 81 25.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL RTP2 344892 genome.wustl.edu 37 3 187416330 187416330 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004312.2 -1 validated p.V212I 0.012 219 0% 119 30.3% - - benign(0) tolerated(1) - NULL BCL6 604 genome.wustl.edu 37 3 187444578 187444578 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130845.1 -1 reviewed p.R550H 1.000 188 0% 164 51.2% - - probably_damaging(0.98) tolerated(0.09) deleterious(0.720) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TP63 8626 genome.wustl.edu 37 3 189526184 189526184 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003722.4 +1 reviewed p.A150T 1.000 331 0% 291 21.3% - - possibly_damaging(0.887) tolerated(0.14) deleterious(0.597) NULL CLDN1 9076 genome.wustl.edu 37 3 190027961 190027961 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021101.4 -1 validated p.A157V 1.000 231 0% 159 30.2% - - benign(0.008) tolerated(0.09) neutral(0.296) HMMPfam_PMP22_Claudin ATP13A4 84239 genome.wustl.edu 37 3 193176849 193176849 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000295548 -1 known p.E565D 0.009 113 0% 111 50.5% - - benign(0) tolerated(0.78) neutral(0.001) NULL LRRC15 131578 genome.wustl.edu 37 3 194080983 194080983 + Missense_Mutation SNP C C A rs13060627 byCluster;byFrequency;by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135057.2 -1 validated p.V270F 1.000 875 0.1% 610 52.6% - - benign(0.009) tolerated(0.06) neutral(0.323) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like LRRC15 131578 genome.wustl.edu 37 3 194081610 194081610 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135057.2 -1 validated p.A61T 0.974 73 0% 82 26.8% - - benign(0.038) tolerated(0.34) neutral(0.025) superfamily_L domain-like ACAP2 23527 genome.wustl.edu 37 3 195022857 195022857 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012287.5 -1 validated p.G388E 0.998 169 0% 164 55.5% - - benign(0.014) tolerated(0.22) neutral(0.043) NULL ACAP2 23527 genome.wustl.edu 37 3 195063364 195063364 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012287.5 -1 validated p.D122Y 1.000 446 0% 328 24.4% - - possibly_damaging(0.952) deleterious(0) deleterious(0.840) NULL PPP1R2 5504 genome.wustl.edu 37 3 195251617 195251617 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006241.4 -1 validated p.K103T 1.000 264 0% 193 28.5% - - possibly_damaging(0.915) deleterious(0.01) deleterious(0.772) HMMPfam_IPP-2 MUC4 4585 genome.wustl.edu 37 3 195477766 195477766 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018406.5 -1 reviewed p.T5161A 0.000 31 0% 45 26.7% - - unknown(0) tolerated(0.25) - NULL MUC4 4585 genome.wustl.edu 37 3 195507686 195507686 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018406.5 -1 reviewed p.D3461N 0.000 719 5.1% 357 21.8% - - possibly_damaging(0.509) - - NULL MUC4 4585 genome.wustl.edu 37 3 195513158 195513158 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018406.5 -1 reviewed p.D1765N 0.059 1384 0.9% 733 21.6% - - possibly_damaging(0.748) - - NULL MUC4 4585 genome.wustl.edu 37 3 195513590 195513590 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018406.5 -1 reviewed p.D1621N 0.000 1367 3% 690 19.6% - - possibly_damaging(0.748) - - NULL MUC4 4585 genome.wustl.edu 37 3 195517036 195517036 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018406.5 -1 reviewed p.S472Y 0.000 328 0.6% 258 30.6% - - possibly_damaging(0.901) deleterious(0.01) deleterious(0.762) NULL UBXN7 26043 genome.wustl.edu 37 3 196098832 196098832 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015562.1 -1 validated p.N184D 1.000 325 0% 259 25.9% - - probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMSmart_SM00594 FBXO45 200933 genome.wustl.edu 37 3 196304406 196304406 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105573.1 +1 validated p.R134Q 1.000 127 0% 79 55.7% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF81383 LRRC33 375387 genome.wustl.edu 37 3 196387102 196387102 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198565.1 +1 provisional p.I196 0.152 34 0% 41 56.1% - - - - - HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 PAK2 5062 genome.wustl.edu 37 3 196529948 196529948 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002577.4 +1 reviewed p.K117Q 1.000 273 0% 168 18.5% - - possibly_damaging(0.54) tolerated(0.38) neutral(0.201) HMMPfam_PBD SENP5 205564 genome.wustl.edu 37 3 196612754 196612754 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152699.4 +1 validated p.E234D 1.000 98 0% 80 21.2% - - possibly_damaging(0.808) deleterious(0) deleterious(0.748) NULL DLG1 1739 genome.wustl.edu 37 3 196842809 196842809 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004087.2 -1 validated p.R511S 1.000 236 0% 163 22.1% - - possibly_damaging(0.741) tolerated(0.15) deleterious(0.512) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like DLG1 1739 genome.wustl.edu 37 3 196869606 196869606 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004087.2 -1 validated p.E224* 1.000 301 0% 194 24.7% - - - - - HMMPfam_PDZ,superfamily_PDZ domain-like KIAA0226 9711 genome.wustl.edu 37 3 197431449 197431449 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145642.2 -1 validated p.L83F 1.000 108 0% 97 53.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00593 IQCG 84223 genome.wustl.edu 37 3 197618315 197618315 + Splice_Site SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134435.1 -1 validated e9+2 1.000 630 0% 510 29.6% - - - - - - IQCG 84223 genome.wustl.edu 37 3 197619579 197619579 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134435.1 -1 validated p.E339* 1.000 946 0% 904 51.1% - - - - - NULL RPL35A 6165 genome.wustl.edu 37 3 197678155 197678155 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000996.2 +1 reviewed p.R46I 1.000 331 0% 222 20.7% - - possibly_damaging(0.532) deleterious(0) deleterious(0.625) HMMPfam_Ribosomal_L35Ae ZNF732 654254 genome.wustl.edu 37 4 265027 265027 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001137608.1 -1 provisional p.R540I 0.002 224 0% 133 37.6% - - benign(0.084) tolerated(0.32) neutral(0.030) HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF732 654254 genome.wustl.edu 37 4 266364 266364 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001137608.1 -1 provisional p.S94 0.000 207 0% 97 36.1% - - - - - NULL ZNF732 654254 genome.wustl.edu 37 4 289914 289914 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001137608.1 -1 provisional p.E12* 0.131 334 0% 173 30.1% - - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF721 170960 genome.wustl.edu 37 4 435770 435770 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133474.2 -1 validated p.R829I 0.999 213 0% 144 13.2% - - benign(0.058) tolerated(0.35) neutral(0.024) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF721 170960 genome.wustl.edu 37 4 436636 436636 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133474.2 -1 validated p.Q540 0.000 164 0% 161 36.6% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF721 170960 genome.wustl.edu 37 4 436694 436694 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133474.2 -1 validated p.R521I 0.824 188 0% 163 34.4% - - benign(0.007) tolerated(0.23) neutral(0.042) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF721 170960 genome.wustl.edu 37 4 436992 436992 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133474.2 -1 validated p.R422C 0.192 418 0% 251 40.2% - - benign(0.007) tolerated(1) - superfamily_C2H2 and C2HC zinc fingers ZNF721 170960 genome.wustl.edu 37 4 437198 437198 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133474.2 -1 validated p.R353I 0.219 367 0% 268 11.2% - - benign(0.16) tolerated(0.2) neutral(0.064) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PIGG 54872 genome.wustl.edu 37 4 515606 515606 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127178.1 +1 validated p.S497L 0.022 636 0% 319 35.1% - - benign(0.014) deleterious(0.02) neutral(0.384) NULL PDE6B 5158 genome.wustl.edu 37 4 648636 648636 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000283.3 +1 reviewed p.I317 0.601 199 0% 155 38.1% - - - - - HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like PCGF3 10336 genome.wustl.edu 37 4 737366 737366 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006315.4 +1 reviewed p.R123W 1.000 213 0% 93 32.3% - - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL GAK 2580 genome.wustl.edu 37 4 870896 870896 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005255.2 -1 validated p.G652 0.755 75 0% 26 23.1% - - - - - superfamily_C2_CaLB,HMMPfam_PTEN_C2 GAK 2580 genome.wustl.edu 37 4 898502 898502 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005255.2 -1 validated p.K150E 1.000 111 0% 94 33% - - possibly_damaging(0.825) deleterious(0.03) deleterious(0.677) superfamily_Kinase_like,HMMPfam_Pkinase TMEM175 84286 genome.wustl.edu 37 4 951744 951744 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000505148 +1 known p.R162C 0.984 18 0% 25 24% - - - - - HMMPfam_DUF1211 FGFRL1 53834 genome.wustl.edu 37 4 1018893 1018893 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004356.2 +1 reviewed p.D425N 0.977 18 0% 16 37.5% - - possibly_damaging(0.88) tolerated(0.5) neutral(0.353) NULL CTBP1 1487 genome.wustl.edu 37 4 1209938 1209938 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000504092 -1 known p.L48I 0.997 78 0% 54 35.2% - - - - - HMMPfam_2-Hacid_dh_C,superfamily_NAD(P)-binding Rossmann-fold domains KIAA1530 57654 genome.wustl.edu 37 4 1341887 1341887 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020894.2 +1 validated p.Q3R 0.983 152 0% 75 36% - - probably_damaging(0.98) deleterious(0.02) deleterious(0.807) NULL TACC3 10460 genome.wustl.edu 37 4 1739034 1739034 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006342.1 +1 reviewed p.F605L 0.113 333 0% 153 35.3% - - benign(0.235) tolerated(1) neutral(0.024) NULL FGFR3 2261 genome.wustl.edu 37 4 1806134 1806134 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000142.4 +1 reviewed p.L385M 1.000 152 0% 127 29.1% - - possibly_damaging(0.867) tolerated(0.12) deleterious(0.597) NULL LETM1 3954 genome.wustl.edu 37 4 1827346 1827346 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012318.2 -1 reviewed p.R382Q 1.000 51 0% 48 10.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LETM1 POLN 353497 genome.wustl.edu 37 4 2210162 2210162 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181808.2 -1 validated p.P89H 0.002 77 0% 38 28.9% - - possibly_damaging(0.46) deleterious(0.01) deleterious(0.556) NULL FAM193A 8603 genome.wustl.edu 37 4 2691399 2691399 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003704.3 +1 validated p.N542S 1.000 218 0% 140 34.3% - - probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL SH3BP2 6452 genome.wustl.edu 37 4 2826874 2826874 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001122681.1 +1 reviewed p.R127G 0.993 92 0% 62 35.5% - - possibly_damaging(0.816) deleterious(0.01) deleterious(0.714) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SH3BP2 6452 genome.wustl.edu 37 4 2833311 2833311 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001122681.1 +1 reviewed p.D419N 0.998 57 0% 39 28.2% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL HTT 3064 genome.wustl.edu 37 4 3101000 3101000 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002111.6 +1 reviewed e3-1 1.000 223 0% 150 28.7% - - - - - - HGFAC 3083 genome.wustl.edu 37 4 3446586 3446586 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001528.2 +1 reviewed p.Y294* 0.996 14 0% 11 63.6% - - - - - HMMPfam_Kringle,HMMSmart_KR,superfamily_Kringle-like DOK7 285489 genome.wustl.edu 37 4 3494962 3494962 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173660.4 +1 reviewed p.D417Y 0.686 10 0% 13 53.8% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL OTOP1 133060 genome.wustl.edu 37 4 4199295 4199295 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_177998.1 -1 provisional p.T422 1.000 163 0% 72 20.8% - - - - - HMMPfam_DUF270 TMEM128 85013 genome.wustl.edu 37 4 4242176 4242176 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032927.2 -1 provisional p.L66 0.000 218 0% 98 23.5% - - - - - NULL STK32B 55351 genome.wustl.edu 37 4 5053599 5053599 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018401.1 +1 provisional p.G3 0.999 88 0% 59 37.3% - - - - - NULL EVC2 132884 genome.wustl.edu 37 4 5566994 5566994 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_147127.4 -1 reviewed p.R1217I 0.932 364 0% 234 19.2% - - possibly_damaging(0.924) deleterious(0.01) deleterious(0.778) NULL EVC2 132884 genome.wustl.edu 37 4 5570209 5570209 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_147127.4 -1 reviewed p.S1173 0.000 31 0% 24 41.7% - - - - - NULL CRMP1 1400 genome.wustl.edu 37 4 5843053 5843053 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001014809.1 -1 reviewed p.A379T 0.127 167 0.6% 130 40% - - benign(0.006) tolerated(0.16) neutral(0.059) HMMPfam_Amidohydro_1,superfamily_Metalo_hydrolase,superfamily_SSF51556 JAKMIP1 152789 genome.wustl.edu 37 4 6031507 6031507 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099433.1 -1 validated p.R794I 1.000 431 0% 254 33.9% - - possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL JAKMIP1 152789 genome.wustl.edu 37 4 6050642 6050642 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099433.1 -1 validated p.R657I 1.000 326 0% 158 32.9% - - benign(0.418) deleterious(0.04) deleterious(0.484) NULL JAKMIP1 152789 genome.wustl.edu 37 4 6087177 6087177 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099433.1 -1 validated p.I268 0.008 125 0% 66 54.5% - - - - - NULL WFS1 7466 genome.wustl.edu 37 4 6304042 6304042 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006005.3 +1 reviewed p.F840 1.000 14 0% 24 54.2% - - - - - NULL PPP2R2C 5522 genome.wustl.edu 37 4 6377629 6377629 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020416.3 -1 reviewed p.E122K 0.993 386 0.3% 196 29.6% - - probably_damaging(0.972) deleterious(0) deleterious(0.859) superfamily_WD40 repeat-like,HMMPfam_PP2A_B_N MAN2B2 23324 genome.wustl.edu 37 4 6612845 6612845 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000505907 +1 known p.S800L 0.002 91 0% 72 33.3% - - - - - superfamily_Galactose mutarotase-like,HMMPfam_Glyco_hydro_38C MRFAP1L1 114932 genome.wustl.edu 37 4 6711021 6711021 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_203462.2 -1 validated p.E112 0.997 169 0% 105 32.4% - - - - - NULL KIAA0232 9778 genome.wustl.edu 37 4 6864664 6864664 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001100590.1 +1 validated p.S852L 0.853 99 0% 40 35% - - benign(0.047) tolerated(0.07) neutral(0.322) NULL CCDC96 257236 genome.wustl.edu 37 4 7043144 7043144 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153376.2 -1 validated p.L508I 1.000 188 0% 110 42.7% - - probably_damaging(0.958) tolerated(0.18) neutral(0.458) NULL SORCS2 57537 genome.wustl.edu 37 4 7716052 7716052 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020777.2 +1 reviewed p.S692L 0.458 127 0% 79 32.9% - - possibly_damaging(0.952) tolerated(0.07) deleterious(0.715) HMMSmart_SM00602 AFAP1 60312 genome.wustl.edu 37 4 7840265 7840265 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134647.1 -1 reviewed p.E238K 1.000 287 0.3% 177 43.5% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like MIR95 407052 genome.wustl.edu 37 4 8007032 8007032 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000385072 -1 known NULL 1.000 71 0% 62 14.5% - - - - - - CPZ 8532 genome.wustl.edu 37 4 8613888 8613888 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001014447.1 +1 reviewed p.G454 1.000 117 0% 48 16.7% - - - - - HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases SLC2A9 56606 genome.wustl.edu 37 4 9828135 9828135 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020041.2 -1 reviewed p.K503 0.996 370 0% 215 34.9% - - - - - HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter WDR1 9948 genome.wustl.edu 37 4 10089430 10089430 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000443592 -1 known p.A136V 1.000 109 0% 70 41.4% - - possibly_damaging(0.753) deleterious(0) deleterious(0.721) NULL ZNF518B 85460 genome.wustl.edu 37 4 10447440 10447440 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_053042.2 -1 validated p.S171 0.560 310 0% 176 36.9% - - - - - HMMSmart_ZnF_C2H2 RAB28 9364 genome.wustl.edu 37 4 13371494 13371494 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004249.3 -1 reviewed e7+1 1.000 554 0% 249 39.4% - - - - - - RAB28 9364 genome.wustl.edu 37 4 13462378 13462378 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000511649 -1 known p.E35* 1.000 253 0% 114 43.9% - - unknown(0) deleterious(0.02) - HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases BOD1L 259282 genome.wustl.edu 37 4 13578611 13578611 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000507943 -1 known p.P72H 0.998 572 0% 263 35.7% - - - - - NULL BOD1L 259282 genome.wustl.edu 37 4 13600954 13600954 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_148894.2 -1 validated p.R2524C 0.000 188 0% 125 32% - - possibly_damaging(0.825) deleterious(0.01) deleterious(0.718) NULL BOD1L 259282 genome.wustl.edu 37 4 13603347 13603347 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_148894.2 -1 validated p.T1726N 0.996 379 0% 247 35.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81995 BOD1L 259282 genome.wustl.edu 37 4 13605020 13605020 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_148894.2 -1 validated p.R1168S 0.006 176 0% 110 35.5% - - benign(0.318) deleterious(0.01) deleterious(0.505) superfamily_SSF81995 BOD1L 259282 genome.wustl.edu 37 4 13605994 13605994 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_148894.2 -1 validated p.R844 1.000 679 0% 335 32.8% - - - - - superfamily_SSF81995 CC2D2A 57545 genome.wustl.edu 37 4 15480407 15480407 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080522.2 +1 reviewed p.R34* 0.000 294 0% 144 37.5% - - - - - NULL BST1 683 genome.wustl.edu 37 4 15713434 15713434 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000505785 +1 known p.S48L 0.069 269 0% 146 45.2% - - - - - HMMPfam_Rib_hydrolayse,superfamily_ADP ribosyl cyclase-like FGFBP2 83888 genome.wustl.edu 37 4 15964239 15964239 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031950.3 -1 reviewed p.L172M 0.000 165 0% 110 11.8% - - possibly_damaging(0.664) tolerated(0.1) deleterious(0.521) HMMPfam_FGF-BP1 PROM1 8842 genome.wustl.edu 37 4 16035049 16035049 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006017.2 -1 reviewed p.F129L 1.000 324 0% 132 17.4% - - benign(0.017) tolerated(1) neutral(0.001) HMMPfam_Prominin CLRN2 645104 genome.wustl.edu 37 4 17528448 17528448 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079827.2 +1 reviewed p.V148M 0.732 181 0% 133 35.3% - - benign(0.163) deleterious(0.05) neutral(0.360) NULL LAP3 51056 genome.wustl.edu 37 4 17581474 17581474 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015907.2 +1 validated p.E44* 1.000 643 0% 261 33.3% - - - - - HMMPfam_Peptidase_M17_N,superfamily_Macro domain-like LAP3 51056 genome.wustl.edu 37 4 17609065 17609065 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015907.2 +1 validated p.F471 0.999 241 0% 141 22.7% - - - - - HMMPfam_Peptidase_M17,superfamily_Zn-dependent exopeptidases FAM184B 27146 genome.wustl.edu 37 4 17634215 17634215 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015688.1 -1 validated p.E1041D 0.903 452 0% 230 24.3% - - benign(0.296) tolerated(0.47) neutral(0.102) NULL NCAPG 64151 genome.wustl.edu 37 4 17819656 17819656 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022346.3 +1 validated p.E355* 1.000 421 0% 227 33.9% - - - - - superfamily_ARM-type_fold NCAPG 64151 genome.wustl.edu 37 4 17827032 17827032 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022346.3 +1 validated p.E501K 1.000 101 0% 27 37% - - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) superfamily_ARM-type_fold NCAPG 64151 genome.wustl.edu 37 4 17844978 17844978 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022346.3 +1 validated p.R993Q 1.000 279 0% 93 38.7% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL SLIT2 9353 genome.wustl.edu 37 4 20255463 20255463 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004787.1 +1 provisional p.L9 1.000 36 0% 30 43.3% - - - - - NULL SLIT2 9353 genome.wustl.edu 37 4 20570582 20570582 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004787.1 +1 provisional p.D1015N 1.000 446 0% 189 30.7% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00274,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin GPR125 166647 genome.wustl.edu 37 4 22446630 22446630 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145290.2 -1 validated p.P224 0.877 387 0% 206 33% - - - - - HMMPfam_LRRCT,HMMSmart_SM00082,superfamily_L domain-like DHX15 1665 genome.wustl.edu 37 4 24578046 24578046 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001358.2 -1 reviewed p.T109 0.545 727 0% 428 36.4% - - - - - NULL LGI2 55203 genome.wustl.edu 37 4 25005628 25005628 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018176.3 -1 validated p.F361L 1.000 178 0% 124 10.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_EPTP ZCCHC4 29063 genome.wustl.edu 37 4 25363527 25363527 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024936.2 +1 validated p.R353Q 1.000 206 0% 94 33% - - probably_damaging(0.995) tolerated(0.07) deleterious(0.776) NULL ZCCHC4 29063 genome.wustl.edu 37 4 25366692 25366692 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024936.2 +1 validated p.S437Y 0.998 454 0.2% 262 37% - - possibly_damaging(0.648) deleterious(0.01) deleterious(0.633) NULL CCKAR 886 genome.wustl.edu 37 4 26483623 26483623 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000730.2 -1 reviewed p.K308N 1.000 207 0% 145 40% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TBC1D19 55296 genome.wustl.edu 37 4 26616040 26616040 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018317.2 +1 validated p.K61N 1.000 409 0% 162 29.6% - - benign(0.025) tolerated(0.27) neutral(0.035) NULL STIM2 57620 genome.wustl.edu 37 4 27004572 27004572 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020860.3 +1 reviewed p.N363I 1.000 215 0% 85 27.1% - - probably_damaging(0.99) tolerated(0.31) deleterious(0.469) NULL ARAP2 116984 genome.wustl.edu 37 4 36069539 36069539 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015230.2 -1 reviewed p.I1702S 0.000 151 0% 70 48.6% - - benign(0.016) tolerated(0.26) neutral(0.035) NULL ARAP2 116984 genome.wustl.edu 37 4 36081837 36081837 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015230.2 -1 reviewed e30+1 1.000 200 0% 60 31.7% - - - - - - ARAP2 116984 genome.wustl.edu 37 4 36150117 36150117 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015230.2 -1 reviewed p.I970 1.000 380 0% 140 31.4% - - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ARAP2 116984 genome.wustl.edu 37 4 36162190 36162190 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015230.2 -1 reviewed p.H778R 1.000 158 0% 72 29.2% - - benign(0.019) tolerated(0.28) neutral(0.033) HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain DTHD1 401124 genome.wustl.edu 37 4 36296529 36296529 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136536.3 +1 validated p.P214H 0.428 494 0% 271 34.7% - - benign(0.01) tolerated(0.24) neutral(0.038) NULL DTHD1 401124 genome.wustl.edu 37 4 36307884 36307884 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136536.3 +1 validated p.S282I 0.994 434 0% 198 34.3% - - probably_damaging(0.963) deleterious(0.03) deleterious(0.770) NULL KIAA1239 57495 genome.wustl.edu 37 4 37446088 37446088 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144990.1 +1 validated p.I826 1.000 163 0% 105 22.9% - - - - - NULL KIAA1239 57495 genome.wustl.edu 37 4 37446428 37446428 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144990.1 +1 validated p.P940S 1.000 220 0% 87 13.8% - - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) NULL KIAA1239 57495 genome.wustl.edu 37 4 37446732 37446732 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144990.1 +1 validated p.S1041Y 1.000 276 0% 217 40.1% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_WD40_like KIAA1239 57495 genome.wustl.edu 37 4 37447888 37447888 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144990.1 +1 validated p.L1426 0.988 57 0% 33 33.3% - - - - - superfamily_WD40_like PGM2 55276 genome.wustl.edu 37 4 37851926 37851926 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018290.3 +1 validated p.K512E 0.997 140 0% 68 32.4% - - benign(0) tolerated(1) - superfamily_SSF55957 TBC1D1 23216 genome.wustl.edu 37 4 38016479 38016479 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015173.2 +1 validated p.R256Q 0.058 52 0% 26 23.1% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like TLR10 81793 genome.wustl.edu 37 4 38775052 38775052 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017388.1 -1 reviewed p.E720D 0.013 263 0.4% 151 41.7% - - benign(0) tolerated(0.06) neutral(0.323) HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR TLR10 81793 genome.wustl.edu 37 4 38775804 38775804 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017388.1 -1 reviewed p.E470* 0.975 114 0% 56 33.9% - - - - - HMMPfam_LRR_1,superfamily_SSF52058 TLR10 81793 genome.wustl.edu 37 4 38776959 38776959 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017388.1 -1 reviewed p.Q85K 0.366 200 0% 117 35.9% - - possibly_damaging(0.8) deleterious(0.01) deleterious(0.707) superfamily_SSF52058 TLR1 7096 genome.wustl.edu 37 4 38798795 38798795 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003263.3 -1 reviewed p.S553Y 0.412 404 0% 253 37.9% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_LRRCT,HMMSmart_SM00082,superfamily_L domain-like FAM114A1 92689 genome.wustl.edu 37 4 38933985 38933985 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138389.2 +1 validated p.V485I 1.000 171 0% 63 23.8% - - benign(0.079) tolerated(0.51) neutral(0.014) NULL FAM114A1 92689 genome.wustl.edu 37 4 38937390 38937390 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138389.2 +1 validated p.T505 0.016 377 0% 157 29.3% - - - - - NULL TMEM156 80008 genome.wustl.edu 37 4 38995490 38995490 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024943.1 -1 provisional p.N163H 0.000 450 0% 248 35.9% - - probably_damaging(0.977) tolerated(0.19) neutral(0.468) NULL WDR19 57728 genome.wustl.edu 37 4 39230162 39230162 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025132.3 +1 reviewed p.L612 1.000 273 0% 137 38% - - - - - NULL WDR19 57728 genome.wustl.edu 37 4 39236493 39236493 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025132.3 +1 reviewed p.F787 1.000 164 0% 117 38.5% - - - - - superfamily_TPR-like RFC1 5981 genome.wustl.edu 37 4 39310281 39310281 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002913.3 -1 reviewed p.K620N 1.000 313 0% 201 38.8% - - benign(0.058) tolerated(0.17) neutral(0.062) superfamily_SSF52540 KLB 152831 genome.wustl.edu 37 4 39436111 39436111 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175737.3 +1 validated p.F369L 1.000 236 0% 136 41.2% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat N4BP2 55728 genome.wustl.edu 37 4 40133420 40133420 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018177.3 +1 reviewed e11-1 1.000 195 0% 107 36.4% - - - - - - N4BP2 55728 genome.wustl.edu 37 4 40146329 40146329 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000513269 +1 known p.A1314T 0.995 253 0% 202 46% - - - - - NULL APBB2 323 genome.wustl.edu 37 4 40892410 40892410 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000513611 -1 known p.R469C 0.350 49 0% 27 22.2% - - - - - HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like TMEM33 55161 genome.wustl.edu 37 4 41945832 41945832 + Splice_Site SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018126.2 +1 validated e4+1 1.000 629 0% 398 33.9% - - - - - - BEND4 389206 genome.wustl.edu 37 4 42119571 42119571 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207406.3 -1 validated p.V523 1.000 114 0% 80 13.8% - - - - - NULL BEND4 389206 genome.wustl.edu 37 4 42122245 42122245 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207406.3 -1 validated p.N405H 1.000 279 0% 180 30% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL BEND4 389206 genome.wustl.edu 37 4 42145526 42145526 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207406.3 -1 validated p.R325* 1.000 256 0% 174 40.2% - - - - - NULL GUF1 60558 genome.wustl.edu 37 4 44682859 44682859 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021927.2 +1 validated p.P142 0.486 214 0% 87 44.8% - - - - - HMMPfam_GTP_EFTU,superfamily_SSF52540 GABRA2 2555 genome.wustl.edu 37 4 46305504 46305504 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000807.2 -1 reviewed p.E277* 1.000 341 0% 163 35.6% - - - - - HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore GABRA2 2555 genome.wustl.edu 37 4 46314665 46314665 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000807.2 -1 reviewed p.M108I 1.000 220 0% 74 36.5% - - possibly_damaging(0.917) tolerated(0.67) neutral(0.370) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like GABRA4 2557 genome.wustl.edu 37 4 46930352 46930352 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000809.2 -1 reviewed p.D519Y 1.000 258 0% 90 36.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRA4 2557 genome.wustl.edu 37 4 46930480 46930480 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000809.2 -1 reviewed p.R476H 0.011 229 0% 137 47.4% - - benign(0.002) tolerated(0.25) neutral(0.037) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRA4 2557 genome.wustl.edu 37 4 46994927 46994927 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000508560 -1 known p.E19* 1.000 290 0% 152 30.9% - - - - - NULL ATP10D 57205 genome.wustl.edu 37 4 47514781 47514781 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020453.3 +1 validated p.R75Q 0.991 215 0% 127 35.4% - - possibly_damaging(0.727) tolerated(0.06) deleterious(0.587) NULL ATP10D 57205 genome.wustl.edu 37 4 47556863 47556863 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020453.3 +1 validated p.D586N 1.000 243 0% 136 21.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HAD-like CORIN 10699 genome.wustl.edu 37 4 47644968 47644968 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000504584 -1 known p.L718I 0.000 17 0% 10 60% - - unknown(0) - - NULL NFXL1 152518 genome.wustl.edu 37 4 47916107 47916107 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152995.4 -1 validated p.E38 0.229 21 0% 10 60% - - - - - NULL TEC 7006 genome.wustl.edu 37 4 48169833 48169833 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003215.2 -1 reviewed p.K211N 1.000 611 0% 321 35.2% - - benign(0.364) tolerated(0.18) neutral(0.172) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,superfamily_SH2 domain SLAIN2 57606 genome.wustl.edu 37 4 48422245 48422245 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000510595 +1 known p.P97S 0.993 425 0% 249 37.8% - - - - - NULL FRYL 285527 genome.wustl.edu 37 4 48548278 48548278 + Silent SNP G G A rs190026204 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000514617 -1 known p.R565* 0.007 221 0% 78 21.8% - - - - - NULL FRYL 285527 genome.wustl.edu 37 4 48581084 48581084 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015030.1 -1 validated p.E812* 1.000 321 0% 161 11.8% - - - - - superfamily_ARM repeat FRYL 285527 genome.wustl.edu 37 4 48588675 48588675 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015030.1 -1 validated p.G571S 1.000 420 0% 176 25.6% - - benign(0.103) tolerated(0.13) neutral(0.261) superfamily_ARM repeat FRYL 285527 genome.wustl.edu 37 4 48611819 48611819 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015030.1 -1 validated p.D145N 1.000 264 0% 104 24% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) superfamily_ARM repeat CWH43 80157 genome.wustl.edu 37 4 48990562 48990562 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025087.2 +1 validated p.E38* 0.078 414 0% 255 15.7% - - - - - NULL LRRC66 339977 genome.wustl.edu 37 4 52864054 52864054 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001024611.1 -1 provisional p.I239T 0.000 398 0% 193 39.4% - - benign(0.032) tolerated(0.63) neutral(0.005) superfamily_SSF52058 SGCB 6443 genome.wustl.edu 37 4 52895948 52895948 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000232.4 -1 reviewed p.R109* 1.000 243 0% 129 10.1% - - - - - HMMPfam_Sarcoglycan_1 SPATA18 132671 genome.wustl.edu 37 4 52926592 52926592 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145263.2 +1 provisional p.T32M 0.998 182 0.5% 93 28% - - possibly_damaging(0.438) deleterious(0) deleterious(0.588) NULL SPATA18 132671 genome.wustl.edu 37 4 52938265 52938265 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145263.2 +1 provisional p.R234Q 0.002 132 0% 81 40.7% - - benign(0.025) tolerated(0.26) neutral(0.035) NULL SPATA18 132671 genome.wustl.edu 37 4 52945942 52945942 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145263.2 +1 provisional p.K404N 1.000 336 0% 186 40.3% - - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL LOC100288413 100288413 genome.wustl.edu 37 4 53610159 53610159 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342451.1 -1 model p.R510H 0.000 332 0% 149 43.6% - - - - - NULL SCFD2 152579 genome.wustl.edu 37 4 53751965 53751965 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152540.3 -1 validated p.S637 0.277 190 0% 135 39.3% - - - - - HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins LOC100130982 100130982 genome.wustl.edu 37 4 54244123 54244123 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001714018.1 -1 model p.E102* 0.011 171 0% 117 34.2% - - - - - NULL LNX1 84708 genome.wustl.edu 37 4 54364868 54364868 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001126328.1 -1 reviewed p.I306M 1.000 137 0% 79 36.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like PDGFRA 5156 genome.wustl.edu 37 4 55133488 55133488 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006206.4 +1 reviewed p.I264 0.994 242 0% 120 34.2% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PDGFRA 5156 genome.wustl.edu 37 4 55151576 55151576 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006206.4 +1 reviewed p.E788* 1.000 254 0% 111 39.6% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) KIT 3815 genome.wustl.edu 37 4 55589821 55589821 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000222.2 +1 reviewed p.E435K 0.997 262 0% 225 32% - - benign(0) tolerated(0.09) neutral(0.296) NULL KDR 3791 genome.wustl.edu 37 4 55955594 55955594 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002253.2 -1 reviewed p.R1117 0.970 376 0% 187 16% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like KDR 3791 genome.wustl.edu 37 4 55980393 55980393 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002253.2 -1 reviewed p.G233E 0.000 220 0% 136 40.4% - - benign(0) tolerated(1) - HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 SRD5A3 79644 genome.wustl.edu 37 4 56225634 56225634 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024592.3 +1 validated p.L115I 0.973 497 0% 264 37.5% - - benign(0.296) deleterious(0.02) deleterious(0.475) NULL TMEM165 55858 genome.wustl.edu 37 4 56277958 56277958 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018475.3 +1 validated p.V129M 0.995 200 0% 153 38.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UPF0016 CLOCK 9575 genome.wustl.edu 37 4 56348918 56348918 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004898.2 -1 reviewed p.S12L 0.999 191 0% 111 29.7% - - possibly_damaging(0.905) deleterious(0) deleterious(0.804) NULL EXOC1 55763 genome.wustl.edu 37 4 56750054 56750054 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001024924.1 +1 reviewed p.K430N 1.000 239 0% 68 23.5% - - probably_damaging(0.955) deleterious(0) deleterious(0.843) HMMPfam_Sec3 CEP135 9662 genome.wustl.edu 37 4 56831971 56831971 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025009.3 +1 validated p.E330D 1.000 303 0% 114 36% - - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL CEP135 9662 genome.wustl.edu 37 4 56877994 56877994 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025009.3 +1 validated p.R882I 1.000 111 0% 42 26.2% - - possibly_damaging(0.449) deleterious(0.02) deleterious(0.530) superfamily_Prefoldin KIAA1211 57482 genome.wustl.edu 37 4 57182119 57182119 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020722.1 +1 validated p.T817 0.000 116 0% 63 38.1% - - - - - NULL AASDH 132949 genome.wustl.edu 37 4 57215480 57215480 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181806.2 -1 validated p.R813* 1.000 225 0.4% 119 31.1% - - - - - superfamily_Quinoprotein alcohol dehydrogenase-like AASDH 132949 genome.wustl.edu 37 4 57220220 57220220 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181806.2 -1 validated p.I456 0.981 249 0% 127 37% - - - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like PAICS 10606 genome.wustl.edu 37 4 57314966 57314966 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079525.1 +1 reviewed p.R229* 1.000 189 0% 103 37.9% - - - - - HMMPfam_SAICAR_synt,superfamily_SAICAR synthase-like SRP72 6731 genome.wustl.edu 37 4 57349352 57349352 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006947.3 +1 validated p.A291 0.969 291 0% 136 33.8% - - - - - NULL REST 5978 genome.wustl.edu 37 4 57777484 57777484 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005612.3 +1 reviewed p.R227Q 0.993 133 0% 105 30.5% - - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMSmart_ZnF_C2H2 POLR2B 5431 genome.wustl.edu 37 4 57896453 57896453 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000938.1 +1 reviewed p.F1108C 1.000 370 0% 201 36.8% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_RNA_pol_Rpb2_7,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase IGFBP7 3490 genome.wustl.edu 37 4 57976267 57976267 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001553.1 -1 provisional p.G84V 1.000 4 0.000 9 0.444 - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IB LPHN3 23284 genome.wustl.edu 37 4 62800579 62800579 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015236.4 +1 reviewed p.N644D 1.000 218 0% 118 38.1% - - benign(0.047) deleterious(0) neutral(0.448) superfamily_Family A G protein-coupled receptor-like LPHN3 23284 genome.wustl.edu 37 4 62849100 62849100 + Splice_Site SNP G G T rs61732946 byFrequency TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015236.4 +1 reviewed e16-1 1.000 647 0.2% 350 15.1% - - - - - - LOC644578 644578 genome.wustl.edu 37 4 64216511 64216511 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_927694.2 +1 model p.E282K 0.985 112 0% 48 47.9% - - - - - "HMMSmart_SM00715,superfamily_""Winged helix"" DNA-binding domain" CENPC1 1060 genome.wustl.edu 37 4 68384938 68384938 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001812.2 -1 reviewed p.K205T 1.000 149 0% 92 16.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL STAP1 26228 genome.wustl.edu 37 4 68441174 68441174 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012108.2 +1 reviewed p.A88 1.000 418 0% 212 34% - - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like TMPRSS11D 9407 genome.wustl.edu 37 4 68719799 68719799 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004262.2 -1 reviewed p.R79I 0.001 315 0% 113 33.6% - - probably_damaging(0.979) tolerated(0.26) neutral(0.456) HMMPfam_SEA,HMMSmart_SEA,superfamily_SSF82671 TMPRSS11F 389208 genome.wustl.edu 37 4 68930434 68930434 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207407.2 -1 validated p.F328 0.998 117 0% 65 41.5% - - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys TMPRSS11F 389208 genome.wustl.edu 37 4 68938097 68938097 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207407.2 -1 validated p.S153I 0.325 278 0% 125 30.4% - - benign(0.139) tolerated(0.22) neutral(0.054) HMMPfam_SEA,HMMSmart_SEA,superfamily_SSF82671 TMPRSS11B 132724 genome.wustl.edu 37 4 69107502 69107502 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182502.3 -1 validated p.R10I 0.000 244 0% 77 29.9% - - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL YTHDC1 91746 genome.wustl.edu 37 4 69203167 69203167 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031732.2 -1 validated p.R154I 1.000 252 0% 224 38.4% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL YTHDC1 91746 genome.wustl.edu 37 4 69203379 69203379 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031732.2 -1 validated p.E124* 1.000 548 0% 263 33.1% - - - - - NULL TMPRSS11E 28983 genome.wustl.edu 37 4 69344587 69344587 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014058.3 +1 validated p.R330* 1.000 180 0% 93 28% - - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys UGT2B17 7367 genome.wustl.edu 37 4 69403615 69403615 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077.3 -1 reviewed p.E441* 1.000 115 0% 63 65.1% - - - - - HMMPfam_UDPGT,superfamily_SSF53756 UGT2B10 7365 genome.wustl.edu 37 4 69682424 69682424 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001075.4 +1 validated p.K229N 0.032 250 0% 106 34% - - benign(0.005) tolerated(0.15) neutral(0.241) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B10 7365 genome.wustl.edu 37 4 69693266 69693266 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001075.4 +1 validated p.S436L 0.930 524 0% 276 34.1% - - benign(0.006) tolerated(0.12) neutral(0.261) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B10 7365 genome.wustl.edu 37 4 69696586 69696586 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001075.4 +1 validated p.K526Q 0.022 976 0% 474 36.1% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_UDPGT UGT2A3 79799 genome.wustl.edu 37 4 69795756 69795756 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024743.3 -1 validated p.K453 0.996 338 0% 185 36.8% - - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2A3 79799 genome.wustl.edu 37 4 69796909 69796909 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024743.3 -1 validated p.R350W 0.091 718 0% 276 35.5% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B11 10720 genome.wustl.edu 37 4 70074086 70074086 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001073.1 -1 provisional p.A329T 1.000 743 0.1% 378 31.2% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_UDPGT,superfamily_SSF53756 UGT2B28 54490 genome.wustl.edu 37 4 70160257 70160257 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_053039.1 +1 provisional p.E440D 1.000 266 0% 114 26.3% - - benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B28 54490 genome.wustl.edu 37 4 70280855 70280855 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000381079 +1 known p.S308Y 0.863 964 0% 377 35% - - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B28 54490 genome.wustl.edu 37 4 70288614 70288614 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000381079 +1 known p.E440D 0.998 329 0% 145 35.9% - - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B4 7363 genome.wustl.edu 37 4 70350946 70350946 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021139.2 -1 validated p.K430N 0.211 539 0% 220 26.4% - - benign(0.012) tolerated(0.09) neutral(0.297) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B4 7363 genome.wustl.edu 37 4 70351042 70351042 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021139.2 -1 validated p.D398E 0.997 500 0% 221 34.8% - - benign(0.011) tolerated(0.12) neutral(0.261) HMMPfam_UDPGT,PatternScan_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2A2 574537 genome.wustl.edu 37 4 70505277 70505277 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105677.1 -1 inferred p.L20I 0.000 218 0% 119 39.5% - - benign(0.02) tolerated(0.4) neutral(0.017) NULL SULT1B1 27284 genome.wustl.edu 37 4 70599873 70599873 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014465.3 -1 reviewed p.K162T 0.994 78 0% 33 45.5% - - benign(0.003) tolerated(0.25) neutral(0.037) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 FDCSP 260436 genome.wustl.edu 37 4 71099748 71099748 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152997.2 +1 validated p.S34 0.001 322 0.3% 198 32.8% - - - - - NULL ENAM 10117 genome.wustl.edu 37 4 71508603 71508603 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031889.2 +1 reviewed p.S487Y 0.955 88 0% 40 45% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ENAM 10117 genome.wustl.edu 37 4 71508799 71508799 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031889.2 +1 reviewed p.I552 0.051 125 0% 52 30.8% - - - - - NULL GRSF1 2926 genome.wustl.edu 37 4 71691907 71691907 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000514161 -1 known p.R334H 0.000 222 0% 178 31.5% - - - - - superfamily_RNA-binding domain RBD DCK 1633 genome.wustl.edu 37 4 71892391 71892391 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000504730 +1 known p.R187* 1.000 132 0% 74 33.8% - - - - - HMMPfam_dNK,superfamily_P-loop containing nucleoside triphosphate hydrolases SLC4A4 8671 genome.wustl.edu 37 4 72338468 72338468 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134742.1 +1 reviewed p.A562T 1.000 385 0.3% 246 32.9% - - benign(0.01) tolerated(0.1) neutral(0.287) HMMPfam_HCO3_cotransp GC 2638 genome.wustl.edu 37 4 72623884 72623884 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000583.2 -1 reviewed p.L236I 0.686 272 0% 129 38% - - benign(0.037) tolerated(0.27) neutral(0.036) superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 ALB 213 genome.wustl.edu 37 4 74280861 74280861 + Missense_Mutation SNP C C T rs141343001 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000477.5 +1 reviewed p.P390S 0.987 349 0% 221 33.9% - - benign(0.119) deleterious(0.03) neutral(0.374) PatternScan_ALBUMIN,superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 AFP 174 genome.wustl.edu 37 4 74306360 74306360 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134.1 +1 reviewed p.I104M 0.022 161 0% 85 25.9% - - benign(0.156) deleterious(0.04) neutral(0.363) superfamily_Serum_albumin,HMMPfam_Serum_albumin,HMMSmart_ALBUMIN AFP 174 genome.wustl.edu 37 4 74308068 74308068 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134.1 +1 reviewed p.L180I 0.002 207 0% 134 32.8% - - benign(0.143) tolerated(0.35) neutral(0.033) superfamily_Serum_albumin,HMMPfam_Serum_albumin,HMMSmart_ALBUMIN ENSG00000245879 0 genome.wustl.edu 37 4 74964648 74964648 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000500608 +1 known NULL 0.002 97 0% 78 38.5% - - - - - - MTHFD2L 441024 genome.wustl.edu 37 4 75147190 75147190 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144978.1 +1 provisional p.V285A 0.996 333 0% 229 14.8% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_THF_DHG_CYH_C,superfamily_NAD(P)-binding Rossmann-fold domains G3BP2 9908 genome.wustl.edu 37 4 76570874 76570874 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012297.4 -1 validated p.R397* 1.000 721 0% 404 30.4% - - - - - HMMSmart_SM00360,superfamily_RNA-binding domain RBD PPEF2 5470 genome.wustl.edu 37 4 76797712 76797712 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006239.2 -1 reviewed p.E350K 0.000 268 0% 158 65.8% - - benign(0) tolerated(0.11) neutral(0.272) HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases PPEF2 5470 genome.wustl.edu 37 4 76805826 76805826 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006239.2 -1 reviewed p.L223I 1.000 209 0% 133 30.8% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases FAM47E 100129583 genome.wustl.edu 37 4 77177656 77177656 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136570.1 +1 validated p.E134* 0.781 72 0% 63 28.6% - - - - - NULL STBD1 8987 genome.wustl.edu 37 4 77230677 77230677 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003943.3 +1 validated p.E201K 0.798 249 0% 129 27.1% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL CCDC158 339965 genome.wustl.edu 37 4 77276510 77276510 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042784.1 -1 validated p.Q751 1.000 579 0% 296 32.4% - - - - - NULL CCDC158 339965 genome.wustl.edu 37 4 77324299 77324299 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042784.1 -1 validated p.S21Y 1.000 560 0% 299 11.7% - - possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL SHROOM3 57619 genome.wustl.edu 37 4 77661690 77661690 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020859.3 +1 validated p.F788 0.073 72 0% 35 45.7% - - - - - NULL SEPT11 55752 genome.wustl.edu 37 4 77926927 77926927 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018243.2 +1 validated p.D106Y 1.000 303 0% 127 27.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Septin,superfamily_SSF52540 MRPL1 65008 genome.wustl.edu 37 4 78806464 78806464 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020236.3 +1 reviewed p.E153K 0.986 590 0% 258 41.1% - - benign(0.188) deleterious(0.04) neutral(0.366) HMMPfam_Ribosomal_L1,superfamily_Ribosomal protein L1 MRPL1 65008 genome.wustl.edu 37 4 78871007 78871007 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000504901 +1 known p.F72C 0.997 483 0% 196 37.8% - - - - - superfamily_Ribosomal protein L1 FRAS1 80144 genome.wustl.edu 37 4 79158665 79158665 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025074.6 +1 reviewed p.D37G 1.000 159 0% 103 35.9% - - benign(0.311) tolerated(0.08) neutral(0.397) HMMSmart_SM00214,HMMSmart_SM00215 FRAS1 80144 genome.wustl.edu 37 4 79188414 79188414 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025074.6 +1 reviewed p.R270H 0.128 312 0% 187 36.9% - - benign(0.005) tolerated(0.22) neutral(0.042) HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMSmart_SM00215 FRAS1 80144 genome.wustl.edu 37 4 79199824 79199824 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000508900 +1 known p.S175* 1.000 784 0% 408 33.3% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1 FRAS1 80144 genome.wustl.edu 37 4 79432595 79432595 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025074.6 +1 reviewed p.F3315L 1.000 150 0% 112 39.3% - - benign(0.087) tolerated(0.42) neutral(0.021) NULL GK2 2712 genome.wustl.edu 37 4 80328367 80328367 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033214.2 -1 validated p.R330C 1.000 280 0% 162 40.1% - - possibly_damaging(0.91) deleterious(0) deleterious(0.807) HMMPfam_FGGY_C,superfamily_SSF53067 ANTXR2 118429 genome.wustl.edu 37 4 80977091 80977091 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145794.1 -1 reviewed p.K125Q 1.000 449 0% 223 35.4% - - possibly_damaging(0.85) tolerated(0.2) neutral(0.376) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like PRDM8 56978 genome.wustl.edu 37 4 81121368 81121368 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099403.1 +1 validated p.V45A 0.997 261 0% 164 31.1% - - possibly_damaging(0.882) tolerated(0.06) deleterious(0.667) NULL PRDM8 56978 genome.wustl.edu 37 4 81123180 81123180 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099403.1 +1 validated p.S188 0.932 73 0% 43 46.5% - - - - - NULL PRKG2 5593 genome.wustl.edu 37 4 82095960 82095960 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006259.1 -1 provisional p.I205 0.980 402 0.2% 194 25.8% - - - - - HMMPfam_cNMP_binding,HMMSmart_cNMP,PatternScan_CNMP_BINDING_1,superfamily_cNMP_binding THAP9 79725 genome.wustl.edu 37 4 83827662 83827662 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024672.4 +1 validated p.I154 0.002 179 0% 67 31.3% - - - - - NULL FAM175A 84142 genome.wustl.edu 37 4 84383626 84383626 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139076.2 -1 validated p.F409C 1.000 301 0% 153 34% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NKX6-1 4825 genome.wustl.edu 37 4 85416992 85416992 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006168.2 -1 validated p.G226* 1.000 248 0% 141 44% - - - - - superfamily_Homeodomain-like MAPK10 5602 genome.wustl.edu 37 4 86985430 86985430 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138982.2 -1 reviewed p.E367K 1.000 301 0.3% 154 39.6% - - benign(0.246) deleterious(0.02) neutral(0.408) superfamily_Protein kinase-like (PK-like) PTPN13 5783 genome.wustl.edu 37 4 87622790 87622790 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080685.2 +1 reviewed p.Y344C 1.000 99 1% 58 34.5% - - probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL PTPN13 5783 genome.wustl.edu 37 4 87720314 87720314 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080685.2 +1 reviewed p.D2159 0.723 361 0% 125 32.8% - - - - - NULL PTPN13 5783 genome.wustl.edu 37 4 87731055 87731055 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080685.2 +1 reviewed p.T2411M 0.999 365 0% 218 39.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 AFF1 4299 genome.wustl.edu 37 4 87967978 87967978 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005935.2 +1 validated p.P90 0.000 133 0% 86 33.7% - - - - - HMMPfam_AF-4 KLHL8 57563 genome.wustl.edu 37 4 88091362 88091362 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020803.3 -1 validated p.D469A 1.000 134 0% 73 23.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain KLHL8 57563 genome.wustl.edu 37 4 88106635 88106635 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020803.3 -1 validated p.S178I 1.000 129 0% 92 33.7% - - possibly_damaging(0.697) tolerated(0.09) deleterious(0.546) HMMPfam_BACK DSPP 1834 genome.wustl.edu 37 4 88536993 88536993 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014208.3 +1 reviewed p.S1060N 0.185 535 0% 556 28.8% - - unknown(0) - - NULL DSPP 1834 genome.wustl.edu 37 4 88537007 88537007 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014208.3 +1 reviewed p.D1065N 0.633 583 0.5% 552 30.1% - - unknown(0) - - NULL DSPP 1834 genome.wustl.edu 37 4 88537434 88537434 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014208.3 +1 reviewed p.S1207I 0.837 481 0% 387 34.6% - - unknown(0) - - NULL DMP1 1758 genome.wustl.edu 37 4 88583999 88583999 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004407.3 +1 reviewed p.E357K 0.996 220 0% 107 16.8% - - benign(0.079) deleterious(0) neutral(0.450) HMMPfam_DMP1 IBSP 3381 genome.wustl.edu 37 4 88723833 88723833 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004967.3 +1 reviewed p.L45I 0.931 188 0% 84 39.3% - - benign(0.192) tolerated(0.06) neutral(0.341) HMMPfam_BSP_II MEPE 56955 genome.wustl.edu 37 4 88766338 88766338 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020203.3 +1 validated p.E106D 0.000 121 0% 55 10.9% - - benign(0.03) tolerated(0.3) neutral(0.030) HMMPfam_Osteoregulin PKD2 5311 genome.wustl.edu 37 4 88989099 88989099 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000297.2 +1 reviewed p.R803Q 1.000 380 0.3% 238 39.1% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL ABCG2 9429 genome.wustl.edu 37 4 89061014 89061014 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004827.2 -1 reviewed p.R45Q 0.943 235 0% 129 31.8% - - benign(0.389) tolerated(0.22) neutral(0.167) superfamily_P-loop containing nucleoside triphosphate hydrolases HERC6 55008 genome.wustl.edu 37 4 89311819 89311819 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017912.3 +1 validated p.S151L 1.000 90 0% 66 34.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RCC1,superfamily_RCC1/BLIP-II HERC6 55008 genome.wustl.edu 37 4 89318105 89318105 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017912.3 +1 validated p.E330D 0.003 349 0% 142 33.1% - - benign(0.002) tolerated(0.31) neutral(0.027) superfamily_RCC1/BLIP-II HERC3 8916 genome.wustl.edu 37 4 89597576 89597576 + Splice_Site SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014606.1 +1 provisional e16+2 0.998 170 0% 99 39.4% - - - - - - FAM13A 10144 genome.wustl.edu 37 4 89689167 89689167 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014883.2 -1 validated p.G501E 0.000 315 0% 162 38.3% - - benign(0.004) tolerated(0.29) neutral(0.029) NULL SNCA 6622 genome.wustl.edu 37 4 90743413 90743413 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000345.3 -1 reviewed p.K97M 1.000 530 0% 301 28.2% - - possibly_damaging(0.926) deleterious(0) deleterious(0.819) HMMPfam_Synuclein MMRN1 22915 genome.wustl.edu 37 4 90857867 90857867 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007351.2 +1 reviewed p.N1012 0.000 82 0% 29 17.2% - - - - - NULL FAM190A 401145 genome.wustl.edu 37 4 91234139 91234139 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145065.1 +1 validated p.E484* 0.998 195 0% 73 30.1% - - - - - NULL FAM190A 401145 genome.wustl.edu 37 4 91321209 91321209 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145065.1 +1 validated p.S511F 1.000 1081 0% 484 36.4% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FAM190A 401145 genome.wustl.edu 37 4 91549304 91549304 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145065.1 +1 validated p.S618Y 1.000 173 0% 110 35.5% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL TMSB4XP8 7117 genome.wustl.edu 37 4 91760150 91760150 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_183049.2 -1 validated p.F13 1.000 103 0% 67 28.4% - - - - - HMMPfam_Thymosin,HMMSmart_THY GRID2 2895 genome.wustl.edu 37 4 94436426 94436426 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001510.2 +1 validated p.A686V 1.000 148 0% 90 33.3% - - possibly_damaging(0.95) deleterious(0) deleterious(0.838) HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 ATOH1 474 genome.wustl.edu 37 4 94751095 94751095 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005172.1 +1 reviewed p.E340K 1.000 33 0% 17 41.2% - - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL SMARCAD1 56916 genome.wustl.edu 37 4 95174078 95174078 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128429.1 +1 validated p.L401F 1.000 125 0% 106 35.8% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_P-loop containing nucleoside triphosphate hydrolases SMARCAD1 56916 genome.wustl.edu 37 4 95199807 95199807 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128429.1 +1 validated p.L740S 0.490 288 0% 109 44% - - benign(0) tolerated(0.41) neutral(0.015) HMMPfam_SNF2_N PDHA2 5161 genome.wustl.edu 37 4 96761557 96761557 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005390.4 +1 validated p.R86C 0.964 147 0% 83 28.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E1_dh,superfamily_SSF52518 PDHA2 5161 genome.wustl.edu 37 4 96762177 96762177 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005390.4 +1 validated p.M292I 1.000 394 0% 219 33.8% - - possibly_damaging(0.828) deleterious(0.01) deleterious(0.720) HMMPfam_E1_dh,superfamily_SSF52518 C4orf37 285555 genome.wustl.edu 37 4 98633860 98633860 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_174952.2 -1 validated p.A437E 0.683 300 0% 111 35.1% - - possibly_damaging(0.803) tolerated(0.08) deleterious(0.603) NULL C4orf37 285555 genome.wustl.edu 37 4 99055575 99055575 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_174952.2 -1 validated p.E49* 0.741 157 0% 55 45.5% - - - - - NULL METAP1 23173 genome.wustl.edu 37 4 99969981 99969981 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015143.2 +1 validated p.G295 1.000 395 0% 210 36.7% - - - - - HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase,PatternScan_MAP_1 ADH1A 124 genome.wustl.edu 37 4 100205586 100205586 + Silent SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000667.2 -1 reviewed p.T179 0.989 237 0% 172 16.3% - - - - - superfamily_NAD(P)-binding Rossmann-fold domains ADH1A 124 genome.wustl.edu 37 4 100208729 100208729 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000667.2 -1 reviewed p.R38C 1.000 186 0% 73 32.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_GroES-like,HMMPfam_ADH_N ADH1B 125 genome.wustl.edu 37 4 100232009 100232009 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000668.4 -1 reviewed p.K339T 1.000 485 0% 249 32.9% - - probably_damaging(0.985) deleterious(0.05) deleterious(0.777) superfamily_GroES-like C4orf17 84103 genome.wustl.edu 37 4 100434274 100434274 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032149.2 +1 validated p.I12 0.000 144 0% 90 30% - - - - - NULL MTTP 4547 genome.wustl.edu 37 4 100543898 100543898 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000253.2 +1 reviewed p.E860* 0.744 229 0% 136 30.9% - - - - - NULL DAPP1 27071 genome.wustl.edu 37 4 100761484 100761484 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014395.2 +1 validated p.T88I 0.836 256 0% 91 35.2% - - benign(0.326) tolerated(0.11) neutral(0.373) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain DAPP1 27071 genome.wustl.edu 37 4 100782739 100782739 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014395.2 +1 validated p.G165D 1.000 177 0% 107 10.3% - - possibly_damaging(0.925) deleterious(0) deleterious(0.818) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like,superfamily_SH2 domain DNAJB14 79982 genome.wustl.edu 37 4 100824913 100824913 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031723.2 -1 validated p.R329* 1.000 512 0.2% 300 25.7% - - - - - HMMPfam_DUF1977 EMCN 51705 genome.wustl.edu 37 4 101337074 101337074 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016242.3 -1 validated p.K244N 1.000 106 0% 57 21.1% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_Endomucin EMCN 51705 genome.wustl.edu 37 4 101342478 101342478 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016242.3 -1 validated p.L209M 0.983 343 0% 128 33.6% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Endomucin PPP3CA 5530 genome.wustl.edu 37 4 101947132 101947132 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000944.4 -1 validated p.R486C 1.000 424 0% 253 13.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Metallo-dependent phosphatases BANK1 55024 genome.wustl.edu 37 4 102751182 102751182 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017935.4 +1 reviewed p.K96N 0.993 186 0% 106 34.9% - - benign(0.042) tolerated(0.46) neutral(0.015) NULL NFKB1 4790 genome.wustl.edu 37 4 103533676 103533676 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003998.3 +1 reviewed p.T835 0.137 222 0.5% 95 30.5% - - - - - HMMPfam_Death,HMMSmart_DEATH,superfamily_DEATH_like SLC9B1 150159 genome.wustl.edu 37 4 103866375 103866375 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139173.2 -1 reviewed p.P210S 0.998 228 0% 108 20.4% - - possibly_damaging(0.924) deleterious(0) deleterious(0.818) HMMPfam_Na_H_Exchanger SLC9B2 133308 genome.wustl.edu 37 4 103987604 103987604 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178833.4 -1 validated p.L51I 0.118 552 0% 278 36.7% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SLC9B2 133308 genome.wustl.edu 37 4 103988733 103988733 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000508136 -1 known p.P108H 0.000 339 0% 215 34.4% - - unknown(0) deleterious(0.01) - NULL CENPE 1062 genome.wustl.edu 37 4 104053975 104053975 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001813.2 -1 validated p.E2267* 1.000 395 0.3% 141 11.3% - - - - - NULL CENPE 1062 genome.wustl.edu 37 4 104057510 104057510 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001813.2 -1 validated p.L2104V 1.000 232 0% 104 38.5% - - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL CENPE 1062 genome.wustl.edu 37 4 104061538 104061538 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001813.2 -1 validated p.R1930C 0.986 351 0% 167 31.1% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL CENPE 1062 genome.wustl.edu 37 4 104068580 104068580 + Missense_Mutation SNP G G A rs186947885 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001813.2 -1 validated p.T1356M 0.000 411 0% 212 34.4% - - benign(0.367) tolerated(0.12) neutral(0.377) NULL CENPE 1062 genome.wustl.edu 37 4 104068713 104068713 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001813.2 -1 validated p.T1312A 0.000 879 0% 434 36.4% - - benign(0.05) tolerated(0.78) neutral(0.004) NULL CENPE 1062 genome.wustl.edu 37 4 104079785 104079785 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001813.2 -1 validated p.D954N 0.928 529 0% 257 28.4% - - probably_damaging(0.978) tolerated(0.18) deleterious(0.476) NULL CENPE 1062 genome.wustl.edu 37 4 104115811 104115811 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001813.2 -1 validated p.E170* 1.000 374 0% 175 32% - - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases TACR3 6870 genome.wustl.edu 37 4 104511147 104511147 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001059.1 -1 reviewed p.R364* 0.988 186 0% 108 35.2% - - - - - superfamily_SSF81321 TACR3 6870 genome.wustl.edu 37 4 104579481 104579481 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001059.1 -1 reviewed p.L210I 0.968 357 0% 146 19.2% - - benign(0.38) tolerated(0.06) neutral(0.444) HMMPfam_7tm_1,superfamily_SSF81321 TET2 54790 genome.wustl.edu 37 4 106157490 106157490 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127208.1 +1 validated p.F797 1.000 175 0% 77 23.4% - - - - - NULL PPA2 27068 genome.wustl.edu 37 4 106359121 106359121 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_176869.2 -1 reviewed p.E172K 1.000 314 0% 151 45% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pyrophosphatase,superfamily_Inorganic pyrophosphatase GSTCD 79807 genome.wustl.edu 37 4 106746865 106746865 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031720.2 +1 validated p.R480C 1.000 364 0% 154 35.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_S-adenosyl-L-methionine-dependent methyltransferases AIMP1 9255 genome.wustl.edu 37 4 107252980 107252980 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142416.1 +1 reviewed p.V205 0.269 234 0% 120 30.8% - - - - - HMMPfam_tRNA_bind,superfamily_Nucleic acid-binding proteins PAPSS1 9061 genome.wustl.edu 37 4 108608204 108608204 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005443.4 -1 validated p.E181* 1.000 239 0% 120 35.8% - - - - - HMMPfam_APS_kinase,superfamily_P-loop containing nucleoside triphosphate hydrolases LEF1 51176 genome.wustl.edu 37 4 109088813 109088813 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016269.4 -1 reviewed p.I37 1.000 125 0% 109 11% - - - - - HMMPfam_CTNNB1_binding OSTC 58505 genome.wustl.edu 37 4 109576814 109576814 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021227.2 +1 validated e2+1 1.000 273 0% 150 37.3% - - - - - - SEC24B 10427 genome.wustl.edu 37 4 110433153 110433153 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006323.2 +1 reviewed p.R606Q 1.000 465 0.2% 244 18.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-Sec23_Sec24,superfamily_Zn-finger domain of Sec23/24,superfamily_beta-sandwich domain of Sec23/24 CASP6 839 genome.wustl.edu 37 4 110610532 110610532 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001226.3 -1 reviewed p.A279V 1.000 171 0% 100 31% - - benign(0.002) tolerated(1) - HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like CASP6 839 genome.wustl.edu 37 4 110612100 110612100 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001226.3 -1 reviewed p.E183D 0.000 294 0% 201 37.3% - - benign(0) tolerated(0.66) neutral(0.003) HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like GAR1 54433 genome.wustl.edu 37 4 110740321 110740321 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000503671 +1 known p.*178 0.001 92 0% 80 38.8% - - - - - NULL EGF 1950 genome.wustl.edu 37 4 110909800 110909800 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001963.4 +1 reviewed p.N890S 1.000 374 0% 257 13.2% - - possibly_damaging(0.719) deleterious(0.01) deleterious(0.666) PatternScan_ASX_HYDROXYL,HMMSmart_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 ELOVL6 79071 genome.wustl.edu 37 4 111026739 111026739 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130721.1 -1 validated p.F45 1.000 131 0% 83 48.2% - - - - - HMMPfam_ELO ENPEP 2028 genome.wustl.edu 37 4 111398042 111398042 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001977.3 +1 validated p.R158W 0.000 70 1.4% 27 25.9% - - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_Peptidase_M1,superfamily_Leukotriene A4 hydrolase N-terminal domain ENPEP 2028 genome.wustl.edu 37 4 111470885 111470885 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001977.3 +1 validated p.L782I 1.000 362 0% 196 37.2% - - probably_damaging(1) tolerated(0.3) deleterious(0.528) NULL PITX2 5308 genome.wustl.edu 37 4 111539758 111539758 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000394595 -1 known p.V91I 1.000 103 0% 84 33.3% - - unknown(0) - - NULL PITX2 5308 genome.wustl.edu 37 4 111539787 111539787 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000325.5 -1 reviewed p.E157K 1.000 131 0% 69 33.3% - - benign(0.372) deleterious(0.02) deleterious(0.502) NULL ALPK1 80216 genome.wustl.edu 37 4 113352943 113352943 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001102406.1 +1 validated p.I747S 0.001 82 0% 31 54.8% - - benign(0.06) deleterious(0) neutral(0.449) NULL ALPK1 80216 genome.wustl.edu 37 4 113353561 113353561 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001102406.1 +1 validated p.S953F 0.992 186 0% 86 33.7% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ALPK1 80216 genome.wustl.edu 37 4 113359797 113359797 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001102406.1 +1 validated p.L1116 0.093 369 0% 164 28.7% - - - - - HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like) C4orf21 55345 genome.wustl.edu 37 4 113469533 113469533 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000505019 -1 known p.R1784* 0.019 265 0% 108 48.1% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases C4orf21 55345 genome.wustl.edu 37 4 113505280 113505280 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000505019 -1 known p.F1384L 1.000 312 0% 147 36.7% - - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_zf-GRF C4orf21 55345 genome.wustl.edu 37 4 113508506 113508506 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000505019 -1 known p.S1236Y 0.000 144 0% 102 10.8% - - benign(0.139) deleterious(0.04) neutral(0.361) NULL ANK2 287 genome.wustl.edu 37 4 114257039 114257039 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001148.4 +1 reviewed p.I1139 0.985 159 0% 98 44.9% - - - - - NULL ANK2 287 genome.wustl.edu 37 4 114262908 114262908 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001148.4 +1 reviewed p.E1320* 1.000 281 0% 143 36.4% - - - - - NULL ANK2 287 genome.wustl.edu 37 4 114275124 114275124 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001148.4 +1 reviewed p.R1784* 0.997 144 0% 62 37.1% - - - - - NULL ANK2 287 genome.wustl.edu 37 4 114277338 114277338 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001148.4 +1 reviewed p.L2522I 0.096 102 0% 55 30.9% - - benign(0.356) - - NULL ANK2 287 genome.wustl.edu 37 4 114277738 114277738 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001148.4 +1 reviewed p.S2655L 0.933 351 0% 159 35.8% - - benign(0.167) - - NULL CAMK2D 817 genome.wustl.edu 37 4 114381391 114381391 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000513132 -1 known p.L76M 1.000 189 0% 61 39.3% - - - - - HMMPfam_CaMKII_AD,superfamily_NTF2-like UGT8 7368 genome.wustl.edu 37 4 115544340 115544340 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128174.1 +1 validated p.E102K 1.000 376 0% 207 33.8% - - possibly_damaging(0.791) tolerated(0.26) neutral(0.331) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase TRAM1L1 133022 genome.wustl.edu 37 4 118005796 118005796 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152402.2 -1 validated p.L252M 0.985 198 0% 136 11.8% - - possibly_damaging(0.939) tolerated(0.24) neutral(0.422) HMMPfam_TRAM_LAG1_CLN8,HMMSmart_TLC NDST3 9348 genome.wustl.edu 37 4 119158200 119158200 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004784.2 +1 reviewed e9-1 1.000 357 0% 192 35.4% - - - - - - SYNPO2 171024 genome.wustl.edu 37 4 119947992 119947992 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000504178 +1 known p.E108* 0.001 83 0% 49 36.7% - - benign(0.006) tolerated(0.69) neutral(0.002) NULL MYOZ2 51778 genome.wustl.edu 37 4 120072138 120072138 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016599.3 +1 validated p.R63I 1.000 251 0% 121 42.1% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Calsarcin MYOZ2 51778 genome.wustl.edu 37 4 120085534 120085534 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016599.3 +1 validated p.Y182C 1.000 187 0% 93 33.3% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Calsarcin USP53 54532 genome.wustl.edu 37 4 120188515 120188515 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019050.2 +1 validated p.R338Q 0.961 232 0% 163 14.7% - - possibly_damaging(0.747) deleterious(0.02) deleterious(0.657) HMMPfam_UCH,superfamily_SSF54001 USP53 54532 genome.wustl.edu 37 4 120213569 120213569 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019050.2 +1 validated p.E809* 0.972 278 0% 81 38.3% - - - - - NULL MAD2L1 4085 genome.wustl.edu 37 4 120981409 120981409 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002358.3 -1 reviewed p.L161W 1.000 390 0% 182 41.8% - - probably_damaging(0.992) tolerated(0.19) deleterious(0.497) HMMPfam_HORMA,superfamily_The spindle assembly checkpoint protein mad2 TNIP3 79931 genome.wustl.edu 37 4 122071316 122071316 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128843.1 -1 validated p.S184Y 0.000 285 0% 132 46.2% - - benign(0.002) deleterious(0.02) neutral(0.383) NULL TNIP3 79931 genome.wustl.edu 37 4 122082334 122082334 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128843.1 -1 validated p.S35Y 0.953 427 0% 224 37.5% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL ANXA5 308 genome.wustl.edu 37 4 122590879 122590879 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001154.3 -1 reviewed p.G261* 1.000 191 0% 57 19.3% - - - - - superfamily_Annexin,HMMPfam_Annexin EXOSC9 5393 genome.wustl.edu 37 4 122732753 122732753 + Nonsense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001034194.1 +1 validated p.K252* 1.000 224 0% 85 47.1% - - - - - HMMPfam_RNase_PH_C,superfamily_3_ExoRNase CCNA2 890 genome.wustl.edu 37 4 122739986 122739986 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001237.3 -1 validated p.L362S 1.000 271 0% 110 35.5% - - possibly_damaging(0.951) deleterious(0) deleterious(0.839) HMMPfam_Cyclin_C,HMMSmart_SM00385,superfamily_Cyclin-like CCNA2 890 genome.wustl.edu 37 4 122743632 122743632 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001237.3 -1 validated p.F128C 0.739 356 0% 211 37.4% - - benign(0.079) deleterious(0.02) neutral(0.389) NULL TRPC3 7222 genome.wustl.edu 37 4 122801030 122801030 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130698.1 -1 validated p.E876G 1.000 226 0% 126 31.7% - - probably_damaging(0.968) deleterious(0.01) deleterious(0.816) NULL TRPC3 7222 genome.wustl.edu 37 4 122846304 122846304 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130698.1 -1 validated p.L349I 1.000 228 0% 194 17% - - benign(0.199) tolerated(0.29) neutral(0.048) NULL ADAD1 132612 genome.wustl.edu 37 4 123329171 123329171 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139243.3 +1 validated p.R278I 1.000 162 0% 93 10.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_A_deamin,HMMSmart_SM00552 BBS12 166379 genome.wustl.edu 37 4 123663765 123663765 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152618.2 +1 reviewed p.T240A 0.001 160 0% 90 40% - - possibly_damaging(0.921) tolerated(0.07) deleterious(0.690) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like FAT4 79633 genome.wustl.edu 37 4 126239586 126239586 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024582.4 +1 validated p.R674C 0.001 216 0% 163 31.3% - - possibly_damaging(0.938) tolerated(0.06) deleterious(0.706) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126240192 126240192 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024582.4 +1 validated p.D876Y 1.000 126 0% 80 47.5% - - possibly_damaging(0.628) deleterious(0.02) deleterious(0.602) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126329652 126329652 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024582.4 +1 validated p.E1875K 1.000 303 0% 127 29.9% - - probably_damaging(0.994) tolerated(0.54) neutral(0.460) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126336216 126336216 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024582.4 +1 validated p.S2033I 1.000 348 0% 179 31.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126373056 126373056 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024582.4 +1 validated p.P3629S 1.000 122 0% 76 22.4% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126411631 126411631 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024582.4 +1 validated p.E4552* 1.000 230 0% 87 35.6% - - - - - NULL INTU 27152 genome.wustl.edu 37 4 128605577 128605577 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015693.3 +1 validated p.R399C 1.000 495 0% 240 32.1% - - benign(0.314) tolerated(0.05) neutral(0.444) NULL HSPA4L 22824 genome.wustl.edu 37 4 128724901 128724901 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014278.2 +1 provisional p.R261W 1.000 317 0.3% 153 39.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HSP70,superfamily_SSF53067 HSPA4L 22824 genome.wustl.edu 37 4 128748465 128748465 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014278.2 +1 provisional p.Y684 0.996 207 0% 71 43.7% - - - - - HMMPfam_HSP70,superfamily_SSF100934 PLK4 10733 genome.wustl.edu 37 4 128814679 128814679 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014264.3 +1 reviewed p.I778M 1.000 267 0% 150 39.3% - - benign(0.035) tolerated(0.15) neutral(0.243) superfamily_Kinase_like PCDH10 57575 genome.wustl.edu 37 4 134073118 134073118 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032961.1 +1 reviewed p.A608V 1.000 6 0.000 7 0.571 - - possibly_damaging(0.775) deleterious(0.02) deleterious(0.671) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH10 57575 genome.wustl.edu 37 4 134111301 134111301 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032961.1 +1 reviewed p.K1037E 1.000 241 0% 95 33.7% - - benign(0.246) deleterious(0) deleterious(0.470) NULL PABPC4L 132430 genome.wustl.edu 37 4 135121241 135121241 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001114734.1 -1 validated p.E312K 0.999 358 0% 195 30.8% - - - - - HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD PCDH18 54510 genome.wustl.edu 37 4 138451869 138451869 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019035.3 -1 reviewed p.I458 0.999 215 0% 103 25.2% - - - - - HMMSmart_SM00112,PatternScan_CADHERIN_1 PCDH18 54510 genome.wustl.edu 37 4 138452143 138452143 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019035.3 -1 reviewed p.S367Y 1.000 136 0% 52 38.5% - - possibly_damaging(0.843) deleterious(0) deleterious(0.768) superfamily_Cadherin-like SLC7A11 23657 genome.wustl.edu 37 4 139101830 139101830 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014331.3 -1 validated p.R411* 1.000 192 0% 85 28.2% - - - - - NULL C4orf49 84709 genome.wustl.edu 37 4 140187819 140187819 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032623.3 -1 validated p.S219 0.048 231 0% 163 30.1% - - - - - NULL NAA15 80155 genome.wustl.edu 37 4 140272700 140272700 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_057175.3 +1 validated p.N317H 1.000 142 0% 62 22.6% - - probably_damaging(1) tolerated(0.38) deleterious(0.517) superfamily_TPR-like CLGN 1047 genome.wustl.edu 37 4 141311867 141311867 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130675.1 -1 reviewed p.P556H 0.996 557 0% 228 30.7% - - possibly_damaging(0.476) deleterious(0.03) deleterious(0.521) NULL UCP1 7350 genome.wustl.edu 37 4 141484496 141484496 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021833.4 -1 reviewed p.E168K 1.000 366 0% 195 34.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Mitoch_carrier,HMMPfam_Mito_carr ZNF330 27309 genome.wustl.edu 37 4 142155081 142155081 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014487.4 +1 validated p.N301H 0.501 348 0.3% 165 36.4% - - benign(0.002) tolerated(0.27) neutral(0.034) HMMPfam_NOA36 IL15 3600 genome.wustl.edu 37 4 142653973 142653973 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000585.3 +1 reviewed p.I154S 0.862 203 0% 83 32.5% - - possibly_damaging(0.87) deleterious(0) deleterious(0.782) HMMPfam_IL15 INPP4B 8821 genome.wustl.edu 37 4 143029298 143029298 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001101669.1 -1 reviewed p.F774 1.000 418 0% 145 34.5% - - - - - NULL INPP4B 8821 genome.wustl.edu 37 4 143045814 143045814 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001101669.1 -1 reviewed p.L607P 0.996 111 0% 76 27.6% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL USP38 84640 genome.wustl.edu 37 4 144119007 144119007 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032557.5 +1 validated p.R327K 1.000 691 0% 296 27% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL USP38 84640 genome.wustl.edu 37 4 144134979 144134979 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032557.5 +1 validated p.S617L 1.000 150 0% 94 38.3% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_UCH,superfamily_Cysteine proteinases USP38 84640 genome.wustl.edu 37 4 144135876 144135876 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032557.5 +1 validated p.F916C 1.000 136 0% 94 34% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases SMARCA5 8467 genome.wustl.edu 37 4 144449168 144449168 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003601.2 +1 reviewed p.K317Q 1.000 151 0% 59 44.1% - - possibly_damaging(0.734) tolerated(0.25) neutral(0.305) HMMPfam_SNF2_N,HMMSmart_DEXDc,superfamily_SSF52540 FREM3 166752 genome.wustl.edu 37 4 144619654 144619654 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000329798 -1 known p.K725N 1.000 499 0% 235 34% - - possibly_damaging(0.932) deleterious(0.01) deleterious(0.784) NULL FREM3 166752 genome.wustl.edu 37 4 144620823 144620823 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000329798 -1 known p.E336K 0.999 29 0% 26 26.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HHIP 64399 genome.wustl.edu 37 4 145573921 145573921 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022475.1 +1 reviewed p.F148L 1.000 201 0% 115 33% - - possibly_damaging(0.946) tolerated(0.1) deleterious(0.676) HMMPfam_Folate_rec ABCE1 6059 genome.wustl.edu 37 4 146044182 146044182 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040876.1 +1 reviewed p.R425C 1.000 56 0% 20 30% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCE1 6059 genome.wustl.edu 37 4 146048713 146048713 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040876.1 +1 reviewed p.F596L 1.000 403 0% 268 38.1% - - probably_damaging(0.998) tolerated(0.1) deleterious(0.761) NULL SLC10A7 84068 genome.wustl.edu 37 4 147215201 147215201 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001029998.3 -1 validated p.P201H 1.000 269 0% 161 37.3% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_SBF POU4F2 5458 genome.wustl.edu 37 4 147561618 147561618 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004575.2 +1 validated p.Q296 1.000 74 0% 78 32.1% - - - - - HMMPfam_Pou,HMMSmart_SM00352,PatternScan_POU_2,superfamily_lambda repressor-like DNA-binding domains TTC29 83894 genome.wustl.edu 37 4 147824741 147824741 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031956.2 -1 validated p.E181* 0.993 368 0% 200 38% - - - - - superfamily_TPR-like ARHGAP10 79658 genome.wustl.edu 37 4 148653564 148653564 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024605.3 +1 validated p.E38* 1.000 62 0% 32 56.2% - - - - - NULL DCLK2 166614 genome.wustl.edu 37 4 151153557 151153557 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040260.2 +1 validated p.V456 0.016 311 0% 165 38.2% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LRBA 987 genome.wustl.edu 37 4 151223853 151223853 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000509835 -1 known p.S1300Y 1.000 347 0% 184 34.8% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 LRBA 987 genome.wustl.edu 37 4 151836824 151836824 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006726.2 -1 validated p.R317Q 1.000 329 0% 139 38.8% - - probably_damaging(0.976) tolerated(0.14) deleterious(0.667) superfamily_Concanavalin A-like lectins/glucanases,superfamily_ARM repeat SH3D19 152503 genome.wustl.edu 37 4 152065391 152065391 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009555.3 -1 validated p.P431L 0.941 409 0% 204 33.3% - - possibly_damaging(0.706) deleterious(0) deleterious(0.699) HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 SH3D19 152503 genome.wustl.edu 37 4 152096155 152096155 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009555.3 -1 validated p.G121* 0.027 262 0% 145 40.7% - - - - - NULL SH3D19 152503 genome.wustl.edu 37 4 152096383 152096383 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009555.3 -1 validated p.K45E 0.993 182 0% 120 34.2% - - benign(0.063) deleterious(0) neutral(0.449) NULL FAM160A1 729830 genome.wustl.edu 37 4 152498626 152498626 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001109977.1 +1 predicted p.D44N 1.000 174 0% 77 19.5% - - probably_damaging(0.999) tolerated(0.6) deleterious(0.495) NULL FAM160A1 729830 genome.wustl.edu 37 4 152567855 152567855 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001109977.1 +1 predicted p.E458* 1.000 251 0% 172 11.6% - - - - - NULL TIGD4 201798 genome.wustl.edu 37 4 153690644 153690644 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145720.2 -1 reviewed p.F505V 1.000 82 0% 44 36.4% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL KIAA0922 23240 genome.wustl.edu 37 4 154478149 154478149 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015196.3 +1 validated p.R155I 1.000 237 0% 108 33.3% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL TLR2 7097 genome.wustl.edu 37 4 154624531 154624531 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003264.3 +1 reviewed p.N158D 0.068 87 0% 57 24.6% - - possibly_damaging(0.904) deleterious(0.03) deleterious(0.723) superfamily_SSF52058 DCHS2 54798 genome.wustl.edu 37 4 155157193 155157193 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017639.3 -1 validated p.E2416* 1.000 198 0% 89 37.1% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155180754 155180754 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017639.3 -1 validated p.Q1789H 0.899 218 0% 161 26.7% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155219192 155219192 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017639.3 -1 validated p.E1637* 1.000 160 0% 90 31.1% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155226325 155226325 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017639.3 -1 validated p.E1318D 0.970 102 0% 54 31.5% - - benign(0.026) tolerated(0.31) neutral(0.028) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155237086 155237086 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017639.3 -1 validated p.L1237M 0.753 500 0% 280 35.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155412210 155412210 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142552.1 -1 validated p.G100S 0.988 9 0.000 11 0.636 - - probably_damaging(1) tolerated(0.33) deleterious(0.524) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155412366 155412366 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142552.1 -1 validated p.L48I 0.997 21 0% 13 30.8% - - possibly_damaging(0.653) deleterious(0.04) deleterious(0.579) NULL PLRG1 5356 genome.wustl.edu 37 4 155461949 155461949 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000506627 -1 known p.S47L 0.977 237 0% 121 35.5% - - - - - superfamily_WD40 repeat-like FGA 2243 genome.wustl.edu 37 4 155505369 155505369 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000508.3 -1 reviewed p.E836D 1.000 157 0% 78 21.8% - - possibly_damaging(0.566) deleterious(0.04) deleterious(0.542) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like FGA 2243 genome.wustl.edu 37 4 155505557 155505557 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000508.3 -1 reviewed p.G774W 0.992 271 0% 165 32.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like FGA 2243 genome.wustl.edu 37 4 155505640 155505640 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000508.3 -1 reviewed p.S746Y 0.997 232 0% 152 19.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like FGA 2243 genome.wustl.edu 37 4 155507685 155507685 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000508.3 -1 reviewed p.S299N 0.017 552 0% 293 36.2% - - possibly_damaging(0.767) deleterious(0.02) deleterious(0.667) HMMPfam_Fib_alpha FGG 2266 genome.wustl.edu 37 4 155533704 155533704 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021870.2 -1 reviewed p.L20I 0.151 265 0% 90 35.6% - - possibly_damaging(0.774) deleterious(0.04) deleterious(0.637) NULL MAP9 79884 genome.wustl.edu 37 4 156294317 156294317 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039580.1 -1 validated p.R151I 0.515 82 0% 77 10.4% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL MAP9 79884 genome.wustl.edu 37 4 156294517 156294517 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039580.1 -1 validated p.K84N 0.092 228 0% 100 37% - - probably_damaging(0.999) tolerated(0.31) deleterious(0.517) NULL GUCY1A3 2982 genome.wustl.edu 37 4 156643292 156643292 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000856.4 +1 validated p.F607V 1.000 332 0% 153 32% - - possibly_damaging(0.858) deleterious(0) deleterious(0.776) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,PatternScan_GUANYLATE_CYCLASE_1 GUCY1A3 2982 genome.wustl.edu 37 4 156651206 156651206 + Silent SNP C C T rs184271525 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000856.4 +1 validated p.F632 1.000 212 0% 88 28.4% - - - - - HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase ASIC5 51802 genome.wustl.edu 37 4 156751127 156751127 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017419.2 -1 reviewed p.L467I 0.694 158 0% 99 31.3% - - benign(0.001) tolerated(0.31) neutral(0.027) HMMPfam_ASC ASIC5 51802 genome.wustl.edu 37 4 156757949 156757949 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017419.2 -1 reviewed p.S376Y 0.799 260 0% 91 40.7% - - benign(0.33) deleterious(0) deleterious(0.548) HMMPfam_ASC ASIC5 51802 genome.wustl.edu 37 4 156775387 156775387 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017419.2 -1 reviewed p.E143* 0.046 261 0% 119 40.3% - - - - - HMMPfam_ASC CTSO 1519 genome.wustl.edu 37 4 156858608 156858608 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001334.2 -1 reviewed p.E194* 1.000 217 0% 125 38.4% - - - - - HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,superfamily_SSF54001 CTSO 1519 genome.wustl.edu 37 4 156864327 156864327 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001334.2 -1 reviewed p.L75 1.000 267 0% 70 32.9% - - - - - superfamily_SSF54001 PDGFC 56034 genome.wustl.edu 37 4 157891976 157891976 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016205.1 -1 reviewed p.S27I 0.997 314 0% 164 36.6% - - unknown(0) deleterious(0) - NULL GRIA2 2891 genome.wustl.edu 37 4 158242642 158242642 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000826.3 +1 reviewed p.S258Y 1.000 493 0% 257 37% - - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_ANF_receptor,superfamily_SSF53822 GRIA2 2891 genome.wustl.edu 37 4 158254051 158254051 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000826.3 +1 reviewed p.I321 1.000 165 0% 77 42.9% - - - - - HMMPfam_ANF_receptor,superfamily_SSF53822 GRIA2 2891 genome.wustl.edu 37 4 158255242 158255242 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000826.3 +1 reviewed p.E412D 1.000 496 0% 282 33.3% - - possibly_damaging(0.598) tolerated(0.14) neutral(0.457) NULL GRIA2 2891 genome.wustl.edu 37 4 158282222 158282222 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001083619.1 +1 reviewed p.K784N 1.000 520 0% 214 36.4% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II GRIA2 2891 genome.wustl.edu 37 4 158284178 158284178 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000510854 +1 known p.R209* 1.000 296 0% 123 14.6% - - - - - NULL RXFP1 59350 genome.wustl.edu 37 4 159526268 159526268 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021634.2 +1 provisional p.K147N 0.995 87 0% 43 44.2% - - benign(0.004) tolerated(0.41) neutral(0.015) HMMSmart_SM00369,superfamily_L domain-like RXFP1 59350 genome.wustl.edu 37 4 159533502 159533502 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021634.2 +1 provisional p.S223Y 1.000 340 0% 171 11.7% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_L domain-like RXFP1 59350 genome.wustl.edu 37 4 159566193 159566193 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021634.2 +1 provisional p.S416 1.000 259 0% 128 35.2% - - - - - superfamily_Family A G protein-coupled receptor-like ETFDH 2110 genome.wustl.edu 37 4 159605819 159605819 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004453.2 +1 reviewed p.L161I 1.000 214 0% 92 29.3% - - benign(0.007) tolerated(0.46) neutral(0.012) superfamily_FAD/NAD(P)-binding domain PPID 5481 genome.wustl.edu 37 4 159642497 159642497 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005038.2 -1 reviewed p.R75Q 1.000 274 0% 152 32.9% - - probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1,superfamily_Cyclophilin-like FNIP2 57600 genome.wustl.edu 37 4 159772560 159772560 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020840.1 +1 validated p.R272Q 1.000 254 0% 134 35.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RAPGEF2 9693 genome.wustl.edu 37 4 160252867 160252867 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014247.2 +1 validated p.R393Q 1.000 158 0% 77 27.3% - - possibly_damaging(0.938) deleterious(0.04) deleterious(0.732) superfamily_PDZ,superfamily_Ras_GEF FSTL5 56884 genome.wustl.edu 37 4 162402192 162402192 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020116.3 -1 validated p.Q530* 1.000 186 0% 96 29.2% - - - - - superfamily_Amine_DH_B_like FSTL5 56884 genome.wustl.edu 37 4 162421211 162421211 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020116.3 -1 validated p.F472Y 1.000 441 0% 177 32.8% - - benign(0) deleterious(0.01) neutral(0.406) superfamily_Amine_DH_B_like FSTL5 56884 genome.wustl.edu 37 4 162680677 162680677 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020116.3 -1 validated p.K205Q 1.000 170 0% 65 32.3% - - probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_efhand,superfamily_SSF47473 NPY1R 4886 genome.wustl.edu 37 4 164247644 164247644 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000909.4 -1 validated p.K21N 0.000 356 0.3% 186 37.1% - - unknown(0) - - superfamily_Family A G protein-coupled receptor-like FAM218A 152756 genome.wustl.edu 37 4 165878411 165878411 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153027.1 +1 predicted p.E79D 0.001 71 0% 70 37.1% - - benign(0.018) - - NULL TRIM60 166655 genome.wustl.edu 37 4 165962355 165962355 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152620.2 +1 reviewed p.D377 0.000 273 0% 126 22.2% - - - - - HMMPfam_SPRY KLHL2 11275 genome.wustl.edu 37 4 166141126 166141126 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007246.3 +1 validated p.D23Y 1.000 333 0% 152 31.6% - - benign(0.13) deleterious(0) neutral(0.456) NULL KLHL2 11275 genome.wustl.edu 37 4 166160001 166160001 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007246.3 +1 validated p.I111L 0.946 442 0% 169 40.2% - - benign(0.018) deleterious(0.03) neutral(0.365) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB CPE 1363 genome.wustl.edu 37 4 166418700 166418700 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001873.2 +1 reviewed p.E457* 1.000 500 0.2% 206 33% - - - - - HMMSmart_SM00631,superfamily_Carboxypeptidase regulatory domain TLL1 7092 genome.wustl.edu 37 4 167012355 167012355 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012464.3 +1 reviewed p.E840* 1.000 334 0% 130 37.7% - - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain SPOCK3 50859 genome.wustl.edu 37 4 167983650 167983650 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016950.2 -1 validated p.F79 0.987 139 0% 46 41.3% - - - - - NULL PALLD 23022 genome.wustl.edu 37 4 169845492 169845492 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016081.3 +1 reviewed p.R1032C 1.000 219 0% 113 39.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 CBR4 84869 genome.wustl.edu 37 4 169911457 169911457 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032783.3 -1 validated p.T186 0.022 214 0.5% 111 34.2% - - - - - superfamily_NAD(P)-binding Rossmann-fold domains SH3RF1 57630 genome.wustl.edu 37 4 170190213 170190213 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020870.3 -1 reviewed p.E51K 1.000 100 0% 69 34.8% - - benign(0.354) tolerated(0.44) neutral(0.124) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box NEK1 4750 genome.wustl.edu 37 4 170327826 170327826 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012224.1 -1 validated p.D1071Y 1.000 206 0% 97 44.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NEK1 4750 genome.wustl.edu 37 4 170482998 170482998 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012224.1 -1 validated p.K375N 1.000 102 0% 47 38.3% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL NEK1 4750 genome.wustl.edu 37 4 170511955 170511955 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012224.1 -1 validated p.L106F 1.000 196 0.5% 134 33.6% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CLCN3 1182 genome.wustl.edu 37 4 170628121 170628121 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173872.2 +1 validated p.K618T 1.000 443 0% 302 33.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Voltage_CLC,superfamily_Cl-channel_core C4orf27 54969 genome.wustl.edu 37 4 170652862 170652862 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017867.2 -1 validated p.G301D 1.000 230 0.4% 134 32.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2228 MFAP3L 9848 genome.wustl.edu 37 4 170913057 170913057 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021647.6 -1 validated p.I234 0.982 291 0% 202 15.3% - - - - - NULL GALNTL6 442117 genome.wustl.edu 37 4 172735792 172735792 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001034845.2 +1 validated p.F21V 1.000 384 0% 214 38.8% - - possibly_damaging(0.675) deleterious(0.01) deleterious(0.645) NULL GALNTL6 442117 genome.wustl.edu 37 4 173873283 173873283 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001034845.2 +1 validated p.I415 1.000 91 0% 77 27.3% - - - - - superfamily_Nucleotide-diphospho-sugar transferases GALNT7 51809 genome.wustl.edu 37 4 174216610 174216610 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017423.2 +1 reviewed p.R273Q 1.000 307 0% 132 36.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases HMGB2 3148 genome.wustl.edu 37 4 174254717 174254717 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130688.1 -1 reviewed p.K28 1.000 306 0% 165 17% - - - - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box SAP30 8819 genome.wustl.edu 37 4 174294593 174294593 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003864.3 +1 reviewed p.R123Q 1.000 388 0% 194 29.4% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL MORF4 10934 genome.wustl.edu 37 4 174537609 174537609 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006792.2 -1 validated p.F62L 0.999 388 0% 216 38.9% - - - - - HMMPfam_MRG FBXO8 26269 genome.wustl.edu 37 4 175158640 175158640 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012180.2 -1 reviewed p.A295T 1.000 289 0% 157 35% - - probably_damaging(0.986) tolerated(0.14) deleterious(0.684) HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain CEP44 80817 genome.wustl.edu 37 4 175231944 175231944 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145314.1 +1 validated p.F299C 0.000 200 0% 73 42.5% - - benign(0.057) tolerated(0.06) neutral(0.326) NULL CEP44 80817 genome.wustl.edu 37 4 175237363 175237363 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145314.1 +1 validated p.S336 1.000 330 0% 146 13.7% - - - - - NULL HPGD 3248 genome.wustl.edu 37 4 175413165 175413165 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000860.4 -1 reviewed p.S248Y 0.828 385 0% 220 31.8% - - possibly_damaging(0.785) deleterious(0.01) deleterious(0.700) NULL HPGD 3248 genome.wustl.edu 37 4 175439171 175439171 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000860.4 -1 reviewed p.A92D 1.000 420 0% 200 34% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_adh_short,superfamily_NAD(P)-bd GLRA3 8001 genome.wustl.edu 37 4 175564972 175564972 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006529.2 -1 validated p.L454I 1.000 154 0% 81 11.1% - - benign(0.009) tolerated(0.75) neutral(0.002) superfamily_Neurotransmitter-gated ion-channel transmembrane pore GLRA3 8001 genome.wustl.edu 37 4 175565006 175565006 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006529.2 -1 validated p.I442M 1.000 175 0% 85 36.5% - - benign(0.208) deleterious(0.01) neutral(0.426) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore GLRA3 8001 genome.wustl.edu 37 4 175649694 175649694 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006529.2 -1 validated p.F141L 1.000 274 0% 148 32.4% - - possibly_damaging(0.722) deleterious(0) deleterious(0.707) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like WDR17 116966 genome.wustl.edu 37 4 177056310 177056310 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_170710.4 +1 reviewed p.L408I 1.000 268 0% 130 35.4% - - benign(0.095) tolerated(0.49) neutral(0.018) HMMSmart_WD40,superfamily_Amine_DH_B_like,superfamily_WD40_like,HMMPfam_WD40 SPATA4 132851 genome.wustl.edu 37 4 177106011 177106011 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144644.2 -1 provisional p.E280* 0.007 453 0% 250 30% - - - - - NULL ASB5 140458 genome.wustl.edu 37 4 177142315 177142315 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080874.2 -1 reviewed p.L221I 1.000 132 0% 63 44.4% - - probably_damaging(0.966) deleterious(0.04) deleterious(0.757) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat VEGFC 7424 genome.wustl.edu 37 4 177650733 177650733 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000280193 -1 known p.E105D 0.024 561 0.2% 263 22.4% - - benign(0.008) tolerated(0.62) neutral(0.004) NULL ING2 3622 genome.wustl.edu 37 4 184431587 184431587 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001564.2 +1 validated p.E109* 1.000 162 0.6% 76 26.3% - - - - - NULL TRAPPC11 60684 genome.wustl.edu 37 4 184614818 184614818 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021942.4 +1 validated p.L772M 1.000 308 0% 144 43.1% - - benign(0.015) tolerated(0.11) neutral(0.272) NULL STOX2 56977 genome.wustl.edu 37 4 184931469 184931469 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020225.1 +1 provisional p.S493L 0.997 121 0% 62 27.4% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ENPP6 133121 genome.wustl.edu 37 4 185038131 185038131 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153343.3 -1 validated p.D245N 0.989 259 0% 142 28.9% - - possibly_damaging(0.925) tolerated(0.48) neutral(0.384) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core ENPP6 133121 genome.wustl.edu 37 4 185138827 185138827 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153343.3 -1 validated p.G49V 0.999 142 0% 65 36.9% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core IRF2 3660 genome.wustl.edu 37 4 185339723 185339723 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000505067 -1 known p.P8S 1.000 326 0% 217 36.4% - - - - - NULL KIAA1430 57587 genome.wustl.edu 37 4 186111880 186111880 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020827.1 -1 validated p.N157 0.001 268 0% 190 13.2% - - - - - NULL KIAA1430 57587 genome.wustl.edu 37 4 186112193 186112193 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020827.1 -1 validated p.S53L 0.089 455 0% 215 11.2% - - benign(0) tolerated(0.9) - NULL KIAA1430 57587 genome.wustl.edu 37 4 186112223 186112223 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020827.1 -1 validated p.R43I 0.013 324 0% 156 39.1% - - probably_damaging(0.965) deleterious(0.02) deleterious(0.790) NULL SNX25 83891 genome.wustl.edu 37 4 186272683 186272683 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031953.2 +1 validated p.D632N 1.000 404 0% 194 34.5% - - possibly_damaging(0.833) tolerated(0.54) neutral(0.325) superfamily_PX ANKRD37 353322 genome.wustl.edu 37 4 186320918 186320918 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000335174 +1 known p.R156M 0.940 209 0% 99 36.4% - - benign(0.31) deleterious(0) deleterious(0.541) NULL CCDC110 256309 genome.wustl.edu 37 4 186366679 186366679 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152775.3 -1 validated p.D827Y 0.000 280 0% 112 32.1% - - probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL CCDC110 256309 genome.wustl.edu 37 4 186379786 186379786 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152775.3 -1 validated p.T652I 0.001 247 0% 135 38.5% - - benign(0) tolerated(0.22) neutral(0.042) NULL SORBS2 8470 genome.wustl.edu 37 4 186559309 186559309 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003603.5 -1 reviewed p.R277H 1.000 324 0% 170 34.1% - - unknown(0) tolerated(0.16) - NULL SORBS2 8470 genome.wustl.edu 37 4 186570637 186570637 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021069.4 -1 reviewed p.R185W 0.031 518 0% 257 12.5% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL SORBS2 8470 genome.wustl.edu 37 4 186599611 186599611 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003603.5 -1 reviewed p.R20Q 1.000 470 0% 183 39.9% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL TLR3 7098 genome.wustl.edu 37 4 187004356 187004356 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003265.2 +1 reviewed p.R506C 0.032 107 0.9% 94 31.9% - - possibly_damaging(0.857) tolerated(0.18) neutral(0.387) HMMSmart_LRR_TYP,superfamily_SSF52058 CYP4V2 285440 genome.wustl.edu 37 4 187122437 187122437 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207352.3 +1 reviewed p.E310K 0.013 347 0% 163 12.3% - - benign(0.003) tolerated(0.2) neutral(0.049) HMMPfam_p450,superfamily_Cytochrome P450 F11 2160 genome.wustl.edu 37 4 187201165 187201165 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000128.3 +1 reviewed e7-1 1.000 147 0.7% 77 36.4% - - - - - - F11 2160 genome.wustl.edu 37 4 187206863 187206863 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000128.3 +1 reviewed p.S459Y 0.877 344 0% 182 13.7% - - benign(0.092) deleterious(0) neutral(0.452) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases FAT1 2195 genome.wustl.edu 37 4 187521113 187521113 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005245.3 -1 reviewed p.T4014 0.000 133 0% 78 42.3% - - - - - superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin FAT1 2195 genome.wustl.edu 37 4 187539951 187539951 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005245.3 -1 reviewed p.R2597* 0.986 158 0% 77 36.4% - - - - - superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187584530 187584530 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005245.3 -1 reviewed p.S1168L 0.920 322 0% 176 27.8% - - benign(0.121) tolerated(0.47) neutral(0.020) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187630847 187630847 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005245.3 -1 reviewed p.E45D 0.999 179 0% 102 37.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,superfamily_Cadherin-like ZFP42 132625 genome.wustl.edu 37 4 188924294 188924294 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_174900.3 +1 validated p.F111 0.000 184 0% 87 36.8% - - - - - NULL TRIML2 205860 genome.wustl.edu 37 4 189013047 189013047 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173553.1 -1 provisional p.S215F 0.706 221 0% 159 34% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_PRY TRIML2 205860 genome.wustl.edu 37 4 189026343 189026343 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173553.1 -1 provisional p.E10D 0.000 703 0% 436 32.3% - - benign(0.004) deleterious(0.04) neutral(0.349) NULL TRIML1 339976 genome.wustl.edu 37 4 189068024 189068024 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178556.3 +1 provisional p.S302L 0.998 135 0% 58 29.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_PRY TUBB7P 56604 genome.wustl.edu 37 4 190903980 190903980 + Missense_Mutation SNP C C A rs182645267 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020040.3 -1 validated p.D335Y 1.000 120 0% 75 33.3% - - - - - superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C LRRC14B 389257 genome.wustl.edu 37 5 191703 191703 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080478.1 +1 provisional p.S17F 0.969 41 0% 35 42.9% - - probably_damaging(0.992) tolerated(0.07) deleterious(0.766) NULL SDHA 6389 genome.wustl.edu 37 5 225650 225650 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004168.2 +1 reviewed p.T143 0.312 114 0% 103 38.8% - - - - - HMMPfam_FAD_binding_2,superfamily_FAD/NAD(P)-binding domain EXOC3 11336 genome.wustl.edu 37 5 446350 446350 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007277.4 +1 reviewed p.A10 0.368 127 0% 62 40.3% - - - - - NULL BRD9 65980 genome.wustl.edu 37 5 886845 886845 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023924.4 -1 validated p.M136T 1.000 211 0% 164 37.2% - - possibly_damaging(0.448) deleterious(0.04) deleterious(0.495) superfamily_Bromodomain SLC12A7 10723 genome.wustl.edu 37 5 1074768 1074768 + Silent SNP G G C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006598.2 -1 validated p.G662 0.923 34 0% 17 35.3% - - - - - HMMPfam_AA_permease TERT 7015 genome.wustl.edu 37 5 1264590 1264590 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198253.2 -1 reviewed p.A924 0.065 66 0% 50 38% - - - - - NULL TERT 7015 genome.wustl.edu 37 5 1272354 1272354 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198253.2 -1 reviewed p.F776 0.640 51 0% 27 40.7% - - - - - superfamily_DNA/RNA polymerases SLC6A3 6531 genome.wustl.edu 37 5 1406356 1406356 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001044.4 -1 reviewed p.P516S 1.000 29 0% 17 23.5% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_SNF LPCAT1 79888 genome.wustl.edu 37 5 1501680 1501680 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000475622 -1 known p.P54T 0.715 67 0% 38 34.2% - - - - - NULL MRPL36 64979 genome.wustl.edu 37 5 1798905 1798905 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032479.3 -1 reviewed p.R49C 0.000 141 0.7% 113 45.1% - - probably_damaging(0.995) tolerated(0.05) deleterious(0.803) NULL IRX4 50805 genome.wustl.edu 37 5 1879928 1879928 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000508261 -1 known p.A155V 1.000 215 0.9% 139 43.9% - - unknown(0) - - NULL IRX2 153572 genome.wustl.edu 37 5 2749791 2749791 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134222.1 -1 validated p.N120 1.000 257 0.4% 210 31.9% - - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like IRX1 79192 genome.wustl.edu 37 5 3599732 3599732 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024337.3 +1 validated p.D224N 1.000 105 0% 63 46% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ADAMTS16 170690 genome.wustl.edu 37 5 5146499 5146499 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139056.2 +1 reviewed p.F144 1.000 97 0% 57 38.6% - - - - - HMMPfam_Pep_M12B_propep ADAMTS16 170690 genome.wustl.edu 37 5 5190221 5190221 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139056.2 +1 reviewed p.K395N 1.000 226 0% 170 42.9% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" KIAA0947 23379 genome.wustl.edu 37 5 5464686 5464686 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015325.1 +1 validated p.N1747H 1.000 115 0% 65 40% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SRD5A1 6715 genome.wustl.edu 37 5 6663040 6663040 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001047.2 +1 validated p.T225M 0.993 476 0% 252 39.7% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_Steroid_dh SRD5A1 6715 genome.wustl.edu 37 5 6668359 6668359 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001047.2 +1 validated p.I253S 0.319 281 0% 104 41.3% - - benign(0.015) tolerated(0.06) neutral(0.323) HMMPfam_Steroid_dh PAPD7 11044 genome.wustl.edu 37 5 6742686 6742686 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006999.4 +1 reviewed p.A114 0.022 231 0% 90 36.7% - - - - - HMMPfam_NTP_transf_2,superfamily_Nucleotidyltransferase ADCY2 108 genome.wustl.edu 37 5 7773141 7773141 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020546.2 +1 reviewed p.V771M 1.000 340 0% 207 36.7% - - possibly_damaging(0.903) deleterious(0) deleterious(0.802) NULL CCT5 22948 genome.wustl.edu 37 5 10261835 10261835 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012073.3 +1 reviewed p.F386C 1.000 264 0% 140 40.7% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL-intermediate domain like CTNND2 1501 genome.wustl.edu 37 5 11022975 11022975 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001332.2 -1 validated p.E969K 1.000 352 0% 288 40.6% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_ARM repeat CTNND2 1501 genome.wustl.edu 37 5 11159845 11159845 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001332.2 -1 validated p.D668N 1.000 302 0% 172 33.1% - - possibly_damaging(0.636) deleterious(0) deleterious(0.667) HMMSmart_SM00185,superfamily_ARM repeat CTNND2 1501 genome.wustl.edu 37 5 11411748 11411748 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001332.2 -1 validated p.I113 0.999 231 0% 140 37.9% - - - - - NULL CTNND2 1501 genome.wustl.edu 37 5 11565143 11565143 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001332.2 -1 validated p.R67Q 1.000 111 0% 77 31.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DNAH5 1767 genome.wustl.edu 37 5 13701497 13701497 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001369.2 -1 reviewed p.E4463* 1.000 155 0.6% 47 34% - - - - - HMMPfam_Dynein_heavy DNAH5 1767 genome.wustl.edu 37 5 13753537 13753537 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001369.2 -1 reviewed p.K3559N 0.008 265 0% 150 26% - - benign(0) tolerated(0.47) neutral(0.011) NULL DNAH5 1767 genome.wustl.edu 37 5 13786338 13786338 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001369.2 -1 reviewed p.A2924T 0.001 168 0% 123 35.8% - - benign(0) tolerated(0.45) neutral(0.012) superfamily_SSF52540 DNAH5 1767 genome.wustl.edu 37 5 13814920 13814920 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001369.2 -1 reviewed p.D2342N 1.000 157 0% 84 48.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_AAA,HMMPfam_AAA_5,superfamily_SSF52540 DNAH5 1767 genome.wustl.edu 37 5 13829758 13829758 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001369.2 -1 reviewed p.R2102H 1.000 218 0% 119 40.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_AAA,superfamily_SSF52540 DNAH5 1767 genome.wustl.edu 37 5 13841860 13841860 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001369.2 -1 reviewed p.A1809T 0.001 247 0% 138 34.8% - - benign(0) tolerated(0.41) neutral(0.015) HMMPfam_DHC_N2 DNAH5 1767 genome.wustl.edu 37 5 13864727 13864727 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001369.2 -1 reviewed p.A1459T 1.000 102 0% 71 32.4% - - possibly_damaging(0.768) deleterious(0.01) deleterious(0.691) HMMPfam_DHC_N2 DNAH5 1767 genome.wustl.edu 37 5 13919297 13919297 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001369.2 -1 reviewed p.S321 0.339 126 0% 89 41.6% - - - - - HMMPfam_DHC_N1 TRIO 7204 genome.wustl.edu 37 5 14290918 14290918 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007118.2 +1 validated p.E212* 1.000 260 0% 138 43.5% - - - - - superfamily_CRAL/TRIO domain TRIO 7204 genome.wustl.edu 37 5 14291101 14291101 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007118.2 +1 validated p.E273K 1.000 130 0% 56 17.9% - - unknown(0) deleterious(0.01) - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat TRIO 7204 genome.wustl.edu 37 5 14389473 14389473 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007118.2 +1 validated p.G1342* 1.000 269 0% 131 29% - - - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) TRIO 7204 genome.wustl.edu 37 5 14405990 14405990 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007118.2 +1 validated p.K1584E 1.000 75 0% 41 43.9% - - unknown(0) deleterious(0.01) - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like TRIO 7204 genome.wustl.edu 37 5 14471497 14471497 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007118.2 +1 validated p.S1945L 1.000 220 0% 142 33.1% - - unknown(0) tolerated(0.3) - superfamily_DBL homology domain (DH-domain) FAM105A 54491 genome.wustl.edu 37 5 14602293 14602293 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019018.2 +1 validated p.A117V 1.000 373 0% 165 30.3% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL ENSG00000249556 0 genome.wustl.edu 37 5 14652622 14652622 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000515374 +1 novel NULL 1.000 57 0% 54 33.3% - - - - - - LOC402198 402198 genome.wustl.edu 37 5 14961213 14961213 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001716525.1 +1 model p.R355K 0.950 52 0% 32 28.1% - - - - - superfamily_PurM C-terminal domain-like ZNF622 90441 genome.wustl.edu 37 5 16453120 16453120 + Splice_Site SNP A A G rs80230392 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033414.2 -1 provisional e5+2 1.000 106 0% 77 31.2% - - - - - - MYO10 4651 genome.wustl.edu 37 5 16758318 16758318 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012334.2 -1 validated p.D586A 1.000 266 0% 190 38.9% - - probably_damaging(0.999) tolerated(0.21) deleterious(0.534) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO10 4651 genome.wustl.edu 37 5 16818217 16818217 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012334.2 -1 validated p.T60 0.000 263 0% 140 37.9% - - - - - HMMSmart_MYSc,superfamily_SSF52540 BASP1 10409 genome.wustl.edu 37 5 17275525 17275525 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006317.3 +1 reviewed p.E67G 0.999 31 0% 23 65.2% - - unknown(0) deleterious(0.05) - HMMPfam_BASP1 CDH18 1016 genome.wustl.edu 37 5 19473779 19473779 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004934.3 -1 reviewed p.P643 0.993 136 0% 81 30.9% - - - - - HMMPfam_Cadherin_C CDH18 1016 genome.wustl.edu 37 5 19503203 19503203 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004934.3 -1 reviewed p.S510G 1.000 356 0% 143 37.8% - - benign(0.003) deleterious(0.01) neutral(0.406) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH12 1010 genome.wustl.edu 37 5 21783553 21783553 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004061.3 -1 reviewed p.G436E 0.990 417 0% 261 36.8% - - benign(0.012) tolerated(0.69) neutral(0.003) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PRDM9 56979 genome.wustl.edu 37 5 23524526 23524526 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020227.2 +1 provisional p.R345Q 0.866 534 0.2% 271 35.8% - - possibly_damaging(0.516) tolerated(0.14) neutral(0.423) HMMSmart_SET,superfamily_SSF82199 CDH10 1008 genome.wustl.edu 37 5 24498605 24498605 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006727.2 -1 reviewed p.V473M 1.000 166 0% 74 31.1% - - benign(0.392) tolerated(0.05) deleterious(0.471) HMMSmart_CA,superfamily_Cadherin CDH9 1007 genome.wustl.edu 37 5 26881416 26881416 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016279.3 -1 reviewed p.D733E 1.000 385 0% 214 38.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin_C CDH9 1007 genome.wustl.edu 37 5 26881445 26881445 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016279.3 -1 reviewed p.D724N 1.000 428 0% 242 39.3% - - possibly_damaging(0.735) tolerated(0.09) deleterious(0.565) HMMPfam_Cadherin_C CDH9 1007 genome.wustl.edu 37 5 26885832 26885832 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016279.3 -1 reviewed p.C591 0.365 98 0% 53 24.5% - - - - - HMMSmart_CA,superfamily_Cadherin CDH9 1007 genome.wustl.edu 37 5 26916017 26916017 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016279.3 -1 reviewed p.D82N 1.000 207 0% 92 10.9% - - possibly_damaging(0.919) tolerated(0.06) deleterious(0.692) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH6 1004 genome.wustl.edu 37 5 31294114 31294114 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004932.2 +1 reviewed p.L92I 1.000 127 0% 51 37.3% - - possibly_damaging(0.597) tolerated(0.09) deleterious(0.503) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DROSHA 29102 genome.wustl.edu 37 5 31421399 31421399 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013235.4 -1 validated p.H1169N 1.000 293 0% 130 27.7% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Ribonuclease_3,HMMSmart_SM00535,superfamily_RNase III catalytic domain-like (Pfam 00636) DROSHA 29102 genome.wustl.edu 37 5 31464401 31464401 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013235.4 -1 validated p.T839M 1.000 257 0% 155 41.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PDZD2 23037 genome.wustl.edu 37 5 31799457 31799457 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178140.2 +1 reviewed p.L34 0.473 102 0% 54 33.3% - - - - - NULL PDZD2 23037 genome.wustl.edu 37 5 32090530 32090530 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178140.2 +1 reviewed p.P2326S 1.000 81 0% 48 16.7% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL MTMR12 54545 genome.wustl.edu 37 5 32229974 32229974 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040446.1 -1 reviewed p.P718 0.000 317 0% 166 33.1% - - - - - NULL TARS 6897 genome.wustl.edu 37 5 33453407 33453407 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152295.3 +1 reviewed p.D115N 1.000 100 0% 55 38.2% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_TGS,superfamily_TGS-like ADAMTS12 81792 genome.wustl.edu 37 5 33535007 33535007 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030955.2 -1 reviewed p.L1513I 0.500 610 0% 261 35.2% - - benign(0.119) tolerated(0.08) neutral(0.309) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTS12 81792 genome.wustl.edu 37 5 33683164 33683164 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030955.2 -1 reviewed p.H292N 1.000 157 1.3% 86 44.2% - - benign(0.312) tolerated(1) neutral(0.098) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" SLC45A2 51151 genome.wustl.edu 37 5 33984548 33984548 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016180.3 -1 reviewed p.F47L 0.994 125 0% 69 29% - - unknown(0) tolerated(0.08) - superfamily_MFS general substrate transporter AMACR 23600 genome.wustl.edu 37 5 33989263 33989263 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014324.5 -1 reviewed p.E362K 0.019 295 0% 194 36.1% - - benign(0) tolerated(0.66) neutral(0.003) superfamily_CoA-transferase family III (CaiB/BaiF) AMACR 23600 genome.wustl.edu 37 5 33989305 33989305 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014324.5 -1 reviewed p.E348* 1.000 261 0% 175 38.3% - - - - - superfamily_CoA-transferase family III (CaiB/BaiF) C1QTNF3 114899 genome.wustl.edu 37 5 34028947 34028947 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181435.4 -1 validated p.Q204 1.000 247 0% 144 32.6% - - - - - HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like TTC23L 153657 genome.wustl.edu 37 5 34896874 34896874 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144725.3 +1 validated e9-1 0.950 195 0% 103 29.1% - - - - - - BRIX1 55299 genome.wustl.edu 37 5 34924951 34924951 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018321.3 +1 validated e9-1 1.000 386 0.5% 150 32.7% - - - - - - BRIX1 55299 genome.wustl.edu 37 5 34925420 34925420 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018321.3 +1 validated p.P294 0.248 156 0% 63 39.7% - - - - - NULL AGXT2 64902 genome.wustl.edu 37 5 35010122 35010122 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031900.3 -1 reviewed p.E441* 1.000 293 0% 183 29% - - - - - HMMPfam_Aminotran_3,superfamily_PyrdxlP-dep_Trfase_major SPEF2 79925 genome.wustl.edu 37 5 35709072 35709072 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024867.3 +1 validated p.K896N 1.000 187 0% 82 31.7% - - probably_damaging(0.956) tolerated(0.11) deleterious(0.671) NULL SPEF2 79925 genome.wustl.edu 37 5 35740121 35740121 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024867.3 +1 validated p.T1055N 0.000 258 0% 143 33.6% - - benign(0.001) tolerated(0.25) neutral(0.037) NULL SPEF2 79925 genome.wustl.edu 37 5 35807289 35807289 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024867.3 +1 validated p.V1771 0.315 283 0% 143 37.1% - - - - - HMMPfam_hATC IL7R 3575 genome.wustl.edu 37 5 35867471 35867471 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002185.2 +1 reviewed p.E95 0.951 260 0% 97 49.5% - - - - - NULL IL7R 3575 genome.wustl.edu 37 5 35867532 35867532 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002185.2 +1 reviewed p.L116I 0.000 235 0% 96 25% - - benign(0) tolerated(0.47) neutral(0.011) NULL IL7R 3575 genome.wustl.edu 37 5 35874624 35874624 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002185.2 +1 reviewed p.A260 0.483 620 0% 320 38.4% - - - - - NULL LMBRD2 92255 genome.wustl.edu 37 5 36105249 36105249 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001007527.1 -1 validated p.E650* 1.000 332 0% 210 35.7% - - - - - NULL LMBRD2 92255 genome.wustl.edu 37 5 36137422 36137422 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001007527.1 -1 validated p.A164T 1.000 241 0% 90 35.6% - - benign(0.046) tolerated(0.28) neutral(0.034) HMMPfam_LMBR1 SLC1A3 6507 genome.wustl.edu 37 5 36671208 36671208 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004172.4 +1 reviewed p.I133V 1.000 248 0% 182 33% - - benign(0.001) tolerated(0.29) neutral(0.029) HMMPfam_SDF NIPBL 25836 genome.wustl.edu 37 5 36953811 36953811 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133433.3 +1 reviewed p.M5V 1.000 183 0% 106 43.4% - - possibly_damaging(0.941) tolerated(0.16) neutral(0.446) NULL NIPBL 25836 genome.wustl.edu 37 5 36975971 36975971 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133433.3 +1 reviewed p.R321I 1.000 239 0% 132 31.1% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_ARM repeat NIPBL 25836 genome.wustl.edu 37 5 37006465 37006465 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133433.3 +1 reviewed p.D1288N 1.000 141 0% 91 14.3% - - possibly_damaging(0.461) deleterious(0.04) deleterious(0.500) superfamily_ARM repeat NIPBL 25836 genome.wustl.edu 37 5 37007477 37007477 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133433.3 +1 reviewed p.Q1380 0.999 341 0% 131 27.5% - - - - - superfamily_ARM repeat NIPBL 25836 genome.wustl.edu 37 5 37020568 37020568 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133433.3 +1 reviewed p.R1673H 1.000 263 0% 139 41% - - probably_damaging(0.985) deleterious(0.03) deleterious(0.796) superfamily_ARM repeat NIPBL 25836 genome.wustl.edu 37 5 37020575 37020575 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133433.3 +1 reviewed p.F1675L 0.991 254 0% 135 34.1% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) superfamily_ARM repeat NIPBL 25836 genome.wustl.edu 37 5 37048683 37048683 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133433.3 +1 reviewed p.K2223N 1.000 96 0% 20 20% - - benign(0.026) tolerated(0.2) neutral(0.050) superfamily_ARM repeat NIPBL 25836 genome.wustl.edu 37 5 37052561 37052561 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133433.3 +1 reviewed p.E2386K 1.000 165 0% 131 13% - - probably_damaging(0.996) tolerated(0.15) deleterious(0.703) superfamily_ARM repeat C5orf42 65250 genome.wustl.edu 37 5 37180208 37180208 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023073.3 -1 predicted p.K763T 0.176 141 0% 87 39.1% - - benign(0.236) tolerated(0.05) neutral(0.369) NULL C5orf42 65250 genome.wustl.edu 37 5 37183599 37183599 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023073.3 -1 predicted p.L443I 1.000 218 0% 92 40.2% - - benign(0.098) deleterious(0) neutral(0.452) NULL C5orf42 65250 genome.wustl.edu 37 5 37205456 37205456 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000508244 -1 known p.A1084T 0.011 254 0% 124 14.5% - - benign(0) tolerated(0.31) neutral(0.027) NULL C5orf42 65250 genome.wustl.edu 37 5 37224364 37224364 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000508244 -1 known p.E858K 0.192 589 0.2% 283 36.7% - - benign(0) tolerated(0.59) neutral(0.004) NULL C5orf42 65250 genome.wustl.edu 37 5 37224759 37224759 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000508244 -1 known p.S792N 0.000 430 0% 247 35.2% - - benign(0.067) tolerated(0.12) neutral(0.265) NULL WDR70 55100 genome.wustl.edu 37 5 37392140 37392140 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018034.2 +1 provisional p.E72* 1.000 297 0% 113 36.3% - - - - - NULL GDNF 2668 genome.wustl.edu 37 5 37816081 37816081 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000514.2 -1 reviewed p.S103Y 0.996 235 0% 143 35% - - benign(0.006) deleterious(0.01) neutral(0.406) NULL EGFLAM 133584 genome.wustl.edu 37 5 38407201 38407201 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152403.2 +1 validated p.S367L 0.998 156 0% 104 42.3% - - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMSmart_EGF,superfamily_ConA_like_lec_gl LIFR 3977 genome.wustl.edu 37 5 38489298 38489298 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127671.1 -1 reviewed p.S739 0.003 267 0% 124 32.3% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III LIFR 3977 genome.wustl.edu 37 5 38506684 38506684 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127671.1 -1 reviewed p.E348* 0.998 209 0% 73 39.7% - - - - - HMMSmart_SM00060,superfamily_Fibronectin type III RICTOR 253260 genome.wustl.edu 37 5 38944612 38944612 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152756.3 -1 validated p.L1617I 1.000 335 0% 136 39% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) superfamily_ARM repeat RICTOR 253260 genome.wustl.edu 37 5 38952300 38952300 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152756.3 -1 validated p.S1042L 1.000 196 0% 123 38.2% - - benign(0.288) tolerated(0.6) neutral(0.093) superfamily_ARM repeat RICTOR 253260 genome.wustl.edu 37 5 38959935 38959935 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152756.3 -1 validated p.L666R 1.000 385 0.3% 161 38.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C9 735 genome.wustl.edu 37 5 39288941 39288941 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001737.3 -1 reviewed p.C510Y 0.998 433 0% 233 36.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF57196 C9 735 genome.wustl.edu 37 5 39315889 39315889 + Nonsense_Mutation SNP A A C rs191850540 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001737.3 -1 reviewed p.Y286* 0.681 255 0% 115 21.7% - - - - - HMMPfam_MACPF DAB2 1601 genome.wustl.edu 37 5 39377376 39377376 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001343.2 -1 validated p.T505S 0.004 140 0% 80 33.8% - - benign(0) tolerated(0.86) neutral(0.001) NULL DAB2 1601 genome.wustl.edu 37 5 39392518 39392518 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001343.2 -1 validated p.I93 1.000 380 0% 172 40.1% - - - - - HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like LOC100127944 100127944 genome.wustl.edu 37 5 40681440 40681440 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001717341.2 -1 model p.D246N 0.997 44 0% 47 40.4% - - - - - NULL RPL37 6167 genome.wustl.edu 37 5 40834304 40834304 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000997.4 -1 reviewed p.K68I 1.000 486 0% 255 34.1% - - possibly_damaging(0.828) deleterious(0) deleterious(0.758) NULL CARD6 84674 genome.wustl.edu 37 5 40843381 40843381 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032587.3 +1 reviewed p.K137N 0.687 81 0% 42 50% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CARD6 84674 genome.wustl.edu 37 5 40843583 40843583 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032587.3 +1 reviewed p.D205Y 1.000 155 0% 58 37.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C7 730 genome.wustl.edu 37 5 40947899 40947899 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000587.2 +1 reviewed p.E312* 1.000 215 0% 113 44.2% - - - - - HMMPfam_MACPF,HMMSmart_MACPF C7 730 genome.wustl.edu 37 5 40959678 40959678 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000587.2 +1 reviewed p.T539 0.000 301 0% 124 38.7% - - - - - HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 C7 730 genome.wustl.edu 37 5 40964921 40964921 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000587.2 +1 reviewed p.V610M 1.000 433 0% 193 34.7% - - probably_damaging(0.996) tolerated(0.1) deleterious(0.748) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module C7 730 genome.wustl.edu 37 5 40972528 40972528 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000587.2 +1 reviewed p.L636 0.002 496 0% 274 37.6% - - - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module HEATR7B2 133558 genome.wustl.edu 37 5 40999860 40999860 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173489.4 -1 validated p.L1502M 1.000 625 0% 302 39.1% - - probably_damaging(0.998) tolerated(0.23) deleterious(0.516) superfamily_ARM repeat HEATR7B2 133558 genome.wustl.edu 37 5 41004914 41004914 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173489.4 -1 validated p.R1325* 1.000 344 0.3% 173 37% - - - - - superfamily_ARM repeat HEATR7B2 133558 genome.wustl.edu 37 5 41038935 41038935 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173489.4 -1 validated p.G706V 0.713 139 0% 59 42.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat HEATR7B2 133558 genome.wustl.edu 37 5 41052674 41052674 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173489.4 -1 validated p.L375I 0.968 197 0% 107 39.3% - - probably_damaging(0.971) tolerated(0.83) neutral(0.413) superfamily_ARM repeat C6 729 genome.wustl.edu 37 5 41159289 41159289 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000065.2 -1 reviewed p.S584L 0.731 388 0% 168 29.8% - - benign(0.389) tolerated(0.69) neutral(0.127) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 C6 729 genome.wustl.edu 37 5 41176813 41176813 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000065.2 -1 reviewed p.S311Y 1.000 268 0% 132 44.7% - - probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_MACPF C6 729 genome.wustl.edu 37 5 41186287 41186287 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000065.2 -1 reviewed p.P204L 0.997 211 0% 113 10.6% - - benign(0.064) tolerated(1) neutral(0.004) NULL PLCXD3 345557 genome.wustl.edu 37 5 41382554 41382554 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005473.2 -1 validated p.V62 0.996 107 0% 59 15.3% - - - - - superfamily_PLC-like_Pdiesterase_TIM-brl C5orf51 285636 genome.wustl.edu 37 5 41907899 41907899 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175921.4 +1 validated p.E54D 0.963 210 0% 85 25.9% - - benign(0) tolerated(0.57) neutral(0.006) NULL ZNF131 7690 genome.wustl.edu 37 5 43161837 43161837 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003432.1 +1 validated p.E252 1.000 130 0% 74 36.5% - - - - - NULL NIM1 167359 genome.wustl.edu 37 5 43277182 43277182 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153361.2 +1 provisional p.D106Y 1.000 236 0% 109 27.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HMGCS1 3157 genome.wustl.edu 37 5 43292990 43292990 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098272.1 -1 validated p.F423 1.000 192 0% 105 38.1% - - - - - HMMPfam_HMG_CoA_synt_C,superfamily_Thiolase-like MRPS30 10884 genome.wustl.edu 37 5 44809582 44809582 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016640.3 +1 reviewed p.S173Y 0.003 45 0% 27 37% - - benign(0.002) tolerated(0.06) neutral(0.323) HMMPfam_PDCD9 HCN1 348980 genome.wustl.edu 37 5 45303726 45303726 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021072.2 -1 validated p.K531N 1.000 242 0% 118 39.8% - - possibly_damaging(0.729) tolerated(0.09) deleterious(0.562) HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding HCN1 348980 genome.wustl.edu 37 5 45462110 45462110 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021072.2 -1 validated e3-1 1.000 117 0% 61 34.4% - - - - - - EMB 133418 genome.wustl.edu 37 5 49699022 49699022 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198449.2 -1 reviewed p.K289N 0.000 124 0% 58 37.9% - - possibly_damaging(0.731) tolerated(0.05) deleterious(0.613) NULL PARP8 79668 genome.wustl.edu 37 5 50090073 50090073 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024615.3 +1 validated p.K257R 1.000 287 0% 127 34.6% - - possibly_damaging(0.837) tolerated(0.07) deleterious(0.639) NULL PARP8 79668 genome.wustl.edu 37 5 50122606 50122606 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024615.3 +1 validated p.R649I 1.000 240 0% 107 36.4% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) superfamily_ADP-ribosylation PARP8 79668 genome.wustl.edu 37 5 50137871 50137871 + Missense_Mutation SNP G G A rs186735992 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024615.3 +1 validated p.R845Q 1.000 219 0% 69 39.1% - - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL ISL1 3670 genome.wustl.edu 37 5 50683460 50683460 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002202.2 +1 reviewed p.E119K 1.000 60 0% 61 29.5% - - probably_damaging(0.985) deleterious(0.05) deleterious(0.777) HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) PELO 53918 genome.wustl.edu 37 5 52096740 52096740 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015946.4 +1 reviewed p.R171M 1.000 93 0% 72 36.1% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_eRF1_2 ITGA2 3673 genome.wustl.edu 37 5 52386352 52386352 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002203.3 +1 reviewed p.G1157S 0.978 205 0% 86 36% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Integrin_alpha,PatternScan_INTEGRIN_ALPHA SKIV2L2 23517 genome.wustl.edu 37 5 54618213 54618213 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015360.4 +1 validated p.D65Y 1.000 309 0% 125 39.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF52540 SKIV2L2 23517 genome.wustl.edu 37 5 54618270 54618270 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015360.4 +1 validated p.E84* 0.990 283 0% 106 42.5% - - - - - superfamily_SSF52540 SKIV2L2 23517 genome.wustl.edu 37 5 54649099 54649099 + Splice_Site SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015360.4 +1 validated e14+2 1.000 212 0% 96 29.2% - - - - - - SKIV2L2 23517 genome.wustl.edu 37 5 54718747 54718747 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015360.4 +1 validated p.R1005* 1.000 362 0% 174 32.2% - - - - - HMMPfam_DSHCT SLC38A9 153129 genome.wustl.edu 37 5 54922370 54922370 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173514.2 -1 validated p.F546 0.886 238 0% 120 34.2% - - - - - NULL DDX4 54514 genome.wustl.edu 37 5 55082460 55082460 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024415.2 +1 validated p.D327Y 1.000 149 0% 80 31.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases IL31RA 133396 genome.wustl.edu 37 5 55212767 55212767 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139017.4 +1 validated p.S705L 0.000 123 0% 65 46.2% - - possibly_damaging(0.916) deleterious(0) deleterious(0.811) NULL IL31RA 133396 genome.wustl.edu 37 5 55212884 55212884 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139017.4 +1 validated p.S744* 0.999 117 0% 72 13.9% - - - - - NULL ANKRD55 79722 genome.wustl.edu 37 5 55396125 55396125 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024669.2 -1 validated p.S577Y 0.832 375 0% 199 36.2% - - probably_damaging(0.99) deleterious(0.04) deleterious(0.790) NULL LOC345645 345645 genome.wustl.edu 37 5 55571574 55571574 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342506.1 -1 model p.R267I 1.000 312 0% 129 36.4% - - - - - HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases MAP3K1 4214 genome.wustl.edu 37 5 56177934 56177934 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005921.1 +1 validated p.S969 0.990 258 0% 119 40.3% - - - - - NULL SETD9 133383 genome.wustl.edu 37 5 56212667 56212667 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153706.3 +1 validated p.A280T 0.871 633 0% 344 35.2% - - benign(0.119) deleterious(0.02) neutral(0.393) superfamily_SET domain RAB3C 115827 genome.wustl.edu 37 5 57913668 57913668 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138453.2 +1 provisional p.N75H 1.000 112 0% 61 39.3% - - benign(0.007) tolerated(0.22) neutral(0.042) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 RAB3C 115827 genome.wustl.edu 37 5 58147050 58147050 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138453.2 +1 provisional p.R186C 1.000 206 0% 110 30.9% - - benign(0.159) deleterious(0.03) neutral(0.379) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 ELOVL7 79993 genome.wustl.edu 37 5 60083202 60083202 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001104558.1 -1 validated p.S8L 0.988 352 0% 179 35.2% - - benign(0.005) deleterious(0.02) neutral(0.383) NULL ZSWIM6 57688 genome.wustl.edu 37 5 60817240 60817240 + Missense_Mutation SNP C C T rs190882707 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020928.1 +1 provisional p.A495V 1.000 183 0% 90 36.7% - - benign(0.001) deleterious(0.04) neutral(0.349) NULL IPO11 51194 genome.wustl.edu 37 5 61747747 61747747 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134779.1 +1 validated p.K208T 1.000 154 0% 113 38.1% - - benign(0.177) deleterious(0.03) neutral(0.381) superfamily_ARM repeat IPO11 51194 genome.wustl.edu 37 5 61789943 61789943 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134779.1 +1 validated p.D568Y 1.000 305 0% 128 35.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat LRRC70 100130733 genome.wustl.edu 37 5 61877067 61877067 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181506.4 +1 validated p.R601Q 0.000 217 0.5% 91 36.3% - - benign(0) tolerated(0.3) neutral(0.029) NULL HTR1A 3350 genome.wustl.edu 37 5 63256583 63256583 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000524.2 -1 validated p.E322K 1.000 44 0% 56 25% - - benign(0.005) deleterious(0.04) neutral(0.349) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CWC27 10283 genome.wustl.edu 37 5 64079739 64079739 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005869.2 +1 validated p.G110D 1.000 314 0% 182 36.8% - - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like TRIM23 373 genome.wustl.edu 37 5 64887676 64887676 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001656.3 -1 reviewed p.R549* 1.000 331 0% 132 39.4% - - - - - HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,PatternScan_ARF,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases TRIM23 373 genome.wustl.edu 37 5 64909948 64909948 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001656.3 -1 reviewed p.E115* 1.000 350 0% 172 41.9% - - - - - NULL NLN 57486 genome.wustl.edu 37 5 65081685 65081685 + Silent SNP C C T rs189259847 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020726.3 +1 provisional p.F302 0.998 177 0% 122 36.1% - - - - - HMMPfam_Peptidase_M3,superfamily_SSF55486 MAST4 375449 genome.wustl.edu 37 5 66460654 66460654 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015183.2 +1 validated p.L1694I 0.168 105 0% 53 39.6% - - benign(0.323) deleterious(0) deleterious(0.545) NULL PIK3R1 5295 genome.wustl.edu 37 5 67522657 67522657 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181523.1 +1 reviewed p.E52* 1.000 158 0% 56 30.4% - - - - - HMMSmart_SM00326,superfamily_SH3-domain SLC30A5 64924 genome.wustl.edu 37 5 68411876 68411876 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022902.2 +1 provisional p.R303C 1.000 607 0% 331 34.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCNB1 891 genome.wustl.edu 37 5 68470114 68470114 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031966.2 +1 reviewed p.R195W 1.000 316 0% 150 29.3% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Cyclin_N,superfamily_Cyclin_like CDK7 1022 genome.wustl.edu 37 5 68568852 68568852 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001799.3 +1 validated p.R283Q 1.000 164 0% 75 29.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase TAF9 6880 genome.wustl.edu 37 5 68661293 68661293 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001015892.1 -1 validated p.F91C 1.000 295 0% 197 48.2% - - probably_damaging(0.972) deleterious(0) deleterious(0.859) HMMPfam_TFIID-31kDa MARVELD2 153562 genome.wustl.edu 37 5 68716252 68716252 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001038603.2 +1 validated p.F347S 1.000 202 0% 109 40.4% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_MARVEL BDP1 55814 genome.wustl.edu 37 5 70763227 70763227 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018429.2 +1 reviewed p.E278* 1.000 289 0% 160 31.9% - - - - - NULL BDP1 55814 genome.wustl.edu 37 5 70793191 70793191 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018429.2 +1 reviewed p.L632I 0.030 212 0% 100 28% - - benign(0.012) tolerated(0.35) neutral(0.021) NULL BDP1 55814 genome.wustl.edu 37 5 70800471 70800471 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018429.2 +1 reviewed p.Q755H 0.329 233 0% 100 41% - - possibly_damaging(0.513) deleterious(0) deleterious(0.617) NULL BDP1 55814 genome.wustl.edu 37 5 70819908 70819908 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018429.2 +1 reviewed p.R1844C 0.995 199 0% 95 35.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MAP1B 4131 genome.wustl.edu 37 5 71411572 71411572 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005909.3 +1 validated p.E78* 1.000 279 0% 150 24.7% - - - - - NULL MAP1B 4131 genome.wustl.edu 37 5 71491422 71491422 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005909.3 +1 validated p.S747Y 0.712 87 0% 25 32% - - unknown(0) deleterious(0) - NULL MAP1B 4131 genome.wustl.edu 37 5 71491766 71491766 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005909.3 +1 validated p.E862K 0.996 68 0% 34 29.4% - - unknown(0) tolerated(0.17) - NULL MAP1B 4131 genome.wustl.edu 37 5 71492136 71492136 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005909.3 +1 validated p.Y985C 0.009 269 0% 106 34% - - unknown(0) tolerated(0.08) - NULL MAP1B 4131 genome.wustl.edu 37 5 71493401 71493401 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005909.3 +1 validated p.E1407K 0.990 117 0% 65 32.3% - - unknown(0) deleterious(0.01) - NULL MAP1B 4131 genome.wustl.edu 37 5 71495411 71495411 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005909.3 +1 validated p.R2077C 1.000 242 0.4% 137 37.2% - - unknown(0) deleterious(0.03) - NULL MRPS27 23107 genome.wustl.edu 37 5 71516782 71516782 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015084.2 -1 reviewed p.A400V 0.897 433 0% 251 31.9% - - unknown(0) tolerated(0.27) - HMMPfam_MRP-S27 PTCD2 79810 genome.wustl.edu 37 5 71627158 71627158 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024754.3 +1 validated p.E142K 0.997 768 0% 411 12.7% - - probably_damaging(1) tolerated(0.31) deleterious(0.527) NULL ZNF366 167465 genome.wustl.edu 37 5 71756025 71756025 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152625.1 -1 provisional p.P433 0.212 196 0.5% 162 43.8% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers FCHO2 115548 genome.wustl.edu 37 5 72302338 72302338 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138782.2 +1 validated p.K188Q 1.000 127 0% 47 14.9% - - possibly_damaging(0.662) tolerated(0.05) deleterious(0.580) NULL FCHO2 115548 genome.wustl.edu 37 5 72377614 72377614 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138782.2 +1 validated p.S662* 1.000 360 0% 185 34.6% - - - - - NULL TMEM171 134285 genome.wustl.edu 37 5 72424277 72424277 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173490.6 +1 validated p.S234Y 0.061 594 0% 257 16.7% - - possibly_damaging(0.887) deleterious(0.04) deleterious(0.696) NULL UTP15 84135 genome.wustl.edu 37 5 72875781 72875781 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032175.2 +1 validated p.E473D 1.000 293 0% 103 14.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_U3_snoRNA_C RGNEF 64283 genome.wustl.edu 37 5 73069792 73069792 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080479.2 +1 reviewed p.N196 0.503 196 0% 94 16% - - - - - NULL GFM2 84340 genome.wustl.edu 37 5 74041628 74041628 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032380.3 -1 reviewed p.E242* 1.000 351 0% 176 12.5% - - - - - HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM169A 26049 genome.wustl.edu 37 5 74077529 74077529 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015566.1 -1 validated p.S590Y 0.990 345 0% 184 14.7% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ANKRD31 256006 genome.wustl.edu 37 5 74400370 74400370 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000274361 -1 known p.P1615S 0.005 434 0% 230 36.5% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL ANKRD31 256006 genome.wustl.edu 37 5 74400682 74400682 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000274361 -1 known p.E1511K 0.037 210 0% 143 30.1% - - probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL ANKRD31 256006 genome.wustl.edu 37 5 74413984 74413984 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000274361 -1 known p.D1282Y 0.009 371 0% 180 35% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) superfamily_ANK ANKRD31 256006 genome.wustl.edu 37 5 74489242 74489242 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000274361 -1 known p.D398Y 0.000 347 0% 205 41% - - possibly_damaging(0.861) deleterious(0) deleterious(0.778) NULL COL4A3BP 10087 genome.wustl.edu 37 5 74754949 74754949 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130105.1 -1 reviewed p.L225I 1.000 465 0% 230 34.3% - - benign(0.255) tolerated(0.09) neutral(0.323) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 POLK 51426 genome.wustl.edu 37 5 74842947 74842947 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016218.2 +1 validated p.E34* 1.000 312 0% 106 34.9% - - - - - NULL POLK 51426 genome.wustl.edu 37 5 74886221 74886221 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016218.2 +1 validated p.L438I 1.000 363 0% 141 26.2% - - probably_damaging(0.98) tolerated(0.22) neutral(0.466) HMMPfam_IMS,superfamily_Lesion bypass DNA polymerase (Y-family) little finger domain POC5 134359 genome.wustl.edu 37 5 75008688 75008688 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099271.1 -1 validated p.S25 1.000 155 0.6% 81 13.6% - - - - - NULL IQGAP2 10788 genome.wustl.edu 37 5 75991443 75991443 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006633.2 +1 validated p.H1386 0.001 134 0% 109 30.3% - - - - - HMMPfam_RasGAP_C LOC100287744 100287744 genome.wustl.edu 37 5 76128978 76128978 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342529.1 -1 model p.P46S 0.005 353 0% 210 32.9% - - - - - NULL LOC100287744 100287744 genome.wustl.edu 37 5 76129104 76129104 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342529.1 -1 model p.R4C 0.237 198 0% 139 28.1% - - - - - NULL CRHBP 1393 genome.wustl.edu 37 5 76249999 76249999 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001882.3 +1 reviewed p.G107 0.964 46 0% 69 39.1% - - - - - superfamily_Spermadhesin CUB domain,HMMPfam_CRF-BP CRHBP 1393 genome.wustl.edu 37 5 76264672 76264672 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001882.3 +1 reviewed p.G311* 0.990 311 0% 193 34.2% - - - - - HMMPfam_CRF-BP PDE8B 8622 genome.wustl.edu 37 5 76709122 76709122 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003719.2 +1 validated p.K633N 0.998 384 0% 218 31.7% - - possibly_damaging(0.73) tolerated(0.06) deleterious(0.589) HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like OTP 23440 genome.wustl.edu 37 5 76932659 76932659 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032109.2 -1 reviewed p.E145A 1.000 63 0% 33 45.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 AP3B1 8546 genome.wustl.edu 37 5 77311299 77311299 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003664.3 -1 reviewed p.I1022 0.995 219 0% 128 25.8% - - - - - NULL AP3B1 8546 genome.wustl.edu 37 5 77335050 77335050 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003664.3 -1 reviewed p.R876* 1.000 451 0% 214 12.1% - - - - - NULL AP3B1 8546 genome.wustl.edu 37 5 77477341 77477341 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003664.3 -1 reviewed p.R311K 1.000 225 0% 113 26.5% - - probably_damaging(0.957) deleterious(0.02) deleterious(0.784) HMMPfam_Adaptin_N,superfamily_ARM repeat ENSG00000214890 0 genome.wustl.edu 37 5 78296400 78296400 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000399189 -1 known p.S115L 0.000 189 0% 89 34.8% - - - - - NULL DMGDH 29958 genome.wustl.edu 37 5 78329213 78329213 + Silent SNP A A C rs117591962 byFrequency;by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013391.2 -1 reviewed p.A404 0.998 388 0% 245 22.4% - - benign(0.002) deleterious(0) neutral(0.445) HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain ENSG00000201955 0 genome.wustl.edu 37 5 78466126 78466126 + RNA SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000365085 -1 novel NULL 0.415 15 0% 14 28.6% - - - - - - JMY 133746 genome.wustl.edu 37 5 78596080 78596080 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152405.4 +1 validated p.I544 0.995 238 0% 137 35% - - - - - NULL CMYA5 202333 genome.wustl.edu 37 5 79028240 79028240 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153610.3 +1 validated p.A1218S 0.039 118 0% 44 25% - - possibly_damaging(0.744) deleterious(0.01) deleterious(0.679) NULL CMYA5 202333 genome.wustl.edu 37 5 79028295 79028295 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153610.3 +1 validated p.S1236F 0.006 70 0% 36 33.3% - - benign(0.049) deleterious(0) neutral(0.448) NULL CMYA5 202333 genome.wustl.edu 37 5 79028537 79028537 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153610.3 +1 validated p.H1317Y 0.001 177 0% 92 35.9% - - benign(0.173) deleterious(0.04) neutral(0.365) NULL CMYA5 202333 genome.wustl.edu 37 5 79029828 79029828 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153610.3 +1 validated p.S1747Y 0.970 113 0% 58 13.8% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL CMYA5 202333 genome.wustl.edu 37 5 79030863 79030863 + Missense_Mutation SNP G G A rs143150177 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153610.3 +1 validated p.S2092N 0.000 70 0% 34 38.2% - - possibly_damaging(0.55) deleterious(0) deleterious(0.631) NULL CMYA5 202333 genome.wustl.edu 37 5 79032270 79032270 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153610.3 +1 validated p.S2561Y 0.026 246 0% 116 37.9% - - probably_damaging(0.991) tolerated(0.07) deleterious(0.763) NULL CMYA5 202333 genome.wustl.edu 37 5 79033245 79033245 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153610.3 +1 validated p.S2886Y 0.013 124 0% 56 39.3% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL CMYA5 202333 genome.wustl.edu 37 5 79033520 79033520 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153610.3 +1 validated p.E2978* 1.000 30 0% 15 46.7% - - - - - NULL ZFYVE16 9765 genome.wustl.edu 37 5 79743871 79743871 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105251.1 +1 validated p.H917Q 0.331 168 0% 88 36.4% - - benign(0.064) tolerated(0.17) neutral(0.063) NULL FAM151B 167555 genome.wustl.edu 37 5 79817946 79817946 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_205548.1 +1 predicted p.K220N 0.961 245 0% 135 43% - - benign(0.014) tolerated(0.65) neutral(0.004) HMMPfam_DUF2181 DHFR 1719 genome.wustl.edu 37 5 79945254 79945254 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000791.3 -1 reviewed p.R66* 1.000 248 0% 104 37.5% - - - - - HMMPfam_DHFR_1,superfamily_Dihydrofolate reductases MSH3 4437 genome.wustl.edu 37 5 80021366 80021366 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002439.3 +1 reviewed p.D479Y 0.980 339 0% 211 37.4% - - benign(0.049) deleterious(0.01) neutral(0.409) HMMPfam_MutS_II,superfamily_DNA repair protein MutS domain II RASGRF2 5924 genome.wustl.edu 37 5 80409652 80409652 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006909.1 +1 validated p.P795T 1.000 292 0% 156 42.3% - - benign(0.002) tolerated(0.52) neutral(0.009) HMMPfam_RasGEF_N,superfamily_Ras GEF RASGRF2 5924 genome.wustl.edu 37 5 80502689 80502689 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006909.1 +1 validated p.D978Y 1.000 593 0.2% 359 37.3% - - probably_damaging(1) tolerated(0.22) deleterious(0.542) superfamily_Ras GEF ACOT12 134526 genome.wustl.edu 37 5 80631635 80631635 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_130767.2 -1 validated p.R405H 0.011 222 0% 100 29% - - benign(0) tolerated(0.63) neutral(0.004) HMMPfam_START,superfamily_Bet v1-like ACOT12 134526 genome.wustl.edu 37 5 80655779 80655779 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_130767.2 -1 validated p.R147* 0.994 567 0% 269 31.6% - - - - - NULL VCAN 1462 genome.wustl.edu 37 5 82815578 82815578 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004385.4 +1 reviewed p.E485* 0.012 261 0% 98 35.7% - - - - - NULL VCAN 1462 genome.wustl.edu 37 5 82835349 82835349 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004385.4 +1 reviewed p.S2176Y 0.688 107 0% 41 34.1% - - benign(0.396) - - NULL VCAN 1462 genome.wustl.edu 37 5 82837831 82837831 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004385.4 +1 reviewed p.T3003 0.000 173 0% 90 41.1% - - - - - NULL EDIL3 10085 genome.wustl.edu 37 5 83259123 83259123 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005711.3 -1 reviewed p.D398 1.000 393 0% 162 31.5% - - - - - HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like CCNH 902 genome.wustl.edu 37 5 86700665 86700665 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001239.2 -1 reviewed p.E229K 1.000 211 0% 91 19.8% - - possibly_damaging(0.833) tolerated(0.05) deleterious(0.663) superfamily_Cyclin_like TMEM161B 153396 genome.wustl.edu 37 5 87536731 87536731 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153354.3 -1 provisional p.G2 1.000 160 0% 71 38% - - - - - HMMPfam_Tmemb_161AB MEF2C 4208 genome.wustl.edu 37 5 88018626 88018626 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000506554 -1 known p.R382* 1.000 445 0% 216 36.1% - - - - - NULL LYSMD3 116068 genome.wustl.edu 37 5 89815034 89815034 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198273.1 -1 validated p.T175A 1.000 626 0% 330 28.5% - - possibly_damaging(0.613) tolerated(0.12) deleterious(0.473) NULL GPR98 84059 genome.wustl.edu 37 5 89923058 89923058 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032119.3 +1 reviewed p.Q235K 0.272 88 0% 35 20% - - benign(0.01) tolerated(0.85) neutral(0.001) HMMPfam_Calx-beta,HMMSmart_SM00237 GPR98 84059 genome.wustl.edu 37 5 89949444 89949444 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000504142 +1 known p.N940D 0.994 411 0% 243 35.8% - - - - - superfamily_Concanavalin A-like lectins/glucanases GPR98 84059 genome.wustl.edu 37 5 89953737 89953737 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032119.3 +1 reviewed p.R1465I 1.000 367 0% 157 38.9% - - probably_damaging(0.996) tolerated(0.19) deleterious(0.511) superfamily_Concanavalin A-like lectins/glucanases GPR98 84059 genome.wustl.edu 37 5 89985766 89985766 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032119.3 +1 reviewed p.I2193 1.000 299 0% 120 37.5% - - - - - HMMPfam_Calx-beta,HMMSmart_SM00237 GPR98 84059 genome.wustl.edu 37 5 89990344 89990344 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032119.3 +1 reviewed p.E2591K 0.815 651 0% 346 24.9% - - benign(0.005) tolerated(0.43) neutral(0.013) HMMSmart_SM00237 GPR98 84059 genome.wustl.edu 37 5 90008155 90008155 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032119.3 +1 reviewed p.L3032F 1.000 254 0% 111 37.8% - - benign(0.001) tolerated(0.24) neutral(0.037) HMMPfam_Calx-beta,HMMSmart_SM00237 GPR98 84059 genome.wustl.edu 37 5 90087050 90087050 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032119.3 +1 reviewed p.R4802* 0.112 176 0% 132 37.9% - - - - - NULL GPR98 84059 genome.wustl.edu 37 5 90098643 90098643 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032119.3 +1 reviewed p.L4869F 0.913 388 0% 227 37% - - possibly_damaging(0.63) tolerated(0.18) neutral(0.276) NULL ARRDC3 57561 genome.wustl.edu 37 5 90669614 90669614 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020801.2 -1 validated p.R359W 1.000 422 0% 258 30.2% - - possibly_damaging(0.862) deleterious(0.02) deleterious(0.716) NULL ARRDC3 57561 genome.wustl.edu 37 5 90670775 90670775 + Silent SNP G G A rs187417675 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020801.2 -1 validated p.L278 0.280 201 0% 107 40.2% - - - - - HMMPfam_Arrestin_C,superfamily_Ig_E-set POU5F2 134187 genome.wustl.edu 37 5 93076769 93076769 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153216.1 -1 provisional p.F167 0.975 304 0% 198 36.4% - - - - - HMMPfam_Pou,HMMSmart_POU,PatternScan_POU_2,superfamily_Lambda_like_DNA FAM172A 83989 genome.wustl.edu 37 5 93111937 93111937 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032042.5 -1 validated p.W346R 1.000 206 0% 115 37.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Arb2 FAM172A 83989 genome.wustl.edu 37 5 93294605 93294605 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032042.5 -1 validated p.Q148H 1.000 265 0% 125 15.2% - - benign(0.001) tolerated(0.35) neutral(0.021) HMMPfam_Arb2 KIAA0825 285600 genome.wustl.edu 37 5 93856405 93856405 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145678.1 -1 validated p.V173A 0.998 488 0% 217 30.9% - - possibly_damaging(0.822) tolerated(0.09) deleterious(0.607) NULL MCTP1 79772 genome.wustl.edu 37 5 94043260 94043260 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024717.4 -1 validated p.E981* 1.000 558 0% 289 31.8% - - - - - NULL TTC37 9652 genome.wustl.edu 37 5 94838673 94838673 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014639.2 -1 provisional p.E1084 1.000 495 0% 253 35.2% - - - - - HMMPfam_TPR_1,HMMSmart_TPR,superfamily_Prenyl_trans TTC37 9652 genome.wustl.edu 37 5 94861373 94861373 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014639.2 -1 provisional p.S380F 0.995 110 0% 43 30.2% - - possibly_damaging(0.455) tolerated(0.54) neutral(0.157) NULL RFESD 317671 genome.wustl.edu 37 5 94988830 94988830 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001131065.1 +1 validated p.L24I 0.290 671 0% 306 31.4% - - benign(0.224) - - NULL ELL2 22936 genome.wustl.edu 37 5 95224606 95224606 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012081.5 -1 validated p.F631S 1.000 210 0% 82 34.1% - - unknown(0) deleterious(0) - HMMPfam_Occludin_ELL PCSK1 5122 genome.wustl.edu 37 5 95734733 95734733 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000439.4 -1 reviewed p.K480Q 1.000 351 0% 200 30.5% - - benign(0.082) tolerated(0.52) neutral(0.015) superfamily_Gal_bind_like PCSK1 5122 genome.wustl.edu 37 5 95757661 95757661 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000439.4 -1 reviewed e5-1 1.000 163 0% 80 37.5% - - - - - - CAST 831 genome.wustl.edu 37 5 96073607 96073607 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001750.5 +1 reviewed p.E252* 0.928 336 0% 153 40.5% - - - - - HMMPfam_Calpain_inhib CAST 831 genome.wustl.edu 37 5 96079433 96079433 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173061.2 +1 reviewed p.R35C 0.001 309 0% 146 31.5% - - possibly_damaging(0.638) tolerated(0.07) deleterious(0.542) NULL RIOK2 55781 genome.wustl.edu 37 5 96503484 96503484 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018343.2 -1 validated p.S362A 0.000 159 0% 120 42.5% - - benign(0.002) tolerated(0.55) neutral(0.007) NULL CHD1 1105 genome.wustl.edu 37 5 98232900 98232900 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001270.2 -1 reviewed p.C497Y 1.000 182 0% 87 33.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases GIN1 54826 genome.wustl.edu 37 5 102440361 102440361 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017676.2 -1 validated p.L175 1.000 229 0% 145 37.2% - - - - - HMMPfam_rve,superfamily_Ribonuclease H-like PPIP5K2 23262 genome.wustl.edu 37 5 102530629 102530629 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015216.2 +1 provisional p.I1153 0.031 277 0% 128 26.6% - - - - - NULL NUDT12 83594 genome.wustl.edu 37 5 102887996 102887996 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031438.2 -1 validated p.C400 1.000 562 0% 356 35.7% - - - - - HMMPfam_NUDIX,superfamily_Nudix EFNA5 1946 genome.wustl.edu 37 5 106722984 106722984 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001962.2 -1 reviewed p.R173C 1.000 228 0% 100 34% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TMEM232 642987 genome.wustl.edu 37 5 109760569 109760569 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039763.3 -1 validated p.L502I 0.999 278 0% 145 42.1% - - unknown(0) tolerated(0.32) - NULL EPB41L4A 64097 genome.wustl.edu 37 5 111504758 111504758 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022140.3 -1 validated p.R595Q 0.963 342 0% 199 16.1% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL EPB41L4A 64097 genome.wustl.edu 37 5 111754709 111754709 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022140.3 -1 validated p.E10* 1.000 193 0% 96 31.2% - - - - - HMMSmart_SM00295,superfamily_Ubiquitin-like APC 324 genome.wustl.edu 37 5 112174521 112174521 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000038.4 +1 reviewed p.V1077D 0.000 209 0% 73 35.6% - - benign(0.086) deleterious(0.01) neutral(0.412) NULL APC 324 genome.wustl.edu 37 5 112175184 112175184 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000038.4 +1 reviewed p.S1298Y 0.747 118 0% 49 36.7% - - benign(0.313) deleterious(0.01) deleterious(0.503) NULL APC 324 genome.wustl.edu 37 5 112177901 112177901 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000038.4 +1 reviewed p.R2204* 0.999 120 0% 49 20.4% - - - - - NULL APC 324 genome.wustl.edu 37 5 112178682 112178682 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000038.4 +1 reviewed p.S2464Y 0.995 186 0% 99 31.3% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_APC_basic SRP19 6728 genome.wustl.edu 37 5 112203166 112203166 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003135.1 +1 provisional p.G123* 1.000 446 0% 148 19.6% - - - - - NULL ZRSR1 7310 genome.wustl.edu 37 5 112228179 112228179 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000391338 +1 known p.S281 1.000 535 0% 290 37.9% - - - - - HMMSmart_RRM,superfamily_SSF54928 REEP5 7905 genome.wustl.edu 37 5 112257840 112257840 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005669.4 -1 validated p.K16N 1.000 69 0% 57 45.6% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL DCP2 167227 genome.wustl.edu 37 5 112327881 112327881 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152624.4 +1 validated p.W90* 1.000 505 0% 257 30% - - - - - HMMPfam_DCP2,superfamily_Nudix DCP2 167227 genome.wustl.edu 37 5 112328378 112328378 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152624.4 +1 validated p.V115I 1.000 349 0% 154 38.3% - - possibly_damaging(0.943) deleterious(0.01) deleterious(0.793) HMMPfam_NUDIX,superfamily_Nudix MCC 4163 genome.wustl.edu 37 5 112479008 112479008 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001085377.1 -1 reviewed p.T264M 1.000 108 0% 76 32.9% - - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) NULL TSSK1B 83942 genome.wustl.edu 37 5 112770239 112770239 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032028.3 -1 validated p.E100* 0.001 221 0% 144 32.6% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KCNN2 3781 genome.wustl.edu 37 5 113831648 113831648 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021614.2 +1 reviewed p.F503 0.997 174 0% 87 28.7% - - - - - NULL TRIM36 55521 genome.wustl.edu 37 5 114513447 114513447 + Nonstop_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017398.1 -1 reviewed p.*62Y 0.002 204 0% 127 40.2% - - - - - NULL FEM1C 56929 genome.wustl.edu 37 5 114861238 114861238 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020177.2 -1 validated p.K207N 1.000 299 0% 200 23% - - benign(0.06) tolerated(0.4) neutral(0.020) HMMSmart_ANK,superfamily_ANK TICAM2 353376 genome.wustl.edu 37 5 114916356 114916356 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021649.5 -1 validated p.R200C 0.005 276 0% 122 27.9% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_TIR TICAM2 353376 genome.wustl.edu 37 5 114916495 114916495 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021649.5 -1 validated p.F153L 0.956 221 0% 123 43.1% - - possibly_damaging(0.574) tolerated(0.19) neutral(0.246) superfamily_TIR CDO1 1036 genome.wustl.edu 37 5 115152019 115152019 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001801.2 -1 validated p.D26N 1.000 114 1.8% 95 43.2% - - benign(0) tolerated(0.21) neutral(0.044) HMMPfam_CDO_I DTWD2 285605 genome.wustl.edu 37 5 118183855 118183855 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173666.2 -1 validated p.R219I 1.000 150 0% 70 30% - - benign(0.004) tolerated(0.43) neutral(0.013) HMMPfam_DTW DMXL1 1657 genome.wustl.edu 37 5 118485283 118485283 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005509.4 +1 validated p.S1254L 1.000 162 0% 104 23.1% - - possibly_damaging(0.95) tolerated(0.2) neutral(0.443) NULL DMXL1 1657 genome.wustl.edu 37 5 118487711 118487711 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005509.4 +1 validated p.R1561Q 1.000 500 0.4% 269 30.5% - - probably_damaging(0.968) deleterious(0.03) deleterious(0.774) NULL DMXL1 1657 genome.wustl.edu 37 5 118533562 118533562 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005509.4 +1 validated p.I2552 0.002 213 0% 138 30.4% - - - - - superfamily_WD40 repeat-like DMXL1 1657 genome.wustl.edu 37 5 118574725 118574725 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005509.4 +1 validated p.F2846L 1.000 333 0% 174 29.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like HSD17B4 3295 genome.wustl.edu 37 5 118813124 118813124 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000414.2 +1 reviewed p.R121K 0.980 178 0% 62 27.4% - - benign(0.006) tolerated(0.37) neutral(0.019) HMMPfam_adh_short,superfamily_NAD(P)-bd HSD17B4 3295 genome.wustl.edu 37 5 118877663 118877663 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000414.2 +1 reviewed p.I729V 1.000 96 0% 71 35.2% - - benign(0.023) tolerated(0.32) neutral(0.025) HMMPfam_SCP2,superfamily_SCP2 PRR16 51334 genome.wustl.edu 37 5 120021930 120021930 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016644.1 +1 provisional p.V124 0.039 157 0.6% 101 14.9% - - - - - NULL SNCAIP 9627 genome.wustl.edu 37 5 121759012 121759012 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005460.2 +1 reviewed p.T194A 0.000 102 0% 63 36.5% - - benign(0) tolerated(0.78) neutral(0.001) NULL PRDM6 93166 genome.wustl.edu 37 5 122491682 122491682 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136239.1 +1 validated p.Q335H 1.000 339 0% 169 39.1% - - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain ZNF608 57507 genome.wustl.edu 37 5 123979972 123979972 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020747.2 -1 validated p.R1363Q 1.000 278 0% 170 32.4% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ZNF608 57507 genome.wustl.edu 37 5 123982957 123982957 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020747.2 -1 validated p.K1040N 1.000 252 0% 141 33.3% - - benign(0.411) tolerated(0.11) neutral(0.405) NULL PHAX 51808 genome.wustl.edu 37 5 125952952 125952952 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032177.2 +1 validated p.R281Q 1.000 255 0% 148 11.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RNA_GG_bind MEGF10 84466 genome.wustl.edu 37 5 126667011 126667011 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032446.2 +1 validated p.S4Y 1.000 354 0.3% 141 29.1% - - benign(0) tolerated(0.19) neutral(0.050) NULL PRRC1 133619 genome.wustl.edu 37 5 126883689 126883689 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000442138 +1 known p.G402S 0.000 182 0% 112 33% - - benign(0.005) - - NULL SLC12A2 6558 genome.wustl.edu 37 5 127497359 127497359 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001046.2 +1 validated p.R828Q 1.000 101 0% 49 42.9% - - probably_damaging(0.973) tolerated(0.37) neutral(0.434) NULL SLC12A2 6558 genome.wustl.edu 37 5 127518629 127518629 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001046.2 +1 validated p.E1099* 1.000 278 0% 115 27% - - - - - NULL FBN2 2201 genome.wustl.edu 37 5 127615904 127615904 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001999.3 -1 reviewed p.S2373Y 1.000 263 0% 133 33.1% - - possibly_damaging(0.76) tolerated(0.25) neutral(0.318) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin FBN2 2201 genome.wustl.edu 37 5 127713541 127713541 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001999.3 -1 reviewed p.L585I 1.000 265 0% 137 38.7% - - benign(0.078) tolerated(0.69) neutral(0.007) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin SLC27A6 28965 genome.wustl.edu 37 5 128326135 128326135 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017372.1 +1 reviewed p.R316H 1.000 506 0% 214 30.4% - - possibly_damaging(0.574) deleterious(0.02) deleterious(0.580) HMMPfam_AMP-binding,superfamily_SSF56801 ADAMTS19 171019 genome.wustl.edu 37 5 128983473 128983473 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133638.3 +1 reviewed p.E624* 1.000 168 0% 122 28.7% - - - - - HMMSmart_SM00608 ADAMTS19 171019 genome.wustl.edu 37 5 129001247 129001247 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133638.3 +1 reviewed p.E821D 0.999 417 0.2% 183 37.7% - - probably_damaging(0.998) tolerated(0.1) deleterious(0.761) HMMPfam_ADAM_spacer1 HINT1 3094 genome.wustl.edu 37 5 130498252 130498252 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000506908 -1 known p.L77I 0.816 252 0% 170 34.7% - - benign(0.024) tolerated(0.22) neutral(0.043) HMMPfam_HIT RAPGEF6 51735 genome.wustl.edu 37 5 130775333 130775333 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016340.5 -1 validated p.S1229Y 0.998 357 0% 201 32.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RAPGEF6 51735 genome.wustl.edu 37 5 130815407 130815407 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016340.5 -1 validated p.S627F 1.000 467 0% 229 34.5% - - possibly_damaging(0.846) deleterious(0) deleterious(0.770) superfamily_Ras GEF RAD50 10111 genome.wustl.edu 37 5 131927606 131927606 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005732.3 +1 reviewed p.R558M 1.000 95 0% 21 23.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases RAD50 10111 genome.wustl.edu 37 5 131953967 131953967 + Nonsense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000455677 +1 known p.L2* 1.000 205 0% 82 40.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL IL4 3565 genome.wustl.edu 37 5 132018273 132018273 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000589.2 +1 reviewed p.S152 0.000 237 0% 103 29.1% - - - - - HMMSmart_SM00190,superfamily_4-helical cytokines KIF3A 11127 genome.wustl.edu 37 5 132051452 132051452 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007054.5 -1 validated p.E376* 1.000 303 0% 141 28.4% - - - - - NULL AFF4 27125 genome.wustl.edu 37 5 132232040 132232040 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014423.3 -1 validated p.S761F 1.000 413 0% 213 32.4% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_AF-4 HSPA4 3308 genome.wustl.edu 37 5 132387961 132387961 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002154.3 +1 validated p.D7Y 1.000 20 0% 16 37.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HSP70,superfamily_SSF53067 PPP2CA 5515 genome.wustl.edu 37 5 133536760 133536760 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002715.2 -1 reviewed p.F164L 1.000 233 0% 116 13.8% - - possibly_damaging(0.728) deleterious(0.02) deleterious(0.648) HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases CDKL3 51265 genome.wustl.edu 37 5 133695617 133695617 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001113575.1 -1 reviewed p.R111* 1.000 350 0% 197 29.9% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CDKL3 51265 genome.wustl.edu 37 5 133702143 133702143 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001113575.1 -1 reviewed p.K24N 1.000 345 0% 225 32% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase DDX46 9879 genome.wustl.edu 37 5 134130565 134130565 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014829.2 +1 reviewed p.R551H 1.000 538 0% 332 32.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 FBXL21 26223 genome.wustl.edu 37 5 135276973 135276973 + Silent SNP C C T rs189150676 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012159.4 +1 validated p.F306 0.905 277 0% 152 32.9% - - - - - superfamily_RNI-like FBXL21 26223 genome.wustl.edu 37 5 135277121 135277121 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012159.4 +1 validated p.E356* 1.000 314 0% 153 32.7% - - - - - superfamily_RNI-like LECT2 3950 genome.wustl.edu 37 5 135283132 135283132 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002302.2 -1 reviewed p.K115T 1.000 397 0% 180 32.8% - - possibly_damaging(0.48) deleterious(0.02) deleterious(0.542) HMMPfam_Peptidase_M23 TRPC7 57113 genome.wustl.edu 37 5 135587470 135587470 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000378459 -1 known p.R421C 0.992 105 0% 63 42.9% - - - - - HMMPfam_Ion_trans SPOCK1 6695 genome.wustl.edu 37 5 136448205 136448205 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004598.3 -1 reviewed p.S131 0.684 226 0% 115 35.7% - - - - - superfamily_SSF100895 BRD8 10902 genome.wustl.edu 37 5 137486592 137486592 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139199.1 -1 reviewed p.E988K 0.732 401 0% 240 39.6% - - benign(0.158) deleterious(0) neutral(0.459) NULL CDC23 8697 genome.wustl.edu 37 5 137524780 137524780 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004661.3 -1 reviewed p.E561K 1.000 549 0% 309 35.3% - - possibly_damaging(0.494) tolerated(0.22) neutral(0.207) NULL FAM53C 51307 genome.wustl.edu 37 5 137681105 137681105 + Missense_Mutation SNP G G A rs34113804 byCluster;byFrequency TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135647.1 +1 validated p.R243H 1.000 75 0% 51 31.4% - - benign(0.002) - - NULL KDM3B 51780 genome.wustl.edu 37 5 137727282 137727282 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016604.3 +1 validated p.S654F 1.000 49 0% 22 40.9% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL KDM3B 51780 genome.wustl.edu 37 5 137761238 137761238 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016604.3 +1 validated p.R1460W 1.000 404 0% 184 38.6% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Clavaminate synthase-like REEP2 51308 genome.wustl.edu 37 5 137780448 137780448 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000512126 +1 known p.S141L 0.593 157 0% 116 23.3% - - - - - NULL EGR1 1958 genome.wustl.edu 37 5 137803249 137803249 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001964.2 +1 reviewed p.R371C 1.000 226 0.4% 139 37.4% - - unknown(0) deleterious(0) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ETF1 2107 genome.wustl.edu 37 5 137846286 137846286 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004730.2 -1 validated p.E351* 1.000 378 0% 212 10.8% - - - - - HMMPfam_eRF1_3,superfamily_L30e-like CTNNA1 1495 genome.wustl.edu 37 5 138160459 138160459 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001903.2 +1 validated p.E277* 1.000 255 0% 103 35.9% - - - - - HMMPfam_Vinculin LRRTM2 26045 genome.wustl.edu 37 5 138209199 138209199 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015564.2 -1 validated p.L351I 1.000 313 0% 197 35.5% - - probably_damaging(0.998) tolerated(0.35) deleterious(0.495) NULL LRRTM2 26045 genome.wustl.edu 37 5 138209345 138209345 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015564.2 -1 validated p.S302F 1.000 289 0% 136 30.1% - - possibly_damaging(0.787) deleterious(0) deleterious(0.739) superfamily_L domain-like LRRTM2 26045 genome.wustl.edu 37 5 138209446 138209446 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015564.2 -1 validated p.I268 0.981 268 0% 147 35.4% - - - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like CTNNA1 1495 genome.wustl.edu 37 5 138266343 138266343 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001903.2 +1 validated p.R731Q 1.000 207 0% 104 37.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin MATR3 9782 genome.wustl.edu 37 5 138643732 138643732 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018834.4 +1 reviewed p.E210* 1.000 432 0% 242 36.8% - - - - - NULL MATR3 9782 genome.wustl.edu 37 5 138644002 138644002 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018834.4 +1 reviewed p.V300I 1.000 60 0% 28 39.3% - - possibly_damaging(0.706) deleterious(0.02) deleterious(0.637) HMMSmart_ZnF_U1,HMMSmart_ZnF_C2H2 MATR3 9782 genome.wustl.edu 37 5 138650398 138650398 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018834.4 +1 reviewed p.S316N 1.000 543 0% 306 36.6% - - benign(0.196) tolerated(0.22) neutral(0.060) HMMSmart_ZnF_U1 SLC4A9 83697 genome.wustl.edu 37 5 139744061 139744061 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031467.2 +1 validated p.R501H 1.000 231 0% 213 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HCO3_cotransp ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139876500 139876500 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020690.4 +1 reviewed p.E881K 1.000 150 0% 70 30% - - benign(0.003) tolerated(0.35) neutral(0.021) superfamily_ANK ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139889762 139889762 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020690.4 +1 reviewed p.R1367H 1.000 175 0.6% 94 36.2% - - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK PCDHA1 56147 genome.wustl.edu 37 5 140165903 140165903 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018900.2 +1 reviewed p.G10* 0.001 141 0% 62 37.1% - - - - - NULL PCDHA1 56147 genome.wustl.edu 37 5 140167121 140167121 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018900.2 +1 reviewed p.E416K 0.994 159 0% 121 38% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA4 56144 genome.wustl.edu 37 5 140186917 140186917 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018907.2 +1 reviewed p.A49T 1.000 108 0% 74 45.9% - - possibly_damaging(0.677) deleterious(0) deleterious(0.685) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHA4 56144 genome.wustl.edu 37 5 140187433 140187433 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018907.2 +1 reviewed p.E221K 0.003 105 0% 49 34.7% - - benign(0.01) tolerated(0.09) neutral(0.297) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA4 56144 genome.wustl.edu 37 5 140187573 140187573 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018907.2 +1 reviewed p.S267 0.302 110 0% 65 32.3% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA4 56144 genome.wustl.edu 37 5 140187737 140187737 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018907.2 +1 reviewed p.G322D 0.392 72 0% 47 46.8% - - benign(0.318) deleterious(0) deleterious(0.544) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA5 56143 genome.wustl.edu 37 5 140201377 140201377 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018908.2 +1 reviewed p.R6I 0.766 197 0% 101 39.6% - - benign(0.024) deleterious(0) neutral(0.446) NULL PCDHA5 56143 genome.wustl.edu 37 5 140202705 140202705 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018908.2 +1 reviewed p.D449N 1.000 83 0% 85 10.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHA6 56142 genome.wustl.edu 37 5 140208418 140208418 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018909.2 +1 reviewed p.E248K 0.002 124 0% 64 26.6% - - benign(0.002) tolerated(1) - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHA7 56141 genome.wustl.edu 37 5 140215263 140215263 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018910.2 +1 reviewed p.S432L 0.004 100 0% 91 44% - - benign(0.008) tolerated(0.06) neutral(0.323) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA7 56141 genome.wustl.edu 37 5 140215428 140215428 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018910.2 +1 reviewed p.N487T 1.000 72 0% 68 32.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA9 9752 genome.wustl.edu 37 5 140228494 140228494 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031857.1 +1 reviewed p.K138N 0.008 195 0% 133 28.6% - - benign(0.055) tolerated(0.3) neutral(0.032) HMMPfam_Cadherin,superfamily_Cadherin-like LOC100288105 100288105 genome.wustl.edu 37 5 140242427 140242427 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342568.1 -1 model p.G183 0.551 19 0% 10 50% - - - - - NULL ENSG00000249608 0 genome.wustl.edu 37 5 140248602 140248602 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000512753 -1 known NULL 0.000 149 0% 86 32.6% - - - - - - PCDHA12 56137 genome.wustl.edu 37 5 140256006 140256006 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018903.2 +1 reviewed p.E317* 1.000 77 0% 41 46.3% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA13 56136 genome.wustl.edu 37 5 140263656 140263656 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018904.2 +1 reviewed p.S601 0.490 77 0% 67 41.8% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHAC1 56135 genome.wustl.edu 37 5 140308059 140308059 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018898.3 +1 reviewed p.R528W 0.821 166 0% 92 42.4% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHAC2 56134 genome.wustl.edu 37 5 140346907 140346907 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018899.5 +1 reviewed p.E186K 0.836 33 0% 33 18.2% - - benign(0) tolerated(0.42) neutral(0.014) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHAC2 56134 genome.wustl.edu 37 5 140347181 140347181 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018899.5 +1 reviewed p.V277A 0.994 81 0% 47 31.9% - - benign(0.025) tolerated(0.07) neutral(0.320) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHAC2 56134 genome.wustl.edu 37 5 140347844 140347844 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018899.5 +1 reviewed p.E498G 0.845 49 0% 25 24% - - benign(0.001) tolerated(0.5) neutral(0.010) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB1 29930 genome.wustl.edu 37 5 140432715 140432715 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013340.2 +1 reviewed p.D554Y 1.000 195 0% 126 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin PCDHB2 56133 genome.wustl.edu 37 5 140476467 140476467 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018936.2 +1 reviewed p.S698L 0.008 89 0% 79 10.1% - - probably_damaging(0.999) tolerated(0.34) deleterious(0.513) NULL PCDHB3 56132 genome.wustl.edu 37 5 140481092 140481092 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018937.2 +1 reviewed p.E287* 0.966 59 0% 29 37.9% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB3 56132 genome.wustl.edu 37 5 140482418 140482418 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018937.2 +1 reviewed p.E729K 0.577 174 0% 130 34.6% - - benign(0.017) tolerated(0.08) neutral(0.300) NULL PCDHB4 56131 genome.wustl.edu 37 5 140502213 140502213 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018938.2 +1 reviewed p.L211 0.002 214 0% 162 13% - - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB6 56130 genome.wustl.edu 37 5 140530007 140530007 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018939.2 +1 reviewed p.E57* 0.676 409 0% 214 29% - - - - - HMMSmart_CA,HMMPfam_Cadherin_2,superfamily_Cadherin PCDHB6 56130 genome.wustl.edu 37 5 140530730 140530730 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018939.2 +1 reviewed p.E298* 1.000 246 0% 116 33.6% - - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB6 56130 genome.wustl.edu 37 5 140530964 140530964 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018939.2 +1 reviewed p.N376D 0.640 218 0% 134 36.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB6 56130 genome.wustl.edu 37 5 140531956 140531956 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018939.2 +1 reviewed p.F706 0.043 114 0% 97 29.9% - - - - - NULL PCDHB8 56128 genome.wustl.edu 37 5 140558823 140558823 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019120.2 +1 reviewed p.T403I 0.063 811 0% 380 13.7% - - benign(0.058) tolerated(0.1) neutral(0.290) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB8 56128 genome.wustl.edu 37 5 140559405 140559405 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019120.2 +1 reviewed p.S597L 1.000 43 0% 60 15% - - possibly_damaging(0.874) deleterious(0) deleterious(0.784) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB16 57717 genome.wustl.edu 37 5 140562574 140562574 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020957.1 +1 reviewed p.P147H 0.000 86 0% 47 14.9% - - benign(0.002) tolerated(0.21) neutral(0.044) superfamily_Cadherin PCDHB11 56125 genome.wustl.edu 37 5 140580348 140580348 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018931.2 +1 reviewed p.I334T 0.000 223 0% 140 44.3% - - benign(0) deleterious(0.04) neutral(0.349) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB11 56125 genome.wustl.edu 37 5 140580620 140580620 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018931.2 +1 reviewed p.D425N 0.950 297 0% 120 13.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB12 56124 genome.wustl.edu 37 5 140588682 140588682 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018932.3 +1 reviewed p.S68Y 0.031 253 0% 155 38.7% - - possibly_damaging(0.931) tolerated(0.08) deleterious(0.677) HMMSmart_CA,HMMPfam_Cadherin_2,superfamily_Cadherin PCDHB12 56124 genome.wustl.edu 37 5 140589653 140589653 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018932.3 +1 reviewed p.V392M 0.000 182 0% 99 35.4% - - benign(0.001) tolerated(0.25) neutral(0.037) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB14 56122 genome.wustl.edu 37 5 140605055 140605055 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018934.2 +1 reviewed p.V660M 0.957 29 3.4% 28 42.9% - - benign(0.259) deleterious(0.02) neutral(0.410) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB14 56122 genome.wustl.edu 37 5 140605446 140605446 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018934.2 +1 reviewed p.R790Q 0.002 215 0% 129 44.2% - - benign(0.068) tolerated(0.16) neutral(0.064) NULL PCDHB15 56121 genome.wustl.edu 37 5 140625673 140625673 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018935.2 +1 reviewed p.S176Y 0.009 105 0% 48 43.8% - - possibly_damaging(0.626) deleterious(0.03) deleterious(0.583) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin SLC25A2 83884 genome.wustl.edu 37 5 140682754 140682754 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031947.2 -1 reviewed p.V227M 0.994 280 0% 192 28.1% - - benign(0.075) deleterious(0.01) neutral(0.411) superfamily_Mitoch_carrier,HMMPfam_Mito_carr SLC25A2 83884 genome.wustl.edu 37 5 140683342 140683342 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031947.2 -1 reviewed p.D31N 1.000 118 0% 61 42.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitoch_carrier,HMMPfam_Mito_carr PCDHGA1 56114 genome.wustl.edu 37 5 140711803 140711803 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018912.2 +1 reviewed p.R518* 0.216 197 0% 143 39.2% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA2 56113 genome.wustl.edu 37 5 140719945 140719945 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018915.2 +1 reviewed p.A469 0.973 467 0% 164 30.5% - - - - - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHGA2 56113 genome.wustl.edu 37 5 140720191 140720191 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018915.2 +1 reviewed p.F551 0.000 197 0% 112 30.4% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGA3 56112 genome.wustl.edu 37 5 140725734 140725734 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018916.3 +1 reviewed p.L712 0.160 210 0% 191 16.8% - - - - - NULL PCDHGB1 56104 genome.wustl.edu 37 5 140730136 140730136 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018922.2 +1 reviewed p.F103 0.658 228 0% 120 35% - - - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGB1 56104 genome.wustl.edu 37 5 140731399 140731399 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018922.2 +1 reviewed p.F524 0.832 33 0% 25 16% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA4 56111 genome.wustl.edu 37 5 140735595 140735595 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018917.2 +1 reviewed p.D276 0.991 119 0% 64 42.2% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA4 56111 genome.wustl.edu 37 5 140737183 140737183 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018917.2 +1 reviewed p.L806I 0.995 179 0% 88 23.9% - - - - - NULL PCDHGB2 56103 genome.wustl.edu 37 5 140740288 140740288 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018923.2 +1 reviewed p.L196I 0.775 114 0% 66 34.8% - - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB2 56103 genome.wustl.edu 37 5 140740557 140740557 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018923.2 +1 reviewed p.D285 0.000 144 0% 75 29.3% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB2 56103 genome.wustl.edu 37 5 140740759 140740759 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018923.2 +1 reviewed p.S353P 0.011 118 0% 73 43.8% - - benign(0.001) tolerated(0.22) neutral(0.042) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHGB3 56102 genome.wustl.edu 37 5 140751116 140751116 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018924.2 +1 reviewed p.Q385 0.000 192 0% 65 35.4% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA6 56109 genome.wustl.edu 37 5 140754561 140754561 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018919.2 +1 reviewed p.S304F 0.000 101 0% 67 25.4% - - benign(0.001) deleterious(0.04) neutral(0.349) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA6 56109 genome.wustl.edu 37 5 140755428 140755428 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018919.2 +1 reviewed p.A593V 1.000 64 0% 67 40.3% - - possibly_damaging(0.586) deleterious(0) deleterious(0.647) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA7 56108 genome.wustl.edu 37 5 140762750 140762750 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018920.2 +1 reviewed p.I95S 1.000 87 0% 55 41.8% - - benign(0.258) deleterious(0) deleterious(0.472) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGB4 8641 genome.wustl.edu 37 5 140767820 140767820 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003736.2 +1 reviewed p.I123 0.061 329 0% 188 28.7% - - - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGB4 8641 genome.wustl.edu 37 5 140768288 140768288 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003736.2 +1 reviewed p.F279L 0.989 139 0% 76 42.1% - - possibly_damaging(0.789) deleterious(0) deleterious(0.740) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA8 9708 genome.wustl.edu 37 5 140772474 140772474 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032088.1 +1 reviewed p.R32C 1.000 59 0% 35 45.7% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGA8 9708 genome.wustl.edu 37 5 140773249 140773249 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032088.1 +1 reviewed p.P290L 0.000 128 0% 67 38.8% - - benign(0) tolerated(0.34) neutral(0.023) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA8 9708 genome.wustl.edu 37 5 140773299 140773299 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032088.1 +1 reviewed p.L307I 0.000 120 0% 72 34.7% - - possibly_damaging(0.937) tolerated(0.32) neutral(0.407) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB5 56101 genome.wustl.edu 37 5 140777844 140777844 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018925.2 +1 reviewed p.L50 0.942 206 0% 128 23.4% - - - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGB5 56101 genome.wustl.edu 37 5 140778285 140778285 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018925.2 +1 reviewed p.E197 1.000 44 0% 21 42.9% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA9 56107 genome.wustl.edu 37 5 140783099 140783099 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018921.2 +1 reviewed p.L194M 1.000 82 0% 61 37.7% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA9 56107 genome.wustl.edu 37 5 140783691 140783691 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018921.2 +1 reviewed p.S391Y 0.010 131 0% 52 32.7% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA9 56107 genome.wustl.edu 37 5 140783747 140783747 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018921.2 +1 reviewed p.L410I 0.962 120 0% 51 25.5% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA9 56107 genome.wustl.edu 37 5 140784372 140784372 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018921.2 +1 reviewed p.S618L 0.000 81 0% 80 31.2% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB6 56100 genome.wustl.edu 37 5 140789909 140789909 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018926.2 +1 reviewed p.R714C 0.010 427 0% 317 36.9% - - benign(0.313) tolerated(0.09) neutral(0.394) NULL PCDHGA10 56106 genome.wustl.edu 37 5 140792769 140792769 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018913.2 +1 reviewed p.K9N 0.001 104 0% 41 22% - - benign(0.025) deleterious(0.04) neutral(0.350) NULL PCDHGA10 56106 genome.wustl.edu 37 5 140793453 140793453 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018913.2 +1 reviewed p.F237 0.038 44 0% 39 12.8% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGB7 56099 genome.wustl.edu 37 5 140799139 140799139 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018927.2 +1 reviewed p.G571 0.957 29 0% 29 37.9% - - - - - superfamily_Cadherin-like PCDHGA11 56105 genome.wustl.edu 37 5 140801451 140801451 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018914.2 +1 reviewed p.G219 0.972 63 0% 53 39.6% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA11 56105 genome.wustl.edu 37 5 140801943 140801943 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018914.2 +1 reviewed p.V383 0.008 95 0% 44 31.8% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA11 56105 genome.wustl.edu 37 5 140802373 140802373 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018914.2 +1 reviewed p.R527* 0.115 173 0% 145 13.1% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGC3 5098 genome.wustl.edu 37 5 140856608 140856608 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002588.2 +1 reviewed p.R309W 0.130 84 0% 56 26.8% - - probably_damaging(0.968) deleterious(0.02) deleterious(0.793) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGC4 56098 genome.wustl.edu 37 5 140865749 140865749 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018928.2 +1 reviewed p.R337* 0.499 83 0% 72 33.3% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGC4 56098 genome.wustl.edu 37 5 140867081 140867081 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018928.2 +1 reviewed p.R781W 1.000 113 0% 93 18.3% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL PCDHGC5 56097 genome.wustl.edu 37 5 140869500 140869500 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018929.2 +1 reviewed p.I231 0.000 161 0% 106 34% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like DIAPH1 1729 genome.wustl.edu 37 5 140908492 140908492 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005219.4 -1 reviewed p.R932Q 0.999 118 0% 70 37.1% - - unknown(0) tolerated(0.08) - HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) HDAC3 8841 genome.wustl.edu 37 5 141009679 141009679 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003883.3 -1 reviewed p.G99R 1.000 163 0% 119 35.3% - - possibly_damaging(0.668) deleterious(0) deleterious(0.681) HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase RELL2 285613 genome.wustl.edu 37 5 141018369 141018369 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130029.1 +1 validated p.D64 0.821 421 0% 284 34.5% - - - - - NULL NDFIP1 80762 genome.wustl.edu 37 5 141524217 141524217 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030571.3 +1 reviewed p.T215N 1.000 135 0% 56 23.2% - - probably_damaging(1) tolerated(0.18) deleterious(0.556) HMMPfam_DUF2370 NR3C1 2908 genome.wustl.edu 37 5 142658945 142658945 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001020825.1 -1 reviewed p.S738Y 0.491 668 0.1% 310 30.3% - - unknown(0) - - NULL KCTD16 57528 genome.wustl.edu 37 5 143586650 143586650 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020768.3 +1 validated p.D125N 0.990 152 0% 124 39.5% - - benign(0.01) tolerated(0.15) neutral(0.241) HMMSmart_BTB KCTD16 57528 genome.wustl.edu 37 5 143853578 143853578 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020768.3 +1 validated p.E396D 0.997 142 0% 43 27.9% - - probably_damaging(0.964) deleterious(0.02) deleterious(0.789) NULL GRXCR2 643226 genome.wustl.edu 37 5 145239395 145239395 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080516.1 -1 provisional p.F216L 1.000 56 0% 49 38.8% - - probably_damaging(0.995) tolerated(1) neutral(0.458) NULL GRXCR2 643226 genome.wustl.edu 37 5 145252280 145252280 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080516.1 -1 provisional p.R84 1.000 138 0% 91 36.3% - - - - - NULL TCERG1 10915 genome.wustl.edu 37 5 145887490 145887490 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006706.3 +1 reviewed p.R989* 1.000 305 0% 133 30.1% - - - - - HMMPfam_FF,HMMSmart_SM00441,superfamily_FF domain TCERG1 10915 genome.wustl.edu 37 5 145890187 145890187 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006706.3 +1 reviewed p.T1093 0.657 151 0% 73 32.9% - - - - - NULL PPP2R2B 5521 genome.wustl.edu 37 5 146077689 146077689 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181676.2 -1 reviewed p.R66C 1.000 256 0% 126 38.1% - - benign(0.006) deleterious(0.03) neutral(0.364) superfamily_WD40 repeat-like STK32A 202374 genome.wustl.edu 37 5 146658882 146658882 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001112724.1 +1 validated p.E61* 1.000 205 0% 105 34.3% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DPYSL3 1809 genome.wustl.edu 37 5 146781107 146781107 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001387.2 -1 validated p.A322S 1.000 176 0% 90 36.7% - - benign(0.003) tolerated(0.29) neutral(0.029) HMMPfam_Amidohydro_1,superfamily_Metalo_hydrolase,superfamily_SSF51556 JAKMIP2 9832 genome.wustl.edu 37 5 146997516 146997516 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014790.3 -1 provisional p.Q768 1.000 393 0% 323 11.5% - - - - - NULL JAKMIP2 9832 genome.wustl.edu 37 5 147028027 147028027 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014790.3 -1 provisional p.R283I 1.000 585 0% 315 33.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL JAKMIP2 9832 genome.wustl.edu 37 5 147040745 147040745 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014790.3 -1 provisional p.T131 0.987 137 0% 99 34.3% - - - - - NULL SPINK5 11005 genome.wustl.edu 37 5 147449950 147449950 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127698.1 +1 reviewed p.K49T 0.000 167 0% 83 45.8% - - possibly_damaging(0.609) deleterious(0) deleterious(0.655) HMMPfam_Kazal_2,superfamily_Kazal-type serine protease inhibitors SPINK5 11005 genome.wustl.edu 37 5 147475439 147475439 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127698.1 +1 reviewed p.E285* 0.350 204 0% 102 22.5% - - - - - NULL FBXO38 81545 genome.wustl.edu 37 5 147774397 147774397 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_205836.1 +1 validated p.E20* 0.984 396 0% 176 21.6% - - - - - NULL FBXO38 81545 genome.wustl.edu 37 5 147785891 147785891 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_205836.1 +1 validated p.E268K 1.000 246 0% 101 33.7% - - possibly_damaging(0.666) deleterious(0) deleterious(0.680) superfamily_RNI-like FBXO38 81545 genome.wustl.edu 37 5 147806853 147806853 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_205836.1 +1 validated p.E666K 1.000 136 0% 61 52.5% - - possibly_damaging(0.806) deleterious(0.03) deleterious(0.668) NULL SH3TC2 79628 genome.wustl.edu 37 5 148408262 148408262 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024577.3 -1 reviewed p.Q385H 1.000 321 0% 156 33.3% - - benign(0.345) deleterious(0) deleterious(0.553) NULL SH3TC2 79628 genome.wustl.edu 37 5 148431718 148431718 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024577.3 -1 reviewed p.Q46H 0.998 423 0% 220 35.9% - - possibly_damaging(0.861) deleterious(0) deleterious(0.778) NULL ABLIM3 22885 genome.wustl.edu 37 5 148637877 148637877 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014945.2 +1 validated p.F654L 1.000 243 0% 96 34.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_VHP,HMMSmart_SM00153,superfamily_VHP Villin headpiece domain AFAP1L1 134265 genome.wustl.edu 37 5 148687127 148687127 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152406.2 +1 validated p.F233S 1.000 64 0% 47 36.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SLC26A2 1836 genome.wustl.edu 37 5 149360123 149360123 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000112.3 +1 reviewed p.E323* 0.998 260 0% 200 33% - - - - - HMMPfam_Sulfate_transp CD74 972 genome.wustl.edu 37 5 149786732 149786732 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001025159.1 -1 validated p.R94H 0.964 224 0% 159 28.9% - - probably_damaging(0.972) tolerated(0.1) deleterious(0.700) HMMPfam_MHC2-interact NDST1 3340 genome.wustl.edu 37 5 149919692 149919692 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001543.4 +1 validated p.G539S 1.000 177 0% 119 38.7% - - probably_damaging(0.993) tolerated(0.15) deleterious(0.691) NULL SYNPO 11346 genome.wustl.edu 37 5 150029438 150029438 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007286.5 +1 validated p.R534Q 0.470 73 0% 37 21.6% - - possibly_damaging(0.837) tolerated(0.34) neutral(0.343) NULL RBM22 55696 genome.wustl.edu 37 5 150080537 150080537 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018047.2 -1 reviewed p.S4Y 1.000 120 0% 71 33.8% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL TNIP1 10318 genome.wustl.edu 37 5 150418783 150418783 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006058.3 -1 validated p.D380N 0.968 115 0% 86 39.5% - - possibly_damaging(0.719) tolerated(0.15) deleterious(0.502) NULL TNIP1 10318 genome.wustl.edu 37 5 150443195 150443195 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006058.3 -1 validated p.D84N 0.977 178 0% 102 42.2% - - benign(0.001) tolerated(0.22) neutral(0.042) NULL SLC36A2 153201 genome.wustl.edu 37 5 150726917 150726917 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181776.2 -1 validated p.S35 0.002 302 0.3% 147 42.2% - - - - - NULL FAT2 2196 genome.wustl.edu 37 5 150901612 150901612 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001447.2 -1 reviewed p.L3514 0.001 37 0% 33 24.2% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150925890 150925890 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001447.2 -1 reviewed p.E1600K 0.095 129 0% 75 37.3% - - benign(0.086) deleterious(0.05) neutral(0.352) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150931140 150931140 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001447.2 -1 reviewed p.I1395T 1.000 320 0% 236 31.8% - - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150946748 150946748 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001447.2 -1 reviewed p.S582L 0.001 132 0.8% 86 29.1% - - benign(0.032) tolerated(0.74) neutral(0.003) HMMPfam_Cadherin,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150946797 150946797 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001447.2 -1 reviewed p.E566* 0.997 104 0% 67 32.8% - - - - - superfamily_Cadherin-like G3BP1 10146 genome.wustl.edu 37 5 151169945 151169945 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005754.2 +1 reviewed p.D53N 1.000 173 0% 73 26% - - benign(0) tolerated(0.57) neutral(0.006) HMMPfam_NTF2,superfamily_NTF2-like G3BP1 10146 genome.wustl.edu 37 5 151183522 151183522 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005754.2 +1 reviewed p.R424Q 0.990 160 0% 87 20.7% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_RNA-binding domain RBD NMUR2 56923 genome.wustl.edu 37 5 151771983 151771983 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020167.4 -1 reviewed p.Q339 0.539 198 0% 111 38.7% - - - - - superfamily_Family A G protein-coupled receptor-like GALNT10 55568 genome.wustl.edu 37 5 153765900 153765900 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198321.3 +1 reviewed p.F322 0.997 214 0% 161 38.5% - - - - - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases LARP1 23367 genome.wustl.edu 37 5 154173269 154173269 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015315.3 +1 validated p.R208H 0.988 144 0% 80 13.8% - - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL LARP1 23367 genome.wustl.edu 37 5 154173497 154173497 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015315.3 +1 validated p.S259P 1.000 103 0% 85 36.5% - - benign(0.35) tolerated(0.29) neutral(0.140) NULL MRPL22 29093 genome.wustl.edu 37 5 154339543 154339543 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014180.3 +1 reviewed p.L115I 1.000 292 0% 127 37% - - probably_damaging(1) tolerated(0.66) deleterious(0.502) HMMPfam_Ribosomal_L22,superfamily_Ribosomal protein L22 SGCD 6444 genome.wustl.edu 37 5 156021975 156021975 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000337.5 +1 reviewed p.F139C 1.000 307 0% 178 41% - - possibly_damaging(0.894) deleterious(0) deleterious(0.796) HMMPfam_Sarcoglycan_1 HAVCR2 84868 genome.wustl.edu 37 5 156514244 156514244 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032782.3 -1 validated p.R259C 0.010 268 0% 151 27.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HAVCR2 84868 genome.wustl.edu 37 5 156515960 156515960 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032782.3 -1 validated p.Q235 0.963 453 0% 241 34% - - - - - NULL MED7 9443 genome.wustl.edu 37 5 156565988 156565988 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001100816.1 -1 reviewed p.R152I 1.000 374 0% 263 37.6% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_MED7 FAM71B 153745 genome.wustl.edu 37 5 156590265 156590265 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_130899.2 -1 validated p.S337 0.012 152 0% 98 32.7% - - - - - NULL CYFIP2 26999 genome.wustl.edu 37 5 156752630 156752630 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001037332.2 +1 validated p.E656* 1.000 204 0% 121 36.4% - - - - - HMMPfam_FragX_IP ADAM19 8728 genome.wustl.edu 37 5 156917389 156917389 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033274.2 -1 reviewed p.C723 0.982 469 0% 253 42.7% - - - - - NULL ADAM19 8728 genome.wustl.edu 37 5 156923938 156923938 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033274.2 -1 reviewed p.T520A 1.000 55 0% 32 34.4% - - probably_damaging(0.998) tolerated(0.06) deleterious(0.797) HMMPfam_ADAM_CR,HMMSmart_SM00608 CLINT1 9685 genome.wustl.edu 37 5 157214822 157214822 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014666.2 -1 validated p.P570 0.000 291 0% 229 36.2% - - - - - NULL CLINT1 9685 genome.wustl.edu 37 5 157233011 157233011 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014666.2 -1 validated p.E269* 1.000 867 0% 644 14.8% - - - - - NULL CLINT1 9685 genome.wustl.edu 37 5 157241238 157241238 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014666.2 -1 validated p.E103* 1.000 317 0% 196 37.2% - - - - - HMMPfam_ENTH,superfamily_ENTH/VHS domain,HMMSmart_SM00273 RNF145 153830 genome.wustl.edu 37 5 158601142 158601142 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144726.1 -1 provisional p.A244T 1.000 228 0% 76 32.9% - - benign(0.032) tolerated(0.1) neutral(0.288) NULL UBLCP1 134510 genome.wustl.edu 37 5 158696002 158696002 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145049.3 +1 validated p.D27N 1.000 281 0% 97 42.3% - - benign(0.209) tolerated(0.43) neutral(0.034) HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like FABP6 2172 genome.wustl.edu 37 5 159659239 159659239 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040442.1 +1 reviewed p.K117E 1.000 108 0% 43 58.1% - - benign(0.254) tolerated(0.26) neutral(0.060) HMMPfam_Lipocalin,superfamily_Calycin LOC727947 727947 genome.wustl.edu 37 5 159685312 159685312 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001126641.2 +1 model p.R18Q 0.479 131 0% 95 27.4% - - - - - HMMPfam_UCR_14kD,superfamily_14 kDa protein of cytochrome bc1 complex (Ubiquinol-cytochrome c reductase) C5orf54 63920 genome.wustl.edu 37 5 159822197 159822197 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022090.3 -1 validated p.L101 1.000 151 0% 77 42.9% - - - - - NULL MIR146A 406938 genome.wustl.edu 37 5 159912420 159912420 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000385201 +1 known NULL 1.000 195 0% 113 36.3% - - - - - - ATP10B 23120 genome.wustl.edu 37 5 160039853 160039853 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025153.2 -1 validated p.L911 0.999 133 0% 80 20% - - - - - superfamily_HAD-like ATP10B 23120 genome.wustl.edu 37 5 160047633 160047633 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025153.2 -1 validated p.P713S 0.029 59 0% 46 32.6% - - benign(0.003) tolerated(0.83) neutral(0.001) superfamily_HAD-like GABRB2 2561 genome.wustl.edu 37 5 160721115 160721115 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021911.2 -1 reviewed p.I504 0.988 352 0.3% 187 16.6% - - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRB2 2561 genome.wustl.edu 37 5 160972246 160972246 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021911.2 -1 reviewed p.S75Y 1.000 107 0% 80 31.2% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRA1 2554 genome.wustl.edu 37 5 161309581 161309581 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000806.5 +1 reviewed p.E193* 1.000 309 0% 163 34.4% - - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRG2 2566 genome.wustl.edu 37 5 161580182 161580182 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198903.2 +1 reviewed p.Y452 0.954 606 0.2% 294 33.7% - - - - - HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore CCNG1 900 genome.wustl.edu 37 5 162868320 162868320 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004060.3 +1 reviewed p.E167D 0.995 272 0% 87 29.9% - - benign(0) tolerated(0.26) neutral(0.034) NULL HMMR 3161 genome.wustl.edu 37 5 162898429 162898429 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142556.1 +1 reviewed p.E204K 0.000 280 0% 123 36.6% - - benign(0) tolerated(0.09) neutral(0.296) NULL HMMR 3161 genome.wustl.edu 37 5 162905753 162905753 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142556.1 +1 reviewed p.E444 0.932 351 0% 162 22.2% - - - - - NULL ENSG00000241956 0 genome.wustl.edu 37 5 164028282 164028282 + RNA SNP G G A rs112496644 byFrequency TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000486913 +1 known NULL 1.000 30 0% 25 40% - - - - - - ODZ2 57451 genome.wustl.edu 37 5 167630735 167630735 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001122679.1 +1 inferred p.L1149I 1.000 284 0% 157 17.8% - - probably_damaging(1) tolerated(0.13) deleterious(0.752) superfamily_Concanavalin A-like lectins/glucanases ODZ2 57451 genome.wustl.edu 37 5 167671440 167671440 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001122679.1 +1 inferred p.L1837I 1.000 219 0% 119 39.5% - - possibly_damaging(0.724) tolerated(0.06) deleterious(0.586) superfamily_Concanavalin A-like lectins/glucanases RARS 5917 genome.wustl.edu 37 5 167921646 167921646 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002887.3 +1 reviewed p.E190D 0.958 309 0% 170 34.7% - - benign(0) tolerated(0.54) neutral(0.007) HMMPfam_tRNA-synt_1d,superfamily_Nucleotidylyl transferase RARS 5917 genome.wustl.edu 37 5 167933122 167933122 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002887.3 +1 reviewed p.D385G 1.000 469 0.2% 231 42% - - probably_damaging(1) tolerated(0.36) deleterious(0.520) HMMPfam_tRNA-synt_1d,superfamily_Nucleotidylyl transferase RARS 5917 genome.wustl.edu 37 5 167937680 167937680 + Nonsense_Mutation SNP G G T rs148161788 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002887.3 +1 reviewed p.E481* 1.000 241 0% 91 27.5% - - - - - HMMPfam_tRNA-synt_1d,superfamily_Nucleotidylyl transferase RARS 5917 genome.wustl.edu 37 5 167944955 167944955 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002887.3 +1 reviewed p.K587N 1.000 186 0% 64 37.5% - - benign(0.02) tolerated(0.27) neutral(0.035) HMMPfam_DALR_1,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases SLIT3 6586 genome.wustl.edu 37 5 168199874 168199874 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003062.2 -1 validated p.I457 0.785 41 0% 50 54% - - - - - HMMSmart_SM00082,superfamily_RNI-like CCDC99 54908 genome.wustl.edu 37 5 169015448 169015448 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017785.4 +1 validated p.R10* 0.997 98 0% 55 34.5% - - - - - NULL CCDC99 54908 genome.wustl.edu 37 5 169021584 169021584 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017785.4 +1 validated p.R264* 1.000 452 0% 186 35.5% - - - - - NULL LCP2 3937 genome.wustl.edu 37 5 169720347 169720347 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005565.3 -1 reviewed p.V36 1.000 350 0% 164 35.4% - - - - - HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 KCNIP1 30820 genome.wustl.edu 37 5 170148874 170148874 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001034837.1 +1 reviewed p.F109 0.993 572 0.2% 339 36.9% - - - - - HMMSmart_SM00054,superfamily_EF-hand RANBP17 64901 genome.wustl.edu 37 5 170346564 170346564 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022897.2 +1 provisional p.E407D 1.000 432 0% 228 15.4% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) superfamily_ARM repeat EFCAB9 285588 genome.wustl.edu 37 5 171627665 171627665 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000398186 +1 known p.F127 0.001 362 0% 170 32.9% - - - - - superfamily_SSF47473 SH3PXD2B 285590 genome.wustl.edu 37 5 171766621 171766621 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017995.2 -1 validated p.R496 0.007 94 0% 81 37% - - - - - NULL DUSP1 1843 genome.wustl.edu 37 5 172195924 172195924 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004417.3 -1 reviewed p.P315 0.002 124 0% 94 39.4% - - - - - NULL ERGIC1 57222 genome.wustl.edu 37 5 172341857 172341857 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000326654 +1 known p.L86F 0.000 94 0% 98 43.9% - - unknown(0) - - NULL ERGIC1 57222 genome.wustl.edu 37 5 172377713 172377713 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031711.2 +1 reviewed p.I256T 1.000 99 0% 53 28.3% - - benign(0.243) deleterious(0.01) neutral(0.430) HMMPfam_DUF1692 RPL26L1 51121 genome.wustl.edu 37 5 172396461 172396461 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016093.2 +1 reviewed p.L119I 1.000 525 0.2% 256 26.2% - - benign(0.033) tolerated(0.45) neutral(0.013) superfamily_Translation proteins SH3-like domain C5orf47 133491 genome.wustl.edu 37 5 173416329 173416329 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144954.1 +1 validated p.F21 1.000 19 5.3% 39 35.9% - - - - - NULL HMP19 51617 genome.wustl.edu 37 5 173531268 173531268 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015980.3 +1 provisional p.A84V 1.000 557 0% 367 12.3% - - possibly_damaging(0.477) tolerated(0.25) neutral(0.195) HMMPfam_Calcyon HMP19 51617 genome.wustl.edu 37 5 173534402 173534402 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015980.3 +1 provisional p.S137N 1.000 104 0% 43 34.9% - - possibly_damaging(0.829) tolerated(0.98) neutral(0.315) HMMPfam_Calcyon LOC100127922 100127922 genome.wustl.edu 37 5 173988906 173988906 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342573.1 +1 model p.L87R 1.000 170 0% 63 27% - - - - - superfamily_Ubiquitin-like MSX2 4488 genome.wustl.edu 37 5 174156513 174156513 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002449.4 +1 reviewed p.R244I 1.000 71 0% 56 30.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL HRH2 3274 genome.wustl.edu 37 5 175110690 175110690 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001131055.1 +1 reviewed p.L152M 1.000 191 0% 136 31.6% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_7tm_1,superfamily_SSF81321 CPLX2 10814 genome.wustl.edu 37 5 175307103 175307103 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000393746 +1 known p.S135Y 1.000 92 0% 45 42.2% - - unknown(0) - - NULL THOC3 84321 genome.wustl.edu 37 5 175392019 175392019 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032361.2 -1 validated p.I188 1.000 707 0% 460 17.2% - - - - - superfamily_WD40_like ENSG00000251133 0 genome.wustl.edu 37 5 175722293 175722293 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000505928 -1 novel NULL 0.000 83 0% 41 43.9% - - - - - - HIGD2A 192286 genome.wustl.edu 37 5 175815925 175815925 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138820.2 +1 provisional p.F35L 1.000 150 0% 61 45.9% - - benign(0.02) tolerated(0.22) neutral(0.043) HMMPfam_HIG_1_N CLTB 1212 genome.wustl.edu 37 5 175819907 175819907 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000310418 -1 known p.E186 0.009 423 0% 292 32.5% - - - - - HMMPfam_Clathrin_lg_ch FAF2 23197 genome.wustl.edu 37 5 175875441 175875441 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014613.2 +1 reviewed p.Q11H 1.000 59 0% 54 40.7% - - possibly_damaging(0.836) tolerated(0.07) deleterious(0.639) superfamily_UBA_like FAF2 23197 genome.wustl.edu 37 5 175927107 175927107 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014613.2 +1 reviewed p.S372Y 1.000 190 0% 128 37.5% - - benign(0.186) deleterious(0.04) neutral(0.366) HMMPfam_UBX,superfamily_SSF54236 GPRIN1 114787 genome.wustl.edu 37 5 176025086 176025086 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052899.2 -1 validated p.P584S 0.000 111 0% 66 54.5% - - benign(0.082) tolerated(0.59) neutral(0.010) NULL GPRIN1 114787 genome.wustl.edu 37 5 176025512 176025512 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052899.2 -1 validated p.R442C 0.000 111 0% 63 36.5% - - benign(0) deleterious(0.02) neutral(0.383) NULL UIMC1 51720 genome.wustl.edu 37 5 176370378 176370378 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016290.3 -1 provisional p.R519* 0.595 410 0% 270 43.3% - - - - - NULL UIMC1 51720 genome.wustl.edu 37 5 176396116 176396116 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016290.3 -1 provisional p.V214I 0.198 104 0% 113 38.9% - - benign(0) deleterious(0) neutral(0.445) NULL NSD1 64324 genome.wustl.edu 37 5 176638202 176638202 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022455.4 +1 reviewed p.V934 0.827 287 0% 130 29.2% - - - - - NULL NSD1 64324 genome.wustl.edu 37 5 176673767 176673767 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022455.4 +1 reviewed p.D1489 0.001 210 0% 89 31.5% - - - - - NULL RAB24 53917 genome.wustl.edu 37 5 176729583 176729583 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031677.2 -1 validated p.E110K 1.000 221 0% 150 28% - - possibly_damaging(0.773) tolerated(0.05) deleterious(0.633) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 DBN1 1627 genome.wustl.edu 37 5 176884701 176884701 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080881.2 -1 reviewed p.L614I 1.000 208 0% 122 34.4% - - possibly_damaging(0.467) tolerated(0.33) neutral(0.177) NULL DDX41 51428 genome.wustl.edu 37 5 176941793 176941793 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016222.2 -1 reviewed p.R282C 1.000 29 0% 41 41.5% - - possibly_damaging(0.845) deleterious(0.04) deleterious(0.673) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM193B 54540 genome.wustl.edu 37 5 176951829 176951829 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019057.3 -1 validated p.G518 0.530 73 0% 53 34% - - - - - NULL LOC202181 202181 genome.wustl.edu 37 5 177059654 177059654 + RNA SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_026921.1 -1 predicted NULL 0.959 246 0% 142 38.7% - - - - - - RMND5B 64777 genome.wustl.edu 37 5 177574774 177574774 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022762.3 +1 provisional p.F336 0.086 260 0% 194 42.8% - - - - - superfamily_RING/U-box HNRNPAB 3182 genome.wustl.edu 37 5 177637225 177637225 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031266.2 +1 reviewed p.D294N 1.000 91 0% 70 38.6% - - unknown(0) tolerated(0.83) - NULL ZNF354A 6940 genome.wustl.edu 37 5 178139076 178139076 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005649.2 -1 validated p.I601 0.799 163 0.6% 87 31% - - - - - superfamily_SSF57667 ZNF354A 6940 genome.wustl.edu 37 5 178140480 178140480 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005649.2 -1 validated p.E133D 0.742 232 0% 129 37.2% - - benign(0) tolerated(0.32) neutral(0.024) NULL ZFP2 80108 genome.wustl.edu 37 5 178359347 178359347 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030613.2 +1 provisional p.R345W 1.000 198 0% 123 28.5% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000249299 0 genome.wustl.edu 37 5 178359872 178359872 + RNA SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000503510 -1 novel NULL 0.005 8 0.000 5 0.800 - - - - - - ZNF454 285676 genome.wustl.edu 37 5 178392705 178392705 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182594.2 +1 validated p.H434Y 1.000 249 0% 126 15.1% - - possibly_damaging(0.805) deleterious(0) deleterious(0.748) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GRM6 2916 genome.wustl.edu 37 5 178413548 178413548 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000843.3 -1 reviewed p.T569 0.266 25 0% 16 50% - - - - - NULL ZNF879 345462 genome.wustl.edu 37 5 178459520 178459520 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136116.1 +1 provisional p.L191I 0.895 226 0% 96 33.3% - - probably_damaging(0.996) tolerated(0.08) deleterious(0.762) superfamily_C2H2 and C2HC zinc fingers ZNF354C 30832 genome.wustl.edu 37 5 178505879 178505879 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014594.1 +1 provisional p.S149L 0.000 228 0% 80 37.5% - - benign(0.304) tolerated(0.25) neutral(0.132) NULL ADAMTS2 9509 genome.wustl.edu 37 5 178541287 178541287 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014244.2 -1 reviewed p.M1073V 1.000 176 0% 95 44.2% - - benign(0.406) deleterious(0.01) deleterious(0.536) NULL ENSG00000251657 0 genome.wustl.edu 37 5 178949769 178949769 + RNA SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000506689 -1 known NULL 0.068 66 0% 51 37.3% - - - - - - ENSG00000251657 0 genome.wustl.edu 37 5 178950281 178950281 + RNA SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000506689 -1 known NULL 0.007 99 0% 70 28.6% - - - - - - CANX 821 genome.wustl.edu 37 5 179155618 179155618 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001024649.1 +1 reviewed p.P584 1.000 155 0% 66 43.9% - - - - - NULL C5orf45 51149 genome.wustl.edu 37 5 179264449 179264449 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016175.3 -1 validated p.R325Q 0.000 121 0% 77 32.5% - - benign(0.002) tolerated(0.09) neutral(0.296) NULL GFPT2 9945 genome.wustl.edu 37 5 179743823 179743823 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005110.2 -1 provisional p.R365* 0.985 107 0% 67 44.8% - - - - - HMMPfam_SIS,superfamily_SSF53697 OR2Y1 134083 genome.wustl.edu 37 5 180167055 180167055 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001657.1 -1 provisional p.G2R 0.011 70 0% 44 38.6% - - benign(0.003) tolerated(0.08) neutral(0.300) superfamily_SSF81321 BTNL8 79908 genome.wustl.edu 37 5 180338566 180338566 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040462.2 +1 validated p.R209W 0.044 201 0% 104 37.5% - - possibly_damaging(0.727) deleterious(0) deleterious(0.709) HMMSmart_SM00409,superfamily_Immunoglobulin BTNL9 153579 genome.wustl.edu 37 5 180475237 180475237 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152547.4 +1 validated p.F140L 0.160 42 0% 37 43.2% - - probably_damaging(0.998) tolerated(0.41) deleterious(0.489) HMMSmart_SM00409,superfamily_Immunoglobulin OR2V1 26693 genome.wustl.edu 37 5 180552119 180552119 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000329365 -1 known p.F62 0.999 553 0% 264 20.5% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 IRF4 3662 genome.wustl.edu 37 6 393188 393188 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002460.2 +1 validated p.F12 1.000 23 0% 18 33.3% - - - - - NULL HUS1B 135458 genome.wustl.edu 37 6 656878 656878 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_148959.3 -1 reviewed p.V23I 0.000 34 0% 40 37.5% - - benign(0) tolerated(1) - HMMPfam_Hus1 MYLK4 340156 genome.wustl.edu 37 6 2689149 2689149 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012418.3 -1 validated p.V93M 0.999 303 0% 136 35.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Protein kinase-like (PK-like) SERPINB1 1992 genome.wustl.edu 37 6 2834048 2834048 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030666.2 -1 provisional p.D312Y 1.000 105 0% 64 17.2% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin BPHL 670 genome.wustl.edu 37 6 3129411 3129411 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004332.2 +1 reviewed p.E171K 0.790 190 0% 127 33.1% - - benign(0.274) tolerated(0.59) neutral(0.034) HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases BPHL 670 genome.wustl.edu 37 6 3140712 3140712 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004332.2 +1 reviewed p.D253N 0.966 140 0% 109 44% - - possibly_damaging(0.66) tolerated(0.64) neutral(0.236) HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases BPHL 670 genome.wustl.edu 37 6 3152779 3152779 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004332.2 +1 reviewed p.F282 1.000 396 0% 189 35.4% - - - - - HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases TUBB2B 347733 genome.wustl.edu 37 6 3225015 3225015 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178012.4 -1 reviewed p.F436 0.954 132 0% 109 28.4% - - - - - NULL TUBB2B 347733 genome.wustl.edu 37 6 3226475 3226475 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178012.4 -1 reviewed p.L65 0.999 193 0.5% 99 41.4% - - - - - HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like SLC22A23 63027 genome.wustl.edu 37 6 3289998 3289998 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015482.1 -1 validated p.S438L 1.000 254 0% 141 32.6% - - probably_damaging(0.999) tolerated(0.28) deleterious(0.522) HMMPfam_MFS_1,superfamily_MFS general substrate transporter PSMG4 389362 genome.wustl.edu 37 6 3290103 3290103 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000454610 +1 known p.A70S 1.000 219 0% 96 11.5% - - unknown(0) - - NULL SLC22A23 63027 genome.wustl.edu 37 6 3456238 3456238 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015482.1 -1 validated p.P186T 0.006 28 0% 30 33.3% - - benign(0.133) tolerated(0.41) neutral(0.026) NULL PRPF4B 8899 genome.wustl.edu 37 6 4057329 4057329 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003913.4 +1 reviewed p.E881K 1.000 432 0% 216 23.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FAM217A 222826 genome.wustl.edu 37 6 4069036 4069036 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173563.1 -1 predicted p.R474Q 0.622 219 0% 133 27.1% - - benign(0.036) tolerated(0.26) neutral(0.036) NULL ECI2 10455 genome.wustl.edu 37 6 4133943 4133943 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000380118 -1 known p.S18Y 0.000 342 0% 212 11.3% - - benign(0.285) deleterious(0.01) deleterious(0.493) NULL CDYL 9425 genome.wustl.edu 37 6 4735026 4735026 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000328908 +1 known p.S45N 0.000 106 0% 52 25% - - benign(0.067) tolerated(0.26) neutral(0.038) NULL RREB1 6239 genome.wustl.edu 37 6 7247294 7247294 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001003699.3 +1 reviewed p.E1537D 1.000 117 0% 31 29% - - probably_damaging(0.971) deleterious(0.02) deleterious(0.796) NULL LOC100288790 100288790 genome.wustl.edu 37 6 7290170 7290170 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342613.1 +1 model p.E74 0.976 190 0% 118 34.7% - - - - - NULL SSR1 6745 genome.wustl.edu 37 6 7295711 7295711 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003144.3 -1 reviewed p.R236K 1.000 309 0% 144 36.1% - - probably_damaging(0.995) tolerated(0.18) deleterious(0.514) HMMPfam_TRAP_alpha SSR1 6745 genome.wustl.edu 37 6 7313292 7313292 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003144.3 -1 reviewed p.F21S 0.980 181 0% 68 30.9% - - benign(0.004) tolerated(0.41) neutral(0.015) HMMPfam_TRAP_alpha CAGE1 285782 genome.wustl.edu 37 6 7365769 7365769 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_205864.2 -1 validated p.D546Y 0.008 390 0% 218 36.7% - - benign(0.001) deleterious(0.01) neutral(0.406) NULL DSP 1832 genome.wustl.edu 37 6 7558438 7558438 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004415.2 +1 reviewed p.L121 0.000 229 0% 138 42.8% - - - - - superfamily_Spectrin repeat DSP 1832 genome.wustl.edu 37 6 7568073 7568073 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004415.2 +1 reviewed p.R400 0.866 124 0% 82 40.2% - - - - - superfamily_Spectrin repeat TXNDC5 81567 genome.wustl.edu 37 6 7886244 7886244 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030810.2 -1 reviewed p.F332 0.993 318 0% 169 33.1% - - - - - superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin GCNT2 2651 genome.wustl.edu 37 6 10586384 10586384 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145655.3 +1 reviewed p.E54D 0.008 394 0% 202 28.7% - - benign(0.001) tolerated(0.78) neutral(0.001) NULL C6orf52 347744 genome.wustl.edu 37 6 10671715 10671715 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145020.1 -1 provisional p.E145K 0.000 290 0% 180 36.1% - - benign(0.15) tolerated(0.13) neutral(0.266) NULL PAK1IP1 55003 genome.wustl.edu 37 6 10702687 10702687 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017906.2 +1 validated p.K111N 1.000 256 0% 153 32% - - probably_damaging(0.986) tolerated(0.13) deleterious(0.687) superfamily_WD40_like MAK 4117 genome.wustl.edu 37 6 10809112 10809112 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005906.3 -1 reviewed p.I141S 1.000 267 0% 152 44.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase GCM2 9247 genome.wustl.edu 37 6 10874514 10874514 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004752.3 -1 reviewed p.S412L 0.007 333 0.3% 203 13.8% - - possibly_damaging(0.788) deleterious(0.03) deleterious(0.659) NULL SYCP2L 221711 genome.wustl.edu 37 6 10907843 10907843 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040274.2 +1 validated p.L249I 0.687 325 0% 141 31.2% - - possibly_damaging(0.68) tolerated(0.08) deleterious(0.542) NULL SYCP2L 221711 genome.wustl.edu 37 6 10910391 10910391 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040274.2 +1 validated p.R277H 0.000 209 0% 126 28.6% - - possibly_damaging(0.952) tolerated(0.13) deleterious(0.648) NULL SYCP2L 221711 genome.wustl.edu 37 6 10924816 10924816 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040274.2 +1 validated p.F387S 1.000 295 0% 139 38.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ELOVL2 54898 genome.wustl.edu 37 6 10995351 10995351 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017770.3 -1 validated p.F132I 1.000 212 0% 114 32.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ELO HIVEP1 3096 genome.wustl.edu 37 6 12122396 12122396 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002114.2 +1 validated p.D790Y 1.000 134 0% 82 31.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HIVEP1 3096 genome.wustl.edu 37 6 12124863 12124863 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002114.2 +1 validated p.S1612L 0.003 241 0% 173 31.2% - - possibly_damaging(0.856) tolerated(0.2) neutral(0.380) NULL HIVEP1 3096 genome.wustl.edu 37 6 12131076 12131076 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002114.2 +1 validated p.R2096C 1.000 387 0% 199 32.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 LOC100289173 100289173 genome.wustl.edu 37 6 12514627 12514627 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342615.1 -1 model p.S83 1.000 264 0% 107 35.5% - - - - - NULL TBC1D7 51256 genome.wustl.edu 37 6 13327055 13327055 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143964.1 -1 validated p.K26Q 1.000 302 0% 131 38.2% - - probably_damaging(0.963) deleterious(0.01) deleterious(0.811) superfamily_Ypt/Rab-GAP domain of gyp1p DTNBP1 84062 genome.wustl.edu 37 6 15627595 15627595 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032122.3 -1 reviewed p.E112* 1.000 129 0% 70 11.4% - - - - - NULL GMPR 2766 genome.wustl.edu 37 6 16247101 16247101 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006877.3 +1 reviewed p.R39Q 1.000 219 0% 116 35.3% - - probably_damaging(0.984) deleterious(0.01) deleterious(0.836) HMMPfam_IMPDH,superfamily_SSF51412 ATXN1 6310 genome.wustl.edu 37 6 16326649 16326649 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000332.3 -1 reviewed p.F631 0.945 157 0% 124 31.5% - - - - - HMMSmart_SM00536,HMMPfam_AXH,superfamily_AXH domain ATXN1 6310 genome.wustl.edu 37 6 16327258 16327258 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000332.3 -1 reviewed p.L428 1.000 88 0% 79 29.1% - - - - - NULL CAP2 10486 genome.wustl.edu 37 6 17507500 17507500 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006366.2 +1 reviewed p.S134L 0.998 216 0% 113 49.6% - - possibly_damaging(0.85) deleterious(0) deleterious(0.772) HMMPfam_CAP_N,superfamily_N-terminal domain of adenylylcyclase associated protein CAP NUP153 9972 genome.wustl.edu 37 6 17629522 17629522 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005124.2 -1 reviewed p.E970K 1.000 150 0% 52 26.9% - - probably_damaging(1) tolerated(0.3) deleterious(0.528) NULL NUP153 9972 genome.wustl.edu 37 6 17669757 17669757 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005124.2 -1 reviewed p.M291I 1.000 260 0% 105 32.4% - - benign(0.056) tolerated(1) neutral(0.004) HMMPfam_Nup153 KIF13A 63971 genome.wustl.edu 37 6 17780964 17780964 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000358380 -1 known p.N675S 0.695 331 0% 230 37.8% - - - - - NULL KIF13A 63971 genome.wustl.edu 37 6 17781504 17781504 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000358380 -1 known p.L585W 0.025 93 0% 81 27.2% - - - - - NULL KIF13A 63971 genome.wustl.edu 37 6 17788088 17788088 + Missense_Mutation SNP C C T rs192133963 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022113.4 -1 validated p.V1094I 0.986 832 0% 401 32.7% - - benign(0.106) tolerated(0.2) neutral(0.057) NULL KDM1B 221656 genome.wustl.edu 37 6 18207661 18207661 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153042.3 +1 validated p.F332L 1.000 314 0% 193 33.2% - - benign(0.428) tolerated(0.48) neutral(0.150) HMMPfam_Amino_oxidase,superfamily_SSF51905 CDKAL1 54901 genome.wustl.edu 37 6 20781494 20781494 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017774.3 +1 reviewed p.T212 0.494 307 0% 145 37.2% - - - - - PatternScan_UPF0004,HMMSmart_SM00729,HMMPfam_Radical_SAM,superfamily_Radical SAM enzymes CDKAL1 54901 genome.wustl.edu 37 6 20846376 20846376 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017774.3 +1 reviewed p.E237* 1.000 256 0% 91 40.7% - - - - - HMMSmart_SM00729,HMMPfam_Radical_SAM,superfamily_Radical SAM enzymes PRL 5617 genome.wustl.edu 37 6 22294638 22294638 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000948.4 -1 validated p.F68 0.997 169 0% 93 23.7% - - - - - HMMPfam_Hormone_1,superfamily_4-helical cytokines HDGFL1 154150 genome.wustl.edu 37 6 22570002 22570002 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138574.2 +1 provisional p.F66 1.000 161 0% 89 14.6% - - - - - HMMPfam_PWWP,superfamily_SSF63748 DCDC2 51473 genome.wustl.edu 37 6 24302242 24302242 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016356.3 -1 reviewed p.V127M 0.999 254 0% 157 34.4% - - probably_damaging(0.996) tolerated(0.13) deleterious(0.714) superfamily_Doublecortin (DC) GPLD1 2822 genome.wustl.edu 37 6 24447196 24447196 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001503.2 -1 reviewed p.V564M 0.965 196 0% 131 42.7% - - possibly_damaging(0.687) deleterious(0.03) deleterious(0.610) superfamily_Integrin alpha N-terminal domain GPLD1 2822 genome.wustl.edu 37 6 24486320 24486320 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001503.2 -1 reviewed p.R46C 0.408 256 0% 108 11.1% - - possibly_damaging(0.861) tolerated(0.17) neutral(0.392) NULL KIAA0319 9856 genome.wustl.edu 37 6 24563629 24563629 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014809.3 -1 reviewed p.S850L 0.910 95 0% 50 36% - - possibly_damaging(0.95) deleterious(0.02) deleterious(0.776) NULL ACOT13 55856 genome.wustl.edu 37 6 24698281 24698281 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018473.3 +1 reviewed p.V84 0.606 142 0% 61 44.3% - - - - - HMMPfam_4HBT,superfamily_Thioesterase/thiol ester dehydrase-isomerase ACOT13 55856 genome.wustl.edu 37 6 24701815 24701815 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018473.3 +1 reviewed p.G132V 1.000 477 0% 174 32.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Thioesterase/thiol ester dehydrase-isomerase FAM65B 9750 genome.wustl.edu 37 6 24806656 24806656 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014722.2 -1 validated p.R1051Q 1.000 350 0% 185 33% - - probably_damaging(0.974) tolerated(0.23) neutral(0.457) NULL FAM65B 9750 genome.wustl.edu 37 6 24848314 24848314 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014722.2 -1 validated p.R339I 1.000 320 0.3% 163 31.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LRRC16A 55604 genome.wustl.edu 37 6 25285074 25285074 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017640.5 +1 validated p.K25N 1.000 463 0% 191 40.8% - - probably_damaging(0.999) tolerated(0.11) deleterious(0.762) NULL LRRC16A 55604 genome.wustl.edu 37 6 25515974 25515974 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017640.5 +1 validated p.G568 1.000 134 0.7% 67 34.3% - - - - - superfamily_SSF52047 LRRC16A 55604 genome.wustl.edu 37 6 25529057 25529057 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017640.5 +1 validated p.R668I 0.976 132 0% 85 38.8% - - probably_damaging(0.984) tolerated(0.38) neutral(0.448) superfamily_SSF52047 SLC17A4 10050 genome.wustl.edu 37 6 25771173 25771173 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005495.2 +1 validated p.F213 0.010 710 0.1% 374 34% - - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC17A4 10050 genome.wustl.edu 37 6 25773779 25773779 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005495.2 +1 validated p.M288I 0.979 684 0.1% 340 34.7% - - possibly_damaging(0.827) tolerated(0.27) neutral(0.348) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC17A4 10050 genome.wustl.edu 37 6 25777057 25777057 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005495.2 +1 validated p.V380M 0.000 186 0% 139 36% - - possibly_damaging(0.95) tolerated(0.07) deleterious(0.713) HMMPfam_MFS_1,superfamily_MFS general substrate transporter TRIM38 10475 genome.wustl.edu 37 6 25967011 25967011 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006355.2 +1 reviewed p.T87 0.691 108 0% 62 38.7% - - - - - superfamily_SSF57850 HIST1H3E 8353 genome.wustl.edu 37 6 26225776 26225776 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003532.2 +1 reviewed p.R132C 1.000 236 0% 132 30.3% - - probably_damaging(1) - - HMMSmart_SM00428,HMMPfam_Histone,superfamily_Histone-fold BTN2A2 10385 genome.wustl.edu 37 6 26390357 26390357 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006995.3 +1 reviewed p.I283 0.012 343 0.3% 171 36.3% - - - - - NULL BTN2A2 10385 genome.wustl.edu 37 6 26392964 26392964 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006995.3 +1 reviewed p.G447 0.004 414 0% 229 39.7% - - - - - HMMPfam_SPRY,HMMSmart_SM00449 BTN3A1 11119 genome.wustl.edu 37 6 26405834 26405834 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007048.5 +1 validated p.R15C 0.000 582 0% 348 22.7% - - probably_damaging(0.992) tolerated(0.18) deleterious(0.504) NULL BTN1A1 696 genome.wustl.edu 37 6 26507021 26507021 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001732.2 +1 validated p.E274K 0.776 241 0% 132 28.8% - - benign(0.017) tolerated(0.65) neutral(0.004) NULL BTN1A1 696 genome.wustl.edu 37 6 26508937 26508937 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001732.2 +1 validated p.I372 0.000 279 0% 125 34.4% - - - - - HMMPfam_SPRY,HMMSmart_SM00449 POM121L2 94026 genome.wustl.edu 37 6 27279009 27279009 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000444565 -1 known p.S314Y 0.004 228 0% 132 31.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL POM121L2 94026 genome.wustl.edu 37 6 27279330 27279330 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000444565 -1 known p.S207Y 0.001 185 0% 110 36.4% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL POM121L2 94026 genome.wustl.edu 37 6 27279826 27279826 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000444565 -1 known p.Q42K 0.434 102 0% 72 19.4% - - possibly_damaging(0.895) tolerated(0.24) neutral(0.390) NULL ZNF391 346157 genome.wustl.edu 37 6 27369123 27369123 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001076781.1 +1 validated p.R325I 1.000 167 0% 117 41% - - possibly_damaging(0.915) deleterious(0.02) deleterious(0.750) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HIST1H4J 8363 genome.wustl.edu 37 6 27792125 27792125 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021968.3 +1 reviewed p.E75K 1.000 224 0% 156 25.6% - - possibly_damaging(0.71) deleterious(0) deleterious(0.701) HMMSmart_SM00417,HMMSmart_SM00803,HMMPfam_Histone,superfamily_Histone-fold OR2B2 81697 genome.wustl.edu 37 6 27879394 27879394 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033057.2 -1 validated p.R235Q 0.000 299 0% 167 38.3% - - benign(0.018) tolerated(0.35) neutral(0.021) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2B6 26212 genome.wustl.edu 37 6 27925550 27925550 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012367.1 +1 provisional p.L178I 0.971 261 0% 227 30% - - benign(0.047) tolerated(0.19) neutral(0.053) HMMPfam_7tm_1,superfamily_SSF81321 OR2B6 26212 genome.wustl.edu 37 6 27925878 27925878 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012367.1 +1 provisional p.P287L 1.000 230 0% 121 48.8% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_7tm_1,superfamily_SSF81321 ZNF192P1 651302 genome.wustl.edu 37 6 28134643 28134643 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145129.1 +1 provisional p.N103D 0.001 228 0% 146 34.2% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF193 7746 genome.wustl.edu 37 6 28200760 28200760 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006299.3 +1 provisional p.R330I 0.995 202 0% 124 37.9% - - probably_damaging(0.999) tolerated(0.14) deleterious(0.740) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZKSCAN4 387032 genome.wustl.edu 37 6 28212955 28212955 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019110.3 -1 provisional p.R526Q 0.001 363 0% 231 35.9% - - probably_damaging(0.999) tolerated(0.6) deleterious(0.495) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF187 7741 genome.wustl.edu 37 6 28244658 28244658 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152736.4 +1 validated p.D274N 0.035 340 0% 157 33.1% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PGBD1 84547 genome.wustl.edu 37 6 28268794 28268794 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032507.3 +1 reviewed p.K388R 0.847 115 0% 56 35.7% - - benign(0) tolerated(0.54) neutral(0.007) NULL ZSCAN23 222696 genome.wustl.edu 37 6 28402354 28402354 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012455.1 -1 validated p.R353I 1.000 290 0% 186 44.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZSCAN23 222696 genome.wustl.edu 37 6 28403902 28403902 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012455.1 -1 validated p.R48S 0.688 93 0% 76 30.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SCAN,HMMSmart_SCAN SCAND3 114821 genome.wustl.edu 37 6 28540488 28540488 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052923.1 -1 provisional p.R1060W 0.999 133 0% 53 32.1% - - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) NULL SCAND3 114821 genome.wustl.edu 37 6 28541284 28541284 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052923.1 -1 provisional p.F794L 1.000 334 0% 176 11.9% - - benign(0.227) tolerated(0.06) neutral(0.345) NULL SCAND3 114821 genome.wustl.edu 37 6 28543486 28543486 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052923.1 -1 provisional p.A332 1.000 636 0% 382 33.5% - - - - - NULL TRIM27 5987 genome.wustl.edu 37 6 28887993 28887993 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006510.4 -1 reviewed p.K181 1.000 263 0% 162 32.1% - - - - - NULL OR2J1 442185 genome.wustl.edu 37 6 29069518 29069518 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000377171 +1 known p.N267H 0.007 187 0% 131 43.5% - - benign(0.355) tolerated(0.52) neutral(0.121) HMMPfam_7tm_1,superfamily_SSF81321 OR2J1 442185 genome.wustl.edu 37 6 29069522 29069522 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000377171 +1 known p.S268Y 0.000 194 0% 133 30.8% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_7tm_1,superfamily_SSF81321 MAS1L 116511 genome.wustl.edu 37 6 29455057 29455057 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052967.1 -1 provisional p.K208T 0.000 70 0% 33 42.4% - - benign(0.019) tolerated(0.3) neutral(0.030) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like C6orf136 221545 genome.wustl.edu 37 6 30619148 30619148 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001109938.2 +1 validated p.E223D 1.000 64 0% 39 48.7% - - possibly_damaging(0.61) tolerated(0.31) neutral(0.238) HMMPfam_DUF2358 MDC1 9656 genome.wustl.edu 37 6 30671416 30671416 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014641.2 -1 reviewed p.E1848D 0.012 476 0% 247 34.4% - - possibly_damaging(0.649) tolerated(0.21) neutral(0.272) NULL MDC1 9656 genome.wustl.edu 37 6 30673856 30673856 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014641.2 -1 reviewed p.D1035A 0.321 120 0% 68 33.8% - - probably_damaging(0.98) tolerated(0.23) neutral(0.465) NULL GTF2H4 2968 genome.wustl.edu 37 6 30879209 30879209 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001517.4 +1 validated p.S225N 1.000 645 0% 311 37.3% - - benign(0.039) tolerated(0.2) neutral(0.051) HMMPfam_Tfb2 DPCR1 135656 genome.wustl.edu 37 6 30916476 30916476 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000462446 +1 known p.E79* 0.159 266 0% 112 34.8% - - - - - NULL DPCR1 135656 genome.wustl.edu 37 6 30917342 30917342 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000462446 +1 known p.R367 0.004 904 0% 354 35% - - - - - NULL DPCR1 135656 genome.wustl.edu 37 6 30919440 30919440 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000462446 +1 known p.E1067* 0.001 758 0% 364 36% - - - - - NULL DDX39B 7919 genome.wustl.edu 37 6 31498931 31498931 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004640.5 -1 reviewed p.L341I 1.000 146 0% 86 20.9% - - probably_damaging(0.981) deleterious(0.03) deleterious(0.790) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases BAG6 7917 genome.wustl.edu 37 6 31611898 31611898 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000453833 -1 known p.A142S 0.994 97 0% 84 41.7% - - - - - NULL MSH5 4439 genome.wustl.edu 37 6 31711996 31711996 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025259.5 +1 reviewed p.F206L 1.000 276 0% 158 38.6% - - possibly_damaging(0.905) tolerated(0.36) neutral(0.380) NULL VARS 7407 genome.wustl.edu 37 6 31752080 31752080 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006295.2 -1 reviewed p.D528N 0.060 165 0% 116 12.1% - - benign(0.003) tolerated(0.13) neutral(0.253) HMMPfam_tRNA-synt_1,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Nucleotidylyl transferase HSPA1L 3305 genome.wustl.edu 37 6 31778785 31778785 + Splice_Site SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000424494 -1 known e2+2 1.000 185 0% 148 34.5% - - - - - - TNXB 7148 genome.wustl.edu 37 6 32010042 32010042 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019105.6 -1 reviewed e40+1 1.000 196 0% 168 29.8% - - - - - - TNXB 7148 genome.wustl.edu 37 6 32021415 32021415 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019105.6 -1 reviewed p.L2845 0.528 30 0% 14 64.3% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ATF6B 1388 genome.wustl.edu 37 6 32093941 32093941 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004381.4 -1 reviewed p.F144C 1.000 162 0% 112 35.7% - - possibly_damaging(0.604) deleterious(0.02) deleterious(0.593) NULL HLA-DOB 3112 genome.wustl.edu 37 6 32782983 32782983 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002120.3 -1 reviewed p.D67N 0.983 184 0% 132 42.4% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_MHC_II_beta,superfamily_MHC antigen-recognition domain TAP1 6890 genome.wustl.edu 37 6 32818213 32818213 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000593.5 -1 reviewed p.R438* 0.949 200 0% 130 30.8% - - - - - HMMPfam_ABC_membrane,superfamily_ABC_TM_1 COL11A2 1302 genome.wustl.edu 37 6 33141152 33141152 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080680.2 -1 reviewed p.P903 0.468 71 0% 29 65.5% - - - - - HMMPfam_Collagen WDR46 9277 genome.wustl.edu 37 6 33256713 33256713 + Missense_Mutation SNP C C A rs143331167 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005452.5 -1 validated p.K49N 0.995 171 0% 82 46.3% - - benign(0.003) tolerated(0.3) neutral(0.029) NULL DAXX 1616 genome.wustl.edu 37 6 33287597 33287597 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001141970.1 -1 reviewed p.L512 0.001 362 0% 233 38.2% - - - - - HMMPfam_Daxx ITPR3 3710 genome.wustl.edu 37 6 33632853 33632853 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002224.2 +1 validated p.E424 0.960 53 0% 49 30.6% - - - - - HMMPfam_MIR,superfamily_MIR ITPR3 3710 genome.wustl.edu 37 6 33656126 33656126 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002224.2 +1 validated p.D2162 0.999 97 0% 90 40% - - - - - NULL UHRF1BP1 54887 genome.wustl.edu 37 6 34826807 34826807 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017754.3 +1 validated p.D892N 0.078 70 0% 56 41.1% - - benign(0.004) tolerated(0.44) neutral(0.013) NULL UHRF1BP1 54887 genome.wustl.edu 37 6 34826938 34826938 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017754.3 +1 validated p.E935D 0.000 70 0% 34 26.5% - - benign(0) tolerated(0.77) neutral(0.001) NULL TCP11 6954 genome.wustl.edu 37 6 35089949 35089949 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001093728.1 -1 validated p.R188* 0.997 248 0.4% 128 25% - - - - - HMMPfam_Tcp11 SCUBE3 222663 genome.wustl.edu 37 6 35210542 35210542 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152753.2 +1 provisional p.A560T 0.995 107 0% 77 36.4% - - benign(0.018) tolerated(0.43) neutral(0.014) NULL SCUBE3 222663 genome.wustl.edu 37 6 35213126 35213126 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152753.2 +1 provisional p.K841N 1.000 237 0% 134 35.8% - - possibly_damaging(0.805) tolerated(0.08) deleterious(0.603) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain ZNF76 7629 genome.wustl.edu 37 6 35262285 35262285 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003427.3 +1 provisional p.S516Y 1.000 297 0% 263 39.9% - - benign(0.002) deleterious(0.04) neutral(0.349) NULL FANCE 2178 genome.wustl.edu 37 6 35423874 35423874 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021922.2 +1 reviewed p.R200H 0.995 108 0% 36 44.4% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL FANCE 2178 genome.wustl.edu 37 6 35424044 35424044 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021922.2 +1 reviewed p.M257V 0.000 186 0% 90 13.3% - - benign(0) tolerated(0.15) neutral(0.241) NULL ARMC12 221481 genome.wustl.edu 37 6 35705102 35705102 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145028.3 +1 predicted p.E73K 0.005 133 0% 56 33.9% - - benign(0) deleterious(0) neutral(0.445) NULL ARMC12 221481 genome.wustl.edu 37 6 35715059 35715059 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145028.3 +1 predicted p.E183K 0.996 377 0% 180 29.4% - - probably_damaging(0.996) tolerated(0.12) deleterious(0.722) HMMPfam_DUF634,superfamily_ARM-type_fold SLC26A8 116369 genome.wustl.edu 37 6 35911843 35911843 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052961.2 -1 reviewed p.S916Y 0.000 482 0.2% 350 35.4% - - benign(0.067) deleterious(0) neutral(0.449) NULL BRPF3 27154 genome.wustl.edu 37 6 36168265 36168265 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015695.2 +1 validated p.D56N 1.000 165 0% 85 20% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_EPL1 BRPF3 27154 genome.wustl.edu 37 6 36168372 36168372 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000441123 +1 known p.E64* 0.999 134 0% 76 17.1% - - benign(0.104) tolerated(0.41) neutral(0.023) HMMPfam_EPL1 BRPF3 27154 genome.wustl.edu 37 6 36169341 36169341 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000441123 +1 known p.G387* 0.990 413 0% 166 13.3% - - benign(0.328) tolerated(0.13) neutral(0.355) NULL C6orf222 389384 genome.wustl.edu 37 6 36291092 36291092 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010903.4 -1 validated p.R483 0.010 148 0% 103 31.1% - - - - - NULL CPNE5 57699 genome.wustl.edu 37 6 36713256 36713256 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020939.1 -1 reviewed p.D413N 1.000 38 0% 22 31.8% - - benign(0.003) tolerated(0.17) neutral(0.059) HMMSmart_VWA,HMMPfam_Copine,superfamily_SSF53300 FGD2 221472 genome.wustl.edu 37 6 36993601 36993601 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173558.3 +1 validated p.E498K 0.002 116 0% 75 33.3% - - benign(0.008) tolerated(0.42) neutral(0.014) HMMPfam_FYVE,HMMSmart_SM00064,superfamily_FYVE/PHD zinc finger PIM1 5292 genome.wustl.edu 37 6 37140852 37140852 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002648.3 +1 validated p.I230V 1.000 336 0% 216 38.9% - - benign(0) tolerated(1) - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RNF8 9025 genome.wustl.edu 37 6 37336963 37336963 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003958.3 +1 reviewed p.K315T 1.000 146 0% 79 40.5% - - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL MDGA1 266727 genome.wustl.edu 37 6 37619814 37619814 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153487.3 -1 validated p.V429I 0.811 45 0% 29 31% - - benign(0.002) tolerated(0.64) neutral(0.003) HMMSmart_SM00409,superfamily_Immunoglobulin DNAH8 1769 genome.wustl.edu 37 6 38705029 38705029 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001371.2 +1 validated p.D100Y 1.000 155 0% 65 33.8% - - benign(0.223) deleterious(0.01) neutral(0.428) NULL DNAH8 1769 genome.wustl.edu 37 6 38743579 38743579 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001371.2 +1 validated p.S388Y 1.000 141 0% 62 32.3% - - benign(0.054) tolerated(1) neutral(0.004) HMMPfam_DHC_N1 DNAH8 1769 genome.wustl.edu 37 6 38750816 38750816 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001371.2 +1 validated p.A549T 1.000 219 0% 113 23% - - benign(0.003) tolerated(0.33) neutral(0.024) HMMPfam_DHC_N1 DNAH8 1769 genome.wustl.edu 37 6 38795982 38795982 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001371.2 +1 validated p.R1152I 1.000 383 0% 194 32.5% - - possibly_damaging(0.609) deleterious(0.01) deleterious(0.617) NULL DNAH8 1769 genome.wustl.edu 37 6 38821010 38821010 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001371.2 +1 validated p.D1657N 0.934 235 0% 111 34.2% - - benign(0.001) tolerated(0.61) neutral(0.004) HMMPfam_DHC_N2 DNAH8 1769 genome.wustl.edu 37 6 38828262 38828262 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001371.2 +1 validated p.D1779 0.975 249 0% 120 30% - - - - - NULL DNAH8 1769 genome.wustl.edu 37 6 38831750 38831750 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001371.2 +1 validated p.A1921S 1.000 294 0% 155 43.2% - - possibly_damaging(0.728) tolerated(0.05) deleterious(0.611) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH8 1769 genome.wustl.edu 37 6 38863867 38863867 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001371.2 +1 validated p.E2719* 0.997 336 0% 191 39.8% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH8 1769 genome.wustl.edu 37 6 38879252 38879252 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001371.2 +1 validated p.R3033Q 1.000 129 0% 56 21.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH8 1769 genome.wustl.edu 37 6 38897426 38897426 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001371.2 +1 validated p.S3536Y 1.000 91 0% 51 39.2% - - possibly_damaging(0.903) deleterious(0.03) deleterious(0.722) NULL DNAH8 1769 genome.wustl.edu 37 6 38913287 38913287 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001371.2 +1 validated p.R3801C 0.533 197 0% 109 41.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Dynein_heavy DNAH8 1769 genome.wustl.edu 37 6 38939413 38939413 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001371.2 +1 validated p.R3949Q 1.000 216 1.4% 123 20.3% - - probably_damaging(0.997) tolerated(0.08) deleterious(0.766) HMMPfam_Dynein_heavy DNAH8 1769 genome.wustl.edu 37 6 38957866 38957866 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001371.2 +1 validated p.D4161N 1.000 401 0% 191 32.5% - - benign(0.01) tolerated(0.2) neutral(0.050) HMMPfam_Dynein_heavy DNAH8 1769 genome.wustl.edu 37 6 38980042 38980042 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001371.2 +1 validated p.L4258I 1.000 289 0% 159 39% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynein_heavy LOC100131031 100131031 genome.wustl.edu 37 6 39080157 39080157 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001725253.2 +1 model p.F215L 0.513 64 0% 28 35.7% - - - - - NULL KCNK16 83795 genome.wustl.edu 37 6 39282972 39282972 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135105.1 -1 reviewed p.F299L 0.000 241 0% 140 42.1% - - unknown(0) - - NULL DAAM2 23500 genome.wustl.edu 37 6 39839297 39839297 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015345.2 +1 validated p.F331 0.998 401 0% 225 30.2% - - - - - HMMPfam_Drf_FH3 MOCS1 4337 genome.wustl.edu 37 6 39874678 39874678 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000340692 -1 known p.D456N 0.006 76 0% 54 42.6% - - benign(0.001) tolerated(0.62) neutral(0.004) NULL MOCS1 4337 genome.wustl.edu 37 6 39874879 39874879 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000340692 -1 known p.F389L 0.002 61 0% 30 26.7% - - benign(0) tolerated(0.67) neutral(0.003) NULL MOCS1 4337 genome.wustl.edu 37 6 39895121 39895121 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001075098.3 -1 reviewed p.G66D 1.000 84 0% 48 27.1% - - probably_damaging(1) tolerated(0.18) deleterious(0.556) superfamily_SSF102114 APOBEC2 10930 genome.wustl.edu 37 6 41029364 41029364 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006789.3 +1 validated p.K143N 1.000 166 0% 81 28.4% - - probably_damaging(0.99) tolerated(0.19) deleterious(0.491) HMMPfam_APOBEC_N,superfamily_Cytidine deaminase-like NFYA 4800 genome.wustl.edu 37 6 41060780 41060780 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002505.4 +1 reviewed p.R282* 0.992 303 0% 119 21.8% - - - - - HMMPfam_CBFB_NFYA,HMMSmart_SM00521,PatternScan_NFYA_HAP2_1 PRICKLE4 29964 genome.wustl.edu 37 6 41753105 41753105 + Missense_Mutation SNP G G A rs34342271 byCluster;byFrequency TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013397.5 +1 validated p.G137R 0.992 83 0% 46 41.3% - - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1 PRICKLE4 29964 genome.wustl.edu 37 6 41753916 41753916 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013397.5 +1 validated p.E211 1.000 26 0% 24 29.2% - - - - - HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) PRICKLE4 29964 genome.wustl.edu 37 6 41754642 41754642 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013397.5 +1 validated p.E310D 0.030 93 0% 58 37.9% - - benign(0) tolerated(0.38) neutral(0.018) NULL TOMM6 100188893 genome.wustl.edu 37 6 41756970 41756970 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134493.1 +1 validated p.R43S 1.000 324 0% 163 32.5% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL MED20 9477 genome.wustl.edu 37 6 41877243 41877243 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004275.3 -1 validated p.M63V 1.000 111 0% 105 29.5% - - benign(0.005) tolerated(0.92) - HMMPfam_TATA_RF C6orf132 647024 genome.wustl.edu 37 6 42072700 42072700 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000341865 -1 known p.E984K 0.980 95 0% 64 46.9% - - possibly_damaging(0.915) deleterious(0.04) deleterious(0.716) NULL KIAA0240 23506 genome.wustl.edu 37 6 42832694 42832694 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015349.1 +1 validated p.T917M 0.000 101 0% 73 50.7% - - benign(0.086) deleterious(0.02) neutral(0.390) NULL CNPY3 10695 genome.wustl.edu 37 6 42903328 42903328 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006586.3 +1 validated p.E98K 1.000 136 0% 102 53.9% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL CUL7 9820 genome.wustl.edu 37 6 43017716 43017716 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014780.4 -1 reviewed p.E518D 1.000 86 0% 69 40.6% - - benign(0.004) tolerated(0.27) neutral(0.034) NULL CUL9 23113 genome.wustl.edu 37 6 43170500 43170500 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015089.2 +1 validated p.A1232T 1.000 114 0% 62 30.6% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_APC10,superfamily_Galactose-binding domain-like CUL9 23113 genome.wustl.edu 37 6 43181588 43181588 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015089.2 +1 validated p.L1876I 1.000 164 0% 83 38.6% - - possibly_damaging(0.556) tolerated(1) neutral(0.190) "superfamily_""Winged helix"" DNA-binding domain" CUL9 23113 genome.wustl.edu 37 6 43189422 43189422 + Splice_Site SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015089.2 +1 validated e34-1 1.000 65 0% 46 21.7% - - - - - - TTBK1 84630 genome.wustl.edu 37 6 43251032 43251032 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032538.1 +1 validated p.E852K 1.000 18 0% 11 36.4% - - benign(0.015) deleterious(0) neutral(0.445) NULL CRIP3 401262 genome.wustl.edu 37 6 43273851 43273851 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000416431 -1 known p.P93S 0.984 71 0% 66 31.8% - - - - - HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) ZNF318 24149 genome.wustl.edu 37 6 43305470 43305470 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014345.2 -1 validated p.R2089Q 0.065 180 0% 118 34.7% - - benign(0.001) tolerated(0.81) neutral(0.001) NULL ZNF318 24149 genome.wustl.edu 37 6 43323467 43323467 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014345.2 -1 validated p.E535D 1.000 157 0% 94 10.6% - - probably_damaging(0.974) deleterious(0.04) deleterious(0.765) NULL CAPN11 11131 genome.wustl.edu 37 6 44140676 44140676 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007058.3 +1 reviewed e6-1 1.000 71 0% 39 25.6% - - - - - - SLC29A1 2030 genome.wustl.edu 37 6 44199193 44199193 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001078174.1 +1 reviewed p.K287E 0.449 209 0% 120 33.3% - - benign(0.362) deleterious(0.02) deleterious(0.498) HMMPfam_Nucleoside_tran HSP90AB1 3326 genome.wustl.edu 37 6 44217300 44217300 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007355.2 +1 provisional p.A112S 1.000 264 0% 141 31.2% - - benign(0.005) tolerated(0.09) neutral(0.296) HMMPfam_HATPase_c,HMMSmart_SM00387,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase HSP90AB1 3326 genome.wustl.edu 37 6 44220854 44220854 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007355.2 +1 provisional p.M602V 1.000 71 0% 67 41.8% - - possibly_damaging(0.871) deleterious(0) deleterious(0.783) HMMPfam_HSP90,superfamily_HSP90 C-terminal domain (C-terminal part of Pfam 00183) SLC35B2 347734 genome.wustl.edu 37 6 44222477 44222477 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178148.2 -1 validated p.A422D 0.442 223 0% 127 34.6% - - possibly_damaging(0.462) tolerated(0.18) neutral(0.207) NULL TCTE1 202500 genome.wustl.edu 37 6 44255296 44255296 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182539.3 -1 validated p.R89S 0.025 113 0% 82 39% - - benign(0.069) tolerated(0.72) neutral(0.006) NULL AARS2 57505 genome.wustl.edu 37 6 44269164 44269164 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020745.2 -1 validated p.S879L 0.000 86 1.2% 51 31.4% - - benign(0.032) tolerated(0.21) neutral(0.045) NULL ENPP4 22875 genome.wustl.edu 37 6 46107510 46107510 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014936.4 +1 validated p.N64H 0.999 139 0% 69 56.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core ENPP5 59084 genome.wustl.edu 37 6 46133267 46133267 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021572.4 -1 validated p.H288R 0.001 388 0% 232 37.5% - - benign(0) tolerated(0.49) neutral(0.011) HMMPfam_Phosphodiest,superfamily_Alkaline phosphatase-like CYP39A1 51302 genome.wustl.edu 37 6 46555811 46555811 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016593.3 -1 reviewed p.R374I 1.000 166 0% 55 49.1% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_p450,superfamily_Cytochrome P450 TDRD6 221400 genome.wustl.edu 37 6 46656967 46656967 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010870.2 +1 validated p.R368* 0.992 236 0.4% 135 28.9% - - - - - HMMPfam_TUDOR TDRD6 221400 genome.wustl.edu 37 6 46657349 46657349 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010870.2 +1 validated p.F495C 1.000 190 0% 95 38.9% - - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_TUDOR TDRD6 221400 genome.wustl.edu 37 6 46658530 46658530 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010870.2 +1 validated p.Q889K 0.999 104 0% 45 31.1% - - benign(0.313) tolerated(0.08) neutral(0.397) NULL TDRD6 221400 genome.wustl.edu 37 6 46661338 46661338 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010870.2 +1 validated p.E1825* 0.016 65 1.5% 36 41.7% - - - - - NULL PLA2G7 7941 genome.wustl.edu 37 6 46690525 46690525 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005084.3 -1 reviewed p.S35* 0.782 227 0% 106 36.8% - - - - - NULL MEP1A 4224 genome.wustl.edu 37 6 46787435 46787435 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005588.2 +1 validated p.L184I 0.002 554 0% 299 34.4% - - benign(0.004) tolerated(0.62) neutral(0.004) HMMPfam_Astacin,HMMSmart_ZnMc,superfamily_SSF55486 MEP1A 4224 genome.wustl.edu 37 6 46793216 46793216 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005588.2 +1 validated p.R255Q 1.000 271 0% 136 30.9% - - probably_damaging(1) tolerated(0.21) deleterious(0.544) HMMPfam_Astacin,superfamily_SSF55486 GPR116 221395 genome.wustl.edu 37 6 46826491 46826491 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098518.1 -1 validated p.R1050H 1.000 207 0% 98 40.8% - - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL GPR116 221395 genome.wustl.edu 37 6 46849336 46849336 + Splice_Site SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098518.1 -1 validated e7-2 0.992 545 0% 349 35% - - - - - - GPR116 221395 genome.wustl.edu 37 6 46874497 46874497 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098518.1 -1 validated p.M1I 1.000 516 0% 212 38.2% - - possibly_damaging(0.459) deleterious(0) deleterious(0.595) NULL GPR110 266977 genome.wustl.edu 37 6 46979880 46979880 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153840.2 -1 validated p.V327M 0.923 394 0% 219 37.4% - - benign(0.101) tolerated(0.08) neutral(0.307) NULL CD2AP 23607 genome.wustl.edu 37 6 47547151 47547151 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012120.2 +1 reviewed p.E312K 1.000 526 0% 225 34.7% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 GPR115 221393 genome.wustl.edu 37 6 47680160 47680160 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153838.3 +1 validated p.R123Q 0.016 201 0.5% 129 38.8% - - benign(0.002) tolerated(0.69) neutral(0.002) NULL CRISP1 167 genome.wustl.edu 37 6 49819810 49819810 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001131.2 -1 reviewed p.L33 0.000 482 0% 231 32.9% - - - - - superfamily_PR-1-like DEFB114 245928 genome.wustl.edu 37 6 49928035 49928035 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001037499.1 -1 provisional p.E60 0.000 320 0% 127 33.1% - - - - - NULL TFAP2B 7021 genome.wustl.edu 37 6 50810937 50810937 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003221.3 +1 reviewed p.F405 1.000 83 0% 28 28.6% - - - - - HMMPfam_TF_AP-2 PKHD1 5314 genome.wustl.edu 37 6 51523872 51523872 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138694.3 -1 reviewed p.N3684 0.004 333 0% 176 38.6% - - - - - NULL PKHD1 5314 genome.wustl.edu 37 6 51612704 51612704 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138694.3 -1 reviewed p.R3237I 0.953 183 0% 125 34.4% - - possibly_damaging(0.444) tolerated(0.08) neutral(0.445) NULL PKHD1 5314 genome.wustl.edu 37 6 51656137 51656137 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138694.3 -1 reviewed p.F2779L 0.008 275 0% 158 34.2% - - benign(0.001) tolerated(0.55) neutral(0.007) HMMPfam_G8 PKHD1 5314 genome.wustl.edu 37 6 51748003 51748003 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138694.3 -1 reviewed p.R2413H 0.988 178 0% 72 41.7% - - benign(0) tolerated(0.58) neutral(0.005) HMMSmart_SM00710,superfamily_Pectin lyase-like PKHD1 5314 genome.wustl.edu 37 6 51771023 51771023 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138694.3 -1 reviewed p.A2266 0.391 120 0% 57 33.3% - - - - - HMMSmart_SM00710,superfamily_Pectin lyase-like PKHD1 5314 genome.wustl.edu 37 6 51875241 51875241 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138694.3 -1 reviewed p.D1873Y 1.000 374 0% 209 34.4% - - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL PKHD1 5314 genome.wustl.edu 37 6 51938332 51938332 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138694.3 -1 reviewed p.L152 0.928 428 0% 212 34.9% - - - - - superfamily_E set domains EFHC1 114327 genome.wustl.edu 37 6 52319011 52319011 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018100.3 +1 reviewed p.R281L 1.000 317 0.3% 202 31.7% - - possibly_damaging(0.683) tolerated(0.11) deleterious(0.515) HMMSmart_SM00676,HMMPfam_DUF1126 EFHC1 114327 genome.wustl.edu 37 6 52357122 52357122 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018100.3 +1 reviewed p.R636C 0.811 281 0% 148 37.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_EF-hand GSTA2 2939 genome.wustl.edu 37 6 52617688 52617688 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000846.4 -1 reviewed p.E126D 0.318 736 0% 378 37% - - benign(0) tolerated(1) - HMMPfam_GST_C,superfamily_GST_C_like ICK 22858 genome.wustl.edu 37 6 52905983 52905983 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014920.3 -1 reviewed p.V18I 1.000 156 0% 91 29.7% - - possibly_damaging(0.941) deleterious(0) deleterious(0.831) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase GCM1 8521 genome.wustl.edu 37 6 52993390 52993390 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003643.3 -1 reviewed p.A309S 0.000 281 0% 129 31.8% - - benign(0) tolerated(0.1) neutral(0.286) NULL ELOVL5 60481 genome.wustl.edu 37 6 53139965 53139965 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021814.3 -1 provisional p.T140M 1.000 418 0% 208 33.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ELO KLHL31 401265 genome.wustl.edu 37 6 53516539 53516539 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001003760.4 -1 validated p.S588R 0.996 111 0% 93 23.7% - - benign(0.016) tolerated(0.09) neutral(0.297) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central KLHL31 401265 genome.wustl.edu 37 6 53519485 53519485 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001003760.4 -1 validated p.R196W 1.000 301 0% 165 19.4% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_BACK KLHL31 401265 genome.wustl.edu 37 6 53519561 53519561 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001003760.4 -1 validated p.E170D 1.000 214 0% 115 28.7% - - possibly_damaging(0.923) tolerated(1) neutral(0.372) NULL LRRC1 55227 genome.wustl.edu 37 6 53761629 53761629 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018214.4 +1 validated p.S169F 1.000 212 0% 60 28.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like LRRC1 55227 genome.wustl.edu 37 6 53778654 53778654 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018214.4 +1 validated p.I331 0.948 163 0% 90 31.1% - - - - - HMMSmart_SM00369,superfamily_L domain-like MLIP 90523 genome.wustl.edu 37 6 53883848 53883848 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138569.2 +1 validated p.K8Q 0.998 279 0% 96 36.5% - - probably_damaging(0.997) tolerated(0.15) deleterious(0.707) NULL MLIP 90523 genome.wustl.edu 37 6 53989402 53989402 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138569.2 +1 validated p.Q117H 0.993 204 0% 88 36.4% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL MLIP 90523 genome.wustl.edu 37 6 54067005 54067005 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138569.2 +1 validated p.D363Y 0.995 167 0% 75 41.3% - - unknown(0) deleterious(0) - NULL GFRAL 389400 genome.wustl.edu 37 6 55266641 55266641 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207410.2 +1 validated p.G392V 0.832 341 0% 163 35% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL HMGCLL1 54511 genome.wustl.edu 37 6 55364089 55364089 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019036.2 -1 validated p.S214Y 1.000 319 0% 129 31% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HMGL-like,superfamily_Aldolase BMP5 653 genome.wustl.edu 37 6 55638897 55638897 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021073.2 -1 reviewed p.R326H 1.000 574 0.2% 279 40.9% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL COL21A1 81578 genome.wustl.edu 37 6 55924978 55924978 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030820.3 -1 reviewed p.N816H 0.998 147 0% 76 32.9% - - benign(0.002) tolerated(0.18) neutral(0.056) NULL DST 667 genome.wustl.edu 37 6 56325025 56325025 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015548.4 -1 reviewed p.R5053* 0.997 183 0% 109 36.7% - - - - - NULL DST 667 genome.wustl.edu 37 6 56368827 56368827 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015548.4 -1 reviewed p.E3889K 1.000 287 0% 144 36.1% - - possibly_damaging(0.773) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56392430 56392430 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015548.4 -1 reviewed p.A3305V 0.997 482 0% 305 37.7% - - possibly_damaging(0.86) - - superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56422302 56422302 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015548.4 -1 reviewed p.E2196* 1.000 433 0% 251 38.2% - - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56434761 56434761 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015548.4 -1 reviewed p.L1968I 0.998 343 0% 153 35.9% - - probably_damaging(0.995) - - superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56438544 56438544 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015548.4 -1 reviewed p.S1767Y 0.997 305 0% 187 39% - - probably_damaging(0.991) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56458602 56458602 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015548.4 -1 reviewed p.T1572 0.130 235 0% 139 38.1% - - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56496779 56496779 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015548.4 -1 reviewed p.R752W 0.968 354 0% 207 26.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56564524 56564524 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000370769 -1 known p.R114I 1.000 258 0% 152 40.1% - - benign(0.261) deleterious(0) deleterious(0.472) PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain BEND6 221336 genome.wustl.edu 37 6 56846621 56846621 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152731.2 +1 validated p.V5M 0.991 308 0% 149 38.3% - - benign(0.006) tolerated(0.06) neutral(0.323) NULL ZNF451 26036 genome.wustl.edu 37 6 57012048 57012048 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031623.2 +1 validated p.R389* 0.475 167 0% 99 31.3% - - - - - NULL PRIM2 5558 genome.wustl.edu 37 6 57246860 57246860 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000425433 +1 known p.R196Q 1.000 735 0% 338 34.3% - - - - - HMMPfam_DNA_primase_lrg PRIM2 5558 genome.wustl.edu 37 6 57498969 57498969 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000425433 +1 known p.I411M 1.000 733 0.1% 352 17.3% - - - - - HMMPfam_DNA_primase_lrg KHDRBS2 202559 genome.wustl.edu 37 6 62611258 62611258 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152688.2 -1 validated p.R168C 1.000 243 0% 122 31.1% - - probably_damaging(1) tolerated(0.24) deleterious(0.537) superfamily_SSF54791 FKBP1C 642489 genome.wustl.edu 37 6 63921757 63921757 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000370659 +1 known p.V99A 0.999 180 0% 119 29.4% - - benign(0.066) deleterious(0.03) neutral(0.369) HMMPfam_FKBP_C,superfamily_SSF54534 PTP4A1 7803 genome.wustl.edu 37 6 64288352 64288352 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003463.3 +1 reviewed p.K39R 1.000 266 0% 116 28.4% - - benign(0.005) tolerated(0.27) neutral(0.034) HMMPfam_DSPc,superfamily_(Phosphotyrosine protein) phosphatases II PHF3 23469 genome.wustl.edu 37 6 64421223 64421223 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015153.2 +1 provisional p.K1321T 1.000 298 0% 153 41.2% - - benign(0.014) tolerated(0.47) neutral(0.011) NULL PHF3 23469 genome.wustl.edu 37 6 64421669 64421669 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015153.2 +1 provisional p.E1395 1.000 161 0% 79 30.4% - - - - - NULL PHF3 23469 genome.wustl.edu 37 6 64422457 64422457 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015153.2 +1 provisional p.R1658Q 0.979 101 0% 46 37% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PHF3 23469 genome.wustl.edu 37 6 64423533 64423533 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015153.2 +1 provisional p.E2017* 0.997 163 0% 65 41.5% - - - - - NULL EYS 346007 genome.wustl.edu 37 6 64499114 64499114 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142800.1 -1 reviewed p.L2472S 0.793 137 0% 69 11.6% - - probably_damaging(0.979) - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 EYS 346007 genome.wustl.edu 37 6 65149092 65149092 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142800.1 -1 reviewed p.F1933Y 0.937 119 0% 37 16.2% - - benign(0.429) - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 EYS 346007 genome.wustl.edu 37 6 66053969 66053969 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142800.1 -1 reviewed p.N521D 0.000 209 0% 87 40.2% - - benign(0) tolerated(0.18) neutral(0.056) NULL EYS 346007 genome.wustl.edu 37 6 66053984 66053984 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142800.1 -1 reviewed p.D516N 0.000 236 0% 95 34.7% - - benign(0) tolerated(0.51) neutral(0.009) NULL BAI3 577 genome.wustl.edu 37 6 69348580 69348580 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001704.2 +1 reviewed p.R5C 1.000 263 0.4% 130 33.1% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL BAI3 577 genome.wustl.edu 37 6 69348883 69348883 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001704.2 +1 reviewed p.H106N 1.000 110 0% 60 35% - - benign(0) tolerated(0.24) neutral(0.037) NULL BAI3 577 genome.wustl.edu 37 6 69684714 69684714 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001704.2 +1 reviewed p.A529T 1.000 297 0% 127 11% - - probably_damaging(0.988) deleterious(0.02) deleterious(0.821) HMMPfam_HRM,HMMSmart_SM00008 BAI3 577 genome.wustl.edu 37 6 69703758 69703758 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001704.2 +1 reviewed p.F611L 1.000 319 0% 152 37.5% - - possibly_damaging(0.767) tolerated(1) neutral(0.284) NULL BAI3 577 genome.wustl.edu 37 6 70049301 70049301 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001704.2 +1 reviewed p.D1122Y 1.000 754 0% 389 38.6% - - probably_damaging(0.956) deleterious(0) deleterious(0.844) HMMPfam_7tm_2 BAI3 577 genome.wustl.edu 37 6 70098668 70098668 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001704.2 +1 reviewed p.I1485T 1.000 448 0% 184 15.8% - - possibly_damaging(0.527) deleterious(0.04) deleterious(0.527) NULL COL19A1 1310 genome.wustl.edu 37 6 70637859 70637859 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001858.4 +1 reviewed p.R109* 0.539 355 0% 197 34% - - - - - HMMSmart_TSPN,superfamily_ConA_like_lec_gl COL19A1 1310 genome.wustl.edu 37 6 70639316 70639316 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001858.4 +1 reviewed e5-1 1.000 182 0% 116 34.5% - - - - - - COL19A1 1310 genome.wustl.edu 37 6 70859609 70859609 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001858.4 +1 reviewed p.P636L 1.000 366 0% 172 34.9% - - probably_damaging(0.996) tolerated(0.65) neutral(0.465) HMMPfam_Collagen COL9A1 1297 genome.wustl.edu 37 6 70926706 70926706 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001851.4 -1 reviewed p.G887V 1.000 49 0% 47 38.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Collagen FAM135A 57579 genome.wustl.edu 37 6 71186893 71186893 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105531.2 +1 validated p.S134R 1.000 375 0% 211 38.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAM135A 57579 genome.wustl.edu 37 6 71269569 71269569 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105531.2 +1 validated p.S1302L 1.000 248 0% 132 25.8% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL B3GAT2 135152 genome.wustl.edu 37 6 71571447 71571447 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080742.2 -1 reviewed p.L297 0.711 473 0% 324 16.4% - - - - - HMMPfam_Glyco_transf_43,superfamily_Nucleotide-diphospho-sugar transferases OGFRL1 79627 genome.wustl.edu 37 6 72011502 72011502 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024576.3 +1 validated p.A369V 0.001 107 0% 37 59.5% - - possibly_damaging(0.907) tolerated(0.24) neutral(0.398) NULL RIMS1 22999 genome.wustl.edu 37 6 72889534 72889534 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014989.4 +1 reviewed p.K243R 1.000 69 0% 46 39.1% - - possibly_damaging(0.615) tolerated(0.56) neutral(0.220) NULL RIMS1 22999 genome.wustl.edu 37 6 72892800 72892800 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014989.4 +1 reviewed p.E542 1.000 23 0% 16 43.8% - - - - - NULL RIMS1 22999 genome.wustl.edu 37 6 72974727 72974727 + Missense_Mutation SNP C C G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014989.4 +1 reviewed p.Q1056E 1.000 255 0% 90 24.4% - - benign(0) tolerated(0.7) neutral(0.002) NULL KCNQ5 56479 genome.wustl.edu 37 6 73751664 73751664 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019842.3 +1 reviewed p.F165 0.998 819 0.2% 367 37.1% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels KHDC1L 100129128 genome.wustl.edu 37 6 73933486 73933486 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001126063.2 -1 validated p.P124 0.000 275 0% 145 21.4% - - - - - NULL DPPA5 340168 genome.wustl.edu 37 6 74063669 74063669 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001025290.1 -1 provisional p.E67K 0.421 50 0% 38 23.7% - - benign(0.023) deleterious(0) neutral(0.446) superfamily_SSF54791 DPPA5 340168 genome.wustl.edu 37 6 74063916 74063916 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001025290.1 -1 provisional p.P11 0.000 111 0% 75 33.3% - - - - - superfamily_SSF54791 SLC17A5 26503 genome.wustl.edu 37 6 74354213 74354213 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012434.4 -1 reviewed p.S70A 1.000 183 0% 92 42.4% - - benign(0.03) tolerated(0.18) neutral(0.058) HMMPfam_MFS_1,superfamily_MFS general substrate transporter CD109 135228 genome.wustl.edu 37 6 74475777 74475777 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133493.3 +1 reviewed p.K411T 0.010 285 0% 113 27.4% - - benign(0.014) tolerated(0.31) neutral(0.028) NULL CD109 135228 genome.wustl.edu 37 6 74475877 74475877 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133493.3 +1 reviewed p.K444N 1.000 95 0% 46 45.7% - - benign(0.039) tolerated(0.34) neutral(0.025) NULL COL12A1 1303 genome.wustl.edu 37 6 75825601 75825601 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004370.5 -1 reviewed p.K2532N 1.000 180 0% 70 12.9% - - probably_damaging(1) - - HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases COL12A1 1303 genome.wustl.edu 37 6 75831091 75831091 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004370.5 -1 reviewed p.N2338T 1.000 149 0% 78 39.7% - - possibly_damaging(0.945) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL12A1 1303 genome.wustl.edu 37 6 75838063 75838063 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004370.5 -1 reviewed p.A2097T 0.850 453 0% 189 31.2% - - possibly_damaging(0.551) - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III COL12A1 1303 genome.wustl.edu 37 6 75866077 75866077 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004370.5 -1 reviewed p.S1049L 0.999 557 0% 380 38.4% - - possibly_damaging(0.837) - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SENP6 26054 genome.wustl.edu 37 6 76425197 76425197 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015571.2 +1 validated p.L1076M 1.000 249 0% 117 31.6% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Cysteine proteinases MYO6 4646 genome.wustl.edu 37 6 76618241 76618241 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004999.3 +1 reviewed p.E1103D 1.000 152 0% 79 40.5% - - unknown(0) deleterious(0.04) - NULL PHIP 55023 genome.wustl.edu 37 6 79679564 79679564 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017934.5 -1 validated p.R1065* 1.000 458 0% 194 13.4% - - - - - NULL PHIP 55023 genome.wustl.edu 37 6 79735718 79735718 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017934.5 -1 validated p.R255Q 1.000 262 0% 133 31.6% - - probably_damaging(0.988) tolerated(1) neutral(0.438) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase HMGN3 9324 genome.wustl.edu 37 6 79944269 79944269 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004242.2 -1 reviewed p.K3 1.000 265 0% 136 34.6% - - - - - HMMPfam_HMG14_17,HMMSmart_SM00527 LCA5 167691 genome.wustl.edu 37 6 80197370 80197370 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001122769.2 -1 reviewed p.R482Q 0.000 347 0% 198 37.9% - - benign(0) tolerated(0.85) neutral(0.001) NULL LCA5 167691 genome.wustl.edu 37 6 80223189 80223189 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001122769.2 -1 reviewed p.E154K 1.000 511 0% 293 35.2% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL TTK 7272 genome.wustl.edu 37 6 80744798 80744798 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003318.4 +1 reviewed p.E571K 1.000 235 0% 85 28.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase BCKDHB 594 genome.wustl.edu 37 6 80877395 80877395 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000056.3 +1 reviewed p.G115V 1.000 192 0% 93 39.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Transket_pyr,superfamily_Thiamin diphosphate-binding fold (THDP-binding) IBTK 25998 genome.wustl.edu 37 6 82924092 82924092 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015525.2 -1 reviewed p.Y686D 1.000 371 0% 221 33.9% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMSmart_SM00225 DOPEY1 23033 genome.wustl.edu 37 6 83847825 83847825 + Missense_Mutation SNP G G A rs142639349 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015018.2 +1 validated p.R1355Q 1.000 131 0% 70 41.4% - - possibly_damaging(0.902) tolerated(0.2) neutral(0.406) NULL SNAP91 9892 genome.wustl.edu 37 6 84371276 84371276 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014841.2 -1 validated p.E133* 1.000 207 0% 61 42.6% - - - - - superfamily_ENTH/VHS domain,HMMPfam_ANTH,HMMSmart_SM00273 SNAP91 9892 genome.wustl.edu 37 6 84417533 84417533 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014841.2 -1 validated p.K38N 1.000 254 0% 126 34.9% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_ENTH/VHS domain,HMMPfam_ANTH,HMMSmart_SM00273 CYB5R4 51167 genome.wustl.edu 37 6 84573933 84573933 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016230.3 +1 validated p.R39* 1.000 293 0.3% 115 33.9% - - - - - NULL CYB5R4 51167 genome.wustl.edu 37 6 84634262 84634262 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016230.3 +1 validated p.L255 1.000 298 0% 172 34.9% - - - - - superfamily_HSP20_chap KIAA1009 22832 genome.wustl.edu 37 6 84885067 84885067 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014895.2 -1 validated e13-1 1.000 214 0% 96 20.8% - - - - - - NT5E 4907 genome.wustl.edu 37 6 86181033 86181033 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002526.2 +1 validated p.K214T 1.000 180 0% 83 15.7% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Metallophos,superfamily_SSF56300 ZNF292 23036 genome.wustl.edu 37 6 87925718 87925718 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015021.1 +1 validated p.R89Q 1.000 432 0% 196 37.2% - - benign(0.248) tolerated(0.05) neutral(0.370) NULL ZNF292 23036 genome.wustl.edu 37 6 87966540 87966540 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015021.1 +1 validated p.L1065I 1.000 155 0.6% 110 30% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZNF292 23036 genome.wustl.edu 37 6 87969797 87969797 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015021.1 +1 validated p.V2150 0.917 184 0% 110 34.5% - - - - - NULL ZNF292 23036 genome.wustl.edu 37 6 87970351 87970351 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015021.1 +1 validated p.R2335Q 1.000 129 0% 51 43.1% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL GJB7 375519 genome.wustl.edu 37 6 87994325 87994325 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198568.2 -1 validated p.E102D 0.919 207 0% 112 25% - - benign(0.187) tolerated(0.17) neutral(0.076) HMMPfam_Connexin C6orf165 154313 genome.wustl.edu 37 6 88119576 88119576 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031743.2 +1 validated p.E7K 1.000 486 0% 245 18.4% - - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL SLC35A1 10559 genome.wustl.edu 37 6 88210893 88210893 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006416.4 +1 reviewed p.K124N 1.000 274 0% 162 14.8% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Nuc_sug_transp,superfamily_SSF103481 RARS2 57038 genome.wustl.edu 37 6 88226595 88226595 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020320.3 -1 reviewed p.F505 0.574 319 0% 114 28.9% - - - - - HMMPfam_DALR_1,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases ORC3 23595 genome.wustl.edu 37 6 88311549 88311549 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181837.1 +1 reviewed p.R43* 1.000 244 0% 125 32.8% - - - - - HMMPfam_ORC3_N AKIRIN2 55122 genome.wustl.edu 37 6 88387569 88387569 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018064.3 -1 validated p.E166* 1.000 625 0.2% 312 35.6% - - - - - NULL CNR1 1268 genome.wustl.edu 37 6 88853636 88853636 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016083.4 -1 reviewed p.T453M 1.000 284 0% 161 33.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RRAGD 58528 genome.wustl.edu 37 6 90082231 90082231 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021244.4 -1 validated p.V326M 1.000 345 0% 177 37.3% - - probably_damaging(0.99) tolerated(0.25) deleterious(0.478) HMMPfam_Gtr1_RagA MDN1 23195 genome.wustl.edu 37 6 90450077 90450077 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014611.1 -1 provisional p.S1490Y 1.000 287 0% 191 32.5% - - benign(0.223) deleterious(0.03) neutral(0.387) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases MDN1 23195 genome.wustl.edu 37 6 90457135 90457135 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014611.1 -1 provisional p.R1273C 0.999 183 0% 108 46.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases MDN1 23195 genome.wustl.edu 37 6 90466006 90466006 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014611.1 -1 provisional p.G936* 1.000 510 0% 287 12.5% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases GJA10 84694 genome.wustl.edu 37 6 90605023 90605023 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032602.1 +1 validated p.R279I 0.063 139 0% 110 40.9% - - benign(0.016) deleterious(0.03) neutral(0.365) NULL EPHA7 2045 genome.wustl.edu 37 6 93969124 93969124 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004440.3 -1 reviewed p.F624 1.000 582 0% 259 35.5% - - - - - superfamily_Protein kinase-like (PK-like) EPHA7 2045 genome.wustl.edu 37 6 94120631 94120631 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004440.3 -1 reviewed p.E140D 1.000 437 0% 266 39.1% - - possibly_damaging(0.927) deleterious(0.03) deleterious(0.740) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like EPHA7 2045 genome.wustl.edu 37 6 94120637 94120637 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004440.3 -1 reviewed p.I138M 1.000 421 0% 271 42.8% - - benign(0) tolerated(0.12) neutral(0.261) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like UFL1 23376 genome.wustl.edu 37 6 96999380 96999380 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015323.4 +1 validated p.L630 0.998 102 0% 28 28.6% - - - - - NULL FHL5 9457 genome.wustl.edu 37 6 97052762 97052762 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020482.4 +1 reviewed p.S99F 1.000 163 0% 105 30.5% - - probably_damaging(1) tolerated(0.08) deleterious(0.800) superfamily_SSF57716 FHL5 9457 genome.wustl.edu 37 6 97058579 97058579 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020482.4 +1 reviewed p.D212 0.933 398 0% 213 35.2% - - - - - HMMPfam_LIM,HMMSmart_LIM,superfamily_SSF57716 FHL5 9457 genome.wustl.edu 37 6 97063599 97063599 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020482.4 +1 reviewed p.K269T 1.000 235 0% 151 35.8% - - benign(0.086) tolerated(0.12) neutral(0.267) HMMPfam_LIM,HMMSmart_LIM GPR63 81491 genome.wustl.edu 37 6 97247152 97247152 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143957.1 -1 validated p.F152L 0.644 218 0% 82 46.3% - - benign(0.001) tolerated(0.65) neutral(0.003) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MMS22L 253714 genome.wustl.edu 37 6 97627365 97627365 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198468.2 -1 predicted p.R819C 1.000 258 0% 87 39.1% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL MMS22L 253714 genome.wustl.edu 37 6 97711270 97711270 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198468.2 -1 predicted p.E295* 1.000 310 0.3% 139 35.3% - - - - - NULL PNISR 25957 genome.wustl.edu 37 6 99849236 99849236 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015491.1 -1 validated p.S533N 1.000 347 0% 225 35.6% - - benign(0.119) deleterious(0.04) neutral(0.358) NULL USP45 85015 genome.wustl.edu 37 6 99914628 99914628 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080481.1 -1 provisional p.E343* 1.000 342 0% 206 10.2% - - - - - HMMPfam_UCH,superfamily_Cysteine proteinases USP45 85015 genome.wustl.edu 37 6 99916422 99916422 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080481.1 -1 provisional p.K336E 1.000 413 0% 208 40.9% - - possibly_damaging(0.601) tolerated(0.07) deleterious(0.527) HMMPfam_UCH,superfamily_Cysteine proteinases USP45 85015 genome.wustl.edu 37 6 99936595 99936595 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080481.1 -1 provisional p.N194H 1.000 271 0% 143 38.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,PatternScan_UCH_2_1,superfamily_Cysteine proteinases PRDM13 59336 genome.wustl.edu 37 6 100061103 100061103 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021620.3 +1 validated p.D198N 0.130 20 0% 16 31.2% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL ASCC3 10973 genome.wustl.edu 37 6 101110385 101110385 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006828.2 -1 validated p.R772* 0.996 237 0% 120 28.3% - - - - - HMMSmart_HELICc,superfamily_SSF52540 HACE1 57531 genome.wustl.edu 37 6 105224687 105224687 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020771.3 -1 validated p.R598H 1.000 191 0% 95 32.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain BVES 11149 genome.wustl.edu 37 6 105564609 105564609 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007073.3 -1 reviewed p.L261 0.433 276 0% 123 39.8% - - - - - HMMPfam_Popeye,superfamily_cAMP-binding domain-like POPDC3 64208 genome.wustl.edu 37 6 105606227 105606227 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_024539.1 -1 validated NULL 0.000 21 0% 10 60% - - - - - - POPDC3 64208 genome.wustl.edu 37 6 105606461 105606461 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022361.4 -1 reviewed p.K254Q 0.003 333 0% 148 11.5% - - benign(0.003) tolerated(0.07) neutral(0.319) HMMPfam_Popeye PREP 5550 genome.wustl.edu 37 6 105736702 105736702 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002726.3 -1 reviewed p.L462S 1.000 378 0% 178 36.5% - - possibly_damaging(0.451) tolerated(0.1) neutral(0.434) superfamily_SSF53474 AIM1 202 genome.wustl.edu 37 6 106968304 106968304 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001624.2 +1 validated p.D666G 0.000 69 0% 29 13.8% - - benign(0) tolerated(0.69) neutral(0.002) NULL AIM1 202 genome.wustl.edu 37 6 106992668 106992668 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001624.2 +1 validated p.F1316L 0.991 304 0% 145 42.1% - - probably_damaging(0.987) tolerated(0.19) deleterious(0.486) superfamily_G_crystallin_SF RTN4IP1 84816 genome.wustl.edu 37 6 107019882 107019882 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032730.4 -1 reviewed p.N394H 0.321 290 0% 158 43% - - benign(0.397) tolerated(0.05) deleterious(0.473) NULL PDSS2 57107 genome.wustl.edu 37 6 107566762 107566762 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020381.3 -1 reviewed p.S231Y 1.000 150 0% 57 19.3% - - benign(0.104) deleterious(0.01) neutral(0.414) superfamily_Terpenoid synthases SEC63 11231 genome.wustl.edu 37 6 108222673 108222673 + Missense_Mutation SNP G G A rs192072257 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007214.4 -1 reviewed p.R420C 1.000 197 0.5% 117 30.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec63,HMMSmart_SEC63 OSTM1 28962 genome.wustl.edu 37 6 108375736 108375736 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014028.3 -1 reviewed p.N191 0.001 309 0% 154 33.8% - - - - - HMMPfam_OSTMP1 ARMC2 84071 genome.wustl.edu 37 6 109294631 109294631 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032131.4 +1 validated p.E840* 1.000 333 0% 148 30.4% - - - - - superfamily_ARM-type_fold CEP57L1 285753 genome.wustl.edu 37 6 109468102 109468102 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001083535.1 +1 validated p.R101I 0.998 117 0% 38 36.8% - - possibly_damaging(0.929) deleterious(0.02) deleterious(0.759) NULL CEP57L1 285753 genome.wustl.edu 37 6 109480232 109480232 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001083535.1 +1 validated p.T250N 0.044 254 0% 105 35.2% - - benign(0.003) tolerated(0.44) neutral(0.013) HMMPfam_DUF1167 PPIL6 285755 genome.wustl.edu 37 6 109748325 109748325 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173672.4 -1 validated p.S152Y 0.000 453 0% 143 37.8% - - benign(0.359) deleterious(0) deleterious(0.558) HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like SMPD2 6610 genome.wustl.edu 37 6 109764052 109764052 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003080.2 +1 validated p.L197F 0.920 105 0% 67 34.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos MICAL1 64780 genome.wustl.edu 37 6 109766179 109766179 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022765.3 -1 validated p.K967N 0.669 191 0% 127 32.3% - - benign(0.008) deleterious(0.03) neutral(0.364) NULL ZBTB24 9841 genome.wustl.edu 37 6 109787230 109787230 + Missense_Mutation SNP G G C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014797.2 -1 validated p.L640V 0.995 382 0% 213 36.2% - - probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL AKD1 221264 genome.wustl.edu 37 6 109814644 109814644 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000470564 -1 known p.S726* 0.003 426 0% 247 36.8% - - possibly_damaging(0.819) tolerated(0.81) neutral(0.310) NULL AKD1 221264 genome.wustl.edu 37 6 109814755 109814755 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000490722 -1 known p.R252* 0.841 163 0% 111 35.1% - - - - - NULL AKD1 221264 genome.wustl.edu 37 6 109867255 109867255 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000424296 -1 known p.K93Q 0.973 176 0% 105 11.4% - - benign(0.201) tolerated(0.65) neutral(0.022) superfamily_SSF52540 AKD1 221264 genome.wustl.edu 37 6 109871346 109871346 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145128.2 -1 provisional p.E971* 1.000 394 0% 211 34.6% - - - - - HMMPfam_YHS AKD1 221264 genome.wustl.edu 37 6 109906406 109906406 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000466992 -1 known p.E249* 0.944 60 0% 19 36.8% - - benign(0) tolerated(1) - NULL WASF1 8936 genome.wustl.edu 37 6 110426647 110426647 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001024934.1 -1 reviewed p.E226* 1.000 144 0% 116 26.7% - - - - - NULL CDC40 51362 genome.wustl.edu 37 6 110540948 110540948 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015891.2 +1 reviewed p.R406* 1.000 592 0% 323 36.8% - - - - - superfamily_WD40_like METTL24 728464 genome.wustl.edu 37 6 110636560 110636560 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001123364.1 -1 inferred p.R181H 1.000 300 0% 172 34.9% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL SLC22A16 85413 genome.wustl.edu 37 6 110768183 110768183 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033125.2 -1 provisional p.R182W 0.908 117 0% 52 21.2% - - probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMPfam_MFS_1,superfamily_MFS general substrate transporter RPF2 84154 genome.wustl.edu 37 6 111310216 111310216 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000454951 +1 known p.N9H 0.501 276 0% 106 23.6% - - possibly_damaging(0.886) - - HMMPfam_Brix RPF2 84154 genome.wustl.edu 37 6 111320937 111320937 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032194.1 +1 validated p.L114 1.000 530 0% 265 29.4% - - - - - HMMPfam_Brix SLC16A10 117247 genome.wustl.edu 37 6 111543349 111543349 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018593.4 +1 validated p.E487* 0.999 378 0% 199 32.2% - - - - - superfamily_MFS_gen_substrate_transporter REV3L 5980 genome.wustl.edu 37 6 111665170 111665170 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002912.3 -1 validated p.R2499Q 1.000 159 0% 96 37.5% - - possibly_damaging(0.777) tolerated(0.34) neutral(0.313) HMMSmart_SM00486,superfamily_Ribonuclease H-like REV3L 5980 genome.wustl.edu 37 6 111688371 111688371 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002912.3 -1 validated p.R2207I 1.000 269 0% 138 32.6% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_Ribonuclease H-like REV3L 5980 genome.wustl.edu 37 6 111693940 111693940 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002912.3 -1 validated p.R1873Q 1.000 344 0% 245 33.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Ribonuclease H-like REV3L 5980 genome.wustl.edu 37 6 111694380 111694380 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002912.3 -1 validated p.E1726D 1.000 496 0% 265 37.4% - - benign(0.008) tolerated(0.32) neutral(0.024) superfamily_Ribonuclease H-like REV3L 5980 genome.wustl.edu 37 6 111698985 111698985 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002912.3 -1 validated p.E506* 1.000 263 0% 235 36.2% - - - - - superfamily_Ribonuclease H-like FYN 2534 genome.wustl.edu 37 6 112020823 112020823 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153047.1 -1 reviewed p.T250A 1.000 411 0% 210 33.3% - - benign(0.001) tolerated(0.42) neutral(0.014) superfamily_Kinase_like,superfamily_SSF55550 TUBE1 51175 genome.wustl.edu 37 6 112400954 112400954 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016262.4 -1 reviewed p.A110 0.971 142 0% 77 29.9% - - - - - HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like LAMA4 3910 genome.wustl.edu 37 6 112441673 112441673 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105206.1 -1 reviewed p.S1493Y 1.000 137 0% 90 36.7% - - possibly_damaging(0.908) tolerated(0.05) deleterious(0.707) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases FRK 2444 genome.wustl.edu 37 6 116264282 116264282 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002031.2 -1 reviewed p.E403K 1.000 279 0.4% 157 29.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like DSE 29940 genome.wustl.edu 37 6 116757017 116757017 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080976.1 +1 reviewed p.P462 1.000 142 0% 77 16.9% - - - - - NULL DSE 29940 genome.wustl.edu 37 6 116758155 116758155 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080976.1 +1 reviewed p.I842V 1.000 310 0% 138 41.3% - - benign(0) tolerated(1) - NULL FAM26F 441168 genome.wustl.edu 37 6 116783268 116783268 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010919.1 +1 predicted p.P59Q 0.989 11 0% 14 71.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GPRC6A 222545 genome.wustl.edu 37 6 117113780 117113780 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_148963.2 -1 validated p.F769C 0.299 135 0% 74 43.2% - - benign(0.004) tolerated(0.16) neutral(0.059) HMMPfam_7tm_3 VGLL2 245806 genome.wustl.edu 37 6 117589520 117589520 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182645.2 +1 provisional p.V86A 1.000 89 0% 60 38.3% - - possibly_damaging(0.882) deleterious(0) deleterious(0.789) HMMPfam_Vg_Tdu VGLL2 245806 genome.wustl.edu 37 6 117593622 117593622 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182645.2 +1 provisional p.R307C 0.976 597 0% 349 33.8% - - benign(0.09) deleterious(0.04) neutral(0.355) NULL ROS1 6098 genome.wustl.edu 37 6 117678052 117678052 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002944.2 -1 reviewed p.N1294S 0.006 525 0% 230 35.7% - - benign(0) tolerated(0.4) neutral(0.016) superfamily_SSF63825 ROS1 6098 genome.wustl.edu 37 6 117687296 117687296 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002944.2 -1 reviewed p.E919K 0.978 387 0.3% 175 35.4% - - possibly_damaging(0.896) tolerated(0.25) neutral(0.390) superfamily_SSF63825 ROS1 6098 genome.wustl.edu 37 6 117709019 117709019 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002944.2 -1 reviewed p.K646 0.340 189 0% 124 32.3% - - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like ROS1 6098 genome.wustl.edu 37 6 117710657 117710657 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002944.2 -1 reviewed p.E539* 1.000 252 0% 92 30.4% - - - - - superfamily_SSF63825 ROS1 6098 genome.wustl.edu 37 6 117718107 117718107 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002944.2 -1 reviewed p.F250L 1.000 316 0.3% 146 35.6% - - probably_damaging(0.971) tolerated(0.08) deleterious(0.713) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like SLC35F1 222553 genome.wustl.edu 37 6 118556788 118556788 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001029858.3 +1 validated p.T156A 1.000 304 0% 152 28.9% - - possibly_damaging(0.704) tolerated(0.16) neutral(0.313) HMMPfam_DUF914 SLC35F1 222553 genome.wustl.edu 37 6 118596682 118596682 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001029858.3 +1 validated p.S233Y 1.000 330 0% 159 38.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF914 CEP85L 387119 genome.wustl.edu 37 6 118790351 118790351 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042475.2 -1 validated p.D713G 1.000 223 0% 108 38.9% - - benign(0.078) tolerated(0.4) neutral(0.021) NULL MAN1A1 4121 genome.wustl.edu 37 6 119525969 119525969 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005907.2 -1 reviewed p.F357L 0.978 221 0% 125 32.8% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 C6orf170 221322 genome.wustl.edu 37 6 121544405 121544405 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152730.4 -1 validated p.R820S 1.000 317 0% 94 34% - - probably_damaging(1) tolerated(0.12) deleterious(0.760) NULL SERINC1 57515 genome.wustl.edu 37 6 122775054 122775054 + Splice_Site SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020755.2 -1 provisional e5-2 1.000 218 0% 128 30.5% - - - - - - SMPDL3A 10924 genome.wustl.edu 37 6 123126229 123126229 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006714.3 +1 validated p.K305T 0.010 74 0% 53 34% - - benign(0) tolerated(0.29) neutral(0.029) superfamily_SSF56300 CLVS2 134829 genome.wustl.edu 37 6 123332150 123332150 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010852.2 +1 provisional p.L137S 1.000 307 0% 178 35.4% - - possibly_damaging(0.574) deleterious(0.02) deleterious(0.580) HMMPfam_CRAL_TRIO,HMMSmart_SM00516,superfamily_CRAL/TRIO domain TRDN 10345 genome.wustl.edu 37 6 123539882 123539882 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006073.2 -1 validated p.P685L 1.000 338 0% 177 36.7% - - unknown(0) deleterious(0) - NULL TRDN 10345 genome.wustl.edu 37 6 123892070 123892070 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006073.2 -1 validated p.S77L 0.999 122 0% 62 45.2% - - possibly_damaging(0.916) deleterious(0.01) deleterious(0.772) HMMPfam_Triadin HDDC2 51020 genome.wustl.edu 37 6 125598320 125598320 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016063.2 -1 validated p.L149I 1.000 514 0% 236 39% - - possibly_damaging(0.61) deleterious(0.04) deleterious(0.560) HMMSmart_SM00471 NCOA7 135112 genome.wustl.edu 37 6 126210307 126210307 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181782.3 +1 validated p.E369D 0.000 103 0% 52 34.6% - - benign(0) tolerated(0.3) neutral(0.029) NULL NCOA7 135112 genome.wustl.edu 37 6 126236596 126236596 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181782.3 +1 validated p.F738L 1.000 217 0% 110 39.1% - - possibly_damaging(0.64) tolerated(0.64) neutral(0.227) NULL TRMT11 60487 genome.wustl.edu 37 6 126319386 126319386 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031712.2 +1 validated p.S104 0.932 241 0% 120 30.8% - - - - - NULL TRMT11 60487 genome.wustl.edu 37 6 126319454 126319454 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031712.2 +1 validated p.R127Q 0.996 213 0% 89 24.7% - - possibly_damaging(0.747) tolerated(0.06) deleterious(0.597) NULL RNF146 81847 genome.wustl.edu 37 6 127608731 127608731 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030963.2 +1 provisional p.R324* 0.970 154 0% 113 31.9% - - - - - NULL KIAA0408 9729 genome.wustl.edu 37 6 127768437 127768437 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014702.4 -1 validated p.E343* 0.076 357 0% 227 34.4% - - - - - NULL KIAA0408 9729 genome.wustl.edu 37 6 127771265 127771265 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014702.4 -1 validated p.K123T 0.494 371 0% 221 29.4% - - probably_damaging(0.958) tolerated(0.09) deleterious(0.698) NULL C6orf58 352999 genome.wustl.edu 37 6 127901522 127901522 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010905.1 +1 predicted p.K167N 0.080 628 0% 331 30.5% - - benign(0.045) tolerated(0.39) neutral(0.018) HMMPfam_DUF781 THEMIS 387357 genome.wustl.edu 37 6 128134836 128134836 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010923.2 -1 reviewed p.R317I 0.999 362 0% 212 40.6% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL PTPRK 5796 genome.wustl.edu 37 6 128312456 128312456 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135648.1 -1 validated p.L994V 1.000 443 0% 179 39.1% - - possibly_damaging(0.893) deleterious(0) deleterious(0.796) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 LAMA2 3908 genome.wustl.edu 37 6 129670454 129670454 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000426.3 +1 reviewed p.S1483Y 0.685 268 0% 123 45.5% - - possibly_damaging(0.761) deleterious(0.01) deleterious(0.688) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_ConA_like_lec_gl,superfamily_SSF57196 LAMA2 3908 genome.wustl.edu 37 6 129723506 129723506 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000426.3 +1 reviewed p.S1867Y 1.000 272 0% 134 38.1% - - probably_damaging(0.976) tolerated(0.05) deleterious(0.763) superfamily_ConA_like_lec_gl,superfamily_SSF56399 TMEM244 253582 genome.wustl.edu 37 6 130166964 130166964 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010876.1 -1 provisional p.L23I 0.885 229 0% 86 26.7% - - benign(0.35) tolerated(1) neutral(0.111) NULL TMEM244 253582 genome.wustl.edu 37 6 130166979 130166979 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010876.1 -1 provisional p.L18I 0.022 222 0% 76 42.1% - - benign(0.35) deleterious(0) deleterious(0.555) NULL SAMD3 154075 genome.wustl.edu 37 6 130467220 130467220 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017373.2 -1 validated p.D377G 1.000 360 0% 167 24% - - probably_damaging(0.979) tolerated(0.06) deleterious(0.744) NULL SAMD3 154075 genome.wustl.edu 37 6 130497032 130497032 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017373.2 -1 validated p.S259Y 0.997 292 0% 169 12.4% - - possibly_damaging(0.91) deleterious(0) deleterious(0.807) NULL TMEM200A 114801 genome.wustl.edu 37 6 130762066 130762066 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052913.2 +1 provisional p.V167F 1.000 200 0% 75 37.3% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL AKAP7 9465 genome.wustl.edu 37 6 131486234 131486234 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016377.2 +1 reviewed p.I80S 1.000 194 0% 112 14.3% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) superfamily_LigT-like,HMMPfam_AKAP7_NLS AKAP7 9465 genome.wustl.edu 37 6 131520624 131520624 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016377.2 +1 reviewed p.E183* 1.000 309 0% 161 35.4% - - - - - superfamily_LigT-like,HMMPfam_AKAP7_NLS MED23 9439 genome.wustl.edu 37 6 131917667 131917667 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004830.2 -1 reviewed p.N923K 0.998 413 0% 217 35.9% - - benign(0.002) tolerated(0.56) neutral(0.006) NULL ENPP3 5169 genome.wustl.edu 37 6 131973729 131973729 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005021.3 +1 reviewed p.E109K 0.000 458 0% 224 41.1% - - benign(0.344) tolerated(0.24) neutral(0.146) HMMPfam_Somatomedin_B,HMMSmart_SO,superfamily_SSF90188 OR2A4 79541 genome.wustl.edu 37 6 132021637 132021637 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030908.1 -1 provisional p.R302I 0.104 960 0% 400 5.5% - - possibly_damaging(0.775) deleterious(0) deleterious(0.733) superfamily_SSF81321 CTAGE9 643854 genome.wustl.edu 37 6 132030480 132030480 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145659.1 -1 provisional p.G560S 0.000 1322 0% 711 11.4% - - benign(0.004) tolerated(0.06) neutral(0.323) NULL LOC100131774 100131774 genome.wustl.edu 37 6 132270605 132270605 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001717693.2 +1 model p.E174* 1.000 306 0% 177 19.2% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL MOXD1 26002 genome.wustl.edu 37 6 132649197 132649197 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015529.2 -1 validated p.Y301D 0.996 206 0% 95 30.5% - - probably_damaging(0.971) deleterious(0.01) deleterious(0.819) HMMPfam_Cu2_monooxygen,superfamily_PHM/PNGase F TAAR9 134860 genome.wustl.edu 37 6 132860470 132860470 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175057.3 +1 reviewed p.D348N 0.000 136 0% 79 16.5% - - - - - NULL TAAR2 9287 genome.wustl.edu 37 6 132938347 132938347 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001033080.1 -1 validated p.K333T 1.000 133 0% 51 43.1% - - benign(0) tolerated(0.07) neutral(0.319) superfamily_Family A G protein-coupled receptor-like TAAR1 134864 genome.wustl.edu 37 6 132966432 132966432 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138327.1 -1 provisional p.M237I 0.066 176 0% 94 19.1% - - benign(0.014) tolerated(0.11) neutral(0.272) HMMPfam_7tm_1,superfamily_SSF81321 RPS12 6206 genome.wustl.edu 37 6 133137686 133137686 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001016.3 +1 reviewed p.Q73R 1.000 287 0% 195 30.8% - - possibly_damaging(0.639) tolerated(0.06) deleterious(0.546) HMMPfam_Ribosomal_L7Ae,superfamily_L30e-like EYA4 2070 genome.wustl.edu 37 6 133783489 133783489 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004100.4 +1 reviewed p.L152I 1.000 522 0% 261 36.8% - - probably_damaging(0.994) tolerated(0.14) deleterious(0.702) NULL EYA4 2070 genome.wustl.edu 37 6 133789786 133789786 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004100.4 +1 reviewed p.S296L 0.902 198 0% 136 33.1% - - possibly_damaging(0.712) deleterious(0.01) deleterious(0.663) NULL TCF21 6943 genome.wustl.edu 37 6 134210561 134210561 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003206.3 +1 reviewed p.V9A 1.000 94 0% 41 36.6% - - benign(0.126) tolerated(0.53) neutral(0.018) NULL SLC2A12 154091 genome.wustl.edu 37 6 134349695 134349695 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145176.2 -1 validated p.R423K 0.032 465 0% 227 14.1% - - benign(0) tolerated(0.94) - HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter HBS1L 10767 genome.wustl.edu 37 6 135360726 135360726 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006620.3 -1 reviewed p.G139* 0.742 301 0% 172 36.6% - - - - - NULL BCLAF1 9774 genome.wustl.edu 37 6 136589371 136589371 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014739.2 -1 reviewed p.E776* 1.000 929 0% 487 15.4% - - - - - NULL BCLAF1 9774 genome.wustl.edu 37 6 136599171 136599171 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014739.2 -1 reviewed p.R283Q 1.000 493 0.2% 254 13.4% - - possibly_damaging(0.772) deleterious(0) deleterious(0.732) NULL BCLAF1 9774 genome.wustl.edu 37 6 136599723 136599723 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014739.2 -1 reviewed p.R99K 1.000 185 0% 94 16% - - unknown(0) tolerated(0.56) - NULL MAP3K5 4217 genome.wustl.edu 37 6 136901528 136901528 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005923.3 -1 reviewed p.R1143Q 1.000 289 0% 167 31.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MAP3K5 4217 genome.wustl.edu 37 6 136913424 136913424 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005923.3 -1 reviewed p.D1038Y 1.000 227 0% 105 15.2% - - probably_damaging(0.954) deleterious(0.01) deleterious(0.803) NULL PEX7 5191 genome.wustl.edu 37 6 137193352 137193352 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000288.3 +1 reviewed p.A255V 1.000 399 0% 192 37% - - benign(0.146) tolerated(0.23) neutral(0.054) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 OLIG3 167826 genome.wustl.edu 37 6 137815154 137815154 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175747.2 -1 provisional p.P52T 0.961 96 0% 52 26.9% - - benign(0.001) tolerated(0.65) neutral(0.003) NULL PBOV1 59351 genome.wustl.edu 37 6 138539131 138539131 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021635.2 -1 validated p.I134 0.000 301 0% 168 13.1% - - - - - NULL KIAA1244 57221 genome.wustl.edu 37 6 138584581 138584581 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020340.4 +1 validated p.R654Q 1.000 95 0% 65 40% - - probably_damaging(0.999) tolerated(0.26) deleterious(0.524) HMMSmart_Sec7 ECT2L 345930 genome.wustl.edu 37 6 139164148 139164148 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077706.1 +1 validated p.F125 0.991 212 0.5% 145 42.1% - - - - - superfamily_SSF81383 ECT2L 345930 genome.wustl.edu 37 6 139167718 139167718 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077706.1 +1 validated p.K269N 0.921 291 0% 148 35.8% - - benign(0.002) deleterious(0) neutral(0.445) NULL ECT2L 345930 genome.wustl.edu 37 6 139189335 139189335 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077706.1 +1 validated p.E524* 0.704 204 0.5% 102 26.5% - - - - - NULL HECA 51696 genome.wustl.edu 37 6 139488200 139488200 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016217.2 +1 reviewed p.E351K 1.000 48 0% 29 34.5% - - possibly_damaging(0.942) tolerated(0.2) neutral(0.436) NULL NMBR 4829 genome.wustl.edu 37 6 142396839 142396839 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002511.2 -1 validated p.V373 1.000 133 0% 95 24.2% - - - - - NULL NMBR 4829 genome.wustl.edu 37 6 142409751 142409751 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002511.2 -1 validated p.A15 0.000 29 0% 26 34.6% - - - - - NULL GPR126 57211 genome.wustl.edu 37 6 142691386 142691386 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198569.2 +1 reviewed p.I175 1.000 215 0% 144 27.8% - - - - - superfamily_ConA_like_lec_gl GPR126 57211 genome.wustl.edu 37 6 142723919 142723919 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198569.2 +1 reviewed p.S636Y 1.000 195 0% 90 18.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HIVEP2 3097 genome.wustl.edu 37 6 143081734 143081734 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006734.3 -1 provisional p.F1897L 1.000 157 0% 85 38.8% - - probably_damaging(0.987) deleterious(0.02) deleterious(0.820) NULL HIVEP2 3097 genome.wustl.edu 37 6 143092433 143092433 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006734.3 -1 provisional p.S1148L 0.021 38 0% 26 34.6% - - benign(0.059) deleterious(0.01) neutral(0.410) NULL HIVEP2 3097 genome.wustl.edu 37 6 143094052 143094052 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006734.3 -1 provisional p.V608 0.000 230 0% 177 16.4% - - - - - NULL HIVEP2 3097 genome.wustl.edu 37 6 143095580 143095580 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006734.3 -1 provisional p.S99Y 1.000 175 0% 121 34.7% - - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL AIG1 51390 genome.wustl.edu 37 6 143605277 143605277 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016108.2 +1 validated p.E144K 1.000 259 0% 170 28.8% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Far-17a_AIG1 ADAT2 134637 genome.wustl.edu 37 6 143749816 143749816 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182503.2 -1 validated p.I155 0.999 181 0% 82 34.1% - - - - - superfamily_Cytidine deaminase-like LTV1 84946 genome.wustl.edu 37 6 144165737 144165737 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032860.3 +1 provisional p.L40I 1.000 217 0% 114 35.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_LTV UTRN 7402 genome.wustl.edu 37 6 144724321 144724321 + Splice_Site SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007124.2 +1 reviewed e2+1 1.000 195 0% 105 33.3% - - - - - - UTRN 7402 genome.wustl.edu 37 6 144768368 144768368 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007124.2 +1 reviewed p.T546A 1.000 342 0% 152 36.2% - - benign(0.228) tolerated(0.18) neutral(0.079) HMMSmart_SPEC,superfamily_Spectrin SHPRH 257218 genome.wustl.edu 37 6 146264653 146264653 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042683.2 -1 validated p.E622* 0.888 449 0% 234 20.1% - - - - - HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases SHPRH 257218 genome.wustl.edu 37 6 146264800 146264800 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042683.2 -1 validated p.R573C 0.001 598 0% 259 35.5% - - probably_damaging(0.994) tolerated(0.09) deleterious(0.748) HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases GRM1 2911 genome.wustl.edu 37 6 146720812 146720812 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000838.3 +1 reviewed p.K879N 1.000 44 0% 26 15.4% - - unknown(0) deleterious(0.03) - NULL ADGB 79747 genome.wustl.edu 37 6 146920210 146920210 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024694.3 +1 provisional p.H12Y 0.989 158 0% 99 10.1% - - unknown(0) - - NULL ADGB 79747 genome.wustl.edu 37 6 146977978 146977978 + Nonsense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024694.3 +1 provisional p.Y158* 0.000 251 0% 119 32.8% - - - - - HMMSmart_SM00230,superfamily_Cysteine proteinases ADGB 79747 genome.wustl.edu 37 6 147073671 147073671 + Missense_Mutation SNP C C T rs186199600 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024694.3 +1 provisional p.S1124L 0.910 194 0% 114 27.2% - - benign(0.205) tolerated(0.35) neutral(0.041) NULL STXBP5 134957 genome.wustl.edu 37 6 147637521 147637521 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127715.1 +1 reviewed p.R594C 1.000 253 0.4% 84 36.9% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL C6orf72 116254 genome.wustl.edu 37 6 149893649 149893649 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138785.3 +1 predicted p.L63I 1.000 399 0% 207 33.8% - - possibly_damaging(0.615) deleterious(0) deleterious(0.658) NULL LATS1 9113 genome.wustl.edu 37 6 149997856 149997856 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004690.2 -1 reviewed p.D871Y 1.000 148 0% 114 15.8% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LATS1 9113 genome.wustl.edu 37 6 150023019 150023019 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004690.2 -1 reviewed p.R82* 1.000 401 0% 238 34% - - - - - NULL ULBP2 80328 genome.wustl.edu 37 6 150267620 150267620 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025217.2 +1 provisional p.E154D 0.001 850 0% 542 36.5% - - benign(0.073) tolerated(0.37) neutral(0.024) HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain ULBP2 80328 genome.wustl.edu 37 6 150267668 150267668 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025217.2 +1 provisional p.E170D 0.000 972 0% 612 41.3% - - benign(0.031) tolerated(0.09) neutral(0.298) HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain IYD 389434 genome.wustl.edu 37 6 150690236 150690236 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_203395.2 +1 reviewed p.A23 0.003 197 0% 120 36.7% - - - - - NULL PLEKHG1 57480 genome.wustl.edu 37 6 151152274 151152274 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001029884.1 +1 provisional p.R676Q 1.000 64 0% 38 42.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MTHFD1L 25902 genome.wustl.edu 37 6 151198960 151198960 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015440.3 +1 validated p.E139K 0.989 304 0% 173 35.3% - - possibly_damaging(0.929) deleterious(0) deleterious(0.821) HMMPfam_THF_DHG_CYH,superfamily_Aminoacid dehydrogenase-like N-terminal domain MTHFD1L 25902 genome.wustl.edu 37 6 151270236 151270236 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015440.3 +1 validated p.D565N 0.989 257 0% 159 13.2% - - benign(0.194) tolerated(0.34) neutral(0.041) HMMPfam_FTHFS,superfamily_P-loop containing nucleoside triphosphate hydrolases AKAP12 9590 genome.wustl.edu 37 6 151672558 151672558 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005100.3 +1 reviewed p.D1011G 0.890 121 0% 62 30.6% - - possibly_damaging(0.667) deleterious(0.02) deleterious(0.619) NULL SYNE1 23345 genome.wustl.edu 37 6 152451882 152451882 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182961.2 -1 reviewed p.G8709E 1.000 310 0% 184 42.9% - - probably_damaging(1) tolerated(0.23) deleterious(0.541) NULL SYNE1 23345 genome.wustl.edu 37 6 152469279 152469279 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182961.2 -1 reviewed p.R8293W 1.000 123 0% 80 37.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SYNE1 23345 genome.wustl.edu 37 6 152539529 152539529 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182961.2 -1 reviewed p.L7352I 1.000 281 0% 128 28.1% - - benign(0.004) tolerated(0.54) neutral(0.007) HMMPfam_Spectrin,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152540227 152540227 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182961.2 -1 reviewed p.A7319T 0.488 223 0% 127 28.3% - - benign(0.245) tolerated(0.19) neutral(0.075) HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152540249 152540249 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182961.2 -1 reviewed p.K7311N 1.000 227 0% 127 19.7% - - benign(0.148) tolerated(0.28) neutral(0.044) HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152602997 152602997 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182961.2 -1 reviewed p.A6109V 0.115 156 0% 105 32.4% - - benign(0.016) tolerated(0.44) neutral(0.013) HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152642909 152642909 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182961.2 -1 reviewed p.E5344* 1.000 493 0% 219 33.3% - - - - - NULL SYNE1 23345 genome.wustl.edu 37 6 152647148 152647148 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182961.2 -1 reviewed p.S5128Y 0.998 562 0% 244 40.6% - - possibly_damaging(0.644) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152651692 152651692 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182961.2 -1 reviewed p.L4710I 0.000 160 0% 93 10.8% - - benign(0.002) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152651831 152651831 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182961.2 -1 reviewed p.F4663L 0.968 178 0% 89 34.8% - - benign(0.004) - - HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152652612 152652612 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182961.2 -1 reviewed p.S4403L 0.020 153 0% 109 34.9% - - benign(0.009) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152686049 152686049 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182961.2 -1 reviewed p.Q3360K 1.000 339 0% 224 37.1% - - benign(0.123) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152720894 152720894 + Missense_Mutation SNP C C G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182961.2 -1 reviewed p.S2365T 0.118 525 0% 273 38.1% - - benign(0) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152737717 152737717 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182961.2 -1 reviewed p.A1952V 0.752 279 0% 212 36.3% - - benign(0) - - superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152784520 152784520 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182961.2 -1 reviewed p.R689W 0.362 235 0% 106 34% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152823847 152823847 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182961.2 -1 reviewed p.S270Y 1.000 277 0% 202 33.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain FBXO5 26271 genome.wustl.edu 37 6 153292504 153292504 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012177.3 -1 reviewed p.R380C 0.970 217 0% 119 37.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FBXO5 26271 genome.wustl.edu 37 6 153296106 153296106 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012177.3 -1 reviewed p.R252* 0.869 275 0% 146 32.2% - - - - - HMMPfam_F-box MTRF1L 54516 genome.wustl.edu 37 6 153316342 153316342 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019041.5 -1 validated p.D151G 1.000 221 0% 116 34.5% - - probably_damaging(0.973) tolerated(0.07) deleterious(0.734) HMMPfam_PCRF,superfamily_Release factor (Pfam 00472) CNKSR3 154043 genome.wustl.edu 37 6 154727733 154727733 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173515.2 -1 validated p.E475* 1.000 166 0% 83 28.9% - - - - - HMMPfam_DUF1170 SCAF8 22828 genome.wustl.edu 37 6 155095157 155095157 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014892.3 +1 validated p.S22L 1.000 475 0% 234 39.3% - - unknown(0) deleterious(0) - HMMSmart_RPR,superfamily_ENTH_VHS SCAF8 22828 genome.wustl.edu 37 6 155153661 155153661 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014892.3 +1 validated p.F983C 1.000 100 0% 55 27.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NOX3 50508 genome.wustl.edu 37 6 155776037 155776037 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015718.2 -1 reviewed p.R55* 0.964 107 0% 120 51.7% - - - - - HMMPfam_Ferric_reduct ARID1B 57492 genome.wustl.edu 37 6 157527627 157527627 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017519.2 +1 validated p.F1766 0.996 60 0% 51 13.7% - - - - - NULL ZDHHC14 79683 genome.wustl.edu 37 6 158066798 158066798 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024630.2 +1 provisional p.S261Y 0.936 346 0% 249 16.5% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL SNX9 51429 genome.wustl.edu 37 6 158323016 158323016 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016224.3 +1 reviewed p.G187C 0.955 185 0% 103 35.9% - - probably_damaging(0.993) deleterious(0.01) deleterious(0.856) NULL TMEM181 57583 genome.wustl.edu 37 6 159050772 159050772 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020823.1 +1 validated p.F538L 0.825 460 0% 309 20.7% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL DYNLT1 6993 genome.wustl.edu 37 6 159057915 159057915 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006519.2 -1 validated p.R96* 1.000 69 0% 48 31.2% - - - - - HMMPfam_Tctex-1 RSPH3 83861 genome.wustl.edu 37 6 159414906 159414906 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031924.4 -1 validated p.R199* 0.987 339 0% 192 40.6% - - - - - HMMPfam_Radial_spoke_3 TAGAP 117289 genome.wustl.edu 37 6 159457840 159457840 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_054114.3 -1 reviewed p.P405 0.039 99 0% 60 35% - - - - - NULL TAGAP 117289 genome.wustl.edu 37 6 159460322 159460322 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_054114.3 -1 reviewed p.R203W 0.000 216 0% 127 34.6% - - probably_damaging(0.994) deleterious(0.04) deleterious(0.801) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP ACAT2 39 genome.wustl.edu 37 6 160184041 160184041 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005891.2 +1 reviewed p.P49L 0.186 278 0% 212 33% - - probably_damaging(0.982) deleterious(0.03) deleterious(0.791) HMMPfam_Thiolase_N,superfamily_Thiolase-like TCP1 6950 genome.wustl.edu 37 6 160200091 160200091 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030752.2 -1 reviewed p.A553S 0.986 173 0% 77 50.6% - - benign(0) tolerated(0.32) neutral(0.024) NULL IGF2R 3482 genome.wustl.edu 37 6 160509121 160509121 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000876.2 +1 reviewed p.A2088T 0.005 186 0% 116 35.3% - - benign(0.002) tolerated(0.18) neutral(0.056) HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain SLC22A1 6580 genome.wustl.edu 37 6 160553319 160553319 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003057.2 +1 reviewed p.V191M 0.916 255 0% 221 36.2% - - benign(0.044) tolerated(0.1) neutral(0.289) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A2 6582 genome.wustl.edu 37 6 160671638 160671638 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003058.2 -1 reviewed p.I205M 0.168 263 0% 149 38.9% - - benign(0.179) deleterious(0.01) neutral(0.422) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter SLC22A3 6581 genome.wustl.edu 37 6 160857811 160857811 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021977.2 +1 reviewed e6-1 1.000 299 0% 151 35.8% - - - - - - LOC100289195 100289195 genome.wustl.edu 37 6 160874554 160874554 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342678.1 -1 model p.S268Y 1.000 761 0% 358 24% - - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases PLG 5340 genome.wustl.edu 37 6 161155096 161155096 + Missense_Mutation SNP G G A rs182937977 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000301.3 +1 reviewed p.D553N 1.000 447 0% 243 26.7% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_Kringle,HMMSmart_KR,superfamily_Kringle-like MAP3K4 4216 genome.wustl.edu 37 6 161508889 161508889 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005922.2 +1 reviewed p.R909Q 0.001 146 0% 104 12.5% - - possibly_damaging(0.756) tolerated(0.41) neutral(0.294) NULL AGPAT4 56895 genome.wustl.edu 37 6 161570222 161570222 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020133.2 -1 reviewed p.V255A 1.000 355 0% 181 18.8% - - probably_damaging(0.998) tolerated(0.11) deleterious(0.746) superfamily_SSF69593 LOC100129958 100129958 genome.wustl.edu 37 6 162989888 162989888 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001719102.1 +1 model p.E125 1.000 24 0.000 8 0.500 - - - - - HMMPfam_Filament C6orf118 168090 genome.wustl.edu 37 6 165703464 165703464 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144980.3 -1 validated p.E405* 0.999 357 0% 162 39.5% - - - - - NULL BRP44L 51660 genome.wustl.edu 37 6 166779476 166779476 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016098.2 -1 validated p.R97 0.979 232 0% 147 29.3% - - - - - HMMPfam_UPF0041 CCR6 1235 genome.wustl.edu 37 6 167550216 167550216 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004367.5 +1 reviewed p.I166 0.870 159 0% 109 36.7% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 CCR6 1235 genome.wustl.edu 37 6 167550301 167550301 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004367.5 +1 reviewed p.D195N 0.135 234 0% 136 34.6% - - benign(0.001) tolerated(0.46) neutral(0.012) HMMPfam_7tm_1,superfamily_SSF81321 TCP10L2 401285 genome.wustl.edu 37 6 167585719 167585719 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145121.1 +1 inferred p.E29D 0.000 81 0% 79 11.4% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL MLLT4 4301 genome.wustl.edu 37 6 168265376 168265376 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040001.1 +1 validated p.R84Q 1.000 308 0% 180 37.8% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_RA,HMMSmart_RA MLLT4 4301 genome.wustl.edu 37 6 168343846 168343846 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040001.1 +1 validated p.S1038* 1.000 760 0% 376 24.5% - - - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ SMOC2 64094 genome.wustl.edu 37 6 168944304 168944304 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022138.2 +1 reviewed e5-1 1.000 446 0% 253 17.8% - - - - - - THBS2 7058 genome.wustl.edu 37 6 169621604 169621604 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003247.2 -1 reviewed p.D1098N 1.000 160 0% 104 28.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_C,superfamily_ConA_like_lec_gl LOC100289471 100289471 genome.wustl.edu 37 6 169648782 169648782 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342681.1 +1 model p.E23K 0.994 102 0% 100 21% - - - - - NULL C6orf70 55780 genome.wustl.edu 37 6 170154083 170154083 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018341.1 +1 validated p.V44I 0.314 241 0% 122 33.6% - - possibly_damaging(0.537) tolerated(0.06) deleterious(0.504) NULL C6orf70 55780 genome.wustl.edu 37 6 170155454 170155454 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018341.1 +1 validated p.S84Y 0.030 489 0% 264 34.1% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL FAM120B 84498 genome.wustl.edu 37 6 170639604 170639604 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032448.1 +1 provisional p.P661 0.959 227 0% 181 39.8% - - - - - NULL LOC100132858 100132858 genome.wustl.edu 37 7 36329 36329 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001715131.2 -1 model p.R17H 0.025 537 0% 373 13.4% - - - - - NULL FAM20C 56975 genome.wustl.edu 37 7 195657 195657 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020223.2 +1 validated p.E237K 1.000 85 0% 50 34% - - possibly_damaging(0.936) tolerated(0.1) deleterious(0.668) NULL SUN1 23353 genome.wustl.edu 37 7 891653 891653 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130965.2 +1 reviewed p.S275Y 1.000 883 0% 553 36.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MRP ADAP1 11033 genome.wustl.edu 37 7 943793 943793 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000453823 -1 known p.V149A 0.168 140 0% 106 41.5% - - - - - HMMSmart_SM00233,superfamily_PH domain-like CYP2W1 54905 genome.wustl.edu 37 7 1024874 1024874 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017781.2 +1 reviewed p.R187Q 1.000 98 0% 66 31.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 INTS1 26173 genome.wustl.edu 37 7 1523706 1523706 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080453.2 -1 validated p.L1121S 1.000 224 0% 124 34.7% - - possibly_damaging(0.874) deleterious(0.01) deleterious(0.745) NULL INTS1 26173 genome.wustl.edu 37 7 1529228 1529228 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080453.2 -1 validated p.I752 0.883 93 1.1% 68 38.2% - - - - - NULL ELFN1 392617 genome.wustl.edu 37 7 1784863 1784863 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128636.2 +1 validated p.A211T 1.000 26 0% 12 50% - - - - - HMMSmart_SM00082,superfamily_L domain-like SNX8 29886 genome.wustl.edu 37 7 2302882 2302882 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013321.1 -1 provisional p.D300N 0.999 75 0% 73 30.1% - - benign(0.323) tolerated(0.12) neutral(0.362) NULL SNX8 29886 genome.wustl.edu 37 7 2311526 2311526 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013321.1 -1 provisional p.E167K 1.000 76 0% 49 44.9% - - benign(0.004) tolerated(0.88) - HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain CARD11 84433 genome.wustl.edu 37 7 2951848 2951848 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032415.3 -1 validated p.F1034 0.931 314 0% 193 20.7% - - - - - superfamily_SSF52540 CARD11 84433 genome.wustl.edu 37 7 2955004 2955004 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032415.3 -1 validated p.F902 0.999 130 0% 123 35% - - - - - NULL RADIL 55698 genome.wustl.edu 37 7 4839040 4839040 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018059.4 -1 validated p.K1066R 0.873 126 0% 104 35.6% - - benign(0) tolerated(0.46) neutral(0.012) superfamily_PDZ domain-like PAPOLB 56903 genome.wustl.edu 37 7 4899668 4899668 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020144.4 -1 validated p.E592K 0.231 223 0% 157 38.9% - - benign(0.002) tolerated(0.63) neutral(0.004) NULL RBAK 57786 genome.wustl.edu 37 7 5104628 5104628 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021163.3 +1 reviewed p.N514S 0.995 82 0% 87 39.1% - - benign(0) tolerated(0.81) neutral(0.001) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers WIPI2 26100 genome.wustl.edu 37 7 5256816 5256816 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015610.3 +1 validated p.L192 0.975 278 0% 193 36.3% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like OCM 654231 genome.wustl.edu 37 7 5923555 5923555 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001097622.1 +1 validated p.E77K 1.000 706 0% 444 33.1% - - possibly_damaging(0.804) tolerated(0.23) neutral(0.344) superfamily_SSF47473 CCZ1 51622 genome.wustl.edu 37 7 5949680 5949680 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015622.5 +1 validated p.Q238P 1.000 324 0% 155 77.4% - - benign(0.021) tolerated(0.3) neutral(0.030) HMMPfam_DUF2049 GRID2IP 392862 genome.wustl.edu 37 7 6549923 6549923 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145118.1 -1 validated p.V588F 0.000 97 0% 84 23.8% - - benign(0.054) tolerated(0.16) neutral(0.063) NULL C7orf26 79034 genome.wustl.edu 37 7 6634125 6634125 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024067.2 +1 predicted p.C158 0.687 410 0% 286 35.3% - - - - - NULL C7orf26 79034 genome.wustl.edu 37 7 6639489 6639489 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024067.2 +1 predicted p.E204* 1.000 318 0% 211 31.8% - - - - - NULL C7orf26 79034 genome.wustl.edu 37 7 6639938 6639938 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000445375 +1 known p.A91T 0.053 45 0% 33 27.3% - - - - - NULL ENSG00000198580 0 genome.wustl.edu 37 7 6715608 6715608 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000328239 +1 known p.R78Q 0.037 64 0% 42 42.9% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF12 7559 genome.wustl.edu 37 7 6730875 6730875 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016265.3 -1 reviewed p.I566M 0.020 219 0% 154 44.8% - - possibly_damaging(0.922) tolerated(0.13) deleterious(0.624) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC100131257 100131257 genome.wustl.edu 37 7 7118599 7118599 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001716696.1 -1 model p.R202I 0.236 111 0% 37 27% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers C1GALT1 56913 genome.wustl.edu 37 7 7278199 7278199 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020156.2 +1 validated p.N178K 0.997 274 0% 146 39% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C1GALT1 56913 genome.wustl.edu 37 7 7283346 7283346 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020156.2 +1 validated p.L360F 0.586 195 0% 82 43.9% - - benign(0.013) tolerated(0.09) neutral(0.297) NULL COL28A1 340267 genome.wustl.edu 37 7 7571090 7571090 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001037763.2 -1 validated p.L190 1.000 202 0% 135 40% - - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like MIOS 54468 genome.wustl.edu 37 7 7612325 7612325 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019005.3 +1 validated p.D73E 1.000 335 0% 266 36.1% - - benign(0.001) tolerated(0.73) neutral(0.002) superfamily_WD40 repeat-like LOC340268 340268 genome.wustl.edu 37 7 9767583 9767583 + RNA SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_041608.1 +1 model NULL 1.000 144 0% 85 32.9% - - - - - - ENSG00000248675 0 genome.wustl.edu 37 7 10491255 10491255 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000510654 -1 known NULL 1.000 193 0% 105 34.3% - - - - - - THSD7A 221981 genome.wustl.edu 37 7 11450835 11450835 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015204.2 -1 validated p.A1266V 1.000 548 0% 295 34.9% - - benign(0.001) tolerated(0.13) neutral(0.253) HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat THSD7A 221981 genome.wustl.edu 37 7 11676180 11676180 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015204.2 -1 validated p.F200C 1.000 149 0% 131 38.2% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat THSD7A 221981 genome.wustl.edu 37 7 11676283 11676283 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015204.2 -1 validated p.D166Y 0.996 284 0% 187 35.8% - - possibly_damaging(0.87) tolerated(0.06) deleterious(0.661) superfamily_TSP-1 type 1 repeat TMEM106B 54664 genome.wustl.edu 37 7 12263935 12263935 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134232.1 +1 validated p.D122G 0.993 842 0% 475 37.5% - - possibly_damaging(0.799) tolerated(0.38) neutral(0.319) HMMPfam_DUF1356 TMEM106B 54664 genome.wustl.edu 37 7 12269343 12269343 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134232.1 +1 validated p.V160 0.996 146 0% 88 39.8% - - - - - HMMPfam_DUF1356 SCIN 85477 genome.wustl.edu 37 7 12662428 12662428 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001112706.2 +1 validated p.V223 0.977 311 0% 155 34.2% - - - - - HMMSmart_SM00262,superfamily_Actin depolymerizing proteins DGKB 1607 genome.wustl.edu 37 7 14188781 14188781 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004080.2 -1 reviewed p.R797M 1.000 572 0% 222 33.8% - - possibly_damaging(0.782) deleterious(0) deleterious(0.738) NULL DGKB 1607 genome.wustl.edu 37 7 14733724 14733724 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004080.2 -1 reviewed p.L229 0.145 245 0% 140 39.3% - - - - - superfamily_EF-hand,superfamily_Cysteine-rich domain AGMO 392636 genome.wustl.edu 37 7 15240944 15240944 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004320.1 -1 provisional p.S435N 0.999 328 0% 117 37.6% - - possibly_damaging(0.475) deleterious(0.02) deleterious(0.539) NULL AGMO 392636 genome.wustl.edu 37 7 15470668 15470668 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004320.1 -1 provisional p.A159S 1.000 386 0% 155 35.5% - - possibly_damaging(0.932) tolerated(0.08) deleterious(0.678) HMMPfam_FA_hydroxylase AHR 196 genome.wustl.edu 37 7 17378960 17378960 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001621.4 +1 validated p.G504E 0.005 106 0% 72 27.8% - - benign(0.245) deleterious(0.03) neutral(0.390) NULL HDAC9 9734 genome.wustl.edu 37 7 18801781 18801781 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178425.2 +1 reviewed p.R682Q 1.000 242 0% 104 41.3% - - probably_damaging(0.988) tolerated(0.34) neutral(0.461) HMMPfam_Hist_deacetyl,superfamily_SSF52768 TWISTNB 221830 genome.wustl.edu 37 7 19737964 19737964 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001002926.1 -1 validated p.R331I 1.000 360 0% 173 29.5% - - benign(0.345) deleterious(0.02) deleterious(0.492) NULL MACC1 346389 genome.wustl.edu 37 7 20197861 20197861 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182762.3 -1 validated p.R708I 0.061 221 0% 136 32.4% - - possibly_damaging(0.819) tolerated(0.06) deleterious(0.632) superfamily_DEATH domain ITGB8 3696 genome.wustl.edu 37 7 20421381 20421381 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002214.2 +1 reviewed p.R278I 1.000 138 0% 83 27.7% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_vWA-like ABCB5 340273 genome.wustl.edu 37 7 20662955 20662955 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000404938 +1 known p.R16I 0.999 191 0% 67 28.4% - - benign(0.003) tolerated(0.1) neutral(0.286) NULL ABCB5 340273 genome.wustl.edu 37 7 20691092 20691092 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178559.5 +1 validated p.R16Q 0.996 498 0.2% 265 34.7% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ABC_tran,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCB5 340273 genome.wustl.edu 37 7 20721180 20721180 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178559.5 +1 validated p.R142Q 0.997 306 0% 159 31.4% - - benign(0.253) tolerated(0.13) neutral(0.279) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH11 8701 genome.wustl.edu 37 7 21640504 21640504 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003777.3 +1 reviewed p.E1071* 0.995 249 0% 129 32.6% - - - - - NULL DNAH11 8701 genome.wustl.edu 37 7 21654764 21654764 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003777.3 +1 reviewed p.E1295D 1.000 397 0% 192 30.7% - - benign(0.197) tolerated(0.13) neutral(0.271) NULL DNAH11 8701 genome.wustl.edu 37 7 21779217 21779217 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003777.3 +1 reviewed p.E2621* 1.000 217 0% 116 40.5% - - - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH11 8701 genome.wustl.edu 37 7 21827115 21827115 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003777.3 +1 reviewed p.E3287K 1.000 248 0% 150 38% - - probably_damaging(0.989) tolerated(0.16) deleterious(0.499) NULL DNAH11 8701 genome.wustl.edu 37 7 21901539 21901539 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000421290 +1 known p.L152I 1.000 138 0% 88 30.7% - - - - - NULL ENSG00000105889 0 genome.wustl.edu 37 7 22533224 22533224 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000441815 -1 known p.F253V 0.997 367 0% 228 46.5% - - probably_damaging(0.954) deleterious(0.02) deleterious(0.780) NULL GPNMB 10457 genome.wustl.edu 37 7 23293000 23293000 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005340.1 +1 reviewed p.S49T 0.868 449 0% 185 41.6% - - benign(0.03) tolerated(0.06) neutral(0.324) NULL IGF2BP3 10643 genome.wustl.edu 37 7 23508153 23508153 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006547.2 -1 reviewed p.E62K 1.000 319 0% 219 37.4% - - probably_damaging(0.999) tolerated(0.18) deleterious(0.546) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD STK31 56164 genome.wustl.edu 37 7 23751758 23751758 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031414.3 +1 reviewed p.D31N 0.998 617 0.2% 320 32.5% - - benign(0) tolerated(1) - HMMPfam_TUDOR STK31 56164 genome.wustl.edu 37 7 23775303 23775303 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031414.3 +1 reviewed p.E210 1.000 265 0% 136 11.8% - - - - - NULL STK31 56164 genome.wustl.edu 37 7 23792352 23792352 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031414.3 +1 reviewed p.A345D 0.806 283 0% 155 38.1% - - benign(0.014) deleterious(0.02) neutral(0.384) NULL STK31 56164 genome.wustl.edu 37 7 23793934 23793934 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031414.3 +1 reviewed p.R378 0.958 318 0% 117 38.5% - - - - - NULL STK31 56164 genome.wustl.edu 37 7 23808783 23808783 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031414.3 +1 reviewed p.R529I 0.000 162 0% 73 34.2% - - benign(0.066) deleterious(0) neutral(0.449) NULL STK31 56164 genome.wustl.edu 37 7 23821115 23821115 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031414.3 +1 reviewed p.E681D 1.000 289 0% 104 19.2% - - benign(0.219) tolerated(0.07) neutral(0.341) NULL MPP6 51678 genome.wustl.edu 37 7 24663312 24663312 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016447.2 +1 provisional p.T9M 0.991 151 0% 74 48.6% - - possibly_damaging(0.938) deleterious(0.05) deleterious(0.729) HMMSmart_SM00569,HMMPfam_L27 MPP6 51678 genome.wustl.edu 37 7 24690292 24690292 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016447.2 +1 provisional p.K204N 0.998 137 0% 73 38.4% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_SH3-domain,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like C7orf31 136895 genome.wustl.edu 37 7 25198145 25198145 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138811.3 -1 validated p.P130S 0.978 253 0% 92 29.3% - - probably_damaging(0.961) tolerated(0.16) neutral(0.464) NULL NFE2L3 9603 genome.wustl.edu 37 7 26224516 26224516 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004289.6 +1 reviewed p.E400* 0.997 169 0% 116 34.5% - - - - - NULL HNRNPA2B1 3181 genome.wustl.edu 37 7 26232994 26232994 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031243.2 -1 reviewed e10-1 1.000 230 0% 114 42.1% - - - - - - SNX10 29887 genome.wustl.edu 37 7 26404214 26404214 + Silent SNP C C T rs192013192 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013322.2 +1 reviewed p.F57 1.000 359 0% 135 34.8% - - - - - HMMPfam_PX,HMMSmart_PX,superfamily_PX SNX10 29887 genome.wustl.edu 37 7 26411445 26411445 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013322.2 +1 reviewed p.L106I 1.000 190 0% 102 43.1% - - probably_damaging(0.978) tolerated(0.06) deleterious(0.743) HMMPfam_PX,HMMSmart_PX,superfamily_PX HOXA4 3201 genome.wustl.edu 37 7 27169151 27169151 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002141.4 -1 reviewed p.R219Q 1.000 198 0% 143 21% - - unknown(0) - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like HOXA7 3204 genome.wustl.edu 37 7 27194663 27194663 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006896.3 -1 reviewed p.K186N 1.000 188 0% 125 36.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 HOXA11 3207 genome.wustl.edu 37 7 27224642 27224642 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005523.5 -1 reviewed p.R41H 1.000 251 0% 129 48.1% - - probably_damaging(0.998) tolerated(0.1) deleterious(0.761) NULL HOXA13 3209 genome.wustl.edu 37 7 27237853 27237853 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000522.4 -1 reviewed p.E377D 1.000 468 0% 355 42% - - possibly_damaging(0.796) tolerated(0.36) neutral(0.319) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 LOC402644 402644 genome.wustl.edu 37 7 28319066 28319066 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001126493.1 -1 predicted p.D85Y 0.999 122 0% 67 29.9% - - - - - HMMPfam_Pro_isomerase,superfamily_CSA_PPIase CHN2 1124 genome.wustl.edu 37 7 29552334 29552334 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004067.2 +1 reviewed p.E464K 1.000 237 0% 112 33.9% - - possibly_damaging(0.772) tolerated(0.14) deleterious(0.536) HMMSmart_SM00324,superfamily_GTPase activation domain GAP FKBP14 55033 genome.wustl.edu 37 7 30058685 30058685 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017946.2 -1 validated p.R135Q 1.000 276 0% 119 35.3% - - benign(0.055) tolerated(0.44) neutral(0.016) superfamily_EF-hand,superfamily_FKBP-like PLEKHA8 84725 genome.wustl.edu 37 7 30094383 30094383 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032639.2 +1 provisional p.N285 0.000 349 0% 147 19.7% - - - - - NULL CCDC129 223075 genome.wustl.edu 37 7 31617627 31617627 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194300.2 +1 validated p.R250Q 0.000 181 0% 71 32.4% - - benign(0.149) deleterious(0.02) neutral(0.396) NULL CCDC129 223075 genome.wustl.edu 37 7 31683147 31683147 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194300.2 +1 validated p.Q721 0.000 166 0% 79 41.8% - - - - - NULL AVL9 23080 genome.wustl.edu 37 7 32593351 32593351 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015060.1 +1 provisional p.R181Q 1.000 438 0% 253 34.4% - - probably_damaging(0.988) tolerated(0.05) deleterious(0.783) HMMPfam_Avl9 KBTBD2 25948 genome.wustl.edu 37 7 32909231 32909231 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015483.2 -1 validated p.S533Y 1.000 259 0% 157 30.6% - - benign(0.293) tolerated(0.05) neutral(0.436) superfamily_Galactose oxidase central domain BBS9 27241 genome.wustl.edu 37 7 33392474 33392474 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198428.2 +1 reviewed p.R514Q 1.000 481 0% 254 37.8% - - benign(0.025) tolerated(0.42) neutral(0.015) NULL BMPER 168667 genome.wustl.edu 37 7 34091518 34091518 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133468.3 +1 validated p.R241Q 1.000 326 0% 170 30.6% - - benign(0.055) tolerated(0.15) neutral(0.244) HMMPfam_VWC,HMMSmart_VWC BMPER 168667 genome.wustl.edu 37 7 34094906 34094906 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133468.3 +1 validated p.K306N 1.000 159 0% 59 39% - - benign(0.287) tolerated(0.47) neutral(0.099) HMMPfam_VWC,HMMSmart_VWC BMPER 168667 genome.wustl.edu 37 7 34192711 34192711 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133468.3 +1 validated p.Q628H 1.000 220 0% 147 29.3% - - benign(0.012) tolerated(0.59) neutral(0.005) superfamily_Cysrich_TIL NPSR1 387129 genome.wustl.edu 37 7 34851430 34851430 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207173.1 +1 reviewed p.D145Y 1.000 419 0% 225 32.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like ENSG00000241521 0 genome.wustl.edu 37 7 35201707 35201707 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000359917 -1 novel NULL 1.000 323 0% 132 28% - - - - - - SEPT7 989 genome.wustl.edu 37 7 35872472 35872472 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001788.4 +1 reviewed p.S44L 1.000 544 0% 206 26.7% - - benign(0.183) deleterious(0) neutral(0.462) superfamily_P-loop containing nucleoside triphosphate hydrolases KIAA0895 23366 genome.wustl.edu 37 7 36396630 36396630 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001100425.1 -1 validated p.E250* 1.000 270 0% 124 29.8% - - - - - NULL ANLN 54443 genome.wustl.edu 37 7 36446098 36446098 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018685.2 +1 validated p.D266N 0.470 309 0% 204 42.6% - - benign(0) tolerated(0.45) neutral(0.012) NULL ELMO1 9844 genome.wustl.edu 37 7 37136232 37136232 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014800.9 -1 reviewed p.G431D 1.000 206 0% 133 39.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ELMO_CED12 GPR141 353345 genome.wustl.edu 37 7 37780229 37780229 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181791.1 +1 provisional p.K78N 0.000 152 0% 131 41.2% - - benign(0.002) tolerated(0.41) neutral(0.015) HMMPfam_7tm_1,superfamily_SSF81321 TXNDC3 51314 genome.wustl.edu 37 7 37890038 37890038 + Splice_Site SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016616.4 +1 reviewed e2+1 1.000 244 0% 130 41.5% - - - - - - TXNDC3 51314 genome.wustl.edu 37 7 37923979 37923979 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016616.4 +1 reviewed p.E357* 0.939 305 0% 162 34% - - - - - HMMSmart_NDK,superfamily_NDK SFRP4 6424 genome.wustl.edu 37 7 37951790 37951790 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003014.3 -1 reviewed p.S241Y 1.000 543 0% 323 32.2% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_TIMP_like,HMMPfam_NTR,HMMSmart_C345C TRGV8 6982 genome.wustl.edu 37 7 38370151 38370151 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000390343 -1 known p.V49 0.001 304 0% 160 36.2% - - - - - HMMPfam_V-set,superfamily_SSF48726 RALA 5898 genome.wustl.edu 37 7 39745816 39745816 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005402.2 +1 reviewed p.R198I 1.000 525 0% 152 31.6% - - benign(0.173) tolerated(0.07) neutral(0.335) HMMSmart_SM00176 CDK13 8621 genome.wustl.edu 37 7 40133990 40133990 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003718.4 +1 reviewed p.R1317I 1.000 319 0% 169 33.1% - - probably_damaging(0.959) tolerated(0.09) deleterious(0.699) NULL C7orf10 79783 genome.wustl.edu 37 7 40228169 40228169 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024728.1 +1 provisional p.R108Q 1.000 208 0% 84 40.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_CoA-Trfase_fam_III GLI3 2737 genome.wustl.edu 37 7 42005498 42005498 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000168.5 -1 reviewed p.R1058Q 0.984 53 0% 22 31.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GLI3 2737 genome.wustl.edu 37 7 42006174 42006174 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000168.5 -1 reviewed p.L833I 0.997 46 0% 12 41.7% - - probably_damaging(0.958) deleterious(0.05) deleterious(0.747) NULL GLI3 2737 genome.wustl.edu 37 7 42017250 42017250 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000168.5 -1 reviewed p.E573D 1.000 644 0% 389 29.6% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_C2H2 and C2HC zinc fingers GLI3 2737 genome.wustl.edu 37 7 42262776 42262776 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000168.5 -1 reviewed p.R26Q 1.000 409 0% 210 31% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL HECW1 23072 genome.wustl.edu 37 7 43447270 43447270 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015052.3 +1 validated p.H247 0.964 172 0% 73 45.2% - - - - - HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB HECW1 23072 genome.wustl.edu 37 7 43547633 43547633 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015052.3 +1 validated p.D1257N 1.000 207 0% 129 17.8% - - possibly_damaging(0.943) tolerated(0.16) neutral(0.447) superfamily_HECT STK17A 9263 genome.wustl.edu 37 7 43663332 43663332 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004760.2 +1 reviewed p.V255 1.000 285 0% 149 28.9% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase URGCP 55665 genome.wustl.edu 37 7 43918074 43918074 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077663.1 -1 validated p.E330* 0.968 116 0% 74 32.4% - - - - - NULL URGCP 55665 genome.wustl.edu 37 7 43927411 43927411 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077663.1 -1 validated p.E7* 1.000 320 0% 158 29.7% - - - - - NULL POLM 27434 genome.wustl.edu 37 7 44118368 44118368 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013284.2 -1 validated p.R229W 0.001 288 0% 187 33.2% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_POLXc,superfamily_DNApol_B_N_like AEBP1 165 genome.wustl.edu 37 7 44150775 44150775 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001129.3 +1 reviewed p.Q551H 1.000 203 0% 156 47.4% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL NPC1L1 29881 genome.wustl.edu 37 7 44561822 44561822 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013389.2 -1 reviewed p.Y886F 1.000 142 0% 107 18.7% - - possibly_damaging(0.924) deleterious(0) deleterious(0.818) HMMPfam_Patched OGDH 4967 genome.wustl.edu 37 7 44733597 44733597 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002541.3 +1 reviewed p.V503 0.997 173 0% 123 43.1% - - - - - HMMPfam_E1_dh,superfamily_SSF52518 H2AFV 94239 genome.wustl.edu 37 7 44875157 44875157 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012412.4 -1 reviewed p.S99Y 1.000 211 0% 120 26.7% - - benign(0.096) deleterious(0) neutral(0.452) HMMSmart_SM00414,superfamily_Histone-fold MYO1G 64005 genome.wustl.edu 37 7 45014795 45014795 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000464434 -1 known p.E202* 1.000 258 0% 154 34.4% - - - - - HMMSmart_SM00242 MYO1G 64005 genome.wustl.edu 37 7 45015099 45015099 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033054.2 -1 validated p.S183I 1.000 314 0% 220 44.5% - - possibly_damaging(0.805) deleterious(0.02) deleterious(0.686) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases CCM2 83605 genome.wustl.edu 37 7 45109432 45109432 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001029835.2 +1 reviewed p.A227V 1.000 196 0% 160 31.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC100287196 100287196 genome.wustl.edu 37 7 45142941 45142941 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342718.1 +1 model p.E7* 1.000 182 0% 114 21.1% - - probably_damaging(0.999) tolerated(0.1) deleterious(0.777) NULL ADCY1 107 genome.wustl.edu 37 7 45717647 45717647 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021116.2 +1 reviewed p.V595 0.000 226 0.4% 135 43.7% - - - - - NULL ADCY1 107 genome.wustl.edu 37 7 45750216 45750216 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021116.2 +1 reviewed p.R1008W 1.000 124 0% 46 19.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,PatternScan_GUANYLATE_CYCLASE_1 PKD1L1 168507 genome.wustl.edu 37 7 47872763 47872763 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138295.2 -1 reviewed p.L2088 0.000 108 0% 83 39.8% - - - - - NULL PKD1L1 168507 genome.wustl.edu 37 7 47892822 47892822 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138295.2 -1 reviewed p.F1621L 0.994 200 0% 81 34.6% - - possibly_damaging(0.94) tolerated(0.07) deleterious(0.704) NULL PKD1L1 168507 genome.wustl.edu 37 7 47937716 47937716 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138295.2 -1 reviewed p.S714P 0.226 208 0% 149 28.9% - - probably_damaging(0.963) tolerated(0.1) deleterious(0.692) NULL SUN3 256979 genome.wustl.edu 37 7 48046873 48046873 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000453071 -1 known p.S47L 0.001 343 0.3% 184 34.2% - - - - - NULL ABCA13 154664 genome.wustl.edu 37 7 48266862 48266862 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152701.3 +1 reviewed p.D158N 0.981 206 0% 116 35.3% - - probably_damaging(0.996) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48318986 48318986 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152701.3 +1 reviewed p.G2732E 0.004 143 0% 51 25.5% - - benign(0.385) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48545931 48545931 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152701.3 +1 reviewed e49-1 1.000 306 0% 129 27.9% - - - - - - ABCA13 154664 genome.wustl.edu 37 7 48556449 48556449 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152701.3 +1 reviewed p.R4590Q 0.054 389 0% 216 36.1% - - probably_damaging(0.994) - - NULL FIGNL1 63979 genome.wustl.edu 37 7 50514794 50514794 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042762.1 -1 validated p.E64D 1.000 208 0% 117 21.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL COBL 23242 genome.wustl.edu 37 7 51287539 51287539 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015198.3 -1 validated p.Q48 0.001 56 0% 31 22.6% - - - - - HMMPfam_Cobl EGFR 1956 genome.wustl.edu 37 7 55211175 55211175 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005228.3 +1 reviewed p.L140V 0.012 269 0% 105 35.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Recep_L_domain,superfamily_L domain-like ZNF713 349075 genome.wustl.edu 37 7 55991328 55991328 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182633.1 +1 provisional p.I68 0.746 255 0% 126 28.6% - - - - - HMMSmart_KRAB,superfamily_Krueppel-associated_box MRPS17 51373 genome.wustl.edu 37 7 56020994 56020994 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015969.2 +1 reviewed p.D36Y 1.000 400 0.3% 226 31.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ribosomal_S17,superfamily_Nucleic_acid_OB LOC441228 441228 genome.wustl.edu 37 7 56357942 56357942 + RNA SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_016387.3 +1 model NULL 1.000 250 0% 121 32.2% - - - - - - LOC441228 441228 genome.wustl.edu 37 7 56359180 56359180 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_016387.3 +1 model NULL 0.000 209 0% 143 32.9% - - - - - - LOC100289196 100289196 genome.wustl.edu 37 7 56671228 56671228 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342722.1 +1 model p.K42N 0.997 99 0% 57 45.6% - - - - - NULL LOC100130849 100130849 genome.wustl.edu 37 7 56945173 56945173 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001719090.1 -1 model p.D81N 1.000 30 0% 26 38.5% - - - - - NULL ZNF679 168417 genome.wustl.edu 37 7 63726894 63726894 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153363.2 +1 validated p.P295S 1.000 123 0% 92 32.6% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_C2H2 and C2HC zinc fingers ZNF736 728927 genome.wustl.edu 37 7 63808751 63808751 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000423484 +1 known p.E170D 0.997 287 0% 149 34.9% - - benign(0.33) deleterious(0.04) neutral(0.452) superfamily_C2H2 and C2HC zinc fingers ZNF680 340252 genome.wustl.edu 37 7 64023306 64023306 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178558.4 -1 validated p.E9D 0.687 377 0% 196 37.8% - - benign(0.047) tolerated(0.35) neutral(0.024) superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF107 51427 genome.wustl.edu 37 7 64167142 64167142 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013746.1 +1 validated p.H154N 0.989 79 0% 53 37.7% - - possibly_damaging(0.895) tolerated(0.06) deleterious(0.675) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF107 51427 genome.wustl.edu 37 7 64167562 64167562 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013746.1 +1 validated p.H294N 0.865 90 0% 48 10.4% - - possibly_damaging(0.783) deleterious(0) deleterious(0.738) HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF138 7697 genome.wustl.edu 37 7 64292202 64292202 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006524.2 +1 validated p.F137L 0.004 144 0% 68 10.3% - - benign(0.083) tolerated(0.11) neutral(0.278) superfamily_SSF57667 ZNF138 7697 genome.wustl.edu 37 7 64292353 64292353 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006524.2 +1 validated p.R188C 0.975 115 0% 72 38.9% - - benign(0) deleterious(0.02) neutral(0.383) superfamily_SSF57667 ZNF92 168374 genome.wustl.edu 37 7 64864361 64864361 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152626.2 +1 validated p.R445I 1.000 79 0% 55 32.7% - - benign(0) tolerated(0.11) neutral(0.272) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GUSB 2990 genome.wustl.edu 37 7 65439612 65439612 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000181.3 -1 reviewed p.R382H 1.000 45 0% 61 24.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_GLYCOSYL_HYDROL_F2_1,HMMPfam_Glyco_hydro_2_C,superfamily_(Trans)glycosidases ASL 435 genome.wustl.edu 37 7 65548108 65548108 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000048.3 +1 reviewed p.T131 0.000 59 0% 53 20.8% - - - - - HMMPfam_Lyase_1,superfamily_L-Aspartase-like TYW1 55253 genome.wustl.edu 37 7 66482898 66482898 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018264.2 +1 validated p.R210Q 1.000 262 0% 198 36.4% - - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMPfam_Flavodoxin_1,superfamily_Flavoproteins TYW1 55253 genome.wustl.edu 37 7 66648215 66648215 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018264.2 +1 validated p.E601K 1.000 178 0% 124 43.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Wyosine_form,superfamily_Radical SAM enzymes LOC442572 442572 genome.wustl.edu 37 7 66744920 66744920 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_499314.5 +1 model p.E92 0.034 121 0% 77 7.8% - - - - - NULL AUTS2 26053 genome.wustl.edu 37 7 69599531 69599531 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015570.2 +1 validated p.P212S 1.000 534 0.2% 267 32.6% - - possibly_damaging(0.771) tolerated(0.17) neutral(0.345) NULL AUTS2 26053 genome.wustl.edu 37 7 70254907 70254907 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015570.2 +1 validated p.K902R 1.000 66 0% 48 16.7% - - possibly_damaging(0.473) deleterious(0.04) deleterious(0.505) NULL WBSCR17 64409 genome.wustl.edu 37 7 70853331 70853331 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022479.1 +1 reviewed p.H178R 1.000 223 0% 159 28.9% - - benign(0.01) tolerated(1) neutral(0.001) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases WBSCR17 64409 genome.wustl.edu 37 7 71036364 71036364 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022479.1 +1 reviewed p.E353* 1.000 515 0% 293 29.7% - - - - - superfamily_Nucleotide-diphospho-sugar transferases WBSCR17 64409 genome.wustl.edu 37 7 71130430 71130430 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022479.1 +1 reviewed p.P372H 1.000 193 0% 107 34.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Nucleotide-diphospho-sugar transferases FZD9 8326 genome.wustl.edu 37 7 72849027 72849027 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003508.2 +1 reviewed p.F230 1.000 66 0% 74 39.2% - - - - - HMMPfam_Frizzled BAZ1B 9031 genome.wustl.edu 37 7 72863916 72863916 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032408.3 -1 validated p.C1228 1.000 169 0% 97 41.2% - - - - - HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD BAZ1B 9031 genome.wustl.edu 37 7 72922770 72922770 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032408.3 -1 validated p.K86E 1.000 271 0% 158 36.7% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_WAC_Acf1_DNA_bd BCL7B 9275 genome.wustl.edu 37 7 72951688 72951688 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001707.2 -1 reviewed p.P183 0.044 65 0% 58 34.5% - - - - - NULL BCL7B 9275 genome.wustl.edu 37 7 72954379 72954379 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001707.2 -1 reviewed p.E90G 0.999 289 0% 201 43.3% - - possibly_damaging(0.888) deleterious(0.01) deleterious(0.753) NULL TBL2 26608 genome.wustl.edu 37 7 72988370 72988370 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012453.2 -1 reviewed p.R115H 1.000 319 0% 211 37% - - possibly_damaging(0.469) tolerated(0.07) deleterious(0.473) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 MLXIPL 51085 genome.wustl.edu 37 7 73011083 73011083 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032951.2 -1 reviewed p.P570S 0.413 74 0% 47 40.4% - - probably_damaging(0.999) tolerated(0.52) deleterious(0.499) NULL WBSCR22 114049 genome.wustl.edu 37 7 73098222 73098222 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000423166 +1 known p.R49I 0.000 44 0% 38 31.6% - - benign(0.004) deleterious(0) neutral(0.445) NULL ELN 2006 genome.wustl.edu 37 7 73449761 73449761 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000416107 +1 known p.T50 0.000 198 0% 129 38% - - - - - NULL GTF2IRD2 84163 genome.wustl.edu 37 7 74211283 74211283 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173537.2 -1 validated p.T856 0.935 390 0% 210 23.3% - - - - - NULL GTF2IRD2B 389524 genome.wustl.edu 37 7 74554793 74554793 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001003795.2 +1 reviewed p.A303S 0.965 774 0% 414 11.8% - - benign(0.064) tolerated(0.58) neutral(0.009) NULL SPDYE5 442590 genome.wustl.edu 37 7 75131017 75131017 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099435.2 +1 validated p.R298W 0.004 583 0% 370 36.8% - - - - - NULL PMS2P3 5387 genome.wustl.edu 37 7 75155276 75155276 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000301956 -1 known p.V86 0.035 159 0% 64 29.7% - - - - - NULL HIP1 3092 genome.wustl.edu 37 7 75192263 75192263 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005338.4 -1 reviewed p.L332 1.000 121 0% 92 29.3% - - - - - NULL STYXL1 51657 genome.wustl.edu 37 7 75657970 75657970 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016086.2 -1 validated p.R52Q 0.025 321 0% 193 25.4% - - benign(0.402) tolerated(0.32) neutral(0.153) HMMSmart_SM00450,superfamily_Rhodanese/Cell cycle control phosphatase SRRM3 222183 genome.wustl.edu 37 7 75915166 75915166 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000408932 +1 known p.R32I 0.814 20 0% 18 27.8% - - - - - NULL YWHAG 7532 genome.wustl.edu 37 7 75959019 75959019 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012479.3 -1 reviewed p.E207K 1.000 305 0% 192 28.1% - - possibly_damaging(0.74) deleterious(0) deleterious(0.716) HMMPfam_14-3-3,HMMSmart_SM00101,superfamily_14-3-3 protein UPK3B 80761 genome.wustl.edu 37 7 76140314 76140314 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030570.2 +1 validated p.F115 0.021 28 0% 23 26.1% - - - - - NULL FGL2 10875 genome.wustl.edu 37 7 76828653 76828653 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006682.2 -1 reviewed p.V153A 0.000 318 0% 167 26.9% - - benign(0.002) tolerated(0.64) neutral(0.003) NULL CCDC146 57639 genome.wustl.edu 37 7 76908289 76908289 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020879.2 +1 validated p.R522Q 0.919 184 0% 98 36.7% - - possibly_damaging(0.645) deleterious(0.02) deleterious(0.609) NULL RSBN1L 222194 genome.wustl.edu 37 7 77365774 77365774 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198467.2 +1 validated p.E212* 0.991 257 0% 103 40.8% - - - - - NULL RSBN1L 222194 genome.wustl.edu 37 7 77365822 77365822 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198467.2 +1 validated p.E228K 1.000 394 0% 142 37.3% - - possibly_damaging(0.798) tolerated(0.25) neutral(0.337) NULL RSBN1L 222194 genome.wustl.edu 37 7 77379139 77379139 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198467.2 +1 validated p.E368K 0.999 200 0% 105 34.3% - - probably_damaging(0.953) deleterious(0.01) deleterious(0.802) NULL MAGI2 9863 genome.wustl.edu 37 7 77824308 77824308 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012301.3 -1 reviewed p.P718S 1.000 603 0% 328 32.9% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL MAGI2 9863 genome.wustl.edu 37 7 77885472 77885472 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012301.3 -1 reviewed p.A612V 1.000 162 0% 116 15.5% - - benign(0.001) deleterious(0.01) neutral(0.406) superfamily_PDZ domain-like GNAT3 346562 genome.wustl.edu 37 7 80103580 80103580 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001102386.1 -1 provisional p.D193N 1.000 272 0% 113 27.4% - - possibly_damaging(0.702) tolerated(0.47) neutral(0.264) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases CD36 948 genome.wustl.edu 37 7 80276172 80276172 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000072.3 +1 reviewed p.K39T 1.000 458 0% 257 34.2% - - benign(0.012) tolerated(0.22) neutral(0.043) HMMPfam_CD36 SEMA3C 10512 genome.wustl.edu 37 7 80380618 80380618 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006379.2 -1 validated p.P560S 1.000 421 0% 197 31% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_PSI,superfamily_Plexin-like_fold CACNA2D1 781 genome.wustl.edu 37 7 81588594 81588594 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000722.2 -1 reviewed p.V1052 0.000 255 0% 129 36.4% - - - - - NULL CACNA2D1 781 genome.wustl.edu 37 7 81643795 81643795 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000722.2 -1 reviewed p.V382L 1.000 257 0% 141 40.4% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 PCLO 27445 genome.wustl.edu 37 7 82579729 82579729 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033026.5 -1 validated p.S3392N 1.000 231 0% 162 43.2% - - probably_damaging(0.978) - - NULL PCLO 27445 genome.wustl.edu 37 7 82581257 82581257 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033026.5 -1 validated p.H3004 0.776 181 0% 108 25.9% - - - - - NULL PCLO 27445 genome.wustl.edu 37 7 82582015 82582015 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033026.5 -1 validated p.M2752L 0.000 254 0% 185 37.8% - - benign(0.022) - - NULL PCLO 27445 genome.wustl.edu 37 7 82582485 82582485 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033026.5 -1 validated p.S2595Y 0.186 215 0% 114 37.7% - - probably_damaging(0.995) - - NULL PCLO 27445 genome.wustl.edu 37 7 82583199 82583199 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033026.5 -1 validated p.S2357* 0.003 101 0% 44 40.9% - - - - - NULL PCLO 27445 genome.wustl.edu 37 7 82583235 82583235 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033026.5 -1 validated p.S2345Y 0.006 100 0% 64 29.7% - - probably_damaging(0.995) - - NULL PCLO 27445 genome.wustl.edu 37 7 82584797 82584797 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033026.5 -1 validated p.K1824N 1.000 636 0% 265 23.8% - - probably_damaging(0.995) - - NULL PCLO 27445 genome.wustl.edu 37 7 82584937 82584937 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033026.5 -1 validated p.E1778* 1.000 159 0% 81 30.9% - - - - - NULL PCLO 27445 genome.wustl.edu 37 7 82585272 82585272 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033026.5 -1 validated p.R1666Q 0.737 339 0% 218 34.4% - - probably_damaging(0.997) - - NULL PCLO 27445 genome.wustl.edu 37 7 82585416 82585416 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033026.5 -1 validated p.S1618I 0.934 601 0% 348 31.9% - - probably_damaging(0.998) - - NULL SEMA3E 9723 genome.wustl.edu 37 7 83029451 83029451 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012431.2 -1 reviewed p.K420T 0.893 700 0% 336 34.5% - - possibly_damaging(0.797) tolerated(0.15) deleterious(0.540) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema GRM3 2913 genome.wustl.edu 37 7 86416119 86416119 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000840.2 +1 reviewed p.F337 1.000 105 0% 67 16.4% - - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I KIAA1324L 222223 genome.wustl.edu 37 7 86509846 86509846 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142749.2 -1 validated p.E1011* 1.000 465 0% 204 44.6% - - - - - NULL KIAA1324L 222223 genome.wustl.edu 37 7 86577209 86577209 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142749.2 -1 validated p.E114* 1.000 208 0% 135 31.1% - - - - - superfamily_Growth factor receptor domain DMTF1 9988 genome.wustl.edu 37 7 86823163 86823163 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000454008 +1 known p.S59L 0.969 142 0% 80 35% - - - - - NULL C7orf23 79161 genome.wustl.edu 37 7 86826042 86826042 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024315.2 -1 provisional p.P89 0.656 230 0% 114 27.2% - - - - - NULL ABCB4 5244 genome.wustl.edu 37 7 87051441 87051441 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018849.2 -1 reviewed p.L771R 1.000 146 0% 74 36.5% - - possibly_damaging(0.809) deleterious(0) deleterious(0.749) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB4 5244 genome.wustl.edu 37 7 87076456 87076456 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018849.2 -1 reviewed p.S300Y 1.000 557 0% 320 16.9% - - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB4 5244 genome.wustl.edu 37 7 87092220 87092220 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018849.2 -1 reviewed p.R47Q 1.000 165 0% 51 31.4% - - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB4 5244 genome.wustl.edu 37 7 87092221 87092221 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018849.2 -1 reviewed p.R47* 1.000 165 0% 51 35.3% - - - - - superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB1 5243 genome.wustl.edu 37 7 87179241 87179241 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000927.3 -1 reviewed p.N494H 0.158 357 0% 251 36.3% - - benign(0.015) deleterious(0.02) neutral(0.384) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCB1 5243 genome.wustl.edu 37 7 87190589 87190589 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000927.3 -1 reviewed p.E273* 1.000 244 0% 121 33.9% - - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB1 5243 genome.wustl.edu 37 7 87190704 87190704 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000927.3 -1 reviewed e7-1 1.000 182 0% 87 27.6% - - - - - - ABCB1 5243 genome.wustl.edu 37 7 87199525 87199525 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000927.3 -1 reviewed p.T101A 0.000 337 0% 160 28.7% - - benign(0) tolerated(0.45) neutral(0.012) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain RUNDC3B 154661 genome.wustl.edu 37 7 87407141 87407141 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138290.2 +1 validated p.R293* 1.000 168 0% 80 32.5% - - - - - NULL DBF4 10926 genome.wustl.edu 37 7 87529589 87529589 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006716.3 +1 validated p.S245Y 0.634 313 0% 106 33% - - possibly_damaging(0.848) tolerated(0.9) neutral(0.326) NULL DBF4 10926 genome.wustl.edu 37 7 87536595 87536595 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006716.3 +1 validated p.S381Y 0.643 127 0% 44 22.7% - - possibly_damaging(0.843) tolerated(0.58) neutral(0.328) NULL ADAM22 53616 genome.wustl.edu 37 7 87774796 87774796 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021723.2 +1 reviewed p.D487N 1.000 163 0% 81 33.3% - - benign(0.026) tolerated(0.35) neutral(0.022) HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1 ADAM22 53616 genome.wustl.edu 37 7 87808310 87808310 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000413139 +1 known p.H87Y 1.000 414 0% 147 36.1% - - - - - NULL STEAP4 79689 genome.wustl.edu 37 7 87910240 87910240 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024636.2 -1 validated p.R380L 1.000 262 0% 126 34.9% - - probably_damaging(0.995) tolerated(0.68) neutral(0.460) HMMPfam_Ferric_reduct ZNF804B 219578 genome.wustl.edu 37 7 88964173 88964173 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181646.2 +1 provisional p.S626Y 0.072 180 0% 107 39.3% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL ZNF804B 219578 genome.wustl.edu 37 7 88965185 88965185 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181646.2 +1 provisional p.C963 0.001 173 0% 64 31.2% - - - - - NULL ZNF804B 219578 genome.wustl.edu 37 7 88965970 88965970 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181646.2 +1 provisional p.S1225Y 1.000 306 0% 153 39.2% - - possibly_damaging(0.8) tolerated(0.05) deleterious(0.646) NULL STEAP2 261729 genome.wustl.edu 37 7 89854538 89854538 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040665.1 +1 reviewed p.R48* 0.998 584 0% 253 34.4% - - - - - HMMPfam_F420_oxidored,superfamily_NAD(P)-binding Rossmann-fold domains CDK14 5218 genome.wustl.edu 37 7 90741908 90741908 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012395.2 +1 validated p.C384 1.000 106 0% 48 29.2% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase AKAP9 10142 genome.wustl.edu 37 7 91631005 91631005 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005751.4 +1 reviewed p.E592* 1.000 100 0% 45 24.4% - - - - - NULL AKAP9 10142 genome.wustl.edu 37 7 91632395 91632395 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005751.4 +1 reviewed p.S1055Y 0.010 135 0.7% 56 32.1% - - possibly_damaging(0.509) deleterious(0.01) deleterious(0.576) NULL AKAP9 10142 genome.wustl.edu 37 7 91709328 91709328 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005751.4 +1 reviewed p.E2627 0.967 96 0% 39 23.1% - - - - - NULL AKAP9 10142 genome.wustl.edu 37 7 91712715 91712715 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005751.4 +1 reviewed p.L2798I 0.124 155 0% 86 39.5% - - probably_damaging(0.978) deleterious(0.03) deleterious(0.785) NULL CYP51A1 1595 genome.wustl.edu 37 7 91761114 91761114 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000786.3 -1 reviewed p.E89K 1.000 117 0% 34 35.3% - - benign(0.223) tolerated(1) neutral(0.022) HMMPfam_p450,superfamily_Cytochrome P450 ENSG00000240720 0 genome.wustl.edu 37 7 91793733 91793733 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000430130 -1 known p.L262V 1.000 56 0% 28 60.7% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_L domain-like ENSG00000240720 0 genome.wustl.edu 37 7 91794393 91794393 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000430130 -1 known p.E42K 0.017 181 0% 98 37.8% - - benign(0.001) deleterious(0) neutral(0.445) NULL KRIT1 889 genome.wustl.edu 37 7 91843226 91843226 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004912.3 -1 reviewed p.R600C 0.982 620 0% 288 35.1% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 KRIT1 889 genome.wustl.edu 37 7 91863867 91863867 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004912.3 -1 reviewed p.S295 1.000 123 0% 67 38.8% - - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat PEX1 5189 genome.wustl.edu 37 7 92116851 92116851 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000466.2 -1 reviewed p.E1258* 1.000 204 0% 72 41.7% - - - - - NULL PEX1 5189 genome.wustl.edu 37 7 92147281 92147281 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000466.2 -1 reviewed p.R183Q 0.441 193 0% 126 38.1% - - benign(0) tolerated(0.98) - NULL RBM48 84060 genome.wustl.edu 37 7 92158876 92158876 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032120.2 +1 validated p.F66 1.000 362 0% 146 28.1% - - - - - superfamily_RNA-binding domain RBD CDK6 1021 genome.wustl.edu 37 7 92354985 92354985 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145306.1 -1 reviewed p.F164 0.999 351 0% 160 34.4% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SAMD9 54809 genome.wustl.edu 37 7 92731114 92731114 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017654.2 -1 validated p.F1433V 1.000 231 0% 108 40.7% - - possibly_damaging(0.915) deleterious(0.01) deleterious(0.772) NULL SAMD9 54809 genome.wustl.edu 37 7 92731780 92731780 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017654.2 -1 validated p.L1211I 0.978 248 0% 134 33.6% - - possibly_damaging(0.892) deleterious(0) deleterious(0.796) NULL SAMD9 54809 genome.wustl.edu 37 7 92732450 92732450 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017654.2 -1 validated p.L987F 0.996 296 0% 207 22.7% - - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) NULL SAMD9 54809 genome.wustl.edu 37 7 92733240 92733240 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017654.2 -1 validated p.S724Y 0.001 539 0% 294 34.4% - - probably_damaging(0.981) deleterious(0.03) deleterious(0.790) NULL SAMD9 54809 genome.wustl.edu 37 7 92733543 92733543 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017654.2 -1 validated p.S623Y 0.998 289 0% 142 38% - - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL SAMD9 54809 genome.wustl.edu 37 7 92733974 92733974 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017654.2 -1 validated p.T479 0.830 157 0% 88 40.9% - - - - - NULL SAMD9L 219285 genome.wustl.edu 37 7 92761560 92761560 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152703.2 -1 validated p.P1242H 0.008 196 0% 100 36% - - benign(0.293) deleterious(0.01) deleterious(0.496) NULL SAMD9L 219285 genome.wustl.edu 37 7 92762075 92762075 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152703.2 -1 validated p.V1070 0.995 201 0% 134 35.8% - - - - - NULL COL1A2 1278 genome.wustl.edu 37 7 94043216 94043216 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000089.3 +1 reviewed p.G541V 1.000 332 0.3% 184 34.8% - - unknown(0) deleterious(0) - HMMPfam_Collagen COL1A2 1278 genome.wustl.edu 37 7 94058739 94058739 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000089.3 +1 reviewed p.C1317 1.000 175 0% 85 32.9% - - - - - HMMPfam_COLFI,HMMSmart_SM00038 CASD1 64921 genome.wustl.edu 37 7 94162545 94162545 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022900.4 +1 validated p.V163A 1.000 222 0% 123 20.3% - - benign(0.134) deleterious(0.01) neutral(0.417) NULL SGCE 8910 genome.wustl.edu 37 7 94285366 94285366 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099401.1 -1 reviewed p.W15C 1.000 41 0% 23 39.1% - - possibly_damaging(0.649) deleterious(0) deleterious(0.672) NULL PEG10 23089 genome.wustl.edu 37 7 94293045 94293045 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040152.1 +1 reviewed p.I59 0.055 117 0% 76 28.9% - - - - - NULL PPP1R9A 55607 genome.wustl.edu 37 7 94539735 94539735 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017650.2 +1 validated p.E104* 1.000 158 0% 68 41.2% - - - - - NULL PPP1R9A 55607 genome.wustl.edu 37 7 94540006 94540006 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017650.2 +1 validated p.R194Q 1.000 171 0% 111 41.4% - - unknown(0) tolerated(0.07) - NULL PPP1R9A 55607 genome.wustl.edu 37 7 94540569 94540569 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017650.2 +1 validated p.E382* 0.979 200 0% 114 25.4% - - - - - NULL PPP1R9A 55607 genome.wustl.edu 37 7 94740608 94740608 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017650.2 +1 validated p.R478I 1.000 249 0% 107 46.7% - - possibly_damaging(0.941) deleterious(0) deleterious(0.831) NULL PPP1R9A 55607 genome.wustl.edu 37 7 94913494 94913494 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000433360 +1 known p.P1154L 1.000 339 0% 166 38.6% - - possibly_damaging(0.844) tolerated(0.09) deleterious(0.620) NULL PPP1R9A 55607 genome.wustl.edu 37 7 94913593 94913593 + Missense_Mutation SNP T T G rs187784191 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000433360 +1 known p.F1187C 0.875 569 0% 272 34.2% - - possibly_damaging(0.547) tolerated(0.16) neutral(0.245) NULL PON1 5444 genome.wustl.edu 37 7 94928407 94928407 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000446.5 -1 reviewed p.R306Q 0.462 115 0% 74 13.5% - - possibly_damaging(0.716) tolerated(0.1) deleterious(0.545) superfamily_Calcium-dependent phosphotriesterase ASB4 51666 genome.wustl.edu 37 7 95125241 95125241 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016116.1 +1 reviewed p.V120A 0.313 316 0% 212 34% - - benign(0) tolerated(0.8) neutral(0.001) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ASB4 51666 genome.wustl.edu 37 7 95157466 95157466 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016116.1 +1 reviewed p.E277K 0.994 93 1.1% 55 20% - - possibly_damaging(0.647) tolerated(0.82) neutral(0.228) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat PDK4 5166 genome.wustl.edu 37 7 95222231 95222231 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002612.3 -1 reviewed p.R124* 1.000 380 0% 219 38.4% - - - - - HMMPfam_BCDHK_Adom3,superfamily_alpha-ketoacid dehydrogenase kinase N-terminal domain DYNC1I1 1780 genome.wustl.edu 37 7 95662061 95662061 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004411.4 +1 validated p.S417F 1.000 520 0% 325 37.8% - - possibly_damaging(0.9) deleterious(0) deleterious(0.801) HMMSmart_SM00320,superfamily_WD40 repeat-like SLC25A13 10165 genome.wustl.edu 37 7 95814274 95814274 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014251.2 -1 reviewed p.S328L 1.000 268 0% 102 39.2% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) superfamily_Mitoch_carrier,HMMPfam_Mito_carr DLX6 1750 genome.wustl.edu 37 7 96637108 96637108 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005222.3 +1 reviewed p.E171K 1.000 160 0% 70 42.9% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like ASNS 440 genome.wustl.edu 37 7 97493580 97493580 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001673.4 -1 reviewed p.E160* 1.000 178 0% 77 36.4% - - - - - HMMPfam_GATase_2,superfamily_SSF56235 LMTK2 22853 genome.wustl.edu 37 7 97766633 97766633 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014916.3 +1 reviewed p.A37V 0.009 212 0% 69 30.4% - - possibly_damaging(0.85) tolerated(0.25) neutral(0.364) NULL LMTK2 22853 genome.wustl.edu 37 7 97822385 97822385 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014916.3 +1 reviewed p.L870I 0.002 64 0% 40 25% - - benign(0.074) tolerated(0.32) neutral(0.029) NULL LMTK2 22853 genome.wustl.edu 37 7 97823422 97823422 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014916.3 +1 reviewed p.F1215 0.000 81 1.2% 62 41.9% - - - - - NULL BAIAP2L1 55971 genome.wustl.edu 37 7 97946560 97946560 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018842.4 -1 reviewed p.A153T 0.995 778 0% 377 35.3% - - benign(0.074) tolerated(0.07) neutral(0.324) HMMPfam_IMD NPTX2 4885 genome.wustl.edu 37 7 98254427 98254427 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002523.2 +1 reviewed p.I279 0.798 33 0% 33 42.4% - - - - - HMMPfam_Pentaxin,HMMSmart_SM00159,superfamily_Concanavalin A-like lectins/glucanases TRRAP 8295 genome.wustl.edu 37 7 98478861 98478861 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003496.2 +1 validated p.D30N 1.000 132 0% 76 34.2% - - unknown(0) deleterious(0) - NULL TRRAP 8295 genome.wustl.edu 37 7 98547728 98547728 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003496.2 +1 validated p.R1701Q 1.000 238 0% 134 36.6% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) superfamily_ARM repeat TRRAP 8295 genome.wustl.edu 37 7 98609051 98609051 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003496.2 +1 validated p.R3701* 1.000 151 0% 72 38.9% - - - - - HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat KPNA7 402569 genome.wustl.edu 37 7 98792823 98792823 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145715.1 -1 validated p.I141 0.882 169 0% 79 46.8% - - - - - HMMPfam_Arm,HMMSmart_ARM,superfamily_ARM-type_fold PTCD1 26024 genome.wustl.edu 37 7 99027294 99027294 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015545.2 -1 validated p.E244K 0.999 213 0% 141 25.5% - - benign(0.004) tolerated(0.24) neutral(0.037) NULL ZNF789 285989 genome.wustl.edu 37 7 99084142 99084142 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_213603.2 +1 validated p.Q103H 0.205 152 0% 79 36.7% - - possibly_damaging(0.745) tolerated(0.08) deleterious(0.574) NULL ZKSCAN5 23660 genome.wustl.edu 37 7 99129309 99129309 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014569.3 +1 reviewed p.R653* 0.997 236 0% 136 21.3% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZKSCAN5 23660 genome.wustl.edu 37 7 99129834 99129834 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014569.3 +1 reviewed p.P828S 0.000 176 0% 81 39.5% - - benign(0) deleterious(0) neutral(0.445) superfamily_C2H2 and C2HC zinc fingers FAM200A 221786 genome.wustl.edu 37 7 99144807 99144807 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145111.2 -1 validated p.E408D 0.891 51 0% 24 41.7% - - probably_damaging(0.999) tolerated(0.35) deleterious(0.511) NULL CYP3A5 1577 genome.wustl.edu 37 7 99250280 99250280 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000777.2 -1 reviewed p.I383 0.904 414 0% 234 36.3% - - - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP3A4 1576 genome.wustl.edu 37 7 99359681 99359681 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017460.3 -1 reviewed p.E412D 0.918 517 0% 296 36.1% - - benign(0) tolerated(0.13) neutral(0.253) HMMPfam_p450,superfamily_Cytochrome P450 TRIM4 89122 genome.wustl.edu 37 7 99516655 99516655 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033017.2 -1 reviewed p.D124N 0.396 19 0% 12 33.3% - - probably_damaging(0.969) deleterious(0.01) deleterious(0.817) NULL C7orf59 389541 genome.wustl.edu 37 7 99751490 99751490 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008395.2 +1 validated p.V68G 1.000 149 0% 82 40.2% - - benign(0.013) deleterious(0) neutral(0.445) NULL C7orf43 55262 genome.wustl.edu 37 7 99752900 99752900 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018275.3 -1 predicted p.R525Q 1.000 128 0% 60 40% - - possibly_damaging(0.793) tolerated(0.06) deleterious(0.621) NULL ZCWPW1 55063 genome.wustl.edu 37 7 100004384 100004384 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017984.3 -1 validated p.S368Y 1.000 216 0% 139 33.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PWWP,HMMSmart_SM00293,superfamily_Tudor/PWWP/MBT ZCWPW1 55063 genome.wustl.edu 37 7 100004910 100004910 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017984.3 -1 validated p.E336* 1.000 211 0% 109 37.6% - - - - - HMMPfam_PWWP,HMMSmart_SM00293,superfamily_Tudor/PWWP/MBT MEPCE 56257 genome.wustl.edu 37 7 100030674 100030674 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019606.4 +1 provisional p.R602W 0.087 57 0% 51 29.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Bin3,superfamily_SSF53335 C7orf61 402573 genome.wustl.edu 37 7 100061192 100061192 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004323.1 -1 predicted p.E61K 0.001 120 0% 78 34.6% - - probably_damaging(0.981) tolerated(0.32) neutral(0.450) NULL TSC22D4 81628 genome.wustl.edu 37 7 100071934 100071934 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030935.3 -1 provisional p.L298 0.995 291 0% 128 14.8% - - - - - NULL LRCH4 4034 genome.wustl.edu 37 7 100179403 100179403 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002319.3 -1 reviewed p.E199K 1.000 185 0% 127 41.7% - - benign(0.014) tolerated(0.07) neutral(0.320) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 LRCH4 4034 genome.wustl.edu 37 7 100179671 100179671 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002319.3 -1 reviewed p.R162Q 0.977 148 0% 79 20.3% - - probably_damaging(0.997) tolerated(0.26) deleterious(0.500) HMMPfam_LRR_1,superfamily_SSF52058 FBXO24 26261 genome.wustl.edu 37 7 100187668 100187668 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033506.2 +1 reviewed p.P36 0.788 107 0% 47 36.2% - - - - - superfamily_F-box domain FBXO24 26261 genome.wustl.edu 37 7 100197772 100197772 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033506.2 +1 reviewed p.R442H 1.000 33 0% 42 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_RCC1/BLIP-II TFR2 7036 genome.wustl.edu 37 7 100225436 100225436 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003227.3 -1 reviewed p.S538Y 0.305 193 0% 99 32.3% - - benign(0.01) tolerated(0.24) neutral(0.038) HMMPfam_Peptidase_M28,superfamily_Zn-dependent exopeptidases ZAN 7455 genome.wustl.edu 37 7 100348354 100348354 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003386.1 +1 reviewed p.F452 0.001 93 1.1% 60 38.3% - - - - - HMMPfam_MAM,HMMSmart_SM00137,PatternScan_MAM_1 ZAN 7455 genome.wustl.edu 37 7 100349824 100349824 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003386.1 +1 reviewed p.S699Y 0.001 932 0% 492 38% - - unknown(0) - - NULL ZAN 7455 genome.wustl.edu 37 7 100349892 100349892 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003386.1 +1 reviewed p.E722* 0.001 745 0.1% 360 26.4% - - - - - NULL ZAN 7455 genome.wustl.edu 37 7 100350713 100350713 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003386.1 +1 reviewed p.E995D 0.000 983 0% 566 39.4% - - probably_damaging(0.962) - - NULL ZAN 7455 genome.wustl.edu 37 7 100358100 100358100 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003386.1 +1 reviewed p.T1261 0.002 544 0% 316 35.1% - - - - - HMMPfam_VWD,HMMSmart_SM00216 ZAN 7455 genome.wustl.edu 37 7 100365543 100365543 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003386.1 +1 reviewed p.T1650 0.451 174 0% 148 35.8% - - - - - HMMPfam_VWD,HMMSmart_SM00216 EPHB4 2050 genome.wustl.edu 37 7 100410814 100410814 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004444.4 -1 reviewed p.I591 1.000 277 0% 176 39.8% - - - - - superfamily_Protein kinase-like (PK-like) SRRT 51593 genome.wustl.edu 37 7 100484426 100484426 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015908.5 +1 validated p.S553L 0.997 145 0% 65 36.9% - - benign(0.156) deleterious(0) neutral(0.459) NULL LOC100127899 100127899 genome.wustl.edu 37 7 100490900 100490900 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001718072.2 +1 model p.V101M 0.659 55 0% 33 45.5% - - - - - NULL MUC12 10071 genome.wustl.edu 37 7 100633889 100633889 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000379442 +1 known p.F158L 0.066 105 0% 58 31% - - unknown(0) - - NULL MUC12 10071 genome.wustl.edu 37 7 100648579 100648579 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000379442 +1 known p.S5055L 0.000 595 0% 298 36.6% - - benign(0.29) - - NULL MUC17 140453 genome.wustl.edu 37 7 100676050 100676050 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040105.1 +1 provisional p.S451R 0.006 648 0% 324 34.3% - - unknown(0) - - NULL MUC17 140453 genome.wustl.edu 37 7 100676139 100676139 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040105.1 +1 provisional p.T481N 0.014 641 0% 371 31% - - unknown(0) - - NULL MUC17 140453 genome.wustl.edu 37 7 100676331 100676331 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040105.1 +1 provisional p.S545Y 0.002 683 0% 371 38.5% - - unknown(0) - - NULL MUC17 140453 genome.wustl.edu 37 7 100677216 100677216 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040105.1 +1 provisional p.S840Y 0.003 702 0.3% 374 37.7% - - unknown(0) - - NULL MUC17 140453 genome.wustl.edu 37 7 100678316 100678316 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040105.1 +1 provisional p.T1207A 0.000 945 0% 470 18.5% - - unknown(0) - - NULL MUC17 140453 genome.wustl.edu 37 7 100679343 100679343 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040105.1 +1 provisional p.S1549Y 0.001 635 0% 379 34.3% - - unknown(0) - - NULL MUC17 140453 genome.wustl.edu 37 7 100681401 100681401 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040105.1 +1 provisional p.S2235Y 0.009 633 0% 355 11.5% - - unknown(0) - - NULL MUC17 140453 genome.wustl.edu 37 7 100684113 100684113 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040105.1 +1 provisional p.S3139Y 0.017 562 0% 358 36.6% - - probably_damaging(0.999) - - NULL MUC17 140453 genome.wustl.edu 37 7 100684464 100684464 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040105.1 +1 provisional p.S3256F 0.024 629 0% 419 35.3% - - probably_damaging(0.976) - - NULL MUC17 140453 genome.wustl.edu 37 7 100685280 100685280 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040105.1 +1 provisional p.P3528L 0.000 468 0% 237 23.6% - - benign(0.183) - - NULL MUC17 140453 genome.wustl.edu 37 7 100686138 100686138 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040105.1 +1 provisional p.T3814N 0.002 266 0% 164 31.7% - - probably_damaging(0.969) - - NULL MUC17 140453 genome.wustl.edu 37 7 100701322 100701322 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040105.1 +1 provisional p.F4493L 0.013 285 0% 151 33.8% - - unknown(0) - - NULL MOGAT3 346606 genome.wustl.edu 37 7 100841616 100841616 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178176.2 -1 provisional p.D175A 0.478 43 2.3% 38 31.6% - - probably_damaging(0.968) tolerated(0.55) neutral(0.417) HMMPfam_DAGAT PLOD3 8985 genome.wustl.edu 37 7 100855179 100855179 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001084.4 -1 reviewed p.D394N 0.966 53 0% 52 36.5% - - benign(0.17) tolerated(0.1) neutral(0.302) NULL CUX1 1523 genome.wustl.edu 37 7 101758501 101758501 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181552.2 +1 reviewed p.R208* 1.000 252 0% 121 34.7% - - - - - NULL CUX1 1523 genome.wustl.edu 37 7 101801847 101801847 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181552.2 +1 reviewed p.E228K 1.000 191 0% 100 35% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL NAPEPLD 222236 genome.wustl.edu 37 7 102768997 102768997 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001122838.1 -1 validated p.S76Y 0.705 314 0.3% 159 28.9% - - possibly_damaging(0.882) deleterious(0.01) deleterious(0.750) NULL NAPEPLD 222236 genome.wustl.edu 37 7 102769237 102769237 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000455523 -1 known p.S69Y 0.283 119 0% 80 30% - - unknown(0) deleterious(0.05) - NULL PMPCB 9512 genome.wustl.edu 37 7 102940676 102940676 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004279.2 +1 reviewed p.G127S 1.000 316 0% 153 39.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Metalloenz_metal-bd,HMMPfam_Peptidase_M16 DNAJC2 27000 genome.wustl.edu 37 7 102962393 102962393 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014377.1 -1 reviewed p.R357* 1.000 818 0% 372 34.9% - - - - - NULL RELN 5649 genome.wustl.edu 37 7 103194233 103194233 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005045.3 -1 reviewed p.G1948E 1.000 553 0% 291 24.4% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL RELN 5649 genome.wustl.edu 37 7 103276011 103276011 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005045.3 -1 reviewed p.L776 0.983 184 0% 108 46.3% - - - - - NULL RELN 5649 genome.wustl.edu 37 7 103293081 103293081 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005045.3 -1 reviewed p.V560 1.000 267 0.4% 151 35.1% - - - - - NULL MLL5 55904 genome.wustl.edu 37 7 104746105 104746105 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018682.3 +1 reviewed p.E806* 1.000 229 0.4% 111 33.3% - - - - - NULL MLL5 55904 genome.wustl.edu 37 7 104747985 104747985 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018682.3 +1 reviewed p.L1027 0.933 211 0% 101 33.7% - - - - - NULL MLL5 55904 genome.wustl.edu 37 7 104752365 104752365 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018682.3 +1 reviewed p.E1388K 0.999 242 0% 155 11% - - possibly_damaging(0.8) deleterious(0) deleterious(0.746) NULL MLL5 55904 genome.wustl.edu 37 7 104753711 104753711 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018682.3 +1 reviewed p.Q1836H 1.000 183 0% 99 23.2% - - possibly_damaging(0.677) deleterious(0) deleterious(0.685) NULL PUS7 54517 genome.wustl.edu 37 7 105146713 105146713 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019042.3 -1 validated p.D136N 1.000 197 0% 95 32.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PsdUridine_synth_cat_dom ATXN7L1 222255 genome.wustl.edu 37 7 105254975 105254975 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020725.1 -1 validated p.S602 0.853 639 0.2% 471 41% - - - - - NULL CDHR3 222256 genome.wustl.edu 37 7 105641911 105641911 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000496633 +1 known p.R140Q 0.001 206 0% 158 34.2% - - benign(0.007) tolerated(0.32) neutral(0.024) NULL PIK3CG 5294 genome.wustl.edu 37 7 106509047 106509047 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002649.2 +1 reviewed p.E347D 0.912 49 0% 54 24.1% - - benign(0.157) tolerated(0.64) neutral(0.017) NULL PIK3CG 5294 genome.wustl.edu 37 7 106545662 106545662 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002649.2 +1 reviewed p.D1047Y 1.000 321 0.3% 141 24.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) PIK3CG 5294 genome.wustl.edu 37 7 106545758 106545758 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002649.2 +1 reviewed p.G1079* 1.000 279 0% 147 35.4% - - - - - HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) PRKAR2B 5577 genome.wustl.edu 37 7 106710740 106710740 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002736.2 +1 reviewed p.R108* 1.000 293 0% 112 33% - - - - - superfamily_cNMP_binding PRKAR2B 5577 genome.wustl.edu 37 7 106768681 106768681 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002736.2 +1 reviewed p.Q141* 1.000 362 0% 198 34.3% - - - - - superfamily_cNMP_binding BCAP29 55973 genome.wustl.edu 37 7 107253834 107253834 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008405.2 +1 validated p.S216L 0.993 251 0.4% 107 32.7% - - benign(0.001) tolerated(0.12) neutral(0.261) HMMPfam_Bap31 SLC26A4 5172 genome.wustl.edu 37 7 107353047 107353047 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000441.1 +1 reviewed p.E767* 1.000 371 0% 196 35.2% - - - - - NULL SLC26A3 1811 genome.wustl.edu 37 7 107430109 107430109 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000111.2 -1 reviewed p.G199R 1.000 126 0% 38 13.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfate_transp DLD 1738 genome.wustl.edu 37 7 107543968 107543968 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000108.3 +1 reviewed p.D105Y 1.000 506 0% 249 26.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pyr_redox_2,superfamily_SSF51905 LAMB1 3912 genome.wustl.edu 37 7 107569598 107569598 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002291.2 -1 reviewed p.E1600K 0.997 630 0% 334 37.4% - - possibly_damaging(0.49) deleterious(0.03) deleterious(0.527) superfamily_Prefoldin LAMB1 3912 genome.wustl.edu 37 7 107593977 107593977 + Missense_Mutation SNP C C T rs193010498 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002291.2 -1 reviewed p.R1026Q 0.991 195 0% 126 38.1% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_EGF/Laminin LAMB4 22798 genome.wustl.edu 37 7 107689877 107689877 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007356.2 -1 validated p.R1339M 0.093 635 0% 297 35% - - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL LAMB4 22798 genome.wustl.edu 37 7 107756514 107756514 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007356.2 -1 validated p.L43I 1.000 116 0% 61 34.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Laminin_N,HMMSmart_SM00136 THAP5 168451 genome.wustl.edu 37 7 108206293 108206293 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130475.1 -1 validated p.S85Y 1.000 411 0.2% 214 36.4% - - possibly_damaging(0.901) deleterious(0) deleterious(0.801) HMMPfam_THAP,HMMSmart_SM00692 DNAJB9 4189 genome.wustl.edu 37 7 108213426 108213426 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012328.1 +1 provisional p.R101 0.998 250 0% 134 33.6% - - - - - superfamily_Chaperone J-domain LRRN3 54674 genome.wustl.edu 37 7 110763330 110763330 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099658.1 +1 validated p.R168* 1.000 158 0% 73 41.1% - - - - - HMMSmart_SM00369,superfamily_L domain-like DOCK4 9732 genome.wustl.edu 37 7 111535738 111535738 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014705.3 -1 reviewed p.S506Y 1.000 347 0% 131 41.2% - - possibly_damaging(0.87) deleterious(0) deleterious(0.782) NULL DOCK4 9732 genome.wustl.edu 37 7 111580191 111580191 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000445943 -1 known p.R305K 1.000 270 0% 228 36.8% - - - - - NULL DOCK4 9732 genome.wustl.edu 37 7 111584871 111584871 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014705.3 -1 reviewed p.R280Q 1.000 471 0% 226 15.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZNF277 11179 genome.wustl.edu 37 7 111980968 111980968 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021994.2 +1 validated p.R351W 1.000 233 0% 116 69.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL IFRD1 3475 genome.wustl.edu 37 7 112096972 112096972 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001007245.1 +1 validated p.A96 0.360 287 0% 133 36.1% - - - - - HMMPfam_IFRD,superfamily_ARM repeat C7orf53 286006 genome.wustl.edu 37 7 112127096 112127096 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134468.1 +1 validated p.I82M 0.582 492 0% 258 38.4% - - benign(0.418) deleterious(0) deleterious(0.580) NULL TMEM168 64418 genome.wustl.edu 37 7 112412926 112412926 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022484.4 -1 validated p.E486K 1.000 237 0% 112 42.9% - - possibly_damaging(0.594) deleterious(0.04) deleterious(0.554) NULL GPR85 54329 genome.wustl.edu 37 7 112724393 112724393 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018970.6 -1 validated p.F128L 1.000 135 0% 67 29.9% - - possibly_damaging(0.729) tolerated(0.17) neutral(0.325) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PPP1R3A 5506 genome.wustl.edu 37 7 113520138 113520138 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002711.3 -1 reviewed p.D337Y 1.000 455 0% 187 31.6% - - benign(0.099) tolerated(0.13) neutral(0.260) NULL FOXP2 93986 genome.wustl.edu 37 7 114066688 114066688 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_148898.2 +1 reviewed p.S41N 1.000 149 0% 80 45% - - probably_damaging(0.978) tolerated(0.42) neutral(0.434) NULL FOXP2 93986 genome.wustl.edu 37 7 114282659 114282659 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_148898.2 +1 reviewed p.L349I 1.000 265 0% 133 29.3% - - possibly_damaging(0.926) tolerated(0.18) neutral(0.430) NULL TES 26136 genome.wustl.edu 37 7 115889084 115889084 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015641.2 +1 reviewed p.R42C 1.000 108 0.9% 50 34% - - benign(0.07) deleterious(0.04) neutral(0.354) NULL MET 4233 genome.wustl.edu 37 7 116340047 116340047 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127500.1 +1 reviewed p.K303N 0.993 112 0% 73 26% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema CAPZA2 830 genome.wustl.edu 37 7 116544243 116544243 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006136.2 +1 reviewed p.E78* 1.000 308 0.3% 150 28.7% - - - - - HMMPfam_F-actin_cap_A,superfamily_Subunits of heterodimeric actin filament capping protein Capz CAPZA2 830 genome.wustl.edu 37 7 116546389 116546389 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006136.2 +1 reviewed p.N167H 1.000 313 0% 182 39% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_F-actin_cap_A,superfamily_Subunits of heterodimeric actin filament capping protein Capz ST7 7982 genome.wustl.edu 37 7 116859143 116859143 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021908.2 +1 reviewed p.R471W 1.000 297 0.3% 143 35.7% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_ST7 ST7 7982 genome.wustl.edu 37 7 116870095 116870095 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000490039 +1 known p.S541Y 1.000 19 0% 11 45.5% - - unknown(0) - - NULL WNT2 7472 genome.wustl.edu 37 7 116918236 116918236 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003391.2 -1 reviewed p.K352N 0.995 254 0% 139 41% - - benign(0.196) deleterious(0) neutral(0.463) NULL CTTNBP2 83992 genome.wustl.edu 37 7 117431991 117431991 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033427.2 -1 reviewed p.S420L 0.001 558 0% 267 17.6% - - benign(0.309) tolerated(0.22) neutral(0.139) HMMPfam_CortBP2 NAA38 51691 genome.wustl.edu 37 7 117831991 117831991 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016200.4 +1 reviewed p.E76* 1.000 312 0% 123 42.3% - - - - - superfamily_Sm-like ribonucleoproteins KCND2 3751 genome.wustl.edu 37 7 119915440 119915440 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012281.2 +1 reviewed p.P252S 1.000 345 0% 202 40.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels C7orf58 79974 genome.wustl.edu 37 7 120767275 120767275 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024913.4 +1 validated p.E422 1.000 360 0% 166 39.2% - - - - - NULL C7orf58 79974 genome.wustl.edu 37 7 120911452 120911452 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024913.4 +1 validated p.L946I 1.000 564 0% 251 35.9% - - probably_damaging(0.995) deleterious(0.04) deleterious(0.806) NULL WNT16 51384 genome.wustl.edu 37 7 120979026 120979026 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_057168.1 +1 reviewed p.F242C 1.000 246 0% 84 25% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_wnt,HMMSmart_SM00097 PTPRZ1 5803 genome.wustl.edu 37 7 121612700 121612700 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002851.2 +1 reviewed p.S137F 1.000 283 0% 121 28.9% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase PTPRZ1 5803 genome.wustl.edu 37 7 121623766 121623766 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002851.2 +1 reviewed p.N223H 1.000 266 0% 150 38.7% - - possibly_damaging(0.847) deleterious(0.02) deleterious(0.708) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase PTPRZ1 5803 genome.wustl.edu 37 7 121651730 121651730 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002851.2 +1 reviewed p.S877Y 1.000 236 0% 176 38.1% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL PTPRZ1 5803 genome.wustl.edu 37 7 121651802 121651802 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002851.2 +1 reviewed p.K901I 0.998 297 0% 184 30.4% - - possibly_damaging(0.708) deleterious(0) deleterious(0.700) NULL PTPRZ1 5803 genome.wustl.edu 37 7 121652468 121652468 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002851.2 +1 reviewed p.F1123C 0.990 268 0% 192 37% - - possibly_damaging(0.716) deleterious(0) deleterious(0.704) NULL PTPRZ1 5803 genome.wustl.edu 37 7 121682775 121682775 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002851.2 +1 reviewed p.R1972I 1.000 253 0% 104 38.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II AASS 10157 genome.wustl.edu 37 7 121769475 121769475 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005763.3 -1 reviewed p.F109L 1.000 295 0% 96 40.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AlaDh_PNT_N,superfamily_Formate/glycerate dehydrogenase catalytic domain-like AASS 10157 genome.wustl.edu 37 7 121773640 121773640 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005763.3 -1 reviewed p.I47 1.000 295 0% 160 34.4% - - - - - HMMPfam_AlaDh_PNT_N,superfamily_Formate/glycerate dehydrogenase catalytic domain-like CADPS2 93664 genome.wustl.edu 37 7 121960374 121960374 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017954.10 -1 reviewed p.R1246* 1.000 321 0% 183 23.5% - - - - - NULL CADPS2 93664 genome.wustl.edu 37 7 122078450 122078450 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000397721 -1 known p.R453* 0.225 445 0% 221 31.7% - - - - - HMMPfam_DUF1041 RNF148 378925 genome.wustl.edu 37 7 122342489 122342489 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198085.1 -1 validated p.E106K 1.000 293 0.7% 179 40.8% - - benign(0.031) tolerated(0.41) neutral(0.017) HMMPfam_PA,superfamily_SSF52025 RNF148 378925 genome.wustl.edu 37 7 122342775 122342775 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198085.1 -1 validated p.T10 0.000 99 0% 48 29.2% - - - - - NULL CADPS2 93664 genome.wustl.edu 37 7 122526173 122526173 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017954.10 -1 reviewed p.R73 0.999 25 0% 19 36.8% - - - - - NULL TAS2R16 50833 genome.wustl.edu 37 7 122635291 122635291 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016945.2 -1 reviewed p.S133Y 0.000 351 0% 182 40.7% - - benign(0.033) deleterious(0) neutral(0.446) HMMPfam_TAS2R SLC13A1 6561 genome.wustl.edu 37 7 122808570 122808570 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022444.3 -1 validated p.K200T 0.968 373 0% 166 34.3% - - benign(0.086) tolerated(0.06) neutral(0.329) HMMPfam_Na_sulph_symp SLC13A1 6561 genome.wustl.edu 37 7 122809211 122809211 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022444.3 -1 validated p.E182* 1.000 365 0% 217 34.1% - - - - - HMMPfam_Na_sulph_symp IQUB 154865 genome.wustl.edu 37 7 123143416 123143416 + Silent SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178827.4 -1 validated p.G178 0.201 84 0% 40 37.5% - - - - - HMMPfam_DUF2021,superfamily_Ubiquitin-like IQUB 154865 genome.wustl.edu 37 7 123152025 123152025 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178827.4 -1 validated p.E124* 0.000 144 0% 98 15.3% - - - - - HMMPfam_DUF2021 LMOD2 442721 genome.wustl.edu 37 7 123302797 123302797 + Missense_Mutation SNP G G C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207163.1 +1 validated p.S386T 0.554 154 0% 73 32.9% - - benign(0.009) tolerated(0.44) neutral(0.013) NULL HYAL4 23553 genome.wustl.edu 37 7 123517196 123517196 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012269.2 +1 reviewed p.S478I 0.000 182 0% 101 30.7% - - possibly_damaging(0.861) deleterious(0) deleterious(0.778) NULL ZNF800 168850 genome.wustl.edu 37 7 127014333 127014333 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000265827 -1 known p.E353* 1.000 159 0% 98 34.7% - - - - - NULL GCC1 79571 genome.wustl.edu 37 7 127224251 127224251 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024523.5 -1 reviewed p.R329H 0.053 156 0% 119 41.2% - - benign(0) tolerated(0.6) neutral(0.004) NULL ARF5 381 genome.wustl.edu 37 7 127231348 127231348 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001662.2 +1 reviewed p.R180C 1.000 65 0% 53 34% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMSmart_SM00175,HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases PAX4 5078 genome.wustl.edu 37 7 127253851 127253851 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006193.2 -1 reviewed p.R166L 1.000 117 0% 88 31.8% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like RBM28 55131 genome.wustl.edu 37 7 127958146 127958146 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018077.2 -1 reviewed p.R526Q 1.000 163 0% 88 20.5% - - probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMSmart_RRM,superfamily_SSF54928 RBM28 55131 genome.wustl.edu 37 7 127963638 127963638 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018077.2 -1 reviewed p.R449H 1.000 353 0% 219 14.6% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL PRRT4 401399 genome.wustl.edu 37 7 127999813 127999813 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001114726.2 -1 validated p.S78Y 0.024 93 0% 55 32.7% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL CALU 813 genome.wustl.edu 37 7 128399845 128399845 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130674.1 +1 reviewed e4-1 1.000 369 0% 158 12.7% - - - - - - CCDC136 64753 genome.wustl.edu 37 7 128441539 128441539 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022742.3 +1 validated p.L216I 0.003 122 0% 73 28.8% - - benign(0.047) tolerated(0.34) neutral(0.026) NULL FLNC 2318 genome.wustl.edu 37 7 128488867 128488867 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001458.4 +1 reviewed p.K1586N 1.000 105 0% 101 32.7% - - probably_damaging(0.963) tolerated(0.07) deleterious(0.725) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNC 2318 genome.wustl.edu 37 7 128492998 128492998 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001458.4 +1 reviewed p.A2041T 1.000 51 0% 28 28.6% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNC 2318 genome.wustl.edu 37 7 128498514 128498514 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001458.4 +1 reviewed p.I2705 1.000 191 0% 123 39% - - - - - HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin TNPO3 23534 genome.wustl.edu 37 7 128641153 128641153 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012470.2 -1 validated p.T278A 1.000 188 0% 124 41.1% - - benign(0) tolerated(0.66) neutral(0.003) superfamily_ARM repeat AHCYL2 23382 genome.wustl.edu 37 7 129019561 129019561 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015328.2 +1 validated p.S149Y 1.000 219 0.9% 149 10.7% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ENSG00000245606 0 genome.wustl.edu 37 7 130008546 130008546 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000501661 -1 known NULL 0.005 76 0% 39 48.7% - - - - - - TSGA13 114960 genome.wustl.edu 37 7 130357610 130357610 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052933.2 -1 provisional p.S165L 0.000 460 0% 236 36.9% - - benign(0.001) tolerated(1) - NULL PLXNA4 91584 genome.wustl.edu 37 7 132192604 132192604 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020911.1 -1 validated p.L283 0.011 100 0% 64 37.5% - - - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain PLXNA4 91584 genome.wustl.edu 37 7 132192874 132192874 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020911.1 -1 validated p.P193 0.012 128 0% 119 34.5% - - - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain ENSG00000232856 0 genome.wustl.edu 37 7 132719526 132719526 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000448615 -1 known p.P154 0.951 134 0% 60 31.7% - - - - - superfamily_eEF1-gamma domain LRGUK 136332 genome.wustl.edu 37 7 133933768 133933768 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144648.1 +1 provisional p.K713T 0.000 348 0% 145 16.6% - - possibly_damaging(0.777) deleterious(0) deleterious(0.734) NULL BPGM 669 genome.wustl.edu 37 7 134346694 134346694 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001724.4 +1 reviewed p.C145 0.040 89 0% 53 35.8% - - - - - HMMPfam_PGAM,superfamily_Phosphoglycerate mutase-like CALD1 800 genome.wustl.edu 37 7 134644831 134644831 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033138.3 +1 reviewed p.S723* 0.094 237 0% 184 37% - - - - - HMMPfam_Caldesmon AGBL3 340351 genome.wustl.edu 37 7 134719166 134719166 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178563.3 +1 provisional p.R275H 0.569 225 0% 112 38.4% - - benign(0.013) tolerated(0.23) neutral(0.042) NULL AGBL3 340351 genome.wustl.edu 37 7 134730568 134730568 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178563.3 +1 provisional p.E583* 1.000 209 0% 87 44.8% - - - - - NULL NUP205 23165 genome.wustl.edu 37 7 135307642 135307642 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015135.2 +1 validated p.R1483Q 1.000 199 0% 84 36.9% - - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL FAM180A 389558 genome.wustl.edu 37 7 135418931 135418931 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_205855.3 -1 validated p.R105H 0.986 145 0% 89 25.8% - - probably_damaging(1) tolerated(0.21) deleterious(0.544) NULL CHRM2 1129 genome.wustl.edu 37 7 136701002 136701002 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000739.2 +1 reviewed p.A464T 0.997 328 0% 201 41.8% - - benign(0) tolerated(1) - NULL DGKI 9162 genome.wustl.edu 37 7 137076040 137076040 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004717.2 -1 reviewed p.D1042Y 0.995 223 0% 113 38.1% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) superfamily_ANK DGKI 9162 genome.wustl.edu 37 7 137172427 137172427 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004717.2 -1 reviewed p.L771 0.996 218 0% 78 11.5% - - - - - NULL CREB3L2 64764 genome.wustl.edu 37 7 137593044 137593044 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194071.2 -1 validated p.R241Q 0.999 90 0% 48 47.9% - - probably_damaging(0.997) tolerated(0.1) deleterious(0.752) NULL SVOPL 136306 genome.wustl.edu 37 7 138341226 138341226 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001139456.1 -1 validated p.T167 0.917 243 0% 102 40.2% - - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter ATP6V0A4 50617 genome.wustl.edu 37 7 138391420 138391420 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020632.2 -1 reviewed p.K824N 1.000 117 0% 58 36.2% - - benign(0.258) tolerated(0.26) neutral(0.061) HMMPfam_V_ATPase_I ATP6V0A4 50617 genome.wustl.edu 37 7 138430005 138430005 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020632.2 -1 reviewed p.H447 0.005 355 0% 166 33.7% - - - - - HMMPfam_V_ATPase_I ATP6V0A4 50617 genome.wustl.edu 37 7 138440445 138440445 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020632.2 -1 reviewed p.D269Y 1.000 482 0% 317 36.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_V_ATPase_I ATP6V0A4 50617 genome.wustl.edu 37 7 138455906 138455906 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020632.2 -1 reviewed p.L29 0.692 177 0.6% 70 11.4% - - - - - HMMPfam_V_ATPase_I KIAA1549 57670 genome.wustl.edu 37 7 138602434 138602434 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020910.2 -1 validated p.A596 0.000 149 0% 60 35% - - - - - NULL ZC3HAV1 56829 genome.wustl.edu 37 7 138764767 138764767 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020119.3 -1 reviewed p.R307Q 0.000 76 0% 65 32.3% - - benign(0.022) tolerated(0.89) neutral(0.001) NULL ZC3HAV1 56829 genome.wustl.edu 37 7 138793841 138793841 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020119.3 -1 reviewed p.Q79H 0.000 61 0% 45 48.9% - - possibly_damaging(0.708) tolerated(0.09) deleterious(0.552) NULL UBN2 254048 genome.wustl.edu 37 7 138968416 138968416 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173569.3 +1 validated p.S839L 0.983 242 0% 151 21.2% - - benign(0.248) deleterious(0.04) neutral(0.374) NULL PARP12 64761 genome.wustl.edu 37 7 139757800 139757800 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022750.2 -1 provisional p.E121K 0.000 326 0% 162 29.6% - - benign(0.014) tolerated(0.81) neutral(0.001) NULL SLC37A3 84255 genome.wustl.edu 37 7 140048552 140048552 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207113.1 -1 validated p.A300T 1.000 226 0% 102 29.4% - - probably_damaging(0.993) tolerated(0.06) deleterious(0.772) HMMPfam_MFS_1,superfamily_MFS general substrate transporter RAB19 401409 genome.wustl.edu 37 7 140110810 140110810 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008749.2 +1 validated p.Q80P 0.000 183 0% 87 21.8% - - unknown(0) tolerated(1) - HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 DENND2A 27147 genome.wustl.edu 37 7 140301451 140301451 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015689.3 -1 validated p.N249 0.945 87 0% 40 32.5% - - - - - NULL WEE2 494551 genome.wustl.edu 37 7 141414107 141414107 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105558.1 +1 validated p.M147I 0.091 187 0% 105 39% - - benign(0.055) tolerated(0.42) neutral(0.018) NULL SSBP1 6742 genome.wustl.edu 37 7 141445301 141445301 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003143.1 +1 validated p.R107Q 1.000 340 0.3% 155 36.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SSB,superfamily_Nucleic acid-binding proteins TAS2R4 50832 genome.wustl.edu 37 7 141478495 141478495 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016944.1 +1 reviewed p.F69 0.002 547 0% 337 35.3% - - - - - HMMPfam_TAS2R,superfamily_SSF81321 TAS2R5 54429 genome.wustl.edu 37 7 141490821 141490821 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018980.2 +1 reviewed p.A220 0.502 430 0% 280 36.1% - - - - - HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like CLEC5A 23601 genome.wustl.edu 37 7 141643763 141643763 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013252.2 -1 reviewed p.V47 0.675 402 0% 198 33.8% - - - - - NULL MGAM 8972 genome.wustl.edu 37 7 141726933 141726933 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004668.2 +1 reviewed p.A334V 0.293 202 0% 89 46.1% - - benign(0.006) deleterious(0.03) neutral(0.364) NULL MGAM 8972 genome.wustl.edu 37 7 141740522 141740522 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004668.2 +1 reviewed p.G792R 1.000 285 0% 147 39.5% - - probably_damaging(0.977) tolerated(0.45) neutral(0.431) HMMPfam_Glyco_hydro_31 MGAM 8972 genome.wustl.edu 37 7 141752128 141752128 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004668.2 +1 reviewed p.G947E 1.000 218 0% 117 35% - - probably_damaging(0.982) tolerated(0.25) neutral(0.463) NULL MGAM 8972 genome.wustl.edu 37 7 141752137 141752137 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004668.2 +1 reviewed p.Y950C 0.872 212 0% 112 36.6% - - probably_damaging(0.986) deleterious(0.02) deleterious(0.818) NULL MGAM 8972 genome.wustl.edu 37 7 141758039 141758039 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004668.2 +1 reviewed p.L1244M 1.000 455 0% 241 34.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glyco_hydro_31 MGAM 8972 genome.wustl.edu 37 7 141764306 141764306 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004668.2 +1 reviewed p.T1490A 1.000 59 0% 55 27.3% - - benign(0.005) tolerated(0.99) - HMMPfam_Glyco_hydro_31 MGAM 8972 genome.wustl.edu 37 7 141773910 141773910 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000475668 +1 known p.I1739V 0.991 194 0% 98 31.6% - - benign(0) tolerated(1) - NULL TRBV2 28620 genome.wustl.edu 37 7 142001106 142001106 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000455382 +1 known p.V33 0.005 128 0% 70 38.6% - - - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin TRBV7-1 28597 genome.wustl.edu 37 7 142032279 142032279 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000390354 +1 known p.K33N 0.000 30 0% 15 26.7% - - benign(0.049) tolerated(0.45) neutral(0.015) HMMPfam_V-set,superfamily_SSF48726 TRBV4-2 28616 genome.wustl.edu 37 7 142045661 142045661 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000390392 +1 known p.E63 0.008 293 0% 139 43.2% - - - - - HMMPfam_V-set,superfamily_SSF48726 TRBC2 28638 genome.wustl.edu 37 7 142498941 142498941 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000466254 +1 known p.D73Y 0.000 140 0% 102 18.6% - - benign(0.139) deleterious(0.03) neutral(0.377) HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin EPHB6 2051 genome.wustl.edu 37 7 142561892 142561892 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004445.3 +1 reviewed p.R112W 0.999 24 4.2% 21 28.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like EPHB6 2051 genome.wustl.edu 37 7 142566058 142566058 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004445.3 +1 reviewed p.E660* 1.000 179 0% 101 22.8% - - - - - superfamily_Protein kinase-like (PK-like) KEL 3792 genome.wustl.edu 37 7 142655056 142655056 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000420.2 -1 reviewed p.G177E 1.000 184 0% 96 28.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" KEL 3792 genome.wustl.edu 37 7 142658106 142658106 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000420.2 -1 reviewed p.F103L 1.000 255 0% 129 41.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" GSTK1 373156 genome.wustl.edu 37 7 142965912 142965912 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000442394 +1 known p.P190L 0.000 245 0% 98 29.6% - - probably_damaging(0.997) - - NULL TMEM139 135932 genome.wustl.edu 37 7 142983089 142983089 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153345.1 +1 provisional p.P13 0.002 323 0% 224 37.1% - - - - - NULL CLCN1 1180 genome.wustl.edu 37 7 143018867 143018867 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000083.2 +1 reviewed p.T208S 1.000 117 0% 76 32.9% - - benign(0.038) tolerated(0.32) neutral(0.026) HMMPfam_Voltage_CLC,superfamily_Clc chloride channel CLCN1 1180 genome.wustl.edu 37 7 143028394 143028394 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000083.2 +1 reviewed p.A350V 1.000 422 0% 255 38.4% - - benign(0.102) tolerated(1) neutral(0.008) HMMPfam_Voltage_CLC,superfamily_Clc chloride channel FAM131B 9715 genome.wustl.edu 37 7 143054075 143054075 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031690.2 -1 validated p.S217 1.000 62 0% 45 31.1% - - - - - NULL EPHA1 2041 genome.wustl.edu 37 7 143092412 143092412 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005232.4 -1 reviewed p.R695* 0.993 177 0% 119 35.3% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) OR2A5 393046 genome.wustl.edu 37 7 143747678 143747678 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012365.1 +1 provisional p.L62I 0.962 330 0% 192 37.5% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2A42 402317 genome.wustl.edu 37 7 143929609 143929609 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001802.1 -1 provisional p.E104K 0.008 310 0% 174 9.2% - - possibly_damaging(0.815) deleterious(0) deleterious(0.752) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like ARHGEF5 7984 genome.wustl.edu 37 7 144060593 144060593 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005435.3 +1 reviewed p.E277 0.208 2243 0% 1060 12.8% - - - - - NULL ARHGEF5 7984 genome.wustl.edu 37 7 144069479 144069479 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005435.3 +1 reviewed p.I1311M 0.962 1030 0% 632 9.8% - - probably_damaging(0.996) tolerated(0.06) deleterious(0.784) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),PatternScan_DH_1 NOBOX 135935 genome.wustl.edu 37 7 144095652 144095652 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000467773 -1 known p.Y499 0.019 156 0% 69 27.5% - - - - - NULL NOBOX 135935 genome.wustl.edu 37 7 144098384 144098384 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080413.2 -1 provisional p.S200Y 0.001 175 0% 93 34.4% - - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL CNTNAP2 26047 genome.wustl.edu 37 7 147092834 147092834 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014141.5 +1 reviewed p.F544 0.997 193 0% 106 20.8% - - - - - superfamily_Concanavalin A-like lectins/glucanases EZH2 2146 genome.wustl.edu 37 7 148506427 148506427 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004456.3 -1 reviewed p.S695 0.809 199 0% 123 31.7% - - - - - HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199 PDIA4 9601 genome.wustl.edu 37 7 148701059 148701059 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004911.4 -1 validated p.D589N 1.000 271 0% 169 39.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Thioredoxin-like,HMMPfam_Thioredoxin ZNF786 136051 genome.wustl.edu 37 7 148777796 148777796 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152411.3 -1 validated p.F11S 1.000 213 0.5% 126 32.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF425 155054 genome.wustl.edu 37 7 148815348 148815348 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001661.2 -1 validated p.E37D 0.966 678 0.3% 351 33.6% - - possibly_damaging(0.432) deleterious(0) deleterious(0.585) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF212 7988 genome.wustl.edu 37 7 148947257 148947257 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012256.2 +1 reviewed p.R11I 1.000 138 0% 69 31.9% - - benign(0.047) tolerated(0.11) neutral(0.275) NULL ZNF212 7988 genome.wustl.edu 37 7 148951483 148951483 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012256.2 +1 reviewed p.G489R 0.003 40 0% 40 40% - - probably_damaging(0.976) deleterious(0.01) deleterious(0.824) NULL SSPO 23145 genome.wustl.edu 37 7 149477936 149477936 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000378016 +1 known p.D569 0.891 90 0% 63 36.5% - - - - - HMMPfam_VWD,HMMSmart_SM00216,HMMSmart_SM00215 SSPO 23145 genome.wustl.edu 37 7 149505650 149505650 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000378016 +1 known p.R3010Q 1.000 40 0% 43 32.6% - - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ZNF862 643641 genome.wustl.edu 37 7 149559177 149559177 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099220.1 +1 provisional p.F976 0.014 60 0% 44 38.6% - - - - - NULL REPIN1 29803 genome.wustl.edu 37 7 150066870 150066870 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099695.1 +1 validated p.S24G 1.000 154 0% 89 14.6% - - benign(0.227) deleterious(0) neutral(0.467) NULL ZNF775 285971 genome.wustl.edu 37 7 150095166 150095166 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173680.3 +1 validated p.K533E 0.015 12 0.000 9 0.444 - - benign(0.045) tolerated(1) neutral(0.003) NULL GIMAP8 155038 genome.wustl.edu 37 7 150167935 150167935 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175571.2 +1 reviewed p.A219T 0.000 428 0% 202 35.1% - - benign(0.001) tolerated(0.58) neutral(0.005) NULL GIMAP8 155038 genome.wustl.edu 37 7 150174548 150174548 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175571.2 +1 reviewed p.A560T 0.000 203 0% 93 39.8% - - benign(0) tolerated(1) - HMMPfam_AIG1,superfamily_SSF52540 NOS3 4846 genome.wustl.edu 37 7 150710902 150710902 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000603.4 +1 reviewed p.D1116N 0.998 26 0% 21 47.6% - - possibly_damaging(0.493) deleterious(0.03) deleterious(0.529) HMMPfam_NAD_binding_1,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain ASIC3 9311 genome.wustl.edu 37 7 150748162 150748162 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020321.2 +1 reviewed p.N349S 1.000 48 0% 30 36.7% - - benign(0.01) deleterious(0.02) neutral(0.384) HMMPfam_ASC SLC4A2 6522 genome.wustl.edu 37 7 150765124 150765124 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003040.3 +1 validated p.R377H 1.000 59 0% 45 37.8% - - possibly_damaging(0.937) deleterious(0.04) deleterious(0.732) HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein SLC4A2 6522 genome.wustl.edu 37 7 150771785 150771785 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003040.3 +1 validated p.F968L 1.000 105 0% 74 36.5% - - benign(0.001) tolerated(1) - HMMPfam_HCO3_cotransp AGAP3 116988 genome.wustl.edu 37 7 150840570 150840570 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031946.4 +1 validated p.A806S 1.000 132 0% 115 37.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Ankyrin repeat ASB10 136371 genome.wustl.edu 37 7 150883726 150883726 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142459.1 -1 reviewed p.E158K 0.983 23 0% 16 43.8% - - probably_damaging(0.995) tolerated(1) neutral(0.458) superfamily_Ankyrin repeat CHPF2 54480 genome.wustl.edu 37 7 150933659 150933659 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019015.1 +1 provisional p.E332* 0.969 75 0% 55 10.9% - - - - - HMMPfam_CHGN SMARCD3 6604 genome.wustl.edu 37 7 150939621 150939621 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001003801.1 -1 reviewed p.S175 0.371 164 0% 103 38.8% - - - - - NULL WDR86 349136 genome.wustl.edu 37 7 151079030 151079030 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000341363 -1 known p.R322* 0.898 26 0% 14 28.6% - - - - - NULL GALNTL5 168391 genome.wustl.edu 37 7 151699941 151699941 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145292.3 +1 validated p.K267 0.000 417 0% 208 28.4% - - - - - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases MLL3 58508 genome.wustl.edu 37 7 151836804 151836804 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_170606.2 -1 reviewed p.R4806* 1.000 380 0% 251 33.9% - - - - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain MLL3 58508 genome.wustl.edu 37 7 151843690 151843690 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000360104 -1 known p.G2236R 0.017 131 0% 62 14.5% - - - - - HMMPfam_FYRC,HMMSmart_SM00542 MLL3 58508 genome.wustl.edu 37 7 151873823 151873823 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000360104 -1 known p.N411D 0.000 298 0% 185 35.7% - - - - - NULL MLL3 58508 genome.wustl.edu 37 7 151877000 151877000 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_170606.2 -1 reviewed p.R2454K 1.000 325 0% 156 39.7% - - possibly_damaging(0.95) - - NULL MLL3 58508 genome.wustl.edu 37 7 151877808 151877808 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_170606.2 -1 reviewed p.E2379D 1.000 169 0% 81 24.7% - - probably_damaging(0.98) - - NULL MLL3 58508 genome.wustl.edu 37 7 151880125 151880125 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_170606.2 -1 reviewed p.S1733 0.654 398 0% 239 36.4% - - - - - NULL MLL3 58508 genome.wustl.edu 37 7 151880129 151880129 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_170606.2 -1 reviewed p.D1732G 1.000 398 0% 241 40.2% - - probably_damaging(0.999) - - NULL MLL3 58508 genome.wustl.edu 37 7 151945686 151945686 + Nonstop_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000416955 -1 known p.*151L 0.021 48 0% 51 23.5% - - - - - NULL PAXIP1 22976 genome.wustl.edu 37 7 154767529 154767529 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007349.3 -1 reviewed p.Q317H 0.079 178 0% 122 27.9% - - unknown(0) tolerated(0.68) - NULL CNPY1 285888 genome.wustl.edu 37 7 155299793 155299793 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001103176.1 -1 validated p.E55* 1.000 271 0% 173 32.4% - - - - - NULL CNPY1 285888 genome.wustl.edu 37 7 155301726 155301726 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001103176.1 -1 validated p.D3N 1.000 76 0% 47 12.8% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SHH 6469 genome.wustl.edu 37 7 155599049 155599049 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000193.2 -1 reviewed p.A168V 1.000 57 0% 49 42.9% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_HH_signal,superfamily_Hedgehog_sig_N RNF32 140545 genome.wustl.edu 37 7 156437373 156437373 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030936.2 +1 reviewed p.K66Q 0.452 172 0% 72 22.2% - - possibly_damaging(0.801) tolerated(0.17) neutral(0.360) NULL DNAJB6 10049 genome.wustl.edu 37 7 157178242 157178242 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_058246.3 +1 reviewed p.E210K 1.000 214 0% 62 17.7% - - unknown(0) deleterious(0) - NULL PTPRN2 5799 genome.wustl.edu 37 7 157396768 157396768 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002847.3 -1 reviewed e16-1 1.000 95 0% 40 20% - - - - - - PTPRN2 5799 genome.wustl.edu 37 7 157414109 157414109 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002847.3 -1 reviewed p.F763 0.094 92 0% 53 30.2% - - - - - HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II ENSG00000186921 0 genome.wustl.edu 37 7 158415126 158415126 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000335132 -1 known p.K182N 0.999 241 0% 136 33.1% - - - - - NULL ESYT2 57488 genome.wustl.edu 37 7 158534274 158534274 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020728.2 -1 validated p.S730L 1.000 117 0% 86 32.6% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL WDR60 55112 genome.wustl.edu 37 7 158704342 158704342 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018051.4 +1 validated p.R521I 1.000 263 0% 120 15.8% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_WD40 repeat-like VIPR2 7434 genome.wustl.edu 37 7 158829478 158829478 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003382.4 -1 validated p.R238I 0.001 100 0% 65 36.9% - - benign(0.082) deleterious(0) neutral(0.451) HMMPfam_7tm_2,superfamily_SSF81321 VIPR2 7434 genome.wustl.edu 37 7 158896490 158896490 + Silent SNP G G A rs186398445 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000418475 -1 known p.R101C 0.855 233 0% 178 32.6% - - - - - HMMPfam_HRM,HMMSmart_SM00008,superfamily_Hormone receptor domain (HRM Pfam 02793) ZNF596 169270 genome.wustl.edu 37 8 195563 195563 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042415.1 +1 validated p.R239Q 0.536 119 0% 118 57.6% - - probably_damaging(0.999) tolerated(0.77) deleterious(0.491) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 CLN8 2055 genome.wustl.edu 37 8 1719307 1719307 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018941.3 +1 reviewed p.V29 0.000 287 0% 194 28.9% - - - - - NULL ARHGEF10 9639 genome.wustl.edu 37 8 1808126 1808126 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014629.2 +1 reviewed p.P86L 0.008 122 0% 98 19.4% - - benign(0.001) deleterious(0.03) neutral(0.364) NULL ARHGEF10 9639 genome.wustl.edu 37 8 1846620 1846620 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014629.2 +1 reviewed p.D527N 1.000 125 0% 94 13.8% - - possibly_damaging(0.757) deleterious(0.02) deleterious(0.663) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain MYOM2 9172 genome.wustl.edu 37 8 2063813 2063813 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003970.2 +1 validated p.S1081I 0.979 605 0% 326 19.9% - - benign(0.054) deleterious(0.02) neutral(0.387) NULL MYOM2 9172 genome.wustl.edu 37 8 2092608 2092608 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003970.2 +1 validated p.T1367 0.012 131 0% 62 14.5% - - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 CSMD1 64478 genome.wustl.edu 37 8 2820132 2820132 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033225.5 -1 validated p.A3163T 0.873 116 0% 68 52.9% - - benign(0.003) tolerated(0.07) neutral(0.319) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD1 64478 genome.wustl.edu 37 8 2886844 2886844 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033225.5 -1 validated p.R2619* 0.126 394 0% 256 26.6% - - - - - NULL CSMD1 64478 genome.wustl.edu 37 8 3047537 3047537 + Silent SNP G G A rs192606706 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033225.5 -1 validated p.F1766 0.958 208 0% 202 25.7% - - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain DEFA4 1669 genome.wustl.edu 37 8 6793542 6793542 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001925.1 -1 reviewed p.*98 0.001 127 0% 110 50.9% - - - - - NULL PPP1R3B 79660 genome.wustl.edu 37 8 8999144 8999144 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024607.2 -1 validated p.I6 0.026 63 0% 56 51.8% - - - - - NULL TNKS 8658 genome.wustl.edu 37 8 9622298 9622298 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003747.2 +1 validated p.R1149* 1.000 368 0% 241 19.9% - - - - - HMMPfam_PARP,superfamily_ADP-ribosylation PRSS55 203074 genome.wustl.edu 37 8 10387128 10387128 + Missense_Mutation SNP G G C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198464.2 +1 validated p.S89T 0.001 321 0% 239 49.4% - - possibly_damaging(0.556) tolerated(0.13) neutral(0.442) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases RP1L1 94137 genome.wustl.edu 37 8 10465434 10465434 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178857.5 -1 validated p.P2058 0.000 716 0.1% 595 12.9% - - - - - HMMPfam_S-antigen RP1L1 94137 genome.wustl.edu 37 8 10480477 10480477 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178857.5 -1 validated p.R79C 1.000 43 0% 37 29.7% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_DCX,superfamily_SSF89837 SOX7 83595 genome.wustl.edu 37 8 10587788 10587788 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031439.2 -1 reviewed p.F52L 1.000 22 0% 22 18.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box MTMR9 66036 genome.wustl.edu 37 8 11152750 11152750 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015458.3 +1 reviewed p.R77Q 1.000 304 0% 132 49.2% - - benign(0.236) tolerated(0.34) neutral(0.046) superfamily_SSF50729 MTMR9 66036 genome.wustl.edu 37 8 11174293 11174293 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015458.3 +1 reviewed p.R409C 1.000 268 0.4% 167 18% - - probably_damaging(0.992) tolerated(0.17) deleterious(0.506) superfamily_SSF52799 GATA4 2626 genome.wustl.edu 37 8 11615887 11615887 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002052.3 +1 reviewed p.A411V 0.001 129 0% 138 25.4% - - benign(0.009) tolerated(0.5) neutral(0.011) NULL OR7E8P 346708 genome.wustl.edu 37 8 12541913 12541913 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000317826 -1 known p.G258 0.010 266 0% 190 22.1% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR7E8P 346708 genome.wustl.edu 37 8 12542102 12542102 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000317826 -1 known p.K195N 0.003 454 0% 293 21.8% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 LONRF1 91694 genome.wustl.edu 37 8 12594230 12594230 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152271.3 -1 provisional p.F477 1.000 214 0% 99 12.1% - - - - - superfamily_RING/U-box DLC1 10395 genome.wustl.edu 37 8 12952331 12952331 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182643.2 -1 reviewed p.R1155* 1.000 147 0% 156 31.4% - - - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP DLC1 10395 genome.wustl.edu 37 8 13251135 13251135 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182643.2 -1 reviewed p.S414Y 0.776 236 0% 192 51% - - probably_damaging(0.991) tolerated(0.9) neutral(0.444) NULL SGCZ 137868 genome.wustl.edu 37 8 14181619 14181619 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139167.2 -1 reviewed p.S110Y 1.000 272 0% 198 25.8% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_Sarcoglycan_1 MSR1 4481 genome.wustl.edu 37 8 16026308 16026308 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138715.2 -1 reviewed p.L97F 0.002 711 0% 508 20.1% - - probably_damaging(0.984) tolerated(0.28) neutral(0.462) NULL MTMR7 9108 genome.wustl.edu 37 8 17163467 17163467 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004686.4 -1 reviewed e11-1 1.000 143 0% 121 14% - - - - - - MTMR7 9108 genome.wustl.edu 37 8 17206542 17206542 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004686.4 -1 reviewed p.A173T 0.986 220 0% 148 23.6% - - benign(0.018) tolerated(0.73) neutral(0.002) HMMPfam_Myotub-related,superfamily_(Phosphotyrosine protein) phosphatases II MTMR7 9108 genome.wustl.edu 37 8 17218733 17218733 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004686.4 -1 reviewed p.E121* 1.000 466 0.2% 384 13.8% - - - - - superfamily_(Phosphotyrosine protein) phosphatases II MTUS1 57509 genome.wustl.edu 37 8 17581252 17581252 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001924.2 -1 reviewed p.A793V 0.000 320 0% 267 26.2% - - benign(0) tolerated(0.34) neutral(0.023) NULL MTUS1 57509 genome.wustl.edu 37 8 17612117 17612117 + Silent SNP C C T rs184944081 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001924.2 -1 reviewed p.P400 0.000 326 0% 233 27% - - - - - NULL PCM1 5108 genome.wustl.edu 37 8 17851108 17851108 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006197.3 +1 validated p.E1603* 1.000 320 0% 132 49.2% - - - - - NULL NAT1 9 genome.wustl.edu 37 8 18079582 18079582 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000662.5 +1 reviewed p.R9I 1.000 329 0.3% 261 54.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF54001 PSD3 23362 genome.wustl.edu 37 8 18729298 18729298 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015310.3 -1 validated p.N359T 0.000 385 0% 352 17.3% - - benign(0.002) deleterious(0) neutral(0.445) NULL PSD3 23362 genome.wustl.edu 37 8 18793598 18793598 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015310.3 -1 validated p.K26E 1.000 235 0% 161 55.3% - - unknown(0) deleterious(0) - NULL CSGALNACT1 55790 genome.wustl.edu 37 8 19277979 19277979 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130518.1 -1 validated p.S335Y 1.000 141 0% 111 27% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_CHGN,superfamily_SSF53448 CSGALNACT1 55790 genome.wustl.edu 37 8 19316061 19316061 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130518.1 -1 validated p.R243* 1.000 550 0.2% 427 54.1% - - - - - HMMPfam_CHGN,superfamily_SSF53448 CSGALNACT1 55790 genome.wustl.edu 37 8 19363408 19363408 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_024040.1 -1 validated NULL 0.700 83 0% 56 46.4% - - - - - - INTS10 55174 genome.wustl.edu 37 8 19687926 19687926 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018142.2 +1 validated p.D384N 0.998 170 0% 131 53.4% - - probably_damaging(0.991) tolerated(0.07) deleterious(0.763) NULL INTS10 55174 genome.wustl.edu 37 8 19703277 19703277 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018142.2 +1 validated p.E649* 1.000 348 0.3% 212 23.6% - - - - - NULL LPL 4023 genome.wustl.edu 37 8 19818442 19818442 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000311322 +1 known p.S390 0.961 227 0% 147 10.2% - - - - - HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) DOK2 9046 genome.wustl.edu 37 8 21768323 21768323 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003974.2 -1 reviewed p.A160D 1.000 149 0% 99 20.2% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_IRS,HMMSmart_PTBI,superfamily_SSF50729 XPO7 23039 genome.wustl.edu 37 8 21827087 21827087 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001100161.1 +1 validated p.R87W 1.000 408 0% 297 27.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IBN_N,superfamily_ARM repeat BMP1 649 genome.wustl.edu 37 8 22052051 22052051 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006129.4 +1 reviewed p.R464L 1.000 243 0% 242 54.5% - - benign(0.005) tolerated(0.18) neutral(0.056) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain PPP3CC 5533 genome.wustl.edu 37 8 22398143 22398143 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005605.3 +1 provisional p.S456L 0.998 282 0% 202 31.7% - - benign(0.283) tolerated(0.05) neutral(0.432) superfamily_SSF56300 KIAA1967 57805 genome.wustl.edu 37 8 22474981 22474981 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021174.4 +1 validated p.E632* 0.993 560 0.2% 358 26.5% - - - - - NULL CHMP7 91782 genome.wustl.edu 37 8 23106860 23106860 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152272.3 +1 validated p.A146D 0.366 114 0% 77 24.7% - - unknown(0) tolerated(0.36) - NULL SLC25A37 51312 genome.wustl.edu 37 8 23386679 23386679 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016612.2 +1 provisional p.A55V 1.000 40 0% 26 23.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr STC1 6781 genome.wustl.edu 37 8 23709781 23709781 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003155.2 -1 reviewed p.Y79H 1.000 259 0% 180 21.1% - - benign(0.032) tolerated(1) neutral(0.002) HMMPfam_Stanniocalcin ADAMDEC1 27299 genome.wustl.edu 37 8 24254941 24254941 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014479.3 +1 validated p.R200Q 0.419 258 0% 136 27.2% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL ADAM7 8756 genome.wustl.edu 37 8 24300065 24300065 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000380789 +1 known p.G44 0.000 340 0% 219 18.7% - - - - - HMMPfam_Pep_M12B_propep NEFM 4741 genome.wustl.edu 37 8 24773148 24773148 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005382.2 +1 reviewed p.R371W 1.000 223 0% 187 18.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament NEFM 4741 genome.wustl.edu 37 8 24775623 24775623 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005382.2 +1 reviewed p.S752L 0.046 283 0.4% 158 52.5% - - possibly_damaging(0.84) tolerated(0.11) deleterious(0.593) NULL NEFL 4747 genome.wustl.edu 37 8 24811806 24811806 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000221169 -1 known p.K353T 1.000 562 0% 432 26.4% - - - - - HMMPfam_Filament DOCK5 80005 genome.wustl.edu 37 8 25224468 25224468 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024940.6 +1 validated p.R1069H 1.000 449 0% 277 46.9% - - probably_damaging(0.973) deleterious(0.01) deleterious(0.821) NULL DOCK5 80005 genome.wustl.edu 37 8 25234911 25234911 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024940.6 +1 validated p.E1303K 1.000 327 0% 212 28.3% - - benign(0.023) tolerated(0.11) neutral(0.273) NULL CDCA2 157313 genome.wustl.edu 37 8 25319714 25319714 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152562.2 +1 validated p.S126Y 0.013 280 0% 191 19.4% - - possibly_damaging(0.688) tolerated(0.05) deleterious(0.591) NULL CDCA2 157313 genome.wustl.edu 37 8 25364621 25364621 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152562.2 +1 validated p.R813 0.000 189 0% 90 23.3% - - - - - NULL EBF2 64641 genome.wustl.edu 37 8 25720245 25720245 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022659.2 -1 validated p.D360Y 1.000 410 0% 325 52.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_HLH EBF2 64641 genome.wustl.edu 37 8 25890659 25890659 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022659.2 -1 validated p.E165K 1.000 416 0% 281 81.5% - - possibly_damaging(0.455) deleterious(0.01) deleterious(0.554) PatternScan_COE EBF2 64641 genome.wustl.edu 37 8 25899737 25899737 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022659.2 -1 validated p.E54 1.000 218 0% 180 48.9% - - - - - NULL PPP2R2A 5520 genome.wustl.edu 37 8 26221239 26221239 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002717.3 +1 reviewed p.F269L 1.000 207 0% 124 51.6% - - benign(0.051) tolerated(0.06) neutral(0.326) superfamily_WD40 repeat-like PPP2R2A 5520 genome.wustl.edu 37 8 26221327 26221327 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002717.3 +1 reviewed p.R298Q 1.000 422 0% 223 26% - - probably_damaging(0.956) deleterious(0.03) deleterious(0.764) HMMSmart_SM00320,superfamily_WD40 repeat-like DPYSL2 1808 genome.wustl.edu 37 8 26492317 26492317 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001386.4 +1 validated p.R238C 1.000 126 0% 144 45.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Amidohydro_1,superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases PTK2B 2185 genome.wustl.edu 37 8 27289827 27289827 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004103.3 +1 reviewed p.P312 0.000 87 0% 66 27.3% - - - - - NULL PTK2B 2185 genome.wustl.edu 37 8 27300451 27300451 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004103.3 +1 reviewed p.R700Q 1.000 182 0% 120 23.3% - - probably_damaging(1) tolerated(0.23) deleterious(0.541) NULL CHRNA2 1135 genome.wustl.edu 37 8 27321375 27321375 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000742.3 -1 reviewed p.Q195H 1.000 349 0% 318 54.1% - - benign(0.016) deleterious(0) neutral(0.445) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL CLU 1191 genome.wustl.edu 37 8 27456053 27456053 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001831.2 -1 reviewed p.E474* 0.374 111 0% 62 45.2% - - - - - HMMPfam_Clusterin,HMMSmart_CLa CLU 1191 genome.wustl.edu 37 8 27462599 27462599 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001831.2 -1 reviewed p.R276H 0.338 383 0% 227 23.8% - - probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMPfam_Clusterin,HMMSmart_CLb CCDC25 55246 genome.wustl.edu 37 8 27614247 27614247 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018246.2 -1 validated p.R53* 1.000 262 0% 149 48.3% - - - - - HMMPfam_DUF814 CCDC25 55246 genome.wustl.edu 37 8 27614284 27614284 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018246.2 -1 validated p.F40L 1.000 246 0% 149 26.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF814 ESCO2 157570 genome.wustl.edu 37 8 27657194 27657194 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017420.2 +1 reviewed p.R545I 1.000 220 0% 135 31.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ELP3 55140 genome.wustl.edu 37 8 27950749 27950749 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018091.5 +1 validated p.K6N 1.000 343 0% 207 54.6% - - benign(0.189) deleterious(0.01) neutral(0.423) NULL EXTL3 2137 genome.wustl.edu 37 8 28574666 28574666 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001440.2 +1 provisional p.E364K 1.000 57 0% 66 22.7% - - possibly_damaging(0.84) tolerated(0.66) neutral(0.324) HMMPfam_Exostosin INTS9 55756 genome.wustl.edu 37 8 28695257 28695257 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018250.3 -1 reviewed p.L100I 1.000 141 0% 119 53.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DUSP4 1846 genome.wustl.edu 37 8 29195983 29195983 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001394.5 -1 reviewed p.L205 0.976 152 0% 129 21.7% - - - - - HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II UBXN8 7993 genome.wustl.edu 37 8 30614366 30614366 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000265616 +1 known p.E164* 0.000 221 0% 179 52% - - - - - NULL TEX15 56154 genome.wustl.edu 37 8 30699662 30699662 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031271.3 -1 validated p.S2291Y 0.000 294 0% 173 54.3% - - probably_damaging(0.983) tolerated(0.81) neutral(0.429) NULL TEX15 56154 genome.wustl.edu 37 8 30704965 30704965 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031271.3 -1 validated p.N523K 0.003 340 0% 192 26.6% - - benign(0.15) tolerated(0.66) neutral(0.015) NULL TTI2 80185 genome.wustl.edu 37 8 33357960 33357960 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001102401.1 -1 validated p.I436 0.844 228 0% 150 23.3% - - - - - NULL UNC5D 137970 genome.wustl.edu 37 8 35541191 35541191 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080872.2 +1 validated p.A233T 1.000 108 0% 129 35.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin KCNU1 157855 genome.wustl.edu 37 8 36664949 36664949 + Missense_Mutation SNP C C A rs1079677 byCluster;by2Hit2Allele TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031836.2 +1 validated p.L213I 1.000 266 0% 266 20.7% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Ion_trans,superfamily_SSF81324 KCNU1 157855 genome.wustl.edu 37 8 36780067 36780067 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031836.2 +1 validated p.E886* 0.007 481 0.2% 366 24.3% - - - - - NULL ERLIN2 11160 genome.wustl.edu 37 8 37609152 37609152 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007175.6 +1 validated p.K220Q 1.000 278 0% 153 19.6% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL DDHD2 23259 genome.wustl.edu 37 8 38105320 38105320 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015214.2 +1 validated p.I405 0.992 138 0% 70 17.1% - - - - - HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain PPAPDC1B 84513 genome.wustl.edu 37 8 38122072 38122072 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001102559.1 -1 validated p.R229W 0.900 193 0% 145 51.7% - - possibly_damaging(0.889) deleterious(0.02) deleterious(0.732) HMMPfam_PAP2,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase LETM2 137994 genome.wustl.edu 37 8 38258458 38258458 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144652.1 +1 provisional p.R196C 0.997 149 0% 133 20.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LETM1 FGFR1 2260 genome.wustl.edu 37 8 38314891 38314891 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023110.2 -1 reviewed p.P25L 0.968 121 0% 91 31.9% - - benign(0.045) tolerated(0.69) neutral(0.005) NULL TACC1 6867 genome.wustl.edu 37 8 38677639 38677639 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006283.2 +1 reviewed p.E293* 0.003 82 0% 58 12.1% - - - - - NULL ADAM9 8754 genome.wustl.edu 37 8 38865415 38865415 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003816.2 +1 reviewed p.Q36H 1.000 426 0% 230 49.6% - - probably_damaging(0.972) deleterious(0.01) deleterious(0.820) HMMPfam_Pep_M12B_propep ADAM32 203102 genome.wustl.edu 37 8 39068771 39068771 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145004.5 +1 validated p.K387N 0.000 348 0% 296 30.7% - - benign(0) tolerated(0.55) neutral(0.007) NULL ADAM32 203102 genome.wustl.edu 37 8 39112006 39112006 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145004.5 +1 validated p.G659E 0.000 174 0% 115 50.4% - - benign(0.003) tolerated(0.16) neutral(0.059) NULL ADAM18 8749 genome.wustl.edu 37 8 39587422 39587422 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014237.1 +1 reviewed p.S728* 0.361 356 0% 215 20.5% - - - - - NULL ADAM2 2515 genome.wustl.edu 37 8 39607194 39607194 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001464.3 -1 reviewed p.D623Y 0.000 382 0.3% 288 24.7% - - benign(0.163) deleterious(0.04) neutral(0.363) HMMPfam_EGF_2 GINS4 84296 genome.wustl.edu 37 8 41397471 41397471 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032336.2 +1 validated p.V144 0.013 135 0% 116 23.3% - - - - - HMMPfam_Sld5 ANK1 286 genome.wustl.edu 37 8 41530318 41530318 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142446.1 -1 reviewed p.I1591 1.000 52 0% 52 38.5% - - - - - NULL ANK1 286 genome.wustl.edu 37 8 41548021 41548021 + Missense_Mutation SNP G G A rs113948846 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142446.1 -1 reviewed p.R1360W 1.000 84 0% 104 55.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ANK1 286 genome.wustl.edu 37 8 41550298 41550298 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142446.1 -1 reviewed p.F1283 1.000 110 0% 68 27.9% - - - - - NULL ANK1 286 genome.wustl.edu 37 8 41575639 41575639 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142446.1 -1 reviewed p.I430 0.039 92 0% 99 25.3% - - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK KAT6A 7994 genome.wustl.edu 37 8 41790264 41790264 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099412.1 -1 validated p.S1825F 1.000 786 0% 570 52.3% - - probably_damaging(0.976) deleterious(0.01) deleterious(0.824) NULL KAT6A 7994 genome.wustl.edu 37 8 41791516 41791516 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099412.1 -1 validated p.E1408K 0.811 224 0% 228 53.1% - - possibly_damaging(0.916) deleterious(0.03) deleterious(0.732) NULL KAT6A 7994 genome.wustl.edu 37 8 41794925 41794925 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099412.1 -1 validated p.I1067 0.993 222 0% 245 28.6% - - - - - NULL AP3M2 10947 genome.wustl.edu 37 8 42022655 42022655 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134296.1 +1 reviewed p.D217A 1.000 217 0% 178 24.7% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor PLAT 5327 genome.wustl.edu 37 8 42036566 42036566 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000930.3 -1 reviewed p.S460L 1.000 55 0% 44 40.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases CHRNA6 8973 genome.wustl.edu 37 8 42612179 42612179 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004198.2 -1 provisional p.I89S 1.000 151 0% 97 48.5% - - benign(0) tolerated(0.43) neutral(0.013) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like KIAA0146 23514 genome.wustl.edu 37 8 48511562 48511562 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080394.1 +1 predicted p.E450* 0.001 169 0.6% 108 50% - - - - - NULL PRKDC 5591 genome.wustl.edu 37 8 48689458 48689458 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000314191 -1 known p.K4042N 0.998 628 0% 541 60.4% - - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) HMMSmart_SM00146 PRKDC 5591 genome.wustl.edu 37 8 48691059 48691059 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001081640.1 -1 validated p.S3907L 0.046 92 0% 81 43.2% - - - - - NULL PRKDC 5591 genome.wustl.edu 37 8 48749969 48749969 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000314191 -1 known p.R2521Q 1.000 142 0% 126 20.6% - - possibly_damaging(0.943) tolerated(0.47) neutral(0.399) superfamily_ARM repeat PRKDC 5591 genome.wustl.edu 37 8 48842495 48842495 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000314191 -1 known p.S657F 1.000 165 0% 98 31.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat PRKDC 5591 genome.wustl.edu 37 8 48866931 48866931 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000314191 -1 known p.E159* 1.000 167 0% 115 44.3% - - - - - superfamily_ARM repeat PXDNL 137902 genome.wustl.edu 37 8 52287167 52287167 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144651.4 -1 validated p.D1228Y 1.000 162 0% 124 12.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases PXDNL 137902 genome.wustl.edu 37 8 52325728 52325728 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144651.4 -1 validated p.R629Q 0.936 421 0% 291 22.7% - - probably_damaging(0.997) tolerated(0.35) deleterious(0.487) NULL PXDNL 137902 genome.wustl.edu 37 8 52567263 52567263 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144651.4 -1 validated p.K74N 1.000 471 0% 302 23.2% - - benign(0.096) tolerated(0.31) neutral(0.034) HMMSmart_SM00369,superfamily_L domain-like PCMTD1 115294 genome.wustl.edu 37 8 52733045 52733045 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052937.2 -1 validated p.E314* 1.000 713 0% 365 24.4% - - - - - NULL PCMTD1 115294 genome.wustl.edu 37 8 52746175 52746175 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052937.2 -1 validated p.R162Q 1.000 294 0% 201 21.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF53335 FAM150A 389658 genome.wustl.edu 37 8 53454991 53454991 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207413.3 -1 validated p.D69Y 1.000 343 0% 287 21.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RB1CC1 9821 genome.wustl.edu 37 8 53596200 53596200 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014781.4 -1 reviewed p.S93L 1.000 134 0% 75 60% - - probably_damaging(0.958) deleterious(0.04) deleterious(0.750) NULL RB1CC1 9821 genome.wustl.edu 37 8 53596249 53596249 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014781.4 -1 reviewed p.E77* 1.000 95 0% 61 23% - - - - - NULL TCEA1 6917 genome.wustl.edu 37 8 54906281 54906281 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006756.2 -1 validated p.K89N 1.000 660 0% 469 16.8% - - benign(0.269) tolerated(0.34) neutral(0.052) NULL RP1 6101 genome.wustl.edu 37 8 55538723 55538723 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006269.1 +1 reviewed p.K761Q 0.004 48 0% 22 31.8% - - possibly_damaging(0.893) deleterious(0) deleterious(0.796) NULL RP1 6101 genome.wustl.edu 37 8 55539258 55539258 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006269.1 +1 reviewed p.R939I 0.143 97 0% 51 35.3% - - benign(0.404) deleterious(0) deleterious(0.575) NULL RP1 6101 genome.wustl.edu 37 8 55542255 55542255 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006269.1 +1 reviewed p.R1938H 0.964 129 0% 72 50% - - probably_damaging(0.989) tolerated(0.13) deleterious(0.692) NULL XKR4 114786 genome.wustl.edu 37 8 56436607 56436607 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052898.1 +1 provisional p.E592* 1.000 199 0% 175 13.7% - - - - - NULL PENK 5179 genome.wustl.edu 37 8 57353999 57353999 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135690.1 -1 validated p.G212 1.000 117 0% 125 32.8% - - - - - NULL FAM110B 90362 genome.wustl.edu 37 8 59059236 59059236 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_147189.2 +1 validated p.S149 0.000 36 0% 18 33.3% - - - - - NULL CYP7A1 1581 genome.wustl.edu 37 8 59404126 59404126 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000780.3 -1 reviewed p.K475E 0.500 116 0% 92 25% - - benign(0.017) tolerated(0.25) neutral(0.037) HMMPfam_p450,superfamily_Cytochrome_P450 TOX 9760 genome.wustl.edu 37 8 59728228 59728228 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014729.2 -1 reviewed p.S354L 0.998 472 0% 341 46.6% - - benign(0.076) tolerated(0.1) neutral(0.292) NULL CLVS1 157807 genome.wustl.edu 37 8 62212525 62212525 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173519.2 +1 validated p.D47N 1.000 190 0% 174 25.9% - - possibly_damaging(0.455) deleterious(0.02) deleterious(0.532) superfamily_CRAL/TRIO N-terminal domain CLVS1 157807 genome.wustl.edu 37 8 62289271 62289271 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173519.2 +1 validated p.N188T 1.000 247 0% 175 47.4% - - possibly_damaging(0.937) deleterious(0.04) deleterious(0.732) HMMPfam_CRAL_TRIO,HMMSmart_SM00516,superfamily_CRAL/TRIO domain CLVS1 157807 genome.wustl.edu 37 8 62412056 62412056 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173519.2 +1 validated p.E340D 0.385 202 0% 229 53.7% - - benign(0) tolerated(0.97) - NULL GGH 8836 genome.wustl.edu 37 8 63938767 63938767 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003878.2 -1 reviewed p.L150S 1.000 255 0% 148 50.7% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Peptidase_C26,superfamily_SSF52317 CYP7B1 9420 genome.wustl.edu 37 8 65509203 65509203 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004820.3 -1 reviewed p.S506Y 0.001 153 0.7% 94 21.3% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL TRIM55 84675 genome.wustl.edu 37 8 67039514 67039514 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_184085.1 +1 reviewed p.S4Y 1.000 196 0% 169 54.4% - - possibly_damaging(0.944) deleterious(0) deleterious(0.833) superfamily_RING/U-box TRIM55 84675 genome.wustl.edu 37 8 67062108 67062108 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_184085.1 +1 reviewed p.L278M 1.000 296 0% 247 53.8% - - possibly_damaging(0.949) deleterious(0.01) deleterious(0.798) NULL ADHFE1 137872 genome.wustl.edu 37 8 67361179 67361179 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000379385 +1 known p.S235L 0.004 326 0% 229 59.4% - - - - - HMMPfam_Fe-ADH ADHFE1 137872 genome.wustl.edu 37 8 67372616 67372616 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144650.2 +1 validated p.F412 0.538 91 0% 105 27.6% - - - - - HMMPfam_Fe-ADH,superfamily_Dehydroquinate synthase-like C8orf46 254778 genome.wustl.edu 37 8 67422340 67422340 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152765.3 +1 validated p.S97Y 1.000 366 0% 213 31% - - possibly_damaging(0.926) deleterious(0.01) deleterious(0.780) NULL VCPIP1 80124 genome.wustl.edu 37 8 67577214 67577214 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025054.4 -1 validated p.P660 0.936 275 0% 194 26.3% - - - - - NULL C8orf45 157777 genome.wustl.edu 37 8 67808546 67808546 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173518.4 +1 validated p.K474T 0.999 346 0% 270 25.2% - - benign(0.043) tolerated(0.33) neutral(0.026) HMMSmart_SM00350 CSPP1 79848 genome.wustl.edu 37 8 68026047 68026047 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077204.1 +1 validated p.D443Y 1.000 63 0% 39 51.3% - - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL CSPP1 79848 genome.wustl.edu 37 8 68092101 68092101 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077204.1 +1 validated p.R1084G 0.997 352 0% 234 25.6% - - benign(0.002) deleterious(0.02) neutral(0.383) NULL ARFGEF1 10565 genome.wustl.edu 37 8 68115404 68115404 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006421.3 -1 reviewed p.K1681T 1.000 294 0% 224 24.6% - - benign(0.002) tolerated(0.36) neutral(0.020) NULL ARFGEF1 10565 genome.wustl.edu 37 8 68139473 68139473 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006421.3 -1 reviewed p.R1272Q 1.000 217 0% 193 28.5% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_DUF1981,superfamily_ARM-type_fold ARFGEF1 10565 genome.wustl.edu 37 8 68170416 68170416 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006421.3 -1 reviewed p.R782H 1.000 321 0% 200 18.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7,superfamily_ARM-type_fold CPA6 57094 genome.wustl.edu 37 8 68334861 68334861 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020361.4 -1 validated p.E398K 1.000 378 0% 249 58.2% - - unknown(0) deleterious(0) - HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases CPA6 57094 genome.wustl.edu 37 8 68346382 68346382 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020361.4 -1 validated p.R311Q 1.000 287 0% 243 26.3% - - probably_damaging(0.998) tolerated(0.13) deleterious(0.727) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases CPA6 57094 genome.wustl.edu 37 8 68396051 68396051 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020361.4 -1 validated p.R264C 1.000 334 0% 238 27.7% - - probably_damaging(0.992) tolerated(0.18) deleterious(0.504) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases PREX2 80243 genome.wustl.edu 37 8 68992730 68992730 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024870.2 +1 validated p.S565 0.998 316 0% 179 23.5% - - - - - "HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" PREX2 80243 genome.wustl.edu 37 8 69017565 69017565 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025170.4 +1 validated p.E970* 0.009 141 0% 98 60.2% - - - - - NULL SULF1 23213 genome.wustl.edu 37 8 70533307 70533307 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128204.1 +1 validated p.R472Q 0.998 149 0% 124 25.8% - - probably_damaging(0.993) deleterious(0.01) deleterious(0.856) superfamily_Alkaline_phosphatase_core SULF1 23213 genome.wustl.edu 37 8 70533393 70533393 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128204.1 +1 validated p.D501N 1.000 132 0% 96 28.1% - - benign(0.001) tolerated(0.36) neutral(0.020) superfamily_Alkaline_phosphatase_core PRDM14 63978 genome.wustl.edu 37 8 70981760 70981760 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024504.2 -1 validated p.P112 0.000 54 0% 63 47.6% - - - - - NULL NCOA2 10499 genome.wustl.edu 37 8 71126245 71126245 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006540.2 -1 validated p.E51G 1.000 462 0% 302 29.1% - - possibly_damaging(0.572) deleterious(0) deleterious(0.641) HMMSmart_HLH,superfamily_HLH_basic LACTB2 51110 genome.wustl.edu 37 8 71553179 71553179 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016027.2 -1 validated p.E233D 0.889 105 0% 61 31.1% - - benign(0.001) tolerated(0.54) neutral(0.007) NULL TRPA1 8989 genome.wustl.edu 37 8 72959394 72959394 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007332.2 -1 reviewed p.R652* 0.001 249 0% 117 53% - - - - - superfamily_Ankyrin repeat LOC392232 392232 genome.wustl.edu 37 8 73139228 73139228 + RNA SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_037363.2 -1 model NULL 0.999 126 0% 95 52.6% - - - - - - LOC392232 392232 genome.wustl.edu 37 8 73152911 73152911 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_037363.2 -1 model NULL 0.000 108 0% 81 29.6% - - - - - - RDH10 157506 genome.wustl.edu 37 8 74233305 74233305 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172037.3 +1 validated p.R255* 1.000 258 0% 245 26.5% - - - - - superfamily_NAD(P)-binding Rossmann-fold domains PI15 51050 genome.wustl.edu 37 8 75737689 75737689 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015886.3 +1 reviewed p.A69T 1.000 161 0% 111 25.2% - - possibly_damaging(0.942) tolerated(0.31) neutral(0.414) HMMSmart_SCP,superfamily_SCP-like_extracellular ZFHX4 79776 genome.wustl.edu 37 8 77764215 77764215 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024721.4 +1 validated p.H1641Q 1.000 442 0% 228 49.6% - - benign(0.037) - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77765654 77765654 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024721.4 +1 validated p.S2121Y 1.000 138 0% 86 52.3% - - probably_damaging(0.959) - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 ZFHX4 79776 genome.wustl.edu 37 8 77766926 77766926 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024721.4 +1 validated p.C2545F 0.991 134 0% 99 20.2% - - possibly_damaging(0.873) - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77767563 77767563 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024721.4 +1 validated p.E2757D 1.000 100 0% 59 59.3% - - benign(0.156) - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77767662 77767662 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024721.4 +1 validated p.P2790 0.000 179 0% 92 60.9% - - - - - NULL ZC2HC1A 51101 genome.wustl.edu 37 8 79598747 79598747 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016010.2 +1 validated p.E86* 1.000 133 0% 56 41.1% - - - - - NULL TPD52 7163 genome.wustl.edu 37 8 80950387 80950387 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001025252.1 -1 validated p.T213 0.944 234 0% 181 12.7% - - - - - NULL ZNF704 619279 genome.wustl.edu 37 8 81577110 81577110 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001033723.1 -1 provisional p.T289 0.021 252 0% 175 17.7% - - - - - NULL FABP9 646480 genome.wustl.edu 37 8 82371438 82371438 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080526.1 -1 provisional p.E70* 1.000 498 0% 400 51% - - - - - HMMPfam_Lipocalin,superfamily_Calycin IMPA1 3612 genome.wustl.edu 37 8 82598199 82598199 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144878.1 -1 reviewed e1-1 0.009 36 0% 75 22.7% - - - - - - LRRCC1 85444 genome.wustl.edu 37 8 86044056 86044056 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033402.4 +1 validated p.E610* 1.000 364 0.3% 172 23.8% - - - - - NULL LRRCC1 85444 genome.wustl.edu 37 8 86047187 86047187 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033402.4 +1 validated p.L692M 1.000 208 0% 105 27.6% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ATP6V0D2 245972 genome.wustl.edu 37 8 87151702 87151702 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152565.1 +1 validated p.D107Y 1.000 171 0% 111 15.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_vATP-synt_AC39,superfamily_ATPase_V0/A0_c/d SLC7A13 157724 genome.wustl.edu 37 8 87229961 87229961 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138817.2 -1 validated p.S306Y 0.000 58 0% 46 21.7% - - probably_damaging(0.984) tolerated(0.93) neutral(0.430) HMMPfam_AA_permease CPNE3 8895 genome.wustl.edu 37 8 87558861 87558861 + Missense_Mutation SNP G G T rs146245622 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003909.3 +1 reviewed p.K257N 1.000 403 0% 157 54.1% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL CNGB3 54714 genome.wustl.edu 37 8 87591007 87591007 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019098.4 -1 reviewed p.E671D 0.963 476 0% 353 52.4% - - probably_damaging(0.984) tolerated(0.41) neutral(0.446) NULL CNGB3 54714 genome.wustl.edu 37 8 87616388 87616388 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019098.4 -1 reviewed p.L572I 0.989 219 0% 170 28.2% - - benign(0.363) tolerated(0.14) neutral(0.365) HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like DCAF4L2 138009 genome.wustl.edu 37 8 88885544 88885544 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152418.3 -1 validated p.Q219R 0.960 337 0% 350 50.3% - - probably_damaging(0.969) tolerated(0.2) neutral(0.460) superfamily_WD40_like MMP16 4325 genome.wustl.edu 37 8 89198760 89198760 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005941.4 -1 reviewed p.R117* 1.000 314 0.3% 198 51.5% - - - - - NULL SLC26A7 115111 genome.wustl.edu 37 8 92365184 92365184 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_134266.1 +1 reviewed p.R425Q 1.000 453 0% 257 16.7% - - probably_damaging(0.997) tolerated(0.49) deleterious(0.477) HMMPfam_Sulfate_transp SLC26A7 115111 genome.wustl.edu 37 8 92406210 92406210 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_134266.1 +1 reviewed p.E626D 0.998 263 0% 194 55.7% - - benign(0) tolerated(0.28) neutral(0.032) HMMPfam_STAS,superfamily_STAS RUNX1T1 862 genome.wustl.edu 37 8 92972650 92972650 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175634.1 -1 reviewed p.E545D 1.000 190 0% 153 49.7% - - probably_damaging(0.984) tolerated(0.47) neutral(0.442) HMMPfam_zf-MYND,PatternScan_ZF_MYND_1 TMEM67 91147 genome.wustl.edu 37 8 94793184 94793184 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153704.5 +1 reviewed p.N318H 0.998 243 0% 148 14.2% - - possibly_damaging(0.835) tolerated(0.13) deleterious(0.571) HMMPfam_Meckelin TMEM67 91147 genome.wustl.edu 37 8 94807651 94807651 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153704.5 +1 reviewed p.F563L 1.000 678 0% 525 19.8% - - possibly_damaging(0.882) tolerated(0.68) neutral(0.346) HMMPfam_Meckelin TMEM67 91147 genome.wustl.edu 37 8 94815880 94815880 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153704.5 +1 reviewed p.R764* 1.000 681 0% 424 52.4% - - - - - HMMPfam_Meckelin TMEM67 91147 genome.wustl.edu 37 8 94821366 94821366 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153704.5 +1 reviewed p.F880V 1.000 284 0% 184 20.7% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Meckelin TMEM67 91147 genome.wustl.edu 37 8 94822105 94822105 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153704.5 +1 reviewed p.I918 1.000 117 0% 65 16.9% - - - - - HMMPfam_Meckelin PDP1 54704 genome.wustl.edu 37 8 94935416 94935416 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018444.3 +1 reviewed p.N377H 1.000 206 0% 211 53.6% - - benign(0.003) tolerated(0.24) neutral(0.037) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C RAD54B 25788 genome.wustl.edu 37 8 95404057 95404057 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012415.2 -1 reviewed p.R530I 1.000 261 0.4% 131 51.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF2_N RAD54B 25788 genome.wustl.edu 37 8 95423537 95423537 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012415.2 -1 reviewed p.S104L 0.000 177 0% 130 32.3% - - benign(0) tolerated(0.2) neutral(0.049) NULL KIAA1429 25962 genome.wustl.edu 37 8 95508603 95508603 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015496.3 -1 validated p.E1446* 1.000 293 0% 252 21.8% - - - - - NULL KIAA1429 25962 genome.wustl.edu 37 8 95531528 95531528 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015496.3 -1 validated p.R733Q 1.000 123 0.8% 97 28.9% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL KIAA1429 25962 genome.wustl.edu 37 8 95541372 95541372 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015496.3 -1 validated p.R269Q 0.448 1508 0.1% 1435 23.1% - - benign(0.023) tolerated(0.37) neutral(0.020) NULL ESRP1 54845 genome.wustl.edu 37 8 95658453 95658453 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017697.3 +1 validated p.K145E 1.000 364 0% 259 32% - - benign(0.008) tolerated(0.16) neutral(0.059) NULL INTS8 55656 genome.wustl.edu 37 8 95844359 95844359 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017864.2 +1 provisional p.S237Y 0.949 123 0% 93 15.1% - - benign(0.395) deleterious(0.03) deleterious(0.491) NULL CPQ 10404 genome.wustl.edu 37 8 97892143 97892143 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016134.2 +1 provisional p.V253 1.000 156 0% 119 44.5% - - - - - superfamily_SSF53187 TSPYL5 85453 genome.wustl.edu 37 8 98290062 98290062 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033512.2 -1 validated p.R4Q 0.986 7 0.000 14 0.643 - - unknown(0) tolerated(0.23) - NULL MTDH 92140 genome.wustl.edu 37 8 98735208 98735208 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178812.3 +1 validated p.Q541H 1.000 358 0% 240 57.5% - - probably_damaging(0.98) deleterious(0.03) deleterious(0.788) NULL MATN2 4147 genome.wustl.edu 37 8 98943234 98943234 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002380.3 +1 reviewed p.R66C 1.000 128 0% 113 27.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like C8orf47 203111 genome.wustl.edu 37 8 99101554 99101554 + Missense_Mutation SNP G G T rs35339824 byCluster;byFrequency TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173549.2 +1 validated p.K103N 0.000 154 0% 94 50% - - possibly_damaging(0.45) tolerated(0.31) neutral(0.174) NULL POP1 10940 genome.wustl.edu 37 8 99140663 99140663 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015029.2 +1 reviewed p.S127 0.125 205 0% 170 14.1% - - - - - HMMPfam_POP1 POP1 10940 genome.wustl.edu 37 8 99146261 99146261 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015029.2 +1 reviewed p.T274A 0.982 593 0% 318 48.7% - - benign(0.014) tolerated(0.7) neutral(0.003) NULL POP1 10940 genome.wustl.edu 37 8 99146748 99146748 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015029.2 +1 reviewed p.S291N 0.430 336 0% 253 25.3% - - probably_damaging(0.998) tolerated(0.21) deleterious(0.518) NULL POP1 10940 genome.wustl.edu 37 8 99153060 99153060 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015029.2 +1 reviewed p.R513Q 1.000 284 0% 127 49.6% - - possibly_damaging(0.661) deleterious(0) deleterious(0.678) NULL KCNS2 3788 genome.wustl.edu 37 8 99440652 99440652 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020697.2 +1 provisional p.D149N 1.000 134 0% 122 27.9% - - probably_damaging(0.998) tolerated(0.16) deleterious(0.534) NULL KCNS2 3788 genome.wustl.edu 37 8 99440997 99440997 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020697.2 +1 provisional p.D264N 1.000 563 0% 387 17.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels STK3 6788 genome.wustl.edu 37 8 99539125 99539125 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006281.2 -1 validated p.V388I 1.000 361 0% 237 57% - - benign(0) tolerated(0.43) neutral(0.013) NULL VPS13B 157680 genome.wustl.edu 37 8 100533144 100533144 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017890.3 +1 reviewed p.E1576* 1.000 201 0% 150 63.3% - - - - - NULL VPS13B 157680 genome.wustl.edu 37 8 100589745 100589745 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017890.3 +1 reviewed p.E1727* 1.000 388 0% 239 25.9% - - - - - NULL VPS13B 157680 genome.wustl.edu 37 8 100654224 100654224 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017890.3 +1 reviewed p.S1827 1.000 182 0% 133 55.6% - - - - - NULL VPS13B 157680 genome.wustl.edu 37 8 100836071 100836071 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017890.3 +1 reviewed p.F3090L 1.000 480 0% 313 53.7% - - probably_damaging(0.974) tolerated(0.82) neutral(0.416) NULL VPS13B 157680 genome.wustl.edu 37 8 100871602 100871602 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017890.3 +1 reviewed p.V3671 0.933 140 0% 141 28.4% - - - - - NULL RGS22 26166 genome.wustl.edu 37 8 101074919 101074919 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015668.3 -1 validated p.E472* 1.000 223 0% 174 28.7% - - - - - superfamily_Regulator of G-protein signaling RGS RGS22 26166 genome.wustl.edu 37 8 101075761 101075761 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015668.3 -1 validated p.R412I 1.000 527 0% 332 27.1% - - probably_damaging(0.995) tolerated(0.06) deleterious(0.780) superfamily_Regulator of G-protein signaling RGS RGS22 26166 genome.wustl.edu 37 8 101076173 101076173 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015668.3 -1 validated p.E275K 0.236 69 0% 41 26.8% - - possibly_damaging(0.791) tolerated(0.31) neutral(0.324) NULL RGS22 26166 genome.wustl.edu 37 8 101117607 101117607 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015668.3 -1 validated p.E17* 0.654 216 0% 140 22.1% - - - - - NULL FBXO43 286151 genome.wustl.edu 37 8 101153923 101153923 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001029860.2 -1 validated p.E187* 0.006 107 0% 65 56.9% - - - - - NULL SPAG1 6674 genome.wustl.edu 37 8 101251483 101251483 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003114.3 +1 reviewed p.L711V 0.033 247 0% 153 17.6% - - benign(0) tolerated(0.52) neutral(0.009) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_Protein prenylyltransferase SNX31 169166 genome.wustl.edu 37 8 101642567 101642567 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152628.3 -1 validated p.K103N 0.028 143 0% 80 12.5% - - probably_damaging(0.991) tolerated(0.15) deleterious(0.685) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain GRHL2 79977 genome.wustl.edu 37 8 102631782 102631782 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024915.3 +1 reviewed p.N372H 1.000 194 0% 161 53.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CP2 GRHL2 79977 genome.wustl.edu 37 8 102678858 102678858 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024915.3 +1 reviewed p.S602L 1.000 395 0% 298 19.1% - - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL RRM2B 50484 genome.wustl.edu 37 8 103244441 103244441 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015713.4 -1 reviewed p.I47T 1.000 253 0% 215 58.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ribonuc_red_sm,superfamily_Ferritin-like AZIN1 51582 genome.wustl.edu 37 8 103852020 103852020 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015878.4 -1 reviewed p.L45R 1.000 415 0% 330 10.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Orn_Arg_deC_N,superfamily_SSF51419 BAALC 79870 genome.wustl.edu 37 8 104225229 104225229 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024812.2 +1 reviewed p.T81 0.956 222 0% 102 38.2% - - - - - NULL CTHRC1 115908 genome.wustl.edu 37 8 104388142 104388142 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138455.2 +1 provisional p.C109 0.991 167 0% 98 14.3% - - - - - NULL CTHRC1 115908 genome.wustl.edu 37 8 104390437 104390437 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138455.2 +1 provisional p.M185I 1.000 264 0% 201 16.9% - - benign(0.003) tolerated(0.33) neutral(0.024) NULL RIMS2 9699 genome.wustl.edu 37 8 104948915 104948915 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001100117.1 +1 validated p.R838C 1.000 185 0% 100 25% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) DPYS 1807 genome.wustl.edu 37 8 105479112 105479112 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001385.2 -1 reviewed p.R13C 0.851 7 0.000 8 0.625 - - benign(0.01) deleterious(0.02) neutral(0.384) superfamily_Metalo_hydrolase ZFPM2 23414 genome.wustl.edu 37 8 106815197 106815197 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012082.3 +1 reviewed p.L963I 1.000 97 0% 70 27.1% - - benign(0.273) tolerated(0.2) neutral(0.078) NULL ZFPM2 23414 genome.wustl.edu 37 8 106815651 106815651 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012082.3 +1 reviewed p.A1114V 1.000 134 0% 116 29.3% - - possibly_damaging(0.602) tolerated(0.29) neutral(0.237) superfamily_C2H2 and C2HC zinc fingers OXR1 55074 genome.wustl.edu 37 8 107726115 107726115 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018002.2 +1 validated p.E620K 1.000 273 0% 154 13.6% - - probably_damaging(0.954) tolerated(0.5) neutral(0.408) NULL ABRA 137735 genome.wustl.edu 37 8 107782308 107782308 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139166.4 -1 validated p.A37 0.000 204 0% 198 21.7% - - - - - NULL PKHD1L1 93035 genome.wustl.edu 37 8 110393706 110393706 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_177531.4 +1 validated p.D91Y 1.000 192 0% 152 23% - - possibly_damaging(0.701) deleterious(0.01) deleterious(0.657) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains PKHD1L1 93035 genome.wustl.edu 37 8 110408291 110408291 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_177531.4 +1 validated p.R283* 0.025 458 0% 245 53.5% - - - - - HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains PKHD1L1 93035 genome.wustl.edu 37 8 110457710 110457710 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_177531.4 +1 validated p.Q1871P 0.917 144 0% 150 31.3% - - benign(0.001) tolerated(0.28) neutral(0.032) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains PKHD1L1 93035 genome.wustl.edu 37 8 110465058 110465058 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_177531.4 +1 validated p.L2207M 0.993 275 0% 170 34.7% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_G8 PKHD1L1 93035 genome.wustl.edu 37 8 110539060 110539060 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_177531.4 +1 validated p.E4178* 0.992 160 0% 134 45.5% - - - - - NULL CSMD3 114788 genome.wustl.edu 37 8 113243857 113243857 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198123.1 -1 validated p.S3582F 1.000 200 0% 105 56.2% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL CSMD3 114788 genome.wustl.edu 37 8 113314116 113314116 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198123.1 -1 validated p.I2782 0.994 417 0% 185 51.4% - - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113348926 113348926 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198123.1 -1 validated p.F2325C 1.000 174 0% 111 52.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113569157 113569157 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198123.1 -1 validated p.P1357T 1.000 180 0% 122 29.5% - - probably_damaging(0.996) tolerated(0.12) deleterious(0.722) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 114290898 114290898 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198123.1 -1 validated p.S146I 1.000 253 0% 122 27% - - unknown(0) deleterious(0) - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain TRPS1 7227 genome.wustl.edu 37 8 116617112 116617112 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014112.2 -1 reviewed p.E362K 1.000 422 0.2% 282 51.4% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMSmart_ZnF_C2H2 TRPS1 7227 genome.wustl.edu 37 8 116632180 116632180 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014112.2 -1 reviewed p.E49* 1.000 286 0% 214 26.6% - - - - - NULL UTP23 84294 genome.wustl.edu 37 8 117782508 117782508 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032334.2 +1 validated p.R89Q 1.000 280 0% 155 53.5% - - possibly_damaging(0.91) tolerated(0.36) neutral(0.383) HMMPfam_Fcf1,superfamily_SSF88723 UTP23 84294 genome.wustl.edu 37 8 117782535 117782535 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032334.2 +1 validated p.V98A 1.000 275 0% 140 26.4% - - benign(0.345) tolerated(0.12) neutral(0.369) HMMPfam_Fcf1,superfamily_SSF88723 RAD21 5885 genome.wustl.edu 37 8 117868976 117868976 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006265.2 -1 reviewed p.I241 0.982 172 0% 141 19.9% - - - - - NULL RAD21 5885 genome.wustl.edu 37 8 117869554 117869554 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006265.2 -1 reviewed p.Q214K 1.000 712 0% 489 51.5% - - benign(0.062) tolerated(0.92) neutral(0.004) NULL EXT1 2131 genome.wustl.edu 37 8 119122911 119122911 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000127.2 -1 reviewed p.E125D 1.000 206 0% 149 30.9% - - benign(0) tolerated(0.65) neutral(0.003) HMMPfam_Exostosin EXT1 2131 genome.wustl.edu 37 8 119123171 119123171 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000127.2 -1 reviewed p.E39K 1.000 102 0% 105 18.1% - - benign(0) tolerated(0.86) neutral(0.001) NULL COLEC10 10584 genome.wustl.edu 37 8 120079578 120079578 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006438.3 +1 reviewed p.L20I 1.000 232 0% 193 26.4% - - benign(0.388) tolerated(0.72) neutral(0.126) NULL ENPP2 5168 genome.wustl.edu 37 8 120602808 120602808 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006209.3 -1 reviewed p.D434Y 1.000 395 0% 228 47.8% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_Phosphodiest,superfamily_Alkaline phosphatase-like ENPP2 5168 genome.wustl.edu 37 8 120633709 120633709 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006209.3 -1 reviewed p.E115* 1.000 309 0% 239 25.9% - - - - - HMMPfam_Somatomedin_B,HMMSmart_SM00201,superfamily_Somatomedin B domain TAF2 6873 genome.wustl.edu 37 8 120795765 120795765 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003184.3 -1 reviewed p.E656D 1.000 214 0% 162 23.5% - - probably_damaging(1) tolerated(0.23) deleterious(0.541) NULL TAF2 6873 genome.wustl.edu 37 8 120795815 120795815 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003184.3 -1 reviewed p.V640L 1.000 213 0% 170 50% - - benign(0.14) tolerated(0.24) neutral(0.050) NULL DSCC1 79075 genome.wustl.edu 37 8 120847152 120847152 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024094.2 -1 validated p.S388L 1.000 269 0.4% 166 11.4% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL DSCC1 79075 genome.wustl.edu 37 8 120850621 120850621 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024094.2 -1 validated p.S317 0.855 224 0% 173 49.1% - - - - - HMMPfam_DUF2036 COL14A1 7373 genome.wustl.edu 37 8 121216030 121216030 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021110.1 +1 validated p.F320 0.990 245 0% 193 23.8% - - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL14A1 7373 genome.wustl.edu 37 8 121295903 121295903 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021110.1 +1 validated p.D1285N 1.000 332 0% 236 28.8% - - probably_damaging(1) - - HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases COL14A1 7373 genome.wustl.edu 37 8 121344960 121344960 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021110.1 +1 validated p.A1591T 0.997 341 0% 249 23.7% - - benign(0) - - HMMPfam_Collagen SNTB1 6641 genome.wustl.edu 37 8 121554073 121554073 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021021.3 -1 reviewed p.F501V 1.000 299 0% 185 33% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZHX2 22882 genome.wustl.edu 37 8 123963944 123963944 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014943.3 +1 reviewed p.S65F 0.286 173 0% 92 51.1% - - possibly_damaging(0.924) deleterious(0.05) deleterious(0.718) NULL ZHX2 22882 genome.wustl.edu 37 8 123964287 123964287 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014943.3 +1 reviewed p.I179 0.937 196 0% 136 31.6% - - - - - NULL ZHX2 22882 genome.wustl.edu 37 8 123965670 123965670 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014943.3 +1 reviewed p.V640 0.789 125 0% 95 32.6% - - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like ZHX2 22882 genome.wustl.edu 37 8 123965866 123965866 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014943.3 +1 reviewed p.D706Y 0.071 107 0% 101 15.8% - - possibly_damaging(0.66) deleterious(0.03) deleterious(0.598) NULL WDR67 93594 genome.wustl.edu 37 8 124146429 124146429 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145647.3 +1 validated p.K828Q 0.913 237 0% 104 16.3% - - possibly_damaging(0.885) tolerated(0.23) neutral(0.387) NULL ATAD2 29028 genome.wustl.edu 37 8 124358399 124358399 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014109.3 -1 reviewed p.F820C 1.000 203 0% 145 51.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases ATAD2 29028 genome.wustl.edu 37 8 124358483 124358483 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014109.3 -1 reviewed p.R792Q 1.000 181 0% 119 55.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_P-loop containing nucleoside triphosphate hydrolases ATAD2 29028 genome.wustl.edu 37 8 124358984 124358984 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014109.3 -1 reviewed p.S740Y 1.000 73 0% 51 58.8% - - benign(0.001) tolerated(0.06) neutral(0.323) NULL ATAD2 29028 genome.wustl.edu 37 8 124359507 124359507 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014109.3 -1 reviewed p.F679 0.969 229 0% 189 27% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ATAD2 29028 genome.wustl.edu 37 8 124360510 124360510 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014109.3 -1 reviewed p.R604* 1.000 140 0% 102 54.9% - - - - - HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases ATAD2 29028 genome.wustl.edu 37 8 124373798 124373798 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014109.3 -1 reviewed p.R380C 1.000 253 0% 188 50% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL FAM91A1 157769 genome.wustl.edu 37 8 124798809 124798809 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144963.2 +1 validated p.S346* 1.000 239 0% 116 27.6% - - - - - NULL FER1L6 654463 genome.wustl.edu 37 8 125072944 125072944 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039112.2 +1 validated p.F1047 0.494 274 0% 214 51.9% - - - - - HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) TATDN1 83940 genome.wustl.edu 37 8 125528140 125528140 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032026.3 -1 validated p.E112* 1.000 296 0% 245 29.4% - - - - - HMMPfam_TatD_DNase,superfamily_Metallo-dependent hydrolases MTSS1 9788 genome.wustl.edu 37 8 125716411 125716411 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014751.4 -1 validated p.D32Y 1.000 354 0% 258 48.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IMD SQLE 6713 genome.wustl.edu 37 8 126015523 126015523 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003129.3 +1 reviewed p.V133M 0.982 361 0% 313 26.8% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_DAO,superfamily_SSF51905 KIAA0196 9897 genome.wustl.edu 37 8 126059561 126059561 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014846.3 -1 reviewed p.Q798* 1.000 155 0% 139 25.9% - - - - - HMMPfam_Strumpellin TRIB1 10221 genome.wustl.edu 37 8 126445831 126445831 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025195.2 +1 validated p.F211 0.996 36 0% 28 60.7% - - - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) MYC 4609 genome.wustl.edu 37 8 128753006 128753006 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002467.4 +1 reviewed p.F389L 1.000 136 0% 96 27.1% - - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain GSDMC 56169 genome.wustl.edu 37 8 130788448 130788448 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031415.2 -1 validated p.E102* 0.000 480 0% 382 11.8% - - - - - HMMPfam_Gasdermin GSDMC 56169 genome.wustl.edu 37 8 130789711 130789711 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031415.2 -1 validated p.K41 0.003 384 0% 279 57.3% - - - - - HMMPfam_Gasdermin GSDMC 56169 genome.wustl.edu 37 8 130789715 130789715 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031415.2 -1 validated p.R40Q 0.000 392 0% 284 27.5% - - possibly_damaging(0.599) tolerated(0.58) neutral(0.212) HMMPfam_Gasdermin FAM49B 51571 genome.wustl.edu 37 8 130874503 130874503 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000311292 -1 known p.E47* 1.000 234 0% 115 30.4% - - - - - HMMPfam_DUF1394 ADCY8 114 genome.wustl.edu 37 8 131792811 131792811 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001115.2 -1 reviewed p.A1194V 0.998 495 0% 363 51.2% - - probably_damaging(0.953) deleterious(0.01) deleterious(0.802) NULL EFR3A 23167 genome.wustl.edu 37 8 132982785 132982785 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015137.3 +1 validated p.E352K 1.000 244 0% 145 21.4% - - benign(0.424) tolerated(0.08) neutral(0.438) superfamily_ARM repeat LRRC6 23639 genome.wustl.edu 37 8 133627318 133627318 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012472.3 -1 provisional p.E314K 1.000 173 0% 99 49.5% - - probably_damaging(0.987) tolerated(0.12) deleterious(0.697) NULL TMEM71 137835 genome.wustl.edu 37 8 133740221 133740221 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144649.2 -1 validated p.D148N 0.000 110 0% 98 21.4% - - benign(0.29) deleterious(0.02) deleterious(0.473) NULL PHF20L1 51105 genome.wustl.edu 37 8 133806667 133806667 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016018.4 +1 validated p.R32Q 1.000 271 0% 157 21.7% - - probably_damaging(0.988) deleterious(0.03) deleterious(0.802) HMMSmart_SM00333,HMMSmart_SM00743,superfamily_Tudor/PWWP/MBT PHF20L1 51105 genome.wustl.edu 37 8 133854869 133854869 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016018.4 +1 validated p.R833* 0.000 182 0% 97 27.8% - - - - - NULL SLA 6503 genome.wustl.edu 37 8 134072408 134072408 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006748.3 -1 validated p.E40* 0.001 271 0% 183 43.7% - - - - - NULL TG 7038 genome.wustl.edu 37 8 134108557 134108557 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003235.4 +1 reviewed p.V2504 0.629 220 0% 167 18.6% - - - - - HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases FAM135B 51059 genome.wustl.edu 37 8 139151323 139151323 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015912.3 -1 validated p.Q1269H 1.000 299 0% 211 48.3% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_DUF676,superfamily_alpha/beta-Hydrolases FAM135B 51059 genome.wustl.edu 37 8 139164855 139164855 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015912.3 -1 validated p.G621 0.000 375 0% 326 23.3% - - - - - NULL FAM135B 51059 genome.wustl.edu 37 8 139255227 139255227 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015912.3 -1 validated p.N209K 1.000 199 0% 103 45.6% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL COL22A1 169044 genome.wustl.edu 37 8 139728482 139728482 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000341807 -1 known p.E66* 1.000 150 0% 128 50.8% - - benign(0.272) tolerated(0.63) neutral(0.033) HMMPfam_Collagen COL22A1 169044 genome.wustl.edu 37 8 139825227 139825227 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152888.1 -1 validated p.S427 0.126 277 0% 197 51.8% - - - - - HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases EIF2C2 27161 genome.wustl.edu 37 8 141545600 141545600 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012154.3 -1 reviewed p.S739L 1.000 260 0% 223 25.1% - - - - - NULL DENND3 22898 genome.wustl.edu 37 8 142186774 142186774 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014957.2 +1 validated p.E794K 1.000 284 0% 189 51.9% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL SLC45A4 57210 genome.wustl.edu 37 8 142221695 142221695 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080431.1 -1 provisional p.S748Y 0.000 38 0% 18 38.9% - - unknown(0) - - NULL GPR20 2843 genome.wustl.edu 37 8 142367782 142367782 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005293.2 -1 validated p.R81H 1.000 64 0% 57 33.3% - - possibly_damaging(0.922) tolerated(0.12) deleterious(0.632) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FLJ43860 389690 genome.wustl.edu 37 8 142444698 142444698 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207414.2 -1 validated p.A1270V 0.833 188 0% 130 51.5% - - possibly_damaging(0.888) tolerated(0.05) deleterious(0.693) superfamily_ARM repeat TSNARE1 203062 genome.wustl.edu 37 8 143395784 143395784 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145003.3 -1 validated p.S364 1.000 220 0% 204 21.1% - - - - - superfamily_t-snare BAI1 575 genome.wustl.edu 37 8 143614791 143614791 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001702.2 +1 reviewed p.F1178 0.750 40 0% 45 28.9% - - unknown(0) - - HMMPfam_7tm_2 LOC100289310 100289310 genome.wustl.edu 37 8 143783070 143783070 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342870.1 -1 model p.R14Q 0.000 367 0% 299 51.8% - - - - - NULL TOP1MT 116447 genome.wustl.edu 37 8 144413418 144413418 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052963.1 -1 reviewed p.D72N 0.007 102 1% 74 28.4% - - benign(0.081) deleterious(0.03) neutral(0.370) HMMPfam_Topoisom_I_N,superfamily_TopoI_DNA_bd_euk RHPN1 114822 genome.wustl.edu 37 8 144463817 144463817 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052924.2 +1 validated p.G522S 0.996 45 0% 52 53.8% - - benign(0.086) tolerated(0.34) neutral(0.029) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ ZNF623 9831 genome.wustl.edu 37 8 144733336 144733336 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014789.3 +1 validated p.E432K 0.025 165 0% 177 10.2% - - probably_damaging(0.99) tolerated(0.75) neutral(0.443) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF707 286075 genome.wustl.edu 37 8 144773802 144773802 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001100598.1 +1 validated p.R59C 0.000 157 0% 119 16.8% - - possibly_damaging(0.468) tolerated(0.06) deleterious(0.476) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) EPPK1 83481 genome.wustl.edu 37 8 144940517 144940517 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031308.1 -1 validated p.S2302L 1.000 191 0% 240 11.3% - - probably_damaging(0.999) tolerated(0.25) deleterious(0.527) HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat EPPK1 83481 genome.wustl.edu 37 8 144941464 144941464 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031308.1 -1 validated p.T1986 0.000 81 0% 92 46.7% - - - - - HMMSmart_SM00250,superfamily_Plakin repeat PLEC 5339 genome.wustl.edu 37 8 144997578 144997578 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_201380.2 -1 reviewed p.F2310 0.486 15 0% 23 56.5% - - - - - NULL PLEC 5339 genome.wustl.edu 37 8 144998374 144998374 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_201380.2 -1 reviewed p.R2045Q 1.000 21 0% 28 67.9% - - unknown(0) - - NULL SPATC1 375686 genome.wustl.edu 37 8 145094857 145094857 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198572.2 +1 validated p.E87K 0.295 103 0% 95 50.5% - - possibly_damaging(0.481) deleterious(0.04) deleterious(0.508) NULL OPLAH 26873 genome.wustl.edu 37 8 145111871 145111871 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000426825 -1 known p.L562 1.000 34 0% 40 30% - - - - - NULL HEATR7A 727957 genome.wustl.edu 37 8 145235127 145235127 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032450.2 +1 provisional p.A116V 0.998 180 0% 164 14% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM repeat HEATR7A 727957 genome.wustl.edu 37 8 145246714 145246714 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032450.2 +1 provisional p.L271F 0.268 71 0% 75 16% - - probably_damaging(0.958) deleterious(0.02) deleterious(0.784) superfamily_ARM repeat CPSF1 29894 genome.wustl.edu 37 8 145623170 145623170 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013291.2 -1 validated p.H691R 0.965 27 0% 27 48.1% - - benign(0.003) tolerated(0.58) neutral(0.005) NULL CPSF1 29894 genome.wustl.edu 37 8 145626927 145626927 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013291.2 -1 validated p.L68P 1.000 114 0% 131 45.8% - - possibly_damaging(0.946) deleterious(0.02) deleterious(0.773) NULL ZNF7 7553 genome.wustl.edu 37 8 146067239 146067239 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003416.2 +1 validated p.P249 0.000 98 0% 98 28.6% - - - - - superfamily_SSF57667 ZNF7 7553 genome.wustl.edu 37 8 146067243 146067243 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003416.2 +1 validated p.E251K 0.000 100 1% 101 58.4% - - benign(0.006) tolerated(1) - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF7 7553 genome.wustl.edu 37 8 146067469 146067469 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003416.2 +1 validated p.R326I 0.995 164 0% 128 51.6% - - probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FOXD4 2298 genome.wustl.edu 37 9 117146 117146 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207305.3 -1 validated p.V325A 0.994 174 0% 125 24.8% - - benign(0.099) tolerated(1) neutral(0.007) NULL CBWD1 55871 genome.wustl.edu 37 9 154705 154705 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000377447 -1 known p.Y222 0.237 203 0% 67 23.9% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DOCK8 81704 genome.wustl.edu 37 9 271719 271719 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000453981 +1 known p.S49Y 1.000 442 0% 196 12.2% - - possibly_damaging(0.609) tolerated(0.45) neutral(0.223) NULL DOCK8 81704 genome.wustl.edu 37 9 379883 379883 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_203447.3 +1 reviewed p.Y783 0.977 113 0% 96 37.5% - - - - - NULL DOCK8 81704 genome.wustl.edu 37 9 429720 429720 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_203447.3 +1 reviewed p.E1430K 1.000 208 0.5% 96 31.2% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL VLDLR 7436 genome.wustl.edu 37 9 2639887 2639887 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003383.3 +1 reviewed p.F77 0.998 267 0% 183 23% - - - - - HMMPfam_Ldl_recept_a,HMMSmart_SM00192,superfamily_LDL receptor-like module,HMMSmart_SM00181 KIAA0020 9933 genome.wustl.edu 37 9 2810431 2810431 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014878.4 -1 validated p.L546F 1.000 521 0% 305 36.4% - - benign(0.003) tolerated(0.12) neutral(0.261) HMMPfam_CPL KIAA0020 9933 genome.wustl.edu 37 9 2829887 2829887 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014878.4 -1 validated p.R247W 1.000 327 0% 149 26.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00025,superfamily_ARM repeat GLIS3-AS1 84850 genome.wustl.edu 37 9 3898658 3898658 + RNA SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_026663.1 +1 validated NULL 0.000 58 0% 23 43.5% - - - - - - SLC1A1 6505 genome.wustl.edu 37 9 4573931 4573931 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000422398 +1 known p.P27S 1.000 407 0% 232 32.3% - - - - - HMMPfam_SDF C9orf68 55064 genome.wustl.edu 37 9 4625553 4625553 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039395.3 -1 validated p.E148A 0.001 105 0% 50 48% - - - - - NULL JAK2 3717 genome.wustl.edu 37 9 5054768 5054768 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004972.3 +1 reviewed p.E274* 1.000 257 0% 97 36.1% - - - - - NULL JAK2 3717 genome.wustl.edu 37 9 5055687 5055687 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004972.3 +1 reviewed p.D319N 1.000 276 0% 97 38.1% - - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL JAK2 3717 genome.wustl.edu 37 9 5072585 5072585 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004972.3 +1 reviewed p.L579I 1.000 195 0% 76 28.9% - - benign(0.087) tolerated(0.42) neutral(0.021) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like JAK2 3717 genome.wustl.edu 37 9 5090886 5090886 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004972.3 +1 reviewed p.E1012* 1.000 162 0% 60 38.3% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like KIAA1432 57589 genome.wustl.edu 37 9 5743733 5743733 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020829.2 +1 validated p.S285Y 1.000 367 0% 138 35.5% - - probably_damaging(0.955) deleterious(0) deleterious(0.843) superfamily_Amine_DH_B_like KIAA1432 57589 genome.wustl.edu 37 9 5747464 5747464 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020829.2 +1 validated p.L392V 1.000 282 0% 167 32.9% - - possibly_damaging(0.633) tolerated(0.32) neutral(0.245) superfamily_Amine_DH_B_like KIAA2026 158358 genome.wustl.edu 37 9 5922814 5922814 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017969.2 -1 validated p.P1061L 1.000 406 0% 214 39.3% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL KIAA2026 158358 genome.wustl.edu 37 9 5944872 5944872 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017969.2 -1 validated p.S794L 1.000 575 0% 327 27.8% - - possibly_damaging(0.767) - - NULL KIAA2026 158358 genome.wustl.edu 37 9 5968511 5968511 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017969.2 -1 validated p.R574C 0.409 224 0% 144 33.3% - - benign(0.006) deleterious(0.03) neutral(0.364) NULL RANBP6 26953 genome.wustl.edu 37 9 6012213 6012213 + RNA SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_024094.1 -1 validated NULL 0.015 32 0% 16 50% - - - - - - RANBP6 26953 genome.wustl.edu 37 9 6012489 6012489 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012416.2 -1 validated p.N1040T 1.000 363 0% 192 38.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RANBP6 26953 genome.wustl.edu 37 9 6012759 6012759 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012416.2 -1 validated p.S950Y 1.000 277 0.4% 176 43.2% - - benign(0.119) tolerated(0.2) neutral(0.059) NULL LOC645969 645969 genome.wustl.edu 37 9 6278792 6278792 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342907.1 +1 model p.E16D 1.000 430 0.2% 283 16.3% - - - - - HMMPfam_SelT UHRF2 115426 genome.wustl.edu 37 9 6504624 6504624 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152896.1 +1 reviewed p.M732T 1.000 278 0% 183 41% - - possibly_damaging(0.784) tolerated(0.57) neutral(0.299) superfamily_RING/U-box GLDC 2731 genome.wustl.edu 37 9 6602147 6602147 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000170.2 -1 reviewed p.R373W 1.000 344 0% 239 38.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_GDC-P KDM4C 23081 genome.wustl.edu 37 9 7011780 7011780 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015061.3 +1 reviewed p.T623 0.018 177 0% 111 38.7% - - - - - NULL PTPRD 5789 genome.wustl.edu 37 9 8528768 8528768 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002839.3 -1 reviewed p.P122T 1.000 90 0% 68 27.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Immunoglobulin TYRP1 7306 genome.wustl.edu 37 9 12702394 12702394 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000550.2 +1 reviewed p.P346H 1.000 312 0.3% 148 38.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tyrosinase,superfamily_Di-copper_centre MPDZ 8777 genome.wustl.edu 37 9 13110679 13110679 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003829.3 -1 validated p.A1900T 1.000 248 0% 145 20% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like MPDZ 8777 genome.wustl.edu 37 9 13217245 13217245 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003829.3 -1 validated p.E379* 1.000 315 0% 111 28.8% - - - - - HMMPfam_PDZ,superfamily_PDZ domain-like TTC39B 158219 genome.wustl.edu 37 9 15186968 15186968 + Silent SNP C C T rs192525613 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152574.2 -1 validated p.T421 0.666 354 0% 208 33.7% - - - - - HMMPfam_Deme6,superfamily_TPR-like TTC39B 158219 genome.wustl.edu 37 9 15211275 15211275 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152574.2 -1 validated p.Q135H 0.980 239 0% 145 30.3% - - probably_damaging(0.998) tolerated(0.15) deleterious(0.716) HMMPfam_Deme6 PSIP1 11168 genome.wustl.edu 37 9 15474045 15474045 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128217.1 -1 validated p.D274N 1.000 503 0% 228 16.7% - - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) NULL PSIP1 11168 genome.wustl.edu 37 9 15506559 15506559 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128217.1 -1 validated p.T50I 1.000 434 0% 230 35.2% - - benign(0.232) deleterious(0.02) neutral(0.406) HMMPfam_PWWP,HMMSmart_SM00293,superfamily_Tudor/PWWP/MBT C9orf93 203238 genome.wustl.edu 37 9 15591504 15591504 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173550.2 +1 predicted p.E165* 0.926 159 0% 80 46.3% - - - - - NULL C9orf93 203238 genome.wustl.edu 37 9 15920350 15920350 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173550.2 +1 predicted p.R1228Q 1.000 291 0.7% 128 30.5% - - benign(0.142) deleterious(0.02) neutral(0.395) NULL BNC2 54796 genome.wustl.edu 37 9 16435690 16435690 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017637.5 -1 validated p.I834 1.000 193 0% 115 37.4% - - - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers BNC2 54796 genome.wustl.edu 37 9 16436742 16436742 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017637.5 -1 validated p.R484* 1.000 299 0% 164 26.2% - - - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SH3GL2 6456 genome.wustl.edu 37 9 17789460 17789460 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003026.2 +1 validated p.P179L 1.000 265 0% 143 41.3% - - possibly_damaging(0.885) deleterious(0.01) deleterious(0.752) HMMPfam_BAR,HMMSmart_SM00721 ADAMTSL1 92949 genome.wustl.edu 37 9 18889697 18889697 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040272.4 +1 validated p.R1532C 0.951 41 0% 21 42.9% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat RRAGA 10670 genome.wustl.edu 37 9 19050115 19050115 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006570.4 +1 validated p.R153H 1.000 146 0% 108 31.5% - - possibly_damaging(0.546) tolerated(0.13) neutral(0.438) HMMPfam_Gtr1_RagA,superfamily_P-loop containing nucleoside triphosphate hydrolases HAUS6 54801 genome.wustl.edu 37 9 19058433 19058433 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017645.3 -1 provisional p.E778K 1.000 116 0% 67 32.8% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL HAUS6 54801 genome.wustl.edu 37 9 19058868 19058868 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017645.3 -1 provisional p.E633* 0.077 328 0% 181 38.1% - - - - - NULL DENND4C 55667 genome.wustl.edu 37 9 19324397 19324397 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017925.4 +1 provisional p.F379 1.000 169 0% 92 42.4% - - - - - HMMPfam_dDENN,HMMSmart_SM00801 RPS6 6194 genome.wustl.edu 37 9 19379552 19379552 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010.2 -1 reviewed p.L24H 1.000 186 0% 117 15.4% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_Ribosomal_S6e KIAA1797 54914 genome.wustl.edu 37 9 20982419 20982419 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017794.3 +1 validated p.A1568T 0.166 337 0% 140 35% - - benign(0.004) tolerated(0.06) neutral(0.323) NULL IFNA4 3441 genome.wustl.edu 37 9 21187348 21187348 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021068.2 -1 validated p.F61 0.120 373 0.3% 226 37.2% - - - - - HMMPfam_Interferon,HMMSmart_IFabd,superfamily_4_helix_cytokine IFNA16 3449 genome.wustl.edu 37 9 21216966 21216966 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002173.2 -1 provisional p.F113L 0.000 460 0% 297 36.7% - - benign(0.064) tolerated(0.07) neutral(0.323) HMMPfam_Interferon,HMMSmart_SM00076,superfamily_4-helical cytokines IFNA2 3440 genome.wustl.edu 37 9 21385308 21385308 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000605.3 -1 validated p.L7 0.000 288 0% 147 27.2% - - - - - HMMPfam_Interferon IFNA1 3439 genome.wustl.edu 37 9 21440598 21440598 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024013.1 +1 validated p.S31N 0.000 298 0% 208 31.7% - - benign(0.003) tolerated(0.7) neutral(0.002) HMMPfam_Interferon,superfamily_4_helix_cytokine MTAP 4507 genome.wustl.edu 37 9 21854706 21854706 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002451.3 +1 reviewed p.R176H 1.000 108 0% 76 28.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PNP_UDP_1,superfamily_Purine and uridine phosphorylases C9orf82 79886 genome.wustl.edu 37 9 26887349 26887349 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024828.3 -1 validated p.E156* 1.000 95 0% 62 25.8% - - - - - NULL PLAA 9373 genome.wustl.edu 37 9 26905751 26905751 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031689.2 -1 validated p.D716N 1.000 351 0.3% 220 32.7% - - benign(0) tolerated(0.61) neutral(0.004) HMMPfam_PUL,superfamily_ARM-type_fold TEK 7010 genome.wustl.edu 37 9 27158079 27158079 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000459.3 +1 reviewed p.F101L 1.000 364 0% 167 34.7% - - benign(0.125) tolerated(0.46) neutral(0.022) HMMPfam_Ig_Tie2_1 TEK 7010 genome.wustl.edu 37 9 27192537 27192537 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000459.3 +1 reviewed p.E514* 0.934 156 0% 91 26.4% - - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like TEK 7010 genome.wustl.edu 37 9 27209162 27209162 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000459.3 +1 reviewed p.L873 1.000 289 0% 145 11% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like C9orf72 203228 genome.wustl.edu 37 9 27548594 27548594 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018325.2 -1 validated p.R407I 1.000 275 0.4% 108 31.5% - - probably_damaging(0.998) tolerated(0.11) deleterious(0.746) NULL LINGO2 158038 genome.wustl.edu 37 9 27950200 27950200 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152570.1 -1 provisional p.S157Y 0.996 159 0% 92 34.8% - - probably_damaging(0.982) tolerated(0.19) deleterious(0.476) HMMPfam_LRR_1,superfamily_SSF52058 LOC100288436 100288436 genome.wustl.edu 37 9 30558981 30558981 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342887.1 -1 model p.L153F 0.798 532 0% 274 22.3% - - - - - NULL LOC100288436 100288436 genome.wustl.edu 37 9 30559290 30559290 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342887.1 -1 model p.E50* 0.018 142 0% 79 12.7% - - - - - NULL ACO1 48 genome.wustl.edu 37 9 32424622 32424622 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002197.2 +1 reviewed p.S383A 1.000 264 0% 143 26.6% - - benign(0) tolerated(0.14) neutral(0.249) HMMPfam_Aconitase,superfamily_Aconitase iron-sulfur domain DDX58 23586 genome.wustl.edu 37 9 32488074 32488074 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014314.3 -1 reviewed p.P361S 0.992 481 0.2% 245 40.4% - - benign(0.01) tolerated(0.36) neutral(0.021) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases TOPORS 10210 genome.wustl.edu 37 9 32542651 32542651 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005802.3 -1 reviewed p.M624I 0.668 440 0% 262 34.7% - - unknown(0) tolerated(0.41) - NULL TOPORS 10210 genome.wustl.edu 37 9 32543483 32543483 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005802.3 -1 reviewed p.R347Q 0.999 128 0% 92 13% - - unknown(0) tolerated(0.05) - NULL TAF1L 138474 genome.wustl.edu 37 9 32630394 32630394 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153809.2 -1 provisional p.E1728D 0.999 377 0.3% 296 39.5% - - benign(0) tolerated(0.36) neutral(0.020) NULL TAF1L 138474 genome.wustl.edu 37 9 32633483 32633483 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153809.2 -1 provisional p.L699I 1.000 624 0% 366 35% - - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) NULL TAF1L 138474 genome.wustl.edu 37 9 32634993 32634993 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153809.2 -1 provisional p.L195 0.903 522 0% 310 37.1% - - - - - NULL APTX 54840 genome.wustl.edu 37 9 32973572 32973572 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175073.1 -1 reviewed p.R318H 0.956 100 0% 76 34.2% - - benign(0.028) deleterious(0.03) neutral(0.366) superfamily_HIT-like APTX 54840 genome.wustl.edu 37 9 32973608 32973608 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175073.1 -1 reviewed p.R306Q 0.318 86 0% 90 31.1% - - benign(0.177) deleterious(0.03) neutral(0.381) superfamily_HIT-like DNAJA1 3301 genome.wustl.edu 37 9 33036573 33036573 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001539.2 +1 validated p.R254* 1.000 120 0% 75 32% - - - - - HMMPfam_DnaJ_C,superfamily_HSP40/DnaJ peptide-binding domain NFX1 4799 genome.wustl.edu 37 9 33366637 33366637 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002504.3 +1 reviewed p.S1017I 0.021 115 0% 66 42.4% - - benign(0.03) deleterious(0.05) neutral(0.347) HMMPfam_R3H,HMMSmart_SM00393,superfamily_R3H domain ANKRD18B 441459 genome.wustl.edu 37 9 33566285 33566285 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001718334.2 +1 model p.E909D 0.012 181 0% 83 36.1% - - benign(0.414) tolerated(0.19) neutral(0.183) NULL TRBV25OR9-2 6960 genome.wustl.edu 37 9 33649389 33649389 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000399779 +1 known p.S43Y 0.009 259 0% 82 29.3% - - - - - HMMPfam_V-set,superfamily_SSF48726 DCAF12 25853 genome.wustl.edu 37 9 34088427 34088427 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015397.3 -1 reviewed p.S428L 1.000 267 0% 136 36% - - possibly_damaging(0.462) tolerated(0.42) neutral(0.166) NULL NUDT2 318 genome.wustl.edu 37 9 34339072 34339072 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001161.3 +1 reviewed p.R12Q 1.000 229 0% 200 36.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NUDIX,superfamily_NUDIX_hydrolase DNAI1 27019 genome.wustl.edu 37 9 34490013 34490013 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012144.2 +1 reviewed p.S131Y 1.000 152 0% 82 34.1% - - benign(0.013) tolerated(0.12) neutral(0.261) superfamily_WD40_like GALT 2592 genome.wustl.edu 37 9 34647491 34647491 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000155.2 +1 reviewed p.V85 0.954 300 0% 201 34.8% - - - - - HMMPfam_GalP_UDP_transf,superfamily_HIT-like GALT 2592 genome.wustl.edu 37 9 34649520 34649520 + Missense_Mutation SNP G G A rs111033806 byCluster TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000155.2 +1 reviewed p.E340K 1.000 187 0% 127 34.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GalP_UDP_tr_C,superfamily_HIT-like FAM205A 259308 genome.wustl.edu 37 9 34725699 34725699 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001141917.1 -1 validated p.F513C 0.021 55 0% 28 28.6% - - possibly_damaging(0.943) deleterious(0) deleterious(0.832) NULL UNC13B 10497 genome.wustl.edu 37 9 35396556 35396556 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006377.3 +1 reviewed p.R1049W 0.483 125 0% 74 41.9% - - possibly_damaging(0.912) deleterious(0.03) deleterious(0.728) NULL RUSC2 9853 genome.wustl.edu 37 9 35560514 35560514 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135999.1 +1 validated p.R1293C 0.998 112 0.9% 65 32.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TESK1 7016 genome.wustl.edu 37 9 35606073 35606073 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006285.2 +1 reviewed p.M104I 1.000 93 1.1% 70 35.7% - - benign(0.045) deleterious(0.04) neutral(0.351) superfamily_Kinase_like,HMMPfam_Pkinase SIT1 27240 genome.wustl.edu 37 9 35650039 35650039 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014450.2 -1 validated p.R133W 1.000 79 0% 71 32.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C9orf100 84904 genome.wustl.edu 37 9 35663302 35663302 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000378382 -1 known p.L187 0.000 248 0% 138 33.3% - - - - - HMMSmart_SM00325 RGP1 9827 genome.wustl.edu 37 9 35752849 35752849 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080496.1 +1 provisional p.S425N 1.000 55 0% 54 38.9% - - possibly_damaging(0.49) tolerated(0.06) deleterious(0.486) NULL NPR2 4882 genome.wustl.edu 37 9 35808830 35808830 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003995.3 +1 reviewed p.R989Q 1.000 328 0% 219 38.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,PatternScan_GUANYLATE_CYCLASE_1 OR2S2 56656 genome.wustl.edu 37 9 35957270 35957270 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019897.2 -1 provisional p.L276I 0.038 178 0% 112 12.5% - - benign(0.008) tolerated(0.62) neutral(0.004) HMMPfam_7tm_1,superfamily_SSF81321 CCIN 881 genome.wustl.edu 37 9 36170073 36170073 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005893.2 +1 reviewed p.L192F 1.000 102 0% 49 20.4% - - possibly_damaging(0.66) deleterious(0.02) deleterious(0.616) HMMPfam_BACK CCIN 881 genome.wustl.edu 37 9 36170537 36170537 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005893.2 +1 reviewed p.W346* 1.000 85 0% 91 37.4% - - - - - PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain MELK 9833 genome.wustl.edu 37 9 36581696 36581696 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014791.2 +1 provisional p.E6D 0.998 431 0.2% 231 33.3% - - benign(0.199) tolerated(0.23) neutral(0.060) superfamily_Kinase_like ZCCHC7 84186 genome.wustl.edu 37 9 37357032 37357032 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032226.2 +1 validated p.R467C 0.001 260 0% 91 34.1% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL ZBTB5 9925 genome.wustl.edu 37 9 37441344 37441344 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014872.2 -1 validated p.E402A 1.000 142 0% 86 22.1% - - benign(0.304) tolerated(0.32) neutral(0.118) NULL LOC647013 647013 genome.wustl.edu 37 9 37477389 37477389 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001726034.2 +1 model p.G82R 0.004 163 0% 94 45.7% - - - - - NULL LOC647013 647013 genome.wustl.edu 37 9 37477630 37477630 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001726034.2 +1 model p.G162D 1.000 179 0% 67 28.4% - - - - - HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain FBXO10 26267 genome.wustl.edu 37 9 37515996 37515996 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012166.2 -1 validated p.I867 1.000 673 0% 370 35.7% - - - - - superfamily_Pectin_lyas_like FBXO10 26267 genome.wustl.edu 37 9 37541343 37541343 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012166.2 -1 validated p.Y141 0.637 321 0% 174 11.5% - - - - - superfamily_Pectin_lyas_like FRMPD1 22844 genome.wustl.edu 37 9 37732429 37732429 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014907.2 +1 validated p.K329 1.000 79 0% 50 26% - - - - - HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 FRMPD1 22844 genome.wustl.edu 37 9 37733474 37733474 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014907.2 +1 validated p.D334Y 1.000 153 0% 78 29.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 FRMPD1 22844 genome.wustl.edu 37 9 37740134 37740134 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014907.2 +1 validated p.E537K 0.928 21 0% 29 27.6% - - possibly_damaging(0.946) tolerated(0.08) deleterious(0.690) NULL FRMPD1 22844 genome.wustl.edu 37 9 37740538 37740538 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014907.2 +1 validated p.K671N 0.992 85 0% 41 26.8% - - benign(0.002) deleterious(0.03) neutral(0.364) NULL FRMPD1 22844 genome.wustl.edu 37 9 37744805 37744805 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014907.2 +1 validated p.E926K 0.998 80 0% 68 36.8% - - probably_damaging(0.959) deleterious(0.01) deleterious(0.808) NULL MCART1 92014 genome.wustl.edu 37 9 37879095 37879095 + RNA SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_024872.1 -1 validated NULL 0.942 127 0% 72 11.1% - - - - - - C9orf51 647044 genome.wustl.edu 37 9 38527238 38527238 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000377689 +1 known p.N49D 0.003 36 0% 22 40.9% - - probably_damaging(0.981) tolerated(0.78) neutral(0.426) NULL C9orf51 647044 genome.wustl.edu 37 9 38527723 38527723 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000377689 +1 known p.L210F 0.005 116 0% 69 46.4% - - probably_damaging(0.998) tolerated(0.34) deleterious(0.497) NULL ANKRD18A 253650 genome.wustl.edu 37 9 38595542 38595542 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000399703 -1 known p.E599* 0.019 124 0% 47 17% - - - - - NULL ANKRD18A 253650 genome.wustl.edu 37 9 38603157 38603157 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000399703 -1 known p.K287N 0.070 151 0% 71 38% - - benign(0.113) tolerated(0.25) neutral(0.046) NULL ZNF658 26149 genome.wustl.edu 37 9 40773291 40773291 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033160.5 -1 validated p.E662* 0.018 398 0% 253 34.8% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers FAM75A6 389730 genome.wustl.edu 37 9 43626758 43626758 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145196.1 -1 predicted p.T643 0.000 60 0% 23 73.9% - - - - - NULL LOC389722 389722 genome.wustl.edu 37 9 43815842 43815842 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342910.1 +1 model p.K199T 0.836 239 0% 116 17.2% - - benign(0.111) tolerated(0.07) neutral(0.328) superfamily_Concanavalin A-like lectins/glucanases LOC100288765 100288765 genome.wustl.edu 37 9 69845902 69845902 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342925.1 +1 model p.E77D 0.187 119 0% 44 13.6% - - - - - NULL LOC100288765 100288765 genome.wustl.edu 37 9 69847060 69847060 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342925.1 +1 model p.R385I 1.000 40 0% 52 11.5% - - - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PIP5K1B 8395 genome.wustl.edu 37 9 71532621 71532621 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003558.2 +1 validated p.S310Y 1.000 210 0% 94 41.5% - - possibly_damaging(0.909) deleterious(0) deleterious(0.806) HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like SMC5 23137 genome.wustl.edu 37 9 72897383 72897383 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015110.3 +1 validated p.R289C 0.976 251 0% 73 23.3% - - benign(0.145) tolerated(0.11) neutral(0.284) HMMPfam_SMC_N,superfamily_SSF52540 TRPM3 80036 genome.wustl.edu 37 9 73151416 73151416 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001007471.2 -1 reviewed p.S1526F 1.000 441 0% 194 42.3% - - possibly_damaging(0.44) deleterious(0.01) deleterious(0.549) NULL TRPM3 80036 genome.wustl.edu 37 9 73213485 73213485 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000396280 -1 known p.R803W 0.012 112 0% 71 39.4% - - - - - HMMPfam_Ion_trans MIR204 406987 genome.wustl.edu 37 9 73424991 73424991 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000385200 -1 known NULL 1.000 183 0% 113 30.1% - - - - - - TRPM3 80036 genome.wustl.edu 37 9 73458034 73458034 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001007471.2 -1 reviewed p.R229H 0.996 155 0% 85 31.8% - - benign(0.036) tolerated(0.05) neutral(0.347) NULL TMEM2 23670 genome.wustl.edu 37 9 74360004 74360004 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013390.2 -1 validated p.L322I 1.000 186 0% 126 23% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMEM2 23670 genome.wustl.edu 37 9 74360309 74360309 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013390.2 -1 validated p.K220T 1.000 163 0% 118 35.6% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_G8 RORB 6096 genome.wustl.edu 37 9 77257643 77257643 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006914.3 +1 reviewed p.I183 1.000 40 2.5% 43 30.2% - - - - - NULL TRPM6 140803 genome.wustl.edu 37 9 77359094 77359094 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000361255 -1 known p.V1681A 0.979 354 0% 172 24.4% - - benign(0.25) tolerated(0.51) neutral(0.034) NULL TRPM6 140803 genome.wustl.edu 37 9 77407577 77407577 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017662.4 -1 reviewed p.F834C 1.000 372 0% 171 35.1% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL TRPM6 140803 genome.wustl.edu 37 9 77457139 77457139 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017662.4 -1 reviewed p.P91 0.984 535 0% 299 35.8% - - - - - NULL PCSK5 5125 genome.wustl.edu 37 9 78686647 78686647 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006200.3 +1 reviewed p.R243* 1.000 205 0.5% 106 38.7% - - - - - HMMPfam_Peptidase_S8,superfamily_Subtilisin-like PRUNE2 158471 genome.wustl.edu 37 9 79320911 79320911 + Silent SNP G G A rs138148457 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000426088 -1 known p.R1415* 1.000 230 0% 152 40.8% - - - - - NULL VPS13A 23230 genome.wustl.edu 37 9 79891080 79891080 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033305.2 +1 reviewed p.D923N 1.000 348 0% 164 23.2% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL VPS13A 23230 genome.wustl.edu 37 9 79954754 79954754 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033305.2 +1 reviewed p.R2234Q 1.000 157 0% 88 44.3% - - probably_damaging(1) tolerated(0.39) deleterious(0.516) HMMPfam_DUF1162 PSAT1 29968 genome.wustl.edu 37 9 80921233 80921233 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_058179.2 +1 reviewed p.I134T 1.000 228 0% 135 32.6% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases FAM75D1 389763 genome.wustl.edu 37 9 84607565 84607565 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001670.2 +1 validated p.R727K 0.000 380 0% 181 38.7% - - benign(0.001) tolerated(1) - NULL RASEF 158158 genome.wustl.edu 37 9 85615864 85615864 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152573.2 -1 provisional p.Q462* 0.995 123 0% 83 31.3% - - - - - NULL FRMD3 257019 genome.wustl.edu 37 9 85905529 85905529 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_174938.4 -1 validated p.P395H 0.010 239 0% 107 12.1% - - benign(0) tolerated(0.08) neutral(0.300) NULL C9orf103 414328 genome.wustl.edu 37 9 86258600 86258600 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001551.1 +1 provisional p.P111S 1.000 114 0% 56 51.8% - - benign(0.044) tolerated(0.05) neutral(0.348) superfamily_SSF52540 UBQLN1 29979 genome.wustl.edu 37 9 86293456 86293456 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013438.4 -1 reviewed p.R257Q 1.000 363 0% 173 34.7% - - probably_damaging(0.991) tolerated(0.08) deleterious(0.744) NULL KIF27 55582 genome.wustl.edu 37 9 86468627 86468627 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017576.1 -1 provisional p.R1092C 1.000 255 0% 161 34.2% - - possibly_damaging(0.926) deleterious(0) deleterious(0.819) NULL KIF27 55582 genome.wustl.edu 37 9 86506401 86506401 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017576.1 -1 provisional p.E540K 1.000 310 0% 173 37% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL HNRNPK 3190 genome.wustl.edu 37 9 86588205 86588205 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002140.3 -1 reviewed p.R171Q 1.000 83 0% 36 19.4% - - benign(0.007) deleterious(0.02) neutral(0.383) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) RMI1 80010 genome.wustl.edu 37 9 86616370 86616370 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024945.2 +1 validated p.L157I 1.000 149 0% 70 34.3% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_tRNA_anti SLC28A3 64078 genome.wustl.edu 37 9 86900957 86900957 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022127.1 -1 provisional p.I450 0.996 270 0% 146 39% - - - - - HMMPfam_Nucleos_tra2_C SLC28A3 64078 genome.wustl.edu 37 9 86928346 86928346 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022127.1 -1 provisional p.N28 0.733 661 0% 372 36% - - - - - NULL AGTPBP1 23287 genome.wustl.edu 37 9 88203388 88203388 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015239.2 -1 validated p.R870C 1.000 225 0% 105 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M14,superfamily_SSF53187 NAA35 60560 genome.wustl.edu 37 9 88573470 88573470 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024635.3 +1 validated p.R81Q 1.000 463 0% 233 31.8% - - possibly_damaging(0.949) tolerated(0.6) neutral(0.398) HMMPfam_Mak10 FAM75C1 441452 genome.wustl.edu 37 9 90535271 90535271 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145124.1 +1 validated p.S150F 0.000 549 0% 270 37% - - - - - NULL FAM75C1 441452 genome.wustl.edu 37 9 90535866 90535866 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145124.1 +1 validated p.Q348H 0.002 780 0% 292 34.2% - - - - - NULL FAM75C1 441452 genome.wustl.edu 37 9 90536633 90536633 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145124.1 +1 validated p.R604Q 0.004 113 0% 68 72.1% - - - - - NULL S1PR3 1903 genome.wustl.edu 37 9 91616517 91616517 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005226.2 +1 reviewed p.I134 0.291 146 0% 101 15.8% - - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 SHC3 53358 genome.wustl.edu 37 9 91652938 91652938 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016848.4 -1 validated p.K542N 0.999 85 0% 59 28.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain SHC3 53358 genome.wustl.edu 37 9 91657043 91657043 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016848.4 -1 validated p.E420* 1.000 258 0% 133 34.6% - - - - - NULL SHC3 53358 genome.wustl.edu 37 9 91690058 91690058 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016848.4 -1 validated p.A232V 1.000 312 0% 160 35% - - benign(0.066) tolerated(0.11) neutral(0.276) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like SHC3 53358 genome.wustl.edu 37 9 91727526 91727526 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016848.4 -1 validated p.E164* 1.000 205 0% 107 38.3% - - - - - HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like SECISBP2 79048 genome.wustl.edu 37 9 91940541 91940541 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024077.3 +1 reviewed p.R128* 0.000 256 0% 139 28.8% - - - - - NULL SECISBP2 79048 genome.wustl.edu 37 9 91943758 91943758 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024077.3 +1 reviewed p.S253Y 0.298 149 0% 57 31.6% - - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL SEMA4D 10507 genome.wustl.edu 37 9 92001348 92001348 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006378.3 -1 validated p.I460 0.978 224 0% 141 32.6% - - - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema SEMA4D 10507 genome.wustl.edu 37 9 92002351 92002351 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006378.3 -1 validated p.R427Q 1.000 219 0% 131 38.2% - - possibly_damaging(0.938) tolerated(0.11) deleterious(0.655) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema SYK 6850 genome.wustl.edu 37 9 93639946 93639946 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003177.5 +1 reviewed p.Q425H 1.000 266 0% 163 37.4% - - benign(0.001) tolerated(0.76) neutral(0.001) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) NFIL3 4783 genome.wustl.edu 37 9 94172680 94172680 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005384.2 -1 validated p.A113T 1.000 265 0% 154 34.4% - - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMSmart_SM00338,HMMPfam_bZIP_2 SPTLC1 10558 genome.wustl.edu 37 9 94794836 94794836 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006415.2 -1 reviewed p.R445W 0.707 174 0% 100 37% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases IARS 3376 genome.wustl.edu 37 9 95003149 95003149 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002161.4 -1 reviewed p.G1091D 0.993 286 0% 117 23.9% - - benign(0.001) tolerated(0.16) neutral(0.059) NULL IARS 3376 genome.wustl.edu 37 9 95009821 95009821 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002161.4 -1 reviewed p.R877* 1.000 356 0% 210 38.6% - - - - - superfamily_tRNAsyn_1a_bind IARS 3376 genome.wustl.edu 37 9 95013074 95013074 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002161.4 -1 reviewed p.L784I 1.000 274 0% 154 37.7% - - possibly_damaging(0.927) tolerated(0.09) deleterious(0.671) superfamily_tRNAsyn_1a_bind,HMMPfam_Anticodon_1 IARS 3376 genome.wustl.edu 37 9 95036765 95036765 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002161.4 -1 reviewed p.N311 1.000 156 0% 82 28% - - - - - HMMPfam_tRNA-synt_1,superfamily_ValRS_IleRS_edit,superfamily_SSF52374 NOL8 55035 genome.wustl.edu 37 9 95077576 95077576 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017948.5 -1 validated p.S444Y 0.000 104 0% 63 38.1% - - benign(0) tolerated(0.82) neutral(0.001) NULL NOL8 55035 genome.wustl.edu 37 9 95086340 95086340 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017948.5 -1 validated p.S35L 0.814 205 0% 151 37.7% - - benign(0.092) tolerated(0.35) neutral(0.028) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD OGN 4969 genome.wustl.edu 37 9 95147920 95147920 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014057.3 -1 reviewed p.P293 0.000 387 0.5% 175 39.4% - - - - - superfamily_L domain-like ECM2 1842 genome.wustl.edu 37 9 95272313 95272313 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001393.2 -1 reviewed p.L392 0.983 209 0% 100 37% - - - - - HMMPfam_LRR_1,superfamily_SSF52058 BICD2 23299 genome.wustl.edu 37 9 95481751 95481751 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001003800.1 -1 reviewed p.E392D 1.000 108 0% 105 41.9% - - benign(0.041) tolerated(0.34) neutral(0.025) HMMPfam_BicD BICD2 23299 genome.wustl.edu 37 9 95482839 95482839 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001003800.1 -1 reviewed p.D269Y 1.000 289 0% 279 33% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_BicD BICD2 23299 genome.wustl.edu 37 9 95483011 95483011 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001003800.1 -1 reviewed p.E211 1.000 157 0% 92 34.8% - - - - - HMMPfam_BicD ZNF484 83744 genome.wustl.edu 37 9 95609488 95609488 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031486.1 -1 provisional p.S527 0.852 302 0% 197 12.7% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FGD3 89846 genome.wustl.edu 37 9 95765248 95765248 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001083536.1 +1 validated p.L165 0.999 125 0% 92 21.7% - - - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) SUSD3 203328 genome.wustl.edu 37 9 95841837 95841837 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145006.2 +1 provisional p.K170 0.002 50 0% 48 35.4% - - - - - NULL WNK2 65268 genome.wustl.edu 37 9 95993325 95993325 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006648.3 +1 reviewed p.S337Y 1.000 186 0% 111 34.2% - - unknown(0) deleterious(0) - superfamily_Kinase_like,HMMPfam_Pkinase FAM120A 23196 genome.wustl.edu 37 9 96291810 96291810 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014612.3 +1 validated p.H561R 1.000 138 0% 90 33.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FAM120A 23196 genome.wustl.edu 37 9 96305660 96305660 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014612.3 +1 validated p.R689K 1.000 81 0% 84 34.5% - - probably_damaging(0.995) tolerated(0.11) deleterious(0.729) NULL PHF2 5253 genome.wustl.edu 37 9 96437264 96437264 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005392.3 +1 reviewed p.K894N 1.000 103 0% 67 40.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PTPDC1 138639 genome.wustl.edu 37 9 96870208 96870208 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152422.3 +1 reviewed p.G801 0.000 107 0% 39 17.9% - - - - - NULL FAM22F 54754 genome.wustl.edu 37 9 97081474 97081474 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017561.1 -1 validated p.R515Q 0.000 81 0% 53 34% - - benign(0.174) tolerated(0.21) neutral(0.060) NULL FAM22F 54754 genome.wustl.edu 37 9 97088040 97088040 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017561.1 -1 validated p.V65M 0.005 68 0% 52 26.9% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL C9orf3 84909 genome.wustl.edu 37 9 97522384 97522384 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032823.3 +1 provisional p.K107Q 1.000 153 0% 93 43% - - possibly_damaging(0.45) tolerated(0.47) neutral(0.159) superfamily_SSF63737 MIR23B 407011 genome.wustl.edu 37 9 97847578 97847578 + RNA SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000384832 +1 known NULL 1.000 106 0% 78 23.1% - - - - - - FANCC 2176 genome.wustl.edu 37 9 97934322 97934322 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000136.2 -1 reviewed p.K151N 1.000 220 0% 95 49.5% - - possibly_damaging(0.45) deleterious(0.01) deleterious(0.553) HMMPfam_Fanconi_C C9orf102 375748 genome.wustl.edu 37 9 98669477 98669477 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010895.2 +1 validated p.R249C 1.000 311 0% 131 37.4% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM22G 441457 genome.wustl.edu 37 9 99700193 99700193 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001045477.2 +1 validated p.F450L 0.364 727 0% 405 23% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAM22G 441457 genome.wustl.edu 37 9 99700704 99700704 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000372322 +1 known p.R500Q 0.001 119 0% 88 18.2% - - benign(0.062) tolerated(0.2) neutral(0.053) NULL CTSL2 1515 genome.wustl.edu 37 9 99795309 99795309 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001333.2 -1 reviewed p.S309 0.000 366 0.5% 221 42.1% - - - - - PatternScan_THIOL_PROTEASE_ASN,HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,superfamily_SSF54001 C9orf156 51531 genome.wustl.edu 37 9 100672592 100672592 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016481.3 -1 validated p.R239I 0.000 413 0% 263 37.6% - - benign(0.024) deleterious(0.02) neutral(0.384) NULL HEMGN 55363 genome.wustl.edu 37 9 100692668 100692668 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018437.3 -1 validated p.A337T 0.000 698 0% 384 33.9% - - benign(0.022) tolerated(0.34) neutral(0.024) NULL HEMGN 55363 genome.wustl.edu 37 9 100692871 100692871 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018437.3 -1 validated p.G269D 0.007 750 0% 425 40.5% - - probably_damaging(0.998) tolerated(0.12) deleterious(0.735) NULL HEMGN 55363 genome.wustl.edu 37 9 100698516 100698516 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018437.3 -1 validated p.R37I 1.000 755 0% 421 34% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL TBC1D2 55357 genome.wustl.edu 37 9 100983279 100983279 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018421.3 -1 validated p.V404M 1.000 169 0% 122 34.4% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL TBC1D2 55357 genome.wustl.edu 37 9 100983286 100983286 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018421.3 -1 validated p.Q401H 1.000 160 0% 111 39.6% - - probably_damaging(0.956) tolerated(0.07) deleterious(0.719) NULL GABBR2 9568 genome.wustl.edu 37 9 101216284 101216284 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005458.7 -1 reviewed p.E405D 1.000 325 0% 197 24.9% - - benign(0.019) tolerated(0.06) neutral(0.324) HMMPfam_ANF_receptor,superfamily_SSF53822 GABBR2 9568 genome.wustl.edu 37 9 101304321 101304321 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005458.7 -1 reviewed p.S155Y 1.000 115 0% 69 31.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ANF_receptor,superfamily_SSF53822 GALNT12 79695 genome.wustl.edu 37 9 101589195 101589195 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024642.3 +1 validated p.E235K 1.000 96 0% 102 40.2% - - benign(0.051) tolerated(0.3) neutral(0.032) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases KRT8P11 347265 genome.wustl.edu 37 9 102067737 102067737 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000409686 +1 known p.N115T 1.000 134 0% 62 30.6% - - benign(0.426) deleterious(0) deleterious(0.583) HMMPfam_Filament TEX10 54881 genome.wustl.edu 37 9 103108402 103108402 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017746.3 -1 validated p.I363M 1.000 229 0% 116 17.2% - - probably_damaging(0.979) deleterious(0.05) deleterious(0.767) NULL TEX10 54881 genome.wustl.edu 37 9 103108519 103108519 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017746.3 -1 validated p.I324 1.000 249 0% 108 41.7% - - - - - NULL TEX10 54881 genome.wustl.edu 37 9 103109480 103109480 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017746.3 -1 validated p.R130Q 1.000 334 0% 159 36.5% - - probably_damaging(0.97) tolerated(0.23) neutral(0.454) superfamily_ARM-type_fold LPPR1 54886 genome.wustl.edu 37 9 104032242 104032242 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017753.2 +1 reviewed p.F48L 1.000 251 0% 143 31.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LPPR1 54886 genome.wustl.edu 37 9 104032317 104032317 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017753.2 +1 reviewed p.L73 1.000 195 0% 148 30.4% - - - - - NULL LPPR1 54886 genome.wustl.edu 37 9 104079678 104079678 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017753.2 +1 reviewed p.T282M 0.920 198 0% 97 30.9% - - benign(0.024) tolerated(0.11) neutral(0.273) NULL BAAT 570 genome.wustl.edu 37 9 104125258 104125258 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127610.1 -1 reviewed p.G237* 0.836 150 0% 77 24.7% - - - - - HMMPfam_BAAT_C,superfamily_SSF53474 BAAT 570 genome.wustl.edu 37 9 104130513 104130513 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127610.1 -1 reviewed p.F186 1.000 143 0% 75 12% - - - - - superfamily_SSF53474 C9orf125 84302 genome.wustl.edu 37 9 104238361 104238361 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032342.1 -1 provisional p.L338 0.959 164 0% 109 40.4% - - - - - NULL RNF20 56254 genome.wustl.edu 37 9 104314967 104314967 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019592.5 +1 reviewed p.E611D 0.991 360 0% 151 31.8% - - possibly_damaging(0.95) tolerated(0.36) neutral(0.414) NULL RNF20 56254 genome.wustl.edu 37 9 104324563 104324563 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019592.5 +1 reviewed p.K929N 1.000 206 0% 118 44.9% - - benign(0.345) deleterious(0.04) neutral(0.458) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box GRIN3A 116443 genome.wustl.edu 37 9 104449192 104449192 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133445.2 -1 reviewed p.C330 0.195 334 0% 161 41% - - - - - superfamily_SSF53822 GRIN3A 116443 genome.wustl.edu 37 9 104499680 104499680 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133445.2 -1 reviewed p.S194 0.210 149 0.7% 82 36.6% - - - - - superfamily_SSF53822 GRIN3A 116443 genome.wustl.edu 37 9 104499750 104499750 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133445.2 -1 reviewed p.S171L 0.993 206 0% 105 41% - - benign(0.139) deleterious(0.02) neutral(0.395) superfamily_SSF53822 OR13F1 138805 genome.wustl.edu 37 9 107267028 107267028 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004485.1 +1 provisional p.S162Y 0.220 275 0% 196 38.8% - - benign(0.001) deleterious(0.03) neutral(0.364) HMMPfam_7tm_1,superfamily_SSF81321 OR13C9 286362 genome.wustl.edu 37 9 107379690 107379690 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001956.1 -1 provisional p.E266K 0.000 388 0% 253 11.9% - - benign(0) tolerated(0.27) neutral(0.034) HMMPfam_7tm_1,superfamily_SSF81321 ABCA1 19 genome.wustl.edu 37 9 107560837 107560837 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005502.2 -1 reviewed p.I1662 1.000 196 0% 149 36.9% - - - - - NULL ABCA1 19 genome.wustl.edu 37 9 107571790 107571790 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005502.2 -1 reviewed p.D1411Y 0.406 390 0% 188 21.8% - - benign(0.001) tolerated(0.06) neutral(0.323) NULL SLC44A1 23446 genome.wustl.edu 37 9 108136967 108136967 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080546.3 +1 validated p.R528Q 1.000 347 0% 206 25.7% - - possibly_damaging(0.91) tolerated(1) neutral(0.362) HMMPfam_DUF580 FSD1L 83856 genome.wustl.edu 37 9 108268760 108268760 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145313.1 +1 validated p.E223K 1.000 220 0% 145 31.7% - - possibly_damaging(0.912) deleterious(0.02) deleterious(0.746) HMMPfam_fn3,superfamily_Fibronectin type III FKTN 2218 genome.wustl.edu 37 9 108370218 108370218 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079802.1 +1 reviewed p.R256* 1.000 184 0% 105 26.7% - - - - - NULL ZNF462 58499 genome.wustl.edu 37 9 109687961 109687961 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021224.4 +1 validated p.P590S 1.000 366 0% 317 39.4% - - unknown(0) deleterious(0) - superfamily_beta-sandwich domain of Sec23/24 ZNF462 58499 genome.wustl.edu 37 9 109688665 109688665 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021224.4 +1 validated p.I824 0.909 184 0% 98 38.8% - - - - - superfamily_beta-sandwich domain of Sec23/24 ZNF462 58499 genome.wustl.edu 37 9 109689082 109689082 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021224.4 +1 validated p.V963 0.230 134 0% 84 33.3% - - - - - superfamily_beta-sandwich domain of Sec23/24 ZNF462 58499 genome.wustl.edu 37 9 109734443 109734443 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021224.4 +1 validated p.F2195L 1.000 217 0% 133 40.6% - - possibly_damaging(0.94) tolerated(0.66) neutral(0.388) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,superfamily_beta-sandwich domain of Sec23/24 IKBKAP 8518 genome.wustl.edu 37 9 111641764 111641764 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003640.3 -1 reviewed p.M1178I 1.000 276 0% 170 12.9% - - benign(0.003) tolerated(0.47) neutral(0.011) NULL EPB41L4B 54566 genome.wustl.edu 37 9 111976046 111976046 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019114.3 -1 validated p.K562N 1.000 341 0.3% 202 32.7% - - probably_damaging(0.99) tolerated(0.15) deleterious(0.682) NULL PALM2 114299 genome.wustl.edu 37 9 112705217 112705217 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_053016.5 +1 validated p.V252M 0.000 117 0% 72 34.7% - - benign(0) tolerated(0.23) neutral(0.042) HMMPfam_Paralemmin PALM2-AKAP2 445815 genome.wustl.edu 37 9 112898523 112898523 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007203.4 +1 validated p.E233D 1.000 233 0% 115 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PALM2-AKAP2 445815 genome.wustl.edu 37 9 112899206 112899206 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007203.4 +1 validated p.A461V 1.000 162 0% 65 35.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SVEP1 79987 genome.wustl.edu 37 9 113171058 113171058 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153366.3 -1 validated p.F2274L 0.087 251 0.4% 139 33.8% - - benign(0.139) tolerated(0.6) neutral(0.017) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SVEP1 79987 genome.wustl.edu 37 9 113171166 113171166 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153366.3 -1 validated p.V2238 0.001 184 0% 124 35.5% - - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SVEP1 79987 genome.wustl.edu 37 9 113192572 113192572 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153366.3 -1 validated p.L1838 0.056 236 0% 113 45.1% - - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SVEP1 79987 genome.wustl.edu 37 9 113192656 113192656 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153366.3 -1 validated p.E1810K 0.042 208 0% 105 74.3% - - benign(0.001) tolerated(0.92) - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SVEP1 79987 genome.wustl.edu 37 9 113213582 113213582 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153366.3 -1 validated p.V1296 0.261 338 0% 216 38.4% - - - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin SVEP1 79987 genome.wustl.edu 37 9 113228255 113228255 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153366.3 -1 validated p.S1071L 1.000 209 0% 121 36.4% - - possibly_damaging(0.646) tolerated(0.17) neutral(0.285) superfamily_Growth factor receptor domain,HMMPfam_GCC2_GCC3 SVEP1 79987 genome.wustl.edu 37 9 113276235 113276235 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153366.3 -1 validated p.T372 0.992 214 0% 123 35% - - - - - superfamily_Growth factor receptor domain,PatternScan_EGF_2 MUSK 4593 genome.wustl.edu 37 9 113563158 113563158 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005592.3 +1 reviewed p.L834I 1.000 111 0.9% 77 31.2% - - probably_damaging(0.998) tolerated(0.06) deleterious(0.797) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) LPAR1 1902 genome.wustl.edu 37 9 113704387 113704387 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001401.3 -1 reviewed p.R36Q 1.000 110 0% 52 28.8% - - possibly_damaging(0.864) tolerated(0.26) neutral(0.369) superfamily_Family A G protein-coupled receptor-like OR2K2 26248 genome.wustl.edu 37 9 114089811 114089811 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_205859.1 -1 provisional p.K301N 0.507 224 0% 142 34.5% - - benign(0.012) deleterious(0.03) neutral(0.365) superfamily_Family A G protein-coupled receptor-like OR2K2 26248 genome.wustl.edu 37 9 114090077 114090077 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_205859.1 -1 provisional p.V213F 0.377 226 0.4% 122 38.5% - - benign(0.341) deleterious(0) deleterious(0.552) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like KIAA0368 23392 genome.wustl.edu 37 9 114206743 114206743 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080398.1 -1 provisional p.R240H 1.000 459 0% 226 34.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat DNAJC25 548645 genome.wustl.edu 37 9 114411886 114411886 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001015882.2 +1 provisional p.R215C 1.000 135 0% 60 18.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SUSD1 64420 genome.wustl.edu 37 9 114804226 114804233 + Frame_Shift_Del DEL GCATGAGT GCATGAGT - novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 GCATGAGT GCATGAGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000374263 -1 known p.H741fs 0.019:0.000:0.001:0.028:0.089:0.138:0.104:0.001 - - - - - - - - - NULL SUSD1 64420 genome.wustl.edu 37 9 114874078 114874078 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000374263 -1 known p.R343C 0.974 564 0% 415 14.9% - - benign(0.118) deleterious(0.01) neutral(0.415) NULL ZFP37 7539 genome.wustl.edu 37 9 115805634 115805634 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003408.1 -1 provisional p.E422K 0.596 298 0% 175 36.6% - - probably_damaging(0.982) tolerated(0.61) neutral(0.430) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 WDR31 114987 genome.wustl.edu 37 9 116083831 116083831 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012361.1 -1 reviewed p.E200* 0.998 421 0% 230 15.7% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 RGS3 5998 genome.wustl.edu 37 9 116246422 116246422 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144488.4 +1 reviewed p.S177Y 1.000 63 0% 57 24.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) AMBP 259 genome.wustl.edu 37 9 116836362 116836362 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001633.3 -1 reviewed p.K136N 1.000 393 0% 334 29.3% - - probably_damaging(0.991) tolerated(0.06) deleterious(0.766) HMMPfam_Lipocalin,superfamily_Calycin AKNA 80709 genome.wustl.edu 37 9 117122196 117122196 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030767.4 -1 validated p.V757 0.244 139 0% 97 45.4% - - - - - NULL TNFSF15 9966 genome.wustl.edu 37 9 117552767 117552767 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005118.2 -1 reviewed p.E241* 1.000 247 0% 147 34% - - - - - HMMPfam_TNF,HMMSmart_SM00207,superfamily_TNF-like TNC 3371 genome.wustl.edu 37 9 117838845 117838845 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002160.2 -1 validated p.A895V 1.000 352 0% 194 11.9% - - possibly_damaging(0.945) tolerated(0.14) deleterious(0.639) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like TNC 3371 genome.wustl.edu 37 9 117849293 117849293 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002160.2 -1 validated p.F239 0.881 59 0% 59 35.6% - - - - - HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2 TNC 3371 genome.wustl.edu 37 9 117849421 117849421 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002160.2 -1 validated p.R197* 0.002 95 0% 79 46.8% - - - - - HMMSmart_EGF,HMMPfam_EGF_2 TNC 3371 genome.wustl.edu 37 9 117852999 117852999 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002160.2 -1 validated p.F100S 1.000 86 0% 61 29.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PAPPA 5069 genome.wustl.edu 37 9 118997568 118997568 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002581.3 +1 reviewed p.S795Y 1.000 150 0% 123 33.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Peptidase_M43,superfamily_SSF55486 PAPPA 5069 genome.wustl.edu 37 9 119097245 119097245 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002581.3 +1 reviewed p.S1168L 1.000 87 0% 57 36.8% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_SSF55486 PAPPA 5069 genome.wustl.edu 37 9 119129940 119129940 + Silent SNP C C G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002581.3 +1 reviewed p.T1504 1.000 143 0% 108 28.7% - - - - - superfamily_SSF55486 PAPPA 5069 genome.wustl.edu 37 9 119144714 119144714 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002581.3 +1 reviewed p.R1573Q 1.000 155 0% 103 40.8% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Notch,HMMSmart_NL,superfamily_SSF55486 ASTN2 23245 genome.wustl.edu 37 9 119202978 119202978 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000417725 -1 known p.R13* 1.000 418 0% 190 41.1% - - possibly_damaging(0.839) deleterious(0.05) deleterious(0.666) NULL ASTN2 23245 genome.wustl.edu 37 9 119625955 119625955 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198187.3 -1 reviewed p.F649 0.993 284 0% 123 40.7% - - - - - NULL ASTN2 23245 genome.wustl.edu 37 9 119802182 119802182 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198187.3 -1 reviewed p.L447 1.000 167 0% 98 28.6% - - - - - NULL TLR4 7099 genome.wustl.edu 37 9 120475166 120475166 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138554.3 +1 reviewed p.E254* 0.159 124 0% 56 32.1% - - - - - superfamily_L domain-like TLR4 7099 genome.wustl.edu 37 9 120476223 120476223 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138554.3 +1 reviewed p.R606Q 0.001 299 0% 228 36.4% - - benign(0.004) tolerated(1) - HMMPfam_LRRCT,HMMSmart_SM00082,superfamily_L domain-like DBC1 1620 genome.wustl.edu 37 9 121930121 121930121 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014618.2 -1 validated p.E509D 1.000 223 0% 162 33.3% - - benign(0.388) tolerated(1) neutral(0.124) NULL DBC1 1620 genome.wustl.edu 37 9 121976401 121976401 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014618.2 -1 validated p.E240* 1.000 188 0% 133 42.9% - - - - - HMMSmart_SM00457 DBC1 1620 genome.wustl.edu 37 9 122001016 122001016 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014618.2 -1 validated p.P201H 1.000 176 0% 113 31% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00457 CDK5RAP2 55755 genome.wustl.edu 37 9 123201748 123201748 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018249.4 -1 reviewed p.Q1217H 0.948 335 0% 183 37.7% - - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL CDK5RAP2 55755 genome.wustl.edu 37 9 123290168 123290168 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018249.4 -1 reviewed p.E305D 1.000 650 0% 331 34.7% - - possibly_damaging(0.837) deleterious(0.04) deleterious(0.668) NULL PSMD5 5711 genome.wustl.edu 37 9 123595733 123595733 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005047.2 -1 reviewed p.E59* 1.000 132 0% 57 22.8% - - - - - superfamily_ARM-type_fold,HMMPfam_Proteasom_PSMB PHF19 26147 genome.wustl.edu 37 9 123636302 123636302 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015651.1 -1 validated p.E75K 1.000 203 0% 91 31.9% - - possibly_damaging(0.945) deleterious(0.02) deleterious(0.772) HMMSmart_SM00333,superfamily_Tudor/PWWP/MBT C5 727 genome.wustl.edu 37 9 123739055 123739055 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001735.2 -1 reviewed p.D1263Y 0.923 283 0% 171 35.1% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_Terp_cyc_toroid,HMMPfam_A2M_comp C5 727 genome.wustl.edu 37 9 123760036 123760036 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001735.2 -1 reviewed p.S860F 0.567 223 0% 112 37.5% - - possibly_damaging(0.952) tolerated(0.18) neutral(0.452) NULL CNTRL 11064 genome.wustl.edu 37 9 123920070 123920070 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007018.4 +1 reviewed p.E1517* 1.000 276 0% 109 33% - - - - - NULL MORN5 254956 genome.wustl.edu 37 9 124922292 124922292 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198469.2 +1 validated p.D14G 0.716 444 0% 200 27.5% - - benign(0.025) tolerated(0.17) neutral(0.060) HMMPfam_MORN,HMMSmart_MORN,superfamily_SSF82185 MORN5 254956 genome.wustl.edu 37 9 124936808 124936808 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198469.2 +1 validated p.R114I 1.000 309 0% 155 35.5% - - probably_damaging(0.992) tolerated(0.11) deleterious(0.719) superfamily_SSF82185 OR1J1 347168 genome.wustl.edu 37 9 125239745 125239745 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004451.1 -1 provisional p.A154V 0.392 196 0% 139 40.3% - - benign(0.017) tolerated(0.18) neutral(0.057) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR1L8 138881 genome.wustl.edu 37 9 125330095 125330095 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004454.1 -1 provisional p.R221Q 0.000 234 0% 86 29.1% - - benign(0.09) tolerated(0.36) neutral(0.026) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR1L3 26735 genome.wustl.edu 37 9 125437654 125437654 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005234.1 +1 provisional p.L82 0.002 391 0% 235 38.3% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR1L3 26735 genome.wustl.edu 37 9 125438186 125438186 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005234.1 +1 provisional p.L260 0.014 261 0% 167 33.5% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR1L6 392390 genome.wustl.edu 37 9 125512083 125512083 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004453.2 +1 validated p.S22F 0.000 461 0% 257 24.9% - - possibly_damaging(0.565) deleterious(0) deleterious(0.637) NULL RABGAP1 23637 genome.wustl.edu 37 9 125748493 125748493 + Splice_Site SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012197.3 +1 validated e3-1 1.000 152 0% 147 38.1% - - - - - - RABGAP1 23637 genome.wustl.edu 37 9 125772639 125772639 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012197.3 +1 validated p.Q461* 1.000 231 0% 105 35.2% - - - - - NULL GPR21 2844 genome.wustl.edu 37 9 125797750 125797750 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005294.1 +1 provisional p.V302A 1.000 171 0% 95 36.8% - - benign(0.095) deleterious(0.02) neutral(0.390) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RABGAP1 23637 genome.wustl.edu 37 9 125835911 125835911 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012197.3 +1 validated p.F688 1.000 179 0% 129 24% - - - - - HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p STRBP 55342 genome.wustl.edu 37 9 125887884 125887884 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018387.4 -1 validated p.F671L 1.000 506 0% 218 37.2% - - possibly_damaging(0.643) deleterious(0) deleterious(0.670) NULL NR5A1 2516 genome.wustl.edu 37 9 127262511 127262511 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004959.4 -1 reviewed p.R243H 0.991 13 0% 14 42.9% - - probably_damaging(0.969) deleterious(0.01) deleterious(0.817) superfamily_Nuclear receptor ligand-binding domain NR6A1 2649 genome.wustl.edu 37 9 127287104 127287104 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033334.2 -1 reviewed p.R417Q 1.000 266 0% 120 12.5% - - probably_damaging(0.959) tolerated(0.05) deleterious(0.748) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain NR6A1 2649 genome.wustl.edu 37 9 127302449 127302449 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033334.2 -1 reviewed p.I153 0.699 331 0% 239 36.4% - - - - - superfamily_Nuclear receptor ligand-binding domain OLFML2A 169611 genome.wustl.edu 37 9 127572682 127572682 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182487.2 +1 validated p.F650 0.871 123 0% 83 31.3% - - - - - HMMPfam_OLF,HMMSmart_SM00284 GOLGA1 2800 genome.wustl.edu 37 9 127685448 127685448 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002077.3 -1 reviewed p.L163I 1.000 446 0% 254 33.1% - - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL GAPVD1 26130 genome.wustl.edu 37 9 128064445 128064445 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015635.2 +1 validated p.E123D 1.000 254 0% 174 46.6% - - benign(0) tolerated(0.28) neutral(0.032) superfamily_Rho_GAP LMX1B 4010 genome.wustl.edu 37 9 129455575 129455575 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002316.3 +1 reviewed p.F215 0.997 46 0% 37 16.2% - - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like RALGPS1 9649 genome.wustl.edu 37 9 129815154 129815154 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014636.1 +1 provisional p.S140Y 1.000 511 0% 226 33.2% - - probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF GARNL3 84253 genome.wustl.edu 37 9 130117645 130117645 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032293.4 +1 validated p.K610T 1.000 258 0% 129 42.6% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_CNH,HMMSmart_SM00036 FAM129B 64855 genome.wustl.edu 37 9 130270473 130270473 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022833.2 -1 validated p.D481N 1.000 80 0% 32 21.9% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL FAM129B 64855 genome.wustl.edu 37 9 130289514 130289514 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022833.2 -1 validated p.V92M 1.000 125 0% 107 34.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_PH,superfamily_SSF50729 TTC16 158248 genome.wustl.edu 37 9 130485416 130485416 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144965.1 +1 provisional p.D226N 0.981 23 0% 23 26.1% - - unknown(0) - - HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 TOR2A 27433 genome.wustl.edu 37 9 130495840 130495840 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001085347.1 -1 validated e3-1 1.000 65 0% 56 35.7% - - - - - - SH2D3C 10044 genome.wustl.edu 37 9 130513577 130513577 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_170600.2 -1 validated p.F186L 1.000 114 0% 72 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CDK9 1025 genome.wustl.edu 37 9 130551520 130551520 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001261.3 +1 validated p.R273W 1.000 83 1.2% 53 47.2% - - probably_damaging(0.963) deleterious(0) deleterious(0.850) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ENG 2022 genome.wustl.edu 37 9 130587536 130587536 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001114753.1 -1 reviewed p.D264N 0.009 51 0% 45 40% - - benign(0.108) tolerated(0.08) neutral(0.308) NULL PTGES2 80142 genome.wustl.edu 37 9 130886805 130886805 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025072.5 -1 reviewed p.I168V 1.000 533 0% 239 13% - - benign(0.266) deleterious(0.01) neutral(0.434) superfamily_Thiordxn-like_fd GOLGA2 2801 genome.wustl.edu 37 9 131021523 131021523 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004486.4 -1 reviewed p.V647M 0.969 90 0% 93 37.6% - - benign(0.001) tolerated(1) - NULL SLC27A4 10999 genome.wustl.edu 37 9 131114981 131114981 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005094.3 +1 reviewed p.F314L 1.000 140 0% 82 31.7% - - possibly_damaging(0.73) deleterious(0) deleterious(0.711) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like GLE1 2733 genome.wustl.edu 37 9 131285937 131285937 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001003722.1 +1 reviewed p.R237W 1.000 38 0% 38 34.2% - - benign(0.068) deleterious(0.01) neutral(0.410) NULL SPTAN1 6709 genome.wustl.edu 37 9 131329153 131329153 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130438.1 +1 validated p.R45Q 1.000 93 0% 53 35.8% - - probably_damaging(0.999) tolerated(0.16) deleterious(0.550) HMMPfam_Spectrin,superfamily_Spectrin SPTAN1 6709 genome.wustl.edu 37 9 131395574 131395574 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130438.1 +1 validated p.F2465 0.998 86 0% 52 44.2% - - - - - HMMPfam_efhand_Ca_insen,superfamily_SSF47473 LRRC8A 56262 genome.wustl.edu 37 9 131669935 131669935 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127244.1 +1 reviewed p.F164 0.975 135 0% 67 11.9% - - - - - NULL DOLK 22845 genome.wustl.edu 37 9 131708126 131708126 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014908.3 -1 reviewed p.S486Y 1.000 194 0.5% 122 39.3% - - benign(0.29) tolerated(0.38) neutral(0.107) NULL DOLK 22845 genome.wustl.edu 37 9 131708387 131708387 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014908.3 -1 reviewed p.R399Q 1.000 236 0% 161 36.6% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL NUP188 23511 genome.wustl.edu 37 9 131730845 131730845 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015354.1 +1 validated p.E216* 1.000 314 0% 189 35.4% - - - - - HMMPfam_Nup188 PPP2R4 5524 genome.wustl.edu 37 9 131904902 131904902 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000435305 +1 known p.R60I 0.679 69 0% 61 39.3% - - possibly_damaging(0.539) deleterious(0.02) deleterious(0.566) NULL FNBP1 23048 genome.wustl.edu 37 9 132658144 132658144 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015033.2 -1 reviewed p.E607K 1.000 266 0.4% 157 35% - - benign(0.006) tolerated(0.1) neutral(0.286) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain GPR107 57720 genome.wustl.edu 37 9 132891007 132891007 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136557.1 +1 validated p.S558Y 1.000 388 0% 222 35.6% - - probably_damaging(0.991) tolerated(0.07) deleterious(0.763) NULL LAMC3 10319 genome.wustl.edu 37 9 133932425 133932425 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006059.3 +1 reviewed p.F683L 1.000 51 0% 37 48.6% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) PatternScan_EGF_LAM_1,PatternScan_EGF_1,PatternScan_EGF_2 FAM78A 286336 genome.wustl.edu 37 9 134151379 134151379 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033387.3 -1 validated p.R63H 1.000 75 0% 55 43.6% - - probably_damaging(0.999) tolerated(0.16) deleterious(0.550) NULL POMT1 10585 genome.wustl.edu 37 9 134398379 134398379 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007171.3 +1 reviewed p.C710 0.175 59 0% 51 47.1% - - - - - NULL UCK1 83549 genome.wustl.edu 37 9 134404410 134404410 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031432.2 -1 validated p.R175H 0.047 70 0% 52 44.2% - - benign(0.001) deleterious(0.02) neutral(0.383) HMMPfam_PRK,superfamily_SSF52540 RAPGEF1 2889 genome.wustl.edu 37 9 134459920 134459920 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198679.1 -1 reviewed p.F931 1.000 162 0% 128 22.7% - - - - - HMMPfam_RasGEF,HMMSmart_RasGEF,superfamily_Ras_GEF RAPGEF1 2889 genome.wustl.edu 37 9 134497277 134497277 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198679.1 -1 reviewed p.M605T 1.000 232 0% 147 31.3% - - benign(0.164) deleterious(0) neutral(0.460) NULL MED27 9442 genome.wustl.edu 37 9 134952878 134952878 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004269.2 -1 reviewed p.K100T 1.000 423 0% 227 37.9% - - probably_damaging(0.99) tolerated(0.15) deleterious(0.682) NULL SETX 23064 genome.wustl.edu 37 9 135156869 135156869 + Silent SNP C C T rs143035135 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015046.5 -1 reviewed p.P2213 1.000 197 0% 74 48.6% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SETX 23064 genome.wustl.edu 37 9 135203322 135203322 + Missense_Mutation SNP C C A rs12344006 byCluster;byFrequency;by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015046.5 -1 reviewed p.K1221N 0.007 213 0% 87 29.9% - - possibly_damaging(0.911) deleterious(0) deleterious(0.807) NULL SETX 23064 genome.wustl.edu 37 9 135203741 135203741 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015046.5 -1 reviewed p.E1082* 1.000 249 0% 130 32.3% - - - - - NULL SETX 23064 genome.wustl.edu 37 9 135211830 135211830 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015046.5 -1 reviewed p.E191* 1.000 241 0% 109 38.5% - - - - - NULL TTF1 7270 genome.wustl.edu 37 9 135251433 135251433 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007344.2 -1 validated p.R863* 0.000 553 0% 294 33.3% - - - - - NULL TTF1 7270 genome.wustl.edu 37 9 135266210 135266210 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007344.2 -1 validated p.R666C 0.600 209 0% 177 28.2% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SANT TTF1 7270 genome.wustl.edu 37 9 135277858 135277858 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007344.2 -1 validated p.K117N 0.087 251 0% 158 42.4% - - benign(0.223) deleterious(0.01) neutral(0.428) NULL C9orf171 389799 genome.wustl.edu 37 9 135357739 135357739 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207417.1 +1 predicted p.D80Y 0.000 285 0.4% 142 35.9% - - benign(0) tolerated(0.09) neutral(0.296) NULL BARHL1 56751 genome.wustl.edu 37 9 135458451 135458451 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020064.3 +1 validated p.S89 0.998 34 0% 21 33.3% - - - - - NULL AK8 158067 genome.wustl.edu 37 9 135750553 135750553 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152572.2 -1 validated p.E40K 0.381 485 0% 303 44.9% - - benign(0.005) tolerated(0.29) neutral(0.029) NULL TSC1 7248 genome.wustl.edu 37 9 135786448 135786448 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000368.4 -1 reviewed p.S361Y 1.000 418 0% 154 11.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Hamartin GFI1B 8328 genome.wustl.edu 37 9 135864471 135864471 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004188.4 +1 validated p.L178 0.650 40 0% 39 33.3% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GTF3C5 9328 genome.wustl.edu 37 9 135932281 135932281 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001122823.1 +1 validated p.R467L 1.000 86 0% 46 21.7% - - probably_damaging(0.997) tolerated(0.06) deleterious(0.788) NULL LOC100289412 100289412 genome.wustl.edu 37 9 135983699 135983699 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344240.1 +1 model p.P70Q 0.001 89 0% 62 40.3% - - - - - NULL REXO4 57109 genome.wustl.edu 37 9 136273933 136273933 + Missense_Mutation SNP G G A rs186019248 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020385.2 -1 validated p.R345W 0.983 452 0% 219 34.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00479,superfamily_Ribonuclease H-like,HMMPfam_Exonuc_X-T ADAMTS13 11093 genome.wustl.edu 37 9 136305613 136305613 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139025.3 +1 reviewed p.I645 0.764 37 0% 41 36.6% - - - - - NULL ADAMTS13 11093 genome.wustl.edu 37 9 136324376 136324376 + RNA SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_024514.1 +1 reviewed NULL 0.000 35 0% 16 31.2% - - - - - - SLC2A6 11182 genome.wustl.edu 37 9 136343502 136343502 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017585.3 -1 validated p.F43 0.987 276 0% 130 20% - - - - - HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter VAV2 7410 genome.wustl.edu 37 9 136640094 136640094 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134398.1 -1 reviewed p.R700W 1.000 88 0% 81 18.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain VAV2 7410 genome.wustl.edu 37 9 136662891 136662891 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134398.1 -1 reviewed p.A293T 1.000 201 0% 127 27.6% - - possibly_damaging(0.729) deleterious(0) deleterious(0.710) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) BRD3 8019 genome.wustl.edu 37 9 136916701 136916701 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007371.3 -1 reviewed p.A161V 0.958 144 0.7% 73 34.2% - - benign(0.089) tolerated(0.11) neutral(0.278) NULL RXRA 6256 genome.wustl.edu 37 9 137328312 137328312 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002957.4 +1 reviewed e10-1 1.000 134 0% 101 34.7% - - - - - - COL5A1 1289 genome.wustl.edu 37 9 137703184 137703184 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000093.3 +1 reviewed e45-1 1.000 142 0% 117 39.3% - - - - - - FCN1 2219 genome.wustl.edu 37 9 137803059 137803059 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002003.3 -1 reviewed p.A218V 1.000 405 0% 196 37.8% - - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like KCNT1 57582 genome.wustl.edu 37 9 138641959 138641959 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020822.2 +1 validated p.F90L 1.000 176 0% 78 33.3% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL KCNT1 57582 genome.wustl.edu 37 9 138660716 138660716 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020822.2 +1 validated p.F481 0.472 167 0% 105 48.6% - - - - - superfamily_NAD(P)-bd CAMSAP1 157922 genome.wustl.edu 37 9 138774901 138774901 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015447.3 -1 validated p.D62N 1.000 182 0% 122 30.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL QSOX2 169714 genome.wustl.edu 37 9 139116752 139116752 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181701.3 -1 validated p.F145V 1.000 268 0% 109 38.5% - - unknown(0) tolerated(0.65) - superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin SEC16A 9919 genome.wustl.edu 37 9 139347912 139347912 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014866.1 -1 validated p.E2043K 0.404 140 0% 52 40.4% - - possibly_damaging(0.875) deleterious(0.04) deleterious(0.689) NULL SEC16A 9919 genome.wustl.edu 37 9 139353673 139353673 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014866.1 -1 validated p.F1774 0.995 218 0% 128 29.7% - - - - - NULL SEC16A 9919 genome.wustl.edu 37 9 139369325 139369325 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014866.1 -1 validated p.E915K 0.914 160 0% 87 21.8% - - unknown(0) deleterious(0) - NULL FBXW5 54461 genome.wustl.edu 37 9 139835488 139835488 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018998.2 -1 reviewed p.D531 0.263 70 0% 75 37.3% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 PTGDS 5730 genome.wustl.edu 37 9 139875184 139875184 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000444903 +1 known p.S28I 0.000 111 0% 75 25.3% - - unknown(0) - - NULL C9orf142 286257 genome.wustl.edu 37 9 139888114 139888114 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_183241.1 +1 predicted p.K191N 0.997 203 0% 109 31.2% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL ABCA2 20 genome.wustl.edu 37 9 139905964 139905964 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000479446 -1 known p.S1248L 0.862 203 0% 132 32.6% - - - - - NULL ABCA2 20 genome.wustl.edu 37 9 139909379 139909379 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_212533.2 -1 reviewed p.E1320K 1.000 76 0% 40 45% - - benign(0.229) tolerated(0.64) neutral(0.026) NULL SLC34A3 142680 genome.wustl.edu 37 9 140127128 140127128 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080877.2 +1 reviewed p.L93I 1.000 33 0% 58 12.1% - - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_Na_Pi_cotrans PNPLA7 375775 genome.wustl.edu 37 9 140357238 140357238 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098537.1 -1 validated p.V1131M 0.996 198 0% 158 17.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_FabD/lysophospholipase-like PNPLA7 375775 genome.wustl.edu 37 9 140358849 140358849 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098537.1 -1 validated p.F1033L 1.000 175 0% 107 39.3% - - possibly_damaging(0.481) tolerated(0.3) neutral(0.188) HMMPfam_Patatin,superfamily_FabD/lysophospholipase-like PNPLA7 375775 genome.wustl.edu 37 9 140391645 140391645 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098537.1 -1 validated p.V669 0.900 28 0% 26 26.9% - - - - - HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like PNPLA7 375775 genome.wustl.edu 37 9 140395199 140395199 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098537.1 -1 validated p.T567 1.000 38 0% 34 26.5% - - - - - HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like PNPLA7 375775 genome.wustl.edu 37 9 140437202 140437202 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098537.1 -1 validated p.I186 1.000 56 0% 53 35.8% - - - - - HMMSmart_SM00100,superfamily_cAMP-binding domain-like ARRDC1 92714 genome.wustl.edu 37 9 140509146 140509146 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152285.2 +1 validated p.A311T 0.259 38 0% 35 42.9% - - probably_damaging(1) tolerated(0.15) deleterious(0.741) superfamily_Ig_E-set EHMT1 79813 genome.wustl.edu 37 9 140611326 140611326 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000460843 +1 known p.D112N 0.114 118 0% 60 16.7% - - benign(0.002) tolerated(0.3) neutral(0.029) NULL CACNA1B 774 genome.wustl.edu 37 9 140878700 140878700 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000718.2 +1 validated p.T589 0.205 114 0% 114 20.2% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1B 774 genome.wustl.edu 37 9 140952615 140952615 + Silent SNP C C T rs35538393 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000718.2 +1 validated p.F1407 0.788 1162 0.1% 670 36% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1B 774 genome.wustl.edu 37 9 141008912 141008912 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000718.2 +1 validated p.Q1873H 0.968 136 0% 79 38% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Ca_chan_IQ CACNA1B 774 genome.wustl.edu 37 9 141016214 141016214 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000277551 +1 known p.G2199D 1.000 49 0% 30 23.3% - - unknown(0) tolerated(0.3) - NULL DIP2C 22982 genome.wustl.edu 37 10 408517 408517 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014974.2 -1 reviewed p.L903M 1.000 196 0% 114 37.7% - - benign(0.195) deleterious(0.04) neutral(0.367) superfamily_SSF56801 DIP2C 22982 genome.wustl.edu 37 10 445069 445069 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014974.2 -1 reviewed p.E414K 1.000 92 0% 70 10% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_AMP-binding,superfamily_SSF56801 LARP4B 23185 genome.wustl.edu 37 10 875487 875487 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015155.1 -1 provisional p.K321N 1.000 193 0% 129 32.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GTPBP4 23560 genome.wustl.edu 37 10 1038582 1038582 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012341.2 +1 reviewed p.D68Y 1.000 140 0% 86 48.8% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_P-loop containing nucleoside triphosphate hydrolases WDR37 22884 genome.wustl.edu 37 10 1118121 1118121 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014023.3 +1 reviewed p.S9L 1.000 242 0% 143 28.7% - - benign(0) tolerated(0.14) neutral(0.249) NULL PFKP 5214 genome.wustl.edu 37 10 3150944 3150944 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002627.3 +1 validated p.V308M 1.000 267 0% 140 46.4% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_PFK,superfamily_Phosphofructokinase,PatternScan_PHOSPHOFRUCTOKINASE PITRM1 10531 genome.wustl.edu 37 10 3201218 3201218 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014889.2 -1 validated p.E342* 1.000 237 0% 137 53.3% - - - - - HMMPfam_Peptidase_M16_C,superfamily_LuxS/MPP-like metallohydrolase PITRM1 10531 genome.wustl.edu 37 10 3209219 3209219 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014889.2 -1 validated p.E59K 1.000 145 0% 89 46.1% - - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) superfamily_LuxS/MPP-like metallohydrolase KLF6 1316 genome.wustl.edu 37 10 3824025 3824025 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001300.5 -1 reviewed p.W162G 0.993 112 0% 77 49.4% - - probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL AKR1E2 83592 genome.wustl.edu 37 10 4872900 4872900 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040177.1 +1 provisional p.E25* 0.117 400 0% 207 27.5% - - - - - HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase AKR1C1 1645 genome.wustl.edu 37 10 5014882 5014882 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001353.5 +1 reviewed p.R263C 0.984 484 0.2% 314 28.3% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red AKR1C2 1646 genome.wustl.edu 37 10 5041445 5041445 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001354.4 -1 reviewed p.D132Y 0.729 1095 0.1% 714 29.3% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red AKR1CL1 340811 genome.wustl.edu 37 10 5204829 5204829 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000380510 -1 known p.F83C 0.998 368 0% 219 41.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase TUBAL3 79861 genome.wustl.edu 37 10 5437319 5437319 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024803.2 -1 validated p.D123N 0.992 109 0% 72 45.8% - - benign(0.038) deleterious(0) neutral(0.447) HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like FAM208B 54906 genome.wustl.edu 37 10 5762726 5762726 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017782.4 +1 validated p.R12H 0.000 295 0% 184 35.9% - - benign(0) tolerated(0.05) neutral(0.345) NULL FAM208B 54906 genome.wustl.edu 37 10 5781667 5781667 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017782.4 +1 validated p.E512* 0.012 260 0% 152 13.8% - - - - - NULL FAM208B 54906 genome.wustl.edu 37 10 5790862 5790862 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017782.4 +1 validated p.L1826 0.405 159 0% 137 32.8% - - - - - NULL FBXO18 84893 genome.wustl.edu 37 10 5957464 5957464 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032807.3 +1 reviewed p.E550K 0.004 108 0% 67 13.4% - - benign(0.003) tolerated(0.33) neutral(0.024) superfamily_SSF52540 FBXO18 84893 genome.wustl.edu 37 10 5969446 5969446 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032807.3 +1 reviewed p.R975Q 1.000 442 0% 227 15.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 RBM17 84991 genome.wustl.edu 37 10 6146974 6146974 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145547.1 +1 reviewed p.D107E 0.997 660 0% 248 35.1% - - benign(0.008) tolerated(1) - NULL RBM17 84991 genome.wustl.edu 37 10 6151957 6151957 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145547.1 +1 reviewed p.D191Y 1.000 361 0% 191 25.7% - - benign(0.267) tolerated(0.26) neutral(0.062) NULL PFKFB3 5209 genome.wustl.edu 37 10 6263367 6263367 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000450232 +1 known p.R1C 0.745 48 0% 37 45.9% - - - - - NULL SFMBT2 57713 genome.wustl.edu 37 10 7290522 7290522 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001029880.1 -1 provisional p.A320 0.998 178 0% 113 37.2% - - - - - HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT ITIH5 80760 genome.wustl.edu 37 10 7618675 7618675 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030569.5 -1 validated p.I573 0.009 127 0% 136 48.5% - - - - - NULL TAF3 83860 genome.wustl.edu 37 10 8006111 8006111 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031923.2 +1 provisional p.R213Q 1.000 91 0% 61 42.6% - - probably_damaging(0.998) tolerated(0.08) deleterious(0.774) NULL TAF3 83860 genome.wustl.edu 37 10 8006372 8006372 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031923.2 +1 provisional p.R300Q 1.000 129 0% 45 26.7% - - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL UPF2 26019 genome.wustl.edu 37 10 11997262 11997262 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015542.2 -1 reviewed p.R940Q 1.000 112 0% 39 46.2% - - probably_damaging(0.957) deleterious(0.02) deleterious(0.784) HMMPfam_MIF4G,HMMSmart_SM00543,superfamily_ARM repeat UPF2 26019 genome.wustl.edu 37 10 12070848 12070848 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015542.2 -1 reviewed p.E347D 1.000 154 0% 82 12.2% - - benign(0.34) tolerated(1) neutral(0.107) HMMPfam_MIF4G,HMMSmart_SM00543,superfamily_ARM repeat DHTKD1 55526 genome.wustl.edu 37 10 12126729 12126729 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018706.5 +1 validated p.S167 0.002 199 0% 104 76% - - - - - superfamily_Thiamin diphosphate-binding fold (THDP-binding) NUDT5 11164 genome.wustl.edu 37 10 12212721 12212721 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014142.2 -1 validated p.L182R 1.000 297 0% 159 47.8% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_NUDIX,superfamily_Nudix CDC123 8872 genome.wustl.edu 37 10 12279149 12279149 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006023.2 +1 validated p.S191Y 1.000 136 0% 88 39.8% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_D123 CCDC3 83643 genome.wustl.edu 37 10 12940626 12940626 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031455.3 -1 validated p.K201 1.000 103 0% 83 48.2% - - - - - NULL UCMA 221044 genome.wustl.edu 37 10 13271633 13271633 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145314.1 -1 provisional p.N99 1.000 610 0% 414 37.7% - - - - - NULL UCMA 221044 genome.wustl.edu 37 10 13275754 13275754 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145314.1 -1 provisional p.A35 0.000 119 0% 100 48% - - - - - NULL SEPHS1 22929 genome.wustl.edu 37 10 13380771 13380771 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012247.3 -1 reviewed p.H77 0.935 250 0% 118 39% - - - - - HMMPfam_AIRS,superfamily_PurM N-terminal domain-like FRMD4A 55691 genome.wustl.edu 37 10 13699327 13699327 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018027.3 -1 validated p.S754 1.000 51 0% 36 11.1% - - - - - NULL HSPA14 51182 genome.wustl.edu 37 10 14893232 14893232 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016299.2 +1 validated p.A161D 0.999 220 0% 161 47.2% - - probably_damaging(0.957) deleterious(0.01) deleterious(0.806) HMMPfam_HSP70,superfamily_Actin-like ATPase domain HSPA14 51182 genome.wustl.edu 37 10 14909107 14909107 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016299.2 +1 validated p.R340Q 1.000 239 0% 131 45% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HSP70,PatternScan_HSP70_3,superfamily_Actin-like ATPase domain DCLRE1C 64421 genome.wustl.edu 37 10 14950734 14950734 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001033855.1 -1 reviewed p.E584D 0.929 329 0% 269 36.1% - - benign(0.003) tolerated(0.15) neutral(0.241) NULL RPP38 10557 genome.wustl.edu 37 10 15146058 15146058 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001097590.1 +1 validated p.G249C 0.007 112 0% 57 24.6% - - possibly_damaging(0.719) deleterious(0.03) deleterious(0.625) NULL ITGA8 8516 genome.wustl.edu 37 10 15649744 15649744 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003638.1 -1 provisional p.R566C 0.132 265 0% 117 42.7% - - possibly_damaging(0.493) tolerated(0.18) neutral(0.221) HMMPfam_Integrin_alpha2,superfamily_SSF69179 ITGA8 8516 genome.wustl.edu 37 10 15688907 15688907 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003638.1 -1 provisional p.T382M 0.156 223 0% 147 39.5% - - benign(0.153) tolerated(0.11) neutral(0.285) HMMSmart_Int_alpha,superfamily_SSF69318 ITGA8 8516 genome.wustl.edu 37 10 15701035 15701035 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003638.1 -1 provisional p.T304M 1.000 194 0% 81 37% - - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMSmart_Int_alpha,superfamily_SSF69318 CUBN 8029 genome.wustl.edu 37 10 16918915 16918915 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001081.3 -1 reviewed p.K3029 0.995 76 0% 68 33.8% - - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 16967392 16967392 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001081.3 -1 reviewed p.P2165L 0.999 173 0% 74 56.8% - - benign(0.204) tolerated(1) neutral(0.019) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 16992015 16992015 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001081.3 -1 reviewed p.D1689Y 0.722 176 0% 118 50.8% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 17127702 17127702 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001081.3 -1 reviewed p.F668L 0.000 138 0% 88 30.7% - - benign(0) tolerated(0.76) neutral(0.001) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain TRDMT1 1787 genome.wustl.edu 37 10 17199651 17199651 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004412.5 -1 reviewed p.D226Y 0.997 567 0% 289 14.2% - - possibly_damaging(0.44) deleterious(0.02) deleterious(0.526) superfamily_S-adenosyl-L-methionine-dependent methyltransferases STAM 8027 genome.wustl.edu 37 10 17726891 17726891 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003473.2 +1 reviewed p.D88Y 1.000 518 0% 301 33.2% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288 MRC1 4360 genome.wustl.edu 37 10 17922544 17922544 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009567.1 +1 reviewed p.W909C 1.000 205 0% 140 27.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 SLC39A12 221074 genome.wustl.edu 37 10 18276496 18276496 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000425219 +1 known p.R352K 1.000 224 0% 124 33.1% - - - - - NULL CACNB2 783 genome.wustl.edu 37 10 18787376 18787376 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_201596.2 +1 reviewed p.F142 0.518 327 0% 196 42.3% - - - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain CACNB2 783 genome.wustl.edu 37 10 18827118 18827118 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_201596.2 +1 reviewed p.D438N 1.000 397 0% 183 28.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ca_channel_B,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases ARL5B 221079 genome.wustl.edu 37 10 18962933 18962933 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178815.3 +1 validated p.V120 0.881 199 0% 111 40.5% - - - - - HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases MLLT10 8028 genome.wustl.edu 37 10 21823627 21823627 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004641.2 +1 validated p.M18I 1.000 134 0% 91 28.6% - - benign(0.272) deleterious(0.02) neutral(0.412) superfamily_FYVE_PHD_ZnF SPAG6 9576 genome.wustl.edu 37 10 22699984 22699984 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012443.2 +1 reviewed p.R447* 0.998 215 0% 121 42.1% - - - - - superfamily_ARM repeat PIP4K2A 5305 genome.wustl.edu 37 10 22862314 22862314 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005028.4 -1 reviewed p.V189F 1.000 268 0% 153 34% - - benign(0.361) deleterious(0.05) neutral(0.460) HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like ARMC3 219681 genome.wustl.edu 37 10 23248041 23248041 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173081.3 +1 validated p.S112Y 0.082 208 0% 84 40.5% - - probably_damaging(0.972) tolerated(0.11) deleterious(0.685) HMMSmart_SM00185,superfamily_ARM repeat ARMC3 219681 genome.wustl.edu 37 10 23297227 23297227 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173081.3 +1 validated p.D618Y 1.000 103 0% 52 28.8% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL KIAA1217 56243 genome.wustl.edu 37 10 24508599 24508599 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019590.3 +1 validated p.E39* 1.000 113 0% 75 12% - - - - - NULL KIAA1217 56243 genome.wustl.edu 37 10 24727405 24727405 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019590.3 +1 validated p.M281I 0.994 350 0% 219 20.1% - - benign(0) tolerated(0.07) neutral(0.319) NULL KIAA1217 56243 genome.wustl.edu 37 10 24832448 24832448 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019590.3 +1 validated p.D1417N 0.856 229 0% 116 22.4% - - probably_damaging(0.998) tolerated(0.17) deleterious(0.533) NULL KIAA1217 56243 genome.wustl.edu 37 10 24832967 24832967 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019590.3 +1 validated p.R1590C 1.000 208 0% 93 34.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARHGAP21 57584 genome.wustl.edu 37 10 24874446 24874446 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020824.3 -1 validated p.S1591L 0.899 189 0% 150 34% - - possibly_damaging(0.904) deleterious(0) deleterious(0.803) NULL ARHGAP21 57584 genome.wustl.edu 37 10 24886905 24886905 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020824.3 -1 validated p.R1056* 1.000 553 0% 387 42.9% - - - - - NULL ARHGAP21 57584 genome.wustl.edu 37 10 24910128 24910128 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020824.3 -1 validated p.T232 0.416 331 0% 184 31.5% - - - - - NULL ENKUR 219670 genome.wustl.edu 37 10 25279412 25279412 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145010.2 -1 provisional p.E192* 1.000 370 0% 212 38.2% - - - - - NULL THNSL1 79896 genome.wustl.edu 37 10 25312817 25312817 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024838.4 +1 validated p.R222I 1.000 341 0% 185 27% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL THNSL1 79896 genome.wustl.edu 37 10 25313930 25313930 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024838.4 +1 validated p.R593Q 0.170 116 0% 66 34.8% - - benign(0) tolerated(1) - HMMPfam_PALP,superfamily_Tryptophan synthase beta subunit-like PLP-dependent enzymes GPR158 57512 genome.wustl.edu 37 10 25861759 25861759 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020752.2 +1 validated p.D566N 1.000 405 0% 328 36.6% - - benign(0.322) tolerated(0.2) neutral(0.150) HMMPfam_7tm_3 GPR158 57512 genome.wustl.edu 37 10 25883238 25883238 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020752.2 +1 validated p.R637I 0.027 518 0% 285 41.8% - - benign(0.367) tolerated(0.13) neutral(0.369) HMMPfam_7tm_3 MYO3A 53904 genome.wustl.edu 37 10 26446416 26446416 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017433.4 +1 reviewed p.R991W 1.000 234 0% 113 44.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO3A 53904 genome.wustl.edu 37 10 26463438 26463438 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017433.4 +1 reviewed p.K1415N 0.001 217 0% 102 35.3% - - probably_damaging(0.989) tolerated(0.12) deleterious(0.700) NULL MYO3A 53904 genome.wustl.edu 37 10 26465648 26465648 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017433.4 +1 reviewed p.E1438* 1.000 157 0% 95 28.4% - - - - - NULL ANKRD26 22852 genome.wustl.edu 37 10 27301903 27301903 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014915.2 -1 validated p.L1621F 0.000 420 0% 203 36.9% - - probably_damaging(0.999) tolerated(0.11) deleterious(0.762) NULL ANKRD26 22852 genome.wustl.edu 37 10 27323940 27323940 + Nonsense_Mutation SNP G G A rs151033255 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014915.2 -1 validated p.R1147* 1.000 436 0% 282 37.6% - - - - - NULL MASTL 84930 genome.wustl.edu 37 10 27459302 27459302 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032844.3 +1 reviewed p.E472K 0.000 64 0% 48 18.8% - - benign(0.003) tolerated(0.16) neutral(0.059) superfamily_Kinase_like LOC100288039 100288039 genome.wustl.edu 37 10 27568121 27568121 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002342965.1 +1 model p.K76N 0.555 374 0% 192 41.7% - - - - - NULL PTCHD3 374308 genome.wustl.edu 37 10 27687450 27687450 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001034842.3 -1 validated p.L693I 0.006 120 0% 74 29.7% - - benign(0.004) tolerated(0.45) neutral(0.012) HMMPfam_Patched MKX 283078 genome.wustl.edu 37 10 28030313 28030313 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173576.2 -1 validated p.K103N 1.000 195 0% 105 48.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like ARMC4 55130 genome.wustl.edu 37 10 28149593 28149593 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018076.2 -1 validated p.A994 0.005 354 0% 219 39.3% - - - - - HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat WAC 51322 genome.wustl.edu 37 10 28903534 28903534 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016628.3 +1 reviewed p.Q492 0.992 81 0% 68 16.2% - - - - - NULL WAC 51322 genome.wustl.edu 37 10 28906608 28906608 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016628.3 +1 reviewed p.A590V 1.000 87 0% 35 28.6% - - possibly_damaging(0.789) tolerated(0.45) neutral(0.308) NULL SVIL 6840 genome.wustl.edu 37 10 29818733 29818733 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021738.2 -1 reviewed p.R716Q 0.970 253 0% 172 10.5% - - benign(0.014) tolerated(0.26) neutral(0.035) NULL KIAA1462 57608 genome.wustl.edu 37 10 30317033 30317033 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020848.2 -1 validated p.P682S 1.000 520 0% 292 43.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MTPAP 55149 genome.wustl.edu 37 10 30625854 30625854 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018109.3 -1 validated p.A220T 0.994 375 0% 206 32.5% - - possibly_damaging(0.568) tolerated(0.15) neutral(0.435) superfamily_Nucleotidyltransferase MTPAP 55149 genome.wustl.edu 37 10 30629335 30629335 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018109.3 -1 validated p.G125 0.032 181 0% 100 34% - - - - - NULL LOC645954 645954 genome.wustl.edu 37 10 30987425 30987425 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_017086.3 +1 model NULL 1.000 243 0% 155 17.4% - - - - - - ZNF438 220929 genome.wustl.edu 37 10 31138034 31138034 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143766.1 -1 validated p.R434C 1.000 77 0% 49 18.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZEB1 6935 genome.wustl.edu 37 10 31809281 31809281 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030751.5 +1 reviewed p.Q340* 1.000 303 0% 177 40.1% - - - - - NULL ZEB1 6935 genome.wustl.edu 37 10 31810426 31810426 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030751.5 +1 reviewed p.Y721* 0.603 209 0% 106 34.9% - - - - - NULL ZEB1 6935 genome.wustl.edu 37 10 31815882 31815882 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030751.5 +1 reviewed p.S1022L 0.969 363 0.3% 196 46.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARHGAP12 94134 genome.wustl.edu 37 10 32103220 32103220 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018287.5 -1 provisional p.E601* 1.000 934 0% 537 40% - - - - - NULL KIF5B 3799 genome.wustl.edu 37 10 32320138 32320138 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004521.2 -1 validated p.D482N 1.000 524 0% 342 32.2% - - possibly_damaging(0.439) deleterious(0.01) deleterious(0.548) NULL KIF5B 3799 genome.wustl.edu 37 10 32329364 32329364 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004521.2 -1 validated p.G79E 1.000 461 0% 284 31.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 CCDC7 221016 genome.wustl.edu 37 10 32832257 32832257 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001026383.1 +1 validated p.K341N 0.859 254 0% 57 36.8% - - benign(0.261) deleterious(0.01) neutral(0.433) NULL CCDC7 221016 genome.wustl.edu 37 10 32833194 32833194 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001026383.1 +1 validated p.E367* 0.000 147 0% 56 41.1% - - - - - NULL NRP1 8829 genome.wustl.edu 37 10 33474632 33474632 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003873.5 -1 validated p.I785 0.972 321 0% 217 32.3% - - - - - HMMPfam_MAM,HMMSmart_SM00137 NRP1 8829 genome.wustl.edu 37 10 33515119 33515119 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003873.5 -1 validated p.I360 0.027 315 0.3% 202 44.1% - - - - - HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like PARD3 56288 genome.wustl.edu 37 10 34420423 34420423 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019619.3 -1 validated p.R1173C 1.000 572 0% 387 28.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PARD3 56288 genome.wustl.edu 37 10 34573160 34573160 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019619.3 -1 validated p.R1030* 1.000 602 0% 266 36.8% - - - - - NULL PARD3 56288 genome.wustl.edu 37 10 34636976 34636976 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019619.3 -1 validated p.R712Q 1.000 303 0% 131 31.3% - - probably_damaging(1) tolerated(0.16) deleterious(0.559) NULL PARD3 56288 genome.wustl.edu 37 10 34739377 34739377 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019619.3 -1 validated e5-1 1.000 174 0% 128 47.7% - - - - - - CUL2 8453 genome.wustl.edu 37 10 35360156 35360156 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003591.2 -1 provisional p.V30 0.020 356 0% 229 31% - - - - - HMMPfam_Cullin,superfamily_Cullin repeat CREM 1390 genome.wustl.edu 37 10 35467805 35467805 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000495960 +1 known p.I42 1.000 110 0% 69 44.9% - - - - - NULL NAMPTL 646309 genome.wustl.edu 37 10 36812967 36812967 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000440465 -1 known p.D66Y 1.000 682 0% 479 38% - - benign(0.007) deleterious(0.03) neutral(0.364) NULL ANKRD30A 91074 genome.wustl.edu 37 10 37506768 37506768 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052997.2 +1 validated p.D1021Y 0.002 271 0% 94 25.5% - - possibly_damaging(0.882) deleterious(0) deleterious(0.789) NULL LOC646360 646360 genome.wustl.edu 37 10 37627438 37627438 + RNA SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_078419.1 +1 model NULL 1.000 79 0% 61 41% - - - - - - ZNF25 219749 genome.wustl.edu 37 10 38241845 38241845 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145011.2 -1 provisional p.R194I 1.000 331 0% 270 31.1% - - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF25 219749 genome.wustl.edu 37 10 38242106 38242106 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145011.2 -1 provisional p.K107T 0.012 137 0% 86 45.3% - - benign(0.079) tolerated(0.58) neutral(0.010) superfamily_C2H2 and C2HC zinc fingers LOC340947 340947 genome.wustl.edu 37 10 38369787 38369787 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001131609.2 -1 model p.E50K 0.059 100 0% 60 21.7% - - - - - HMMPfam_Paf67 ZNF37A 7587 genome.wustl.edu 37 10 38407287 38407287 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001007094.2 +1 validated p.R403I 0.992 194 0% 125 37.6% - - probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF33B 7582 genome.wustl.edu 37 10 43127851 43127851 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006955.1 -1 provisional p.D16Y 0.990 325 0% 214 42.5% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box BMS1 9790 genome.wustl.edu 37 10 43318579 43318579 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014753.3 +1 reviewed p.S1049Y 1.000 128 0% 36 38.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF663 RASGEF1A 221002 genome.wustl.edu 37 10 43693520 43693520 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145313.2 -1 validated p.V386I 1.000 395 0% 254 48% - - benign(0) tolerated(1) - HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF HNRNPF 3185 genome.wustl.edu 37 10 43882868 43882868 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098204.1 -1 reviewed p.A155 0.998 273 0% 195 46.7% - - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD RASSF4 83937 genome.wustl.edu 37 10 45479492 45479492 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032023.3 +1 reviewed p.G102R 0.000 93 0% 47 31.9% - - possibly_damaging(0.939) deleterious(0.01) deleterious(0.790) NULL ZNF22 7570 genome.wustl.edu 37 10 45499124 45499124 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006963.4 +1 validated p.R103Q 0.414 161 0% 105 50.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ALOX5 240 genome.wustl.edu 37 10 45924146 45924146 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000698.2 +1 reviewed p.F305 1.000 228 0% 158 33.5% - - - - - HMMPfam_Lipoxygenase,superfamily_Lipoxygenase GPRIN2 9721 genome.wustl.edu 37 10 46999403 46999403 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014696.3 +1 validated p.D175N 0.001 43 0% 41 31.7% - - possibly_damaging(0.482) tolerated(0.07) deleterious(0.479) NULL RBP3 5949 genome.wustl.edu 37 10 48383977 48383977 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002900.2 -1 reviewed p.I1085 0.486 280 0% 116 44.8% - - - - - HMMPfam_Peptidase_S41,HMMSmart_SM00245,superfamily_ClpP/crotonase RBP3 5949 genome.wustl.edu 37 10 48389546 48389546 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002900.2 -1 reviewed p.F444 0.798 38 0% 29 48.3% - - - - - HMMPfam_Peptidase_S41,HMMSmart_SM00245,superfamily_ClpP/crotonase GDF2 2658 genome.wustl.edu 37 10 48416375 48416375 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016204.1 -1 reviewed p.N107D 1.000 83 0% 62 51.6% - - possibly_damaging(0.445) tolerated(0.14) neutral(0.395) HMMPfam_TGFb_propeptide GDF2 2658 genome.wustl.edu 37 10 48416464 48416464 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016204.1 -1 reviewed p.S77L 0.793 98 0% 88 15.9% - - benign(0.005) tolerated(0.11) neutral(0.272) HMMPfam_TGFb_propeptide FRMPD2 143162 genome.wustl.edu 37 10 49371459 49371459 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001018071.3 -1 reviewed p.E1265* 0.027 772 0% 548 21.2% - - - - - NULL FRMPD2 143162 genome.wustl.edu 37 10 49388938 49388938 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001018071.3 -1 reviewed p.D900N 0.677 240 0% 99 24.2% - - benign(0.003) deleterious(0.01) neutral(0.406) NULL FRMPD2 143162 genome.wustl.edu 37 10 49450285 49450285 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001018071.3 -1 reviewed p.E162 0.551 96 0% 76 23.7% - - - - - HMMSmart_SM00750 MAPK8 5599 genome.wustl.edu 37 10 49639235 49639235 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139047.1 +1 reviewed e10-1 1.000 308 0% 124 31.5% - - - - - - WDFY4 57705 genome.wustl.edu 37 10 49917924 49917924 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020945.1 +1 validated p.R49 1.000 208 0% 121 34.7% - - - - - NULL WDFY4 57705 genome.wustl.edu 37 10 49983783 49983783 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020945.1 +1 validated p.S932* 0.000 515 0% 307 30.9% - - - - - NULL WDFY4 57705 genome.wustl.edu 37 10 49998895 49998895 + Missense_Mutation SNP T T A rs78668594 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020945.1 +1 validated p.V1397D 1.000 318 0% 205 28.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL WDFY4 57705 genome.wustl.edu 37 10 50085200 50085200 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020945.1 +1 validated p.R2375W 0.846 100 1% 78 42.3% - - probably_damaging(0.986) deleterious(0.02) deleterious(0.818) NULL LRRC18 474354 genome.wustl.edu 37 10 50121533 50121533 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001006939.3 -1 validated p.R223I 0.585 571 0% 318 45.9% - - benign(0.173) deleterious(0.02) neutral(0.399) NULL LRRC18 474354 genome.wustl.edu 37 10 50121613 50121613 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001006939.3 -1 validated p.E196D 0.000 583 0% 313 30% - - benign(0.01) tolerated(0.29) neutral(0.030) NULL WDFY4 57705 genome.wustl.edu 37 10 50167796 50167796 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020945.1 +1 validated p.D2721Y 1.000 117 0% 84 14.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Beach,superfamily_BEACH domain WDFY4 57705 genome.wustl.edu 37 10 50177207 50177207 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020945.1 +1 validated p.V2895M 0.157 287 0% 170 37.6% - - benign(0.003) deleterious(0.01) neutral(0.406) superfamily_WD40 repeat-like C10orf71 118461 genome.wustl.edu 37 10 50531155 50531155 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135196.1 +1 validated p.D189N 0.940 71 0% 50 40% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL C10orf71 118461 genome.wustl.edu 37 10 50532375 50532375 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135196.1 +1 validated p.P595 0.000 129 0% 72 41.7% - - - - - NULL DRGX 644168 genome.wustl.edu 37 10 50574212 50574212 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080520.1 -1 provisional p.Q252H 0.998 194 0.5% 116 23.3% - - benign(0.004) deleterious(0.01) neutral(0.406) NULL ERCC6 2074 genome.wustl.edu 37 10 50682124 50682124 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000124.2 -1 reviewed p.K849N 0.997 272 0% 138 40.6% - - benign(0.256) deleterious(0.01) neutral(0.432) superfamily_SSF52540 ERCC6 2074 genome.wustl.edu 37 10 50740827 50740827 + Missense_Mutation SNP C C T rs186839348 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000124.2 -1 reviewed p.A62T 0.000 197 0% 180 42.2% - - benign(0.231) tolerated(0.39) neutral(0.039) NULL SLC18A3 6572 genome.wustl.edu 37 10 50819294 50819294 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003055.2 +1 reviewed p.A170T 1.000 53 0% 52 48.1% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC18A3 6572 genome.wustl.edu 37 10 50819455 50819455 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003055.2 +1 reviewed p.F223 1.000 36 0% 37 43.2% - - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC18A3 6572 genome.wustl.edu 37 10 50819650 50819650 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003055.2 +1 reviewed p.D288 1.000 31 0% 47 55.3% - - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter OGDHL 55753 genome.wustl.edu 37 10 50953962 50953962 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018245.2 -1 validated p.R453L 1.000 131 0% 106 34% - - probably_damaging(0.999) tolerated(0.16) deleterious(0.550) HMMPfam_E1_dh,superfamily_SSF52518 OGDHL 55753 genome.wustl.edu 37 10 50957843 50957843 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018245.2 -1 validated p.A306T 1.000 55 0% 57 40.4% - - probably_damaging(0.998) tolerated(0.19) deleterious(0.524) HMMPfam_E1_dh,superfamily_SSF52518 AGAP7 653268 genome.wustl.edu 37 10 51480509 51480509 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077685.1 -1 provisional p.S104N 0.275 317 0% 128 25.8% - - possibly_damaging(0.484) deleterious(0.01) deleterious(0.566) NULL AGAP7 653268 genome.wustl.edu 37 10 51485557 51485557 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000416142 -1 known p.R92K 0.013 46 0% 26 34.6% - - - - - NULL AGAP6 414189 genome.wustl.edu 37 10 51761796 51761796 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077665.2 +1 validated p.S146L 1.000 480 0% 234 29.1% - - benign(0) deleterious(0) neutral(0.445) NULL AGAP6 414189 genome.wustl.edu 37 10 51761844 51761844 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077665.2 +1 validated p.M162T 0.991 397 0% 217 38.2% - - benign(0.281) deleterious(0) deleterious(0.530) NULL FAM21A 387680 genome.wustl.edu 37 10 51890818 51890818 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005751.1 +1 validated p.S1289Y 1.000 390 0.3% 202 31.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SGMS1 259230 genome.wustl.edu 37 10 52087080 52087080 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_147156.3 -1 reviewed p.S209Y 1.000 172 0% 79 27.8% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL A1CF 29974 genome.wustl.edu 37 10 52595982 52595982 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138932.1 -1 reviewed p.I152 0.987 249 0% 187 28.3% - - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD A1CF 29974 genome.wustl.edu 37 10 52601657 52601657 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138932.1 -1 reviewed p.K110N 0.998 492 0% 259 13.9% - - benign(0.001) tolerated(0.37) neutral(0.019) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD CSTF2T 23283 genome.wustl.edu 37 10 53458330 53458330 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015235.2 -1 validated p.R327Q 1.000 87 0% 53 30.2% - - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL PCDH15 65217 genome.wustl.edu 37 10 55582784 55582784 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142763.1 -1 reviewed p.E1575* 0.980 130 0% 81 51.9% - - - - - NULL PCDH15 65217 genome.wustl.edu 37 10 55583126 55583126 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000419320 -1 known p.L1402F 1.000 360 0% 145 40% - - - - - NULL PCDH15 65217 genome.wustl.edu 37 10 55839152 55839152 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142763.1 -1 reviewed p.D682G 1.000 470 0% 240 39.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH15 65217 genome.wustl.edu 37 10 55913041 55913041 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142763.1 -1 reviewed p.D540N 1.000 221 0% 126 35.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH15 65217 genome.wustl.edu 37 10 55945014 55945014 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142763.1 -1 reviewed p.E445 1.000 371 0% 139 41% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like TFAM 7019 genome.wustl.edu 37 10 60154787 60154787 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003201.1 +1 provisional p.R232C 0.995 291 0% 108 38% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HMG-box BICC1 80114 genome.wustl.edu 37 10 60544779 60544779 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080512.1 +1 reviewed p.S109Y 1.000 198 0% 125 51.2% - - probably_damaging(0.991) tolerated(1) neutral(0.444) HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I) SLC16A9 220963 genome.wustl.edu 37 10 61412569 61412569 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194298.2 -1 validated p.A497 0.996 206 0% 105 44.8% - - - - - NULL ANK3 288 genome.wustl.edu 37 10 61828930 61828930 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020987.2 -1 reviewed p.T3903 0.969 700 0.1% 420 36.7% - - - - - NULL ANK3 288 genome.wustl.edu 37 10 61829128 61829128 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020987.2 -1 reviewed p.G3837 0.990 739 0% 429 42% - - - - - NULL ANK3 288 genome.wustl.edu 37 10 61831711 61831711 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020987.2 -1 reviewed p.P2976 0.024 145 0% 116 26.7% - - - - - NULL ANK3 288 genome.wustl.edu 37 10 61833539 61833539 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020987.2 -1 reviewed p.R2367Q 1.000 250 0% 180 33.3% - - benign(0.297) - - NULL ANK3 288 genome.wustl.edu 37 10 61833637 61833637 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020987.2 -1 reviewed p.I2334 1.000 193 0% 129 39.5% - - - - - NULL ANK3 288 genome.wustl.edu 37 10 61994481 61994481 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020987.2 -1 reviewed p.L288F 1.000 411 0% 263 43.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK RHOBTB1 9886 genome.wustl.edu 37 10 62648103 62648103 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014836.4 -1 reviewed p.E441 1.000 296 0% 207 41.5% - - - - - HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB RHOBTB1 9886 genome.wustl.edu 37 10 62648581 62648581 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014836.4 -1 reviewed p.R282Q 1.000 380 0% 194 16.5% - - possibly_damaging(0.86) deleterious(0.02) deleterious(0.716) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB ARID5B 84159 genome.wustl.edu 37 10 63662137 63662137 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032199.2 +1 validated p.D81Y 1.000 125 0% 71 18.3% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL ARID5B 84159 genome.wustl.edu 37 10 63829495 63829495 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032199.2 +1 validated p.E380* 1.000 125 0% 93 32.3% - - - - - HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like ARID5B 84159 genome.wustl.edu 37 10 63845621 63845621 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032199.2 +1 validated p.E454* 1.000 203 0% 59 50.8% - - - - - NULL ARID5B 84159 genome.wustl.edu 37 10 63852488 63852488 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032199.2 +1 validated p.S1089L 0.989 56 0% 74 29.7% - - possibly_damaging(0.69) deleterious(0) deleterious(0.692) NULL ZNF365 22891 genome.wustl.edu 37 10 64136452 64136452 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199451.2 +1 reviewed p.R167Q 0.981 107 0.9% 62 45.2% - - benign(0.023) deleterious(0.04) neutral(0.350) NULL REEP3 221035 genome.wustl.edu 37 10 65326133 65326133 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001330.2 +1 validated p.S23* 1.000 521 0% 235 33.6% - - - - - HMMPfam_TB2_DP1_HVA22 CTNNA3 29119 genome.wustl.edu 37 10 67680211 67680211 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127384.1 -1 validated p.K855N 0.998 358 0% 178 34.8% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Vinculin CTNNA3 29119 genome.wustl.edu 37 10 68535223 68535223 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127384.1 -1 validated p.K369N 1.000 393 0% 234 39.7% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Vinculin MYPN 84665 genome.wustl.edu 37 10 69881406 69881406 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032578.2 +1 validated p.E71* 1.000 68 0% 40 27.5% - - - - - NULL HNRNPH3 3189 genome.wustl.edu 37 10 70101798 70101798 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012207.2 +1 reviewed p.R343H 1.000 546 0% 361 26.9% - - unknown(0) tolerated(0.11) - NULL RUFY2 55680 genome.wustl.edu 37 10 70123758 70123758 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017987.4 -1 validated p.I515L 1.000 320 0% 219 31.5% - - benign(0) tolerated(0.92) - NULL RUFY2 55680 genome.wustl.edu 37 10 70153874 70153874 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017987.4 -1 validated p.S216Y 1.000 186 0% 83 38.6% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DNA2 1763 genome.wustl.edu 37 10 70202712 70202712 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080449.1 -1 provisional p.K545N 0.744 329 0% 175 26.9% - - benign(0.004) tolerated(0.05) neutral(0.345) NULL SLC25A16 8034 genome.wustl.edu 37 10 70243299 70243299 + Nonsense_Mutation SNP G G A rs139107749 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152707.2 -1 reviewed p.R297* 0.999 240 0% 139 38.8% - - - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr TET1 80312 genome.wustl.edu 37 10 70332565 70332565 + Missense_Mutation SNP C C T rs185830524 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030625.2 +1 validated p.S157L 0.048 107 0% 70 34.3% - - benign(0) deleterious(0) neutral(0.445) NULL TET1 80312 genome.wustl.edu 37 10 70333934 70333934 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030625.2 +1 validated p.K613 0.999 149 0% 63 36.5% - - - - - HMMPfam_zf-CXXC TET1 80312 genome.wustl.edu 37 10 70405115 70405115 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030625.2 +1 validated p.L877I 0.987 137 0% 85 44.7% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL TET1 80312 genome.wustl.edu 37 10 70406306 70406306 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030625.2 +1 validated p.G1274W 0.002 186 0% 118 11% - - benign(0.368) deleterious(0) deleterious(0.561) NULL TET1 80312 genome.wustl.edu 37 10 70446447 70446447 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030625.2 +1 validated p.S1796L 0.011 153 0% 72 31.9% - - possibly_damaging(0.49) deleterious(0.02) deleterious(0.546) NULL CCAR1 55749 genome.wustl.edu 37 10 70502287 70502287 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018237.2 +1 validated p.T160M 1.000 598 0% 388 14.4% - - unknown(0) deleterious(0) - NULL CCAR1 55749 genome.wustl.edu 37 10 70530990 70530990 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018237.2 +1 validated p.E776K 1.000 267 0% 165 42.4% - - unknown(0) deleterious(0) - NULL ENSG00000247499 0 genome.wustl.edu 37 10 70545792 70545792 + RNA SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000501160 -1 known NULL 0.000 109 0% 58 46.6% - - - - - - KIAA1279 26128 genome.wustl.edu 37 10 70775964 70775964 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015634.3 +1 reviewed p.L553R 1.000 262 0% 172 33.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SRGN 5552 genome.wustl.edu 37 10 70863772 70863772 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002727.2 +1 reviewed p.E125K 0.003 200 0% 146 43.8% - - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMPfam_Serglycin VPS26A 9559 genome.wustl.edu 37 10 70892786 70892786 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004896.3 +1 reviewed p.E46* 1.000 329 0% 137 31.4% - - - - - HMMPfam_Vps26 HK1 3098 genome.wustl.edu 37 10 71124572 71124572 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033497.2 +1 reviewed p.F141V 1.000 345 0% 239 33.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hexokinase_1,superfamily_SSF53067 HK1 3098 genome.wustl.edu 37 10 71139727 71139727 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033497.2 +1 reviewed p.R385C 1.000 169 0% 183 36.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hexokinase_2,superfamily_SSF53067 C10orf35 219738 genome.wustl.edu 37 10 71392759 71392759 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145306.2 +1 validated p.R104C 0.922 429 0.2% 274 38.7% - - probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL COL13A1 1305 genome.wustl.edu 37 10 71681680 71681680 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130103.1 +1 reviewed p.L367 0.982 172 0% 92 41.3% - - - - - HMMPfam_Collagen AIFM2 84883 genome.wustl.edu 37 10 71874781 71874781 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032797.4 -1 reviewed p.V289M 0.001 78 0% 80 35% - - possibly_damaging(0.539) deleterious(0.03) deleterious(0.547) HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain AIFM2 84883 genome.wustl.edu 37 10 71880334 71880334 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032797.4 -1 reviewed p.V146M 0.896 325 0% 243 42.8% - - probably_damaging(0.964) deleterious(0.02) deleterious(0.789) HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain NODAL 4838 genome.wustl.edu 37 10 72195223 72195223 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018055.4 -1 reviewed p.R237Q 0.666 101 0% 80 42.5% - - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) superfamily_SSF57501 SGPL1 8879 genome.wustl.edu 37 10 72614587 72614587 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003901.3 +1 validated p.E128D 0.994 414 0% 227 44.9% - - benign(0) tolerated(0.42) neutral(0.014) superfamily_PLP-dependent transferases SGPL1 8879 genome.wustl.edu 37 10 72619247 72619247 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000409118 +1 known p.R116L 0.999 206 0% 112 32.1% - - - - - superfamily_PLP-dependent transferases SLC29A3 55315 genome.wustl.edu 37 10 73122283 73122283 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000373189 +1 known p.T449M 1.000 68 0% 79 49.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nucleoside_tran CHST3 9469 genome.wustl.edu 37 10 73767336 73767336 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004273.4 +1 reviewed p.G183C 0.997 10 0% 21 23.8% - - possibly_damaging(0.939) tolerated(0.16) neutral(0.444) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 ENSG00000226163 0 genome.wustl.edu 37 10 74262593 74262593 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000431638 +1 known NULL 0.056 48 0% 29 27.6% - - - - - - OIT3 170392 genome.wustl.edu 37 10 74692257 74692257 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152635.1 +1 provisional p.P538L 1.000 58 1.7% 70 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SYNPO2L 79933 genome.wustl.edu 37 10 75413202 75413202 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001114133.1 -1 validated p.R156Q 1.000 75 0% 67 46.3% - - possibly_damaging(0.867) deleterious(0) deleterious(0.781) NULL AGAP5 729092 genome.wustl.edu 37 10 75435316 75435316 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144000.1 -1 validated p.D368N 1.000 282 0.4% 130 26.9% - - possibly_damaging(0.912) tolerated(0.16) neutral(0.423) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SEC24C 9632 genome.wustl.edu 37 10 75510877 75510877 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004922.2 +1 reviewed p.A62T 1.000 138 0% 116 35.3% - - benign(0.002) tolerated(0.58) neutral(0.005) NULL KIAA0913 23053 genome.wustl.edu 37 10 75548897 75548897 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015037.2 +1 validated p.R136* 1.000 281 0% 250 12.8% - - - - - NULL PLAU 5328 genome.wustl.edu 37 10 75674544 75674544 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002658.3 +1 reviewed p.K280N 1.000 114 0% 128 39.1% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases VCL 7414 genome.wustl.edu 37 10 75849096 75849096 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014000.2 +1 reviewed p.D389N 1.000 152 0% 94 37.2% - - probably_damaging(0.997) tolerated(0.21) deleterious(0.510) PatternScan_VINCULIN_2,HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin VCL 7414 genome.wustl.edu 37 10 75849811 75849811 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014000.2 +1 reviewed p.E403K 1.000 216 0% 158 45.6% - - probably_damaging(0.982) tolerated(0.91) neutral(0.426) HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin KAT6B 23522 genome.wustl.edu 37 10 76735812 76735812 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012330.2 +1 validated p.R573C 1.000 256 0.4% 140 40% - - possibly_damaging(0.936) deleterious(0) deleterious(0.826) NULL KAT6B 23522 genome.wustl.edu 37 10 76735985 76735985 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012330.2 +1 validated p.R630 1.000 85 0% 28 28.6% - - - - - NULL KCNMA1 3778 genome.wustl.edu 37 10 78713680 78713680 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001014797.2 -1 reviewed p.H734R 1.000 227 0% 150 34% - - benign(0.019) tolerated(0.42) neutral(0.015) NULL KCNMA1 3778 genome.wustl.edu 37 10 78832990 78832990 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000372403 -1 known p.R489Q 0.206 176 0% 146 34.2% - - - - - HMMPfam_BK_channel_a,superfamily_NAD(P)-binding Rossmann-fold domains DLG5 9231 genome.wustl.edu 37 10 79569450 79569450 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004747.3 -1 reviewed p.R1501H 0.943 297 0% 144 34.7% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_PDZ,superfamily_PDZ domain-like DLG5 9231 genome.wustl.edu 37 10 79580969 79580969 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004747.3 -1 reviewed p.K1091N 1.000 80 0% 61 16.4% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL DLG5 9231 genome.wustl.edu 37 10 79589197 79589197 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004747.3 -1 reviewed p.A701T 0.998 226 0% 176 38.1% - - unknown(0) tolerated(0.38) - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like DLG5 9231 genome.wustl.edu 37 10 79595529 79595529 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004747.3 -1 reviewed p.R530Q 1.000 110 0% 133 44.4% - - unknown(0) deleterious(0) - NULL ZMIZ1 57178 genome.wustl.edu 37 10 81036951 81036951 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020338.3 +1 validated p.S98 1.000 55 0% 46 50% - - - - - NULL PPIF 10105 genome.wustl.edu 37 10 81111291 81111291 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005729.3 +1 reviewed p.G122R 1.000 74 0% 62 56.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pro_isomerase,superfamily_CSA_PPIase SFTPA2 729238 genome.wustl.edu 37 10 81317181 81317181 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098668.2 -1 reviewed p.F177 0.259 325 0% 209 37.8% - - - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like SFTPD 6441 genome.wustl.edu 37 10 81697613 81697613 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003019.4 -1 validated p.F375L 1.000 319 0% 212 28.8% - - benign(0.264) - - HMMPfam_Lectin_C,superfamily_C-type lectin-like MAT1A 4143 genome.wustl.edu 37 10 82040061 82040061 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000429.2 -1 reviewed p.F139 0.155 79 0% 53 34% - - - - - HMMPfam_S-AdoMet_synt_M,PatternScan_ADOMET_SYNTHETASE_1,superfamily_S-AdoMet_synt DYDC1 143241 genome.wustl.edu 37 10 82098286 82098286 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138812.2 -1 provisional p.S147 0.786 388 0% 218 22.9% - - - - - NULL DYDC1 143241 genome.wustl.edu 37 10 82102039 82102039 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138812.2 -1 provisional p.E110* 0.094 574 0% 242 26.4% - - - - - NULL DYDC1 143241 genome.wustl.edu 37 10 82111690 82111690 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138812.2 -1 provisional p.E72D 0.864 378 0% 228 46.1% - - benign(0.009) tolerated(0.1) neutral(0.287) NULL NRG3 10718 genome.wustl.edu 37 10 83926576 83926576 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000404576 +1 known p.K52Q 0.002 446 0% 234 35.9% - - benign(0.139) tolerated(0.05) neutral(0.357) NULL NRG3 10718 genome.wustl.edu 37 10 84118578 84118578 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010848.3 +1 reviewed p.E303K 1.000 176 0% 116 19.8% - - probably_damaging(0.995) tolerated(0.06) deleterious(0.780) HMMPfam_EGF,HMMSmart_EGF,superfamily_SSF57196 NRG3 10718 genome.wustl.edu 37 10 84118592 84118592 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010848.3 +1 reviewed p.I307 0.898 156 0% 107 29.9% - - - - - HMMPfam_EGF,HMMSmart_EGF,superfamily_SSF57196 NRG3 10718 genome.wustl.edu 37 10 84745302 84745302 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010848.3 +1 reviewed p.R678* 1.000 108 0% 66 40.9% - - - - - NULL CDHR1 92211 genome.wustl.edu 37 10 85962865 85962865 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033100.2 +1 reviewed p.E257K 1.000 253 0.4% 201 28.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,superfamily_Cadherin-like LRIT1 26103 genome.wustl.edu 37 10 85993929 85993929 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015613.2 -1 validated p.S265 0.698 62 0% 46 34.8% - - - - - superfamily_SSF48726,superfamily_SSF52058 FAM190B 54462 genome.wustl.edu 37 10 86131904 86131904 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018999.2 +1 validated p.E366* 0.842 172 0% 125 18.4% - - - - - NULL OPN4 94233 genome.wustl.edu 37 10 88416962 88416962 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001030015.2 +1 validated p.R101C 0.004 342 0% 234 11.5% - - benign(0.016) tolerated(0.07) neutral(0.320) HMMPfam_7tm_1,superfamily_SSF81321 LDB3 11155 genome.wustl.edu 37 10 88459050 88459050 + Silent SNP G G A rs144445130 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080115.1 +1 reviewed p.T304 1.000 137 0% 88 42% - - - - - NULL AGAP11 119385 genome.wustl.edu 37 10 88768782 88768782 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133447.1 +1 validated p.N258S 1.000 166 0% 87 36.8% - - - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 AGAP11 119385 genome.wustl.edu 37 10 88769651 88769651 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133447.1 +1 validated p.E548K 1.000 208 0% 126 10.3% - - - - - HMMSmart_ANK FAM35A 54537 genome.wustl.edu 37 10 88911896 88911896 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019054.2 +1 validated p.R262Q 0.088 213 0% 97 27.8% - - benign(0) tolerated(1) - NULL FAM22D 728130 genome.wustl.edu 37 10 89125940 89125940 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000451669 +1 known p.E99K 0.000 277 0% 184 19% - - - - - NULL PAPSS2 9060 genome.wustl.edu 37 10 89487091 89487091 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001015880.1 +1 reviewed p.D311N 0.841 289 0% 140 40% - - benign(0) tolerated(0.09) neutral(0.296) HMMPfam_ATP-sulfurylase,superfamily_PUA-like ATAD1 84896 genome.wustl.edu 37 10 89516601 89516601 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032810.2 -1 provisional p.R304* 0.999 377 0% 171 34.5% - - - - - HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A rs121913292 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000371953 +1 known p.R130Q 1.000 390 0% 194 41.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89717695 89717695 + Nonsense_Mutation SNP C C A rs190070312 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000371953 +1 known p.Y240* 1.000 272 0% 180 31.1% - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 PTEN 5728 genome.wustl.edu 37 10 89720749 89720749 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000371953 +1 known p.I300 1.000 359 0% 132 26.5% - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 LIPJ 142910 genome.wustl.edu 37 10 90350986 90350986 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000394381 +1 known p.Q3K 0.114 17 0.000 9 0.444 - - - - - HMMPfam_Abhydro_lipase,superfamily_alpha/beta-Hydrolases LIPF 8513 genome.wustl.edu 37 10 90427426 90427426 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004190.2 +1 reviewed p.K69T 0.012 152 0% 99 31.3% - - benign(0) tolerated(0.52) neutral(0.009) HMMPfam_Abhydro_lipase,superfamily_alpha/beta-Hydrolases IFIT3 3437 genome.wustl.edu 37 10 91099366 91099366 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031683.2 +1 validated p.S318 0.000 91 0% 49 20.4% - - - - - superfamily_TPR-like IFIT1B 439996 genome.wustl.edu 37 10 91143855 91143855 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010987.2 +1 validated p.R262Q 0.001 193 0% 83 42.2% - - possibly_damaging(0.95) tolerated(0.15) deleterious(0.635) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like IFIT1 3434 genome.wustl.edu 37 10 91163048 91163048 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001548.3 +1 validated p.F339C 0.998 88 0% 42 23.8% - - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) superfamily_TPR-like PANK1 53354 genome.wustl.edu 37 10 91348507 91348507 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_148977.1 -1 reviewed p.N547H 1.000 177 0% 75 10.7% - - probably_damaging(0.999) tolerated(0.11) deleterious(0.762) HMMPfam_Fumble,superfamily_Actin-like ATPase domain PANK1 53354 genome.wustl.edu 37 10 91359050 91359050 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_148977.1 -1 reviewed p.A423 0.457 431 0% 207 46.4% - - - - - HMMPfam_Fumble,superfamily_Actin-like ATPase domain PANK1 53354 genome.wustl.edu 37 10 91371471 91371471 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_148977.1 -1 reviewed p.F346 0.088 120 0% 62 40.3% - - - - - HMMPfam_Fumble,superfamily_Actin-like ATPase domain KIF20B 9585 genome.wustl.edu 37 10 91479254 91479254 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016195.2 +1 validated p.D505Y 0.000 113 0% 65 32.3% - - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL KIF20B 9585 genome.wustl.edu 37 10 91498252 91498252 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016195.2 +1 validated p.L1178 0.966 135 0% 43 51.2% - - - - - NULL KIF20B 9585 genome.wustl.edu 37 10 91520314 91520314 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016195.2 +1 validated p.R1531H 0.000 287 0% 153 37.3% - - benign(0) tolerated(0.43) neutral(0.013) NULL ANKRD1 27063 genome.wustl.edu 37 10 92672640 92672640 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014391.2 -1 reviewed p.R315C 1.000 558 0% 312 37.8% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL ANKRD1 27063 genome.wustl.edu 37 10 92675935 92675935 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014391.2 -1 reviewed p.R215Q 1.000 150 0% 94 40.4% - - possibly_damaging(0.855) tolerated(0.14) deleterious(0.580) HMMPfam_Ank,superfamily_ANK CPEB3 22849 genome.wustl.edu 37 10 93904779 93904779 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014912.4 -1 validated p.R429H 1.000 238 0% 130 33.8% - - benign(0.003) tolerated(0.82) neutral(0.001) superfamily_RNA-binding domain RBD CPEB3 22849 genome.wustl.edu 37 10 93999739 93999739 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014912.4 -1 validated p.F123 1.000 102 0% 37 18.9% - - - - - NULL IDE 3416 genome.wustl.edu 37 10 94268632 94268632 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004969.3 -1 reviewed p.V305L 1.000 290 0.3% 140 38.6% - - probably_damaging(0.984) deleterious(0.01) deleterious(0.836) HMMPfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd KIF11 3832 genome.wustl.edu 37 10 94390097 94390097 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004523.3 +1 reviewed p.E490D 1.000 102 0% 66 24.2% - - benign(0.017) tolerated(0.44) neutral(0.013) NULL KIF11 3832 genome.wustl.edu 37 10 94413534 94413534 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004523.3 +1 reviewed p.R1051Q 0.981 230 0% 96 30.2% - - probably_damaging(0.992) deleterious(0.03) deleterious(0.812) NULL HHEX 3087 genome.wustl.edu 37 10 94452231 94452231 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002729.4 +1 reviewed p.F156 1.000 88 0% 52 50% - - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like EXOC6 54536 genome.wustl.edu 37 10 94654733 94654733 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019053.4 +1 reviewed p.R123I 1.000 399 0% 251 40.2% - - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL EXOC6 54536 genome.wustl.edu 37 10 94818035 94818035 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019053.4 +1 reviewed p.R780* 1.000 244 0% 116 44% - - - - - HMMPfam_Sec15 CYP26A1 1592 genome.wustl.edu 37 10 94836761 94836761 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000783.3 +1 reviewed p.I398 1.000 139 0% 90 40% - - - - - HMMPfam_p450,superfamily_Cytochrome_P450 MYOF 26509 genome.wustl.edu 37 10 95085627 95085627 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013451.3 -1 reviewed p.E1743K 1.000 228 0% 136 48.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYOF 26509 genome.wustl.edu 37 10 95132775 95132775 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013451.3 -1 reviewed p.R790Q 0.997 464 0% 325 11.1% - - probably_damaging(0.991) tolerated(0.11) deleterious(0.716) HMMPfam_FerB CEP55 55165 genome.wustl.edu 37 10 95276942 95276942 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127182.1 +1 validated p.E310D 1.000 271 0% 88 43.2% - - probably_damaging(0.996) deleterious(0.05) deleterious(0.807) NULL PDE6C 5146 genome.wustl.edu 37 10 95372879 95372879 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006204.3 +1 reviewed p.E133* 1.000 51 0% 33 39.4% - - - - - HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF55781 SLC35G1 159371 genome.wustl.edu 37 10 95658449 95658449 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134658.1 +1 validated p.I100M 1.000 771 0% 477 33.8% - - possibly_damaging(0.807) tolerated(0.1) deleterious(0.591) HMMPfam_DUF6 PLCE1 51196 genome.wustl.edu 37 10 95790985 95790985 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016341.3 +1 reviewed p.K61T 0.011 111 0% 76 43.4% - - benign(0) deleterious(0) neutral(0.445) NULL PLCE1 51196 genome.wustl.edu 37 10 96043635 96043635 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016341.3 +1 reviewed p.K1628N 1.000 255 0% 146 30.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_PLC-like phosphodiesterases PLCE1 51196 genome.wustl.edu 37 10 96081764 96081764 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016341.3 +1 reviewed p.R2150Q 0.915 331 0.3% 209 33% - - probably_damaging(0.979) tolerated(0.16) deleterious(0.481) HMMPfam_RA,HMMSmart_SM00314 NOC3L 64318 genome.wustl.edu 37 10 96117053 96117053 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022451.9 -1 provisional p.R129H 0.000 317 0% 170 36.5% - - benign(0) tolerated(0.16) neutral(0.059) NULL HELLS 3070 genome.wustl.edu 37 10 96342766 96342766 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018063.3 +1 reviewed p.D426Y 1.000 489 0% 301 35.5% - - possibly_damaging(0.661) deleterious(0.03) deleterious(0.598) HMMPfam_SNF2_N CYP2C18 1562 genome.wustl.edu 37 10 96495180 96495180 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000772.2 +1 reviewed p.Q484 0.776 479 0% 330 33.9% - - - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP2C19 1557 genome.wustl.edu 37 10 96540335 96540335 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000769.1 +1 reviewed p.F187 0.998 634 0% 309 45% - - - - - HMMPfam_p450,superfamily_Cytochrome_P450 CYP2C19 1557 genome.wustl.edu 37 10 96540336 96540336 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000769.1 +1 reviewed p.D188N 0.996 622 0% 303 32.3% - - benign(0.008) deleterious(0.02) neutral(0.383) HMMPfam_p450,superfamily_Cytochrome_P450 CYP2C19 1557 genome.wustl.edu 37 10 96580252 96580252 + Splice_Site SNP G G T rs59705169 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000769.1 +1 reviewed e6-1 0.991 356 0% 211 29.9% - - - - - - C10orf129 142827 genome.wustl.edu 37 10 96979659 96979659 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000430183 +1 known p.V181A 0.790 240 0% 167 40.1% - - benign(0.003) tolerated(0.17) neutral(0.059) NULL C10orf129 142827 genome.wustl.edu 37 10 96985103 96985103 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207321.2 +1 validated p.I419 0.015 338 0% 206 32.5% - - - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like PDLIM1 9124 genome.wustl.edu 37 10 97007027 97007027 + Silent SNP C C T rs141682059 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020992.2 -1 provisional p.P210 0.000 300 0% 179 45.8% - - - - - NULL SORBS1 10580 genome.wustl.edu 37 10 97144009 97144009 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001034954.1 -1 validated p.S465* 1.000 285 0% 213 36.6% - - - - - NULL ENTPD1 953 genome.wustl.edu 37 10 97605310 97605310 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098175.1 +1 validated p.W252* 1.000 161 0% 77 41.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF518A 9849 genome.wustl.edu 37 10 97917407 97917407 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000371192 +1 known p.T443M 1.000 159 0% 96 32.3% - - - - - NULL BLNK 29760 genome.wustl.edu 37 10 97951817 97951817 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013314.3 -1 reviewed p.N428T 1.000 552 0% 350 43.7% - - unknown(0) deleterious(0) - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain DNTT 1791 genome.wustl.edu 37 10 98087354 98087354 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004088.3 +1 reviewed p.R335Q 1.000 285 0% 185 35.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00483,HMMPfam_NTP_transf_2,PatternScan_DNA_POLYMERASE_X,superfamily_Nucleotidyltransferase TM9SF3 56889 genome.wustl.edu 37 10 98312772 98312772 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020123.3 -1 validated p.F235L 1.000 359 0% 197 40.6% - - probably_damaging(0.999) tolerated(0.52) deleterious(0.499) HMMPfam_EMP70 LCOR 84458 genome.wustl.edu 37 10 98715673 98715673 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032440.3 +1 validated p.N432 0.964 64 0% 31 12.9% - - - - - NULL C10orf12 26148 genome.wustl.edu 37 10 98743360 98743360 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015652.2 +1 predicted p.S738Y 0.146 137 0% 89 30.3% - - possibly_damaging(0.92) deleterious(0) deleterious(0.816) NULL ARHGAP19 84986 genome.wustl.edu 37 10 99006037 99006037 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032900.4 -1 validated p.A329T 0.922 249 0% 131 34.4% - - benign(0) tolerated(0.68) neutral(0.002) NULL CRTAC1 55118 genome.wustl.edu 37 10 99640049 99640049 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000298819 -1 known p.A578V 1.000 99 0% 83 37.3% - - possibly_damaging(0.93) - - NULL PYROXD2 84795 genome.wustl.edu 37 10 100157253 100157253 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032709.2 -1 validated p.V158 0.995 65 0% 44 34.1% - - - - - superfamily_SSF51905 HPSE2 60495 genome.wustl.edu 37 10 100249906 100249906 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021828.4 -1 reviewed p.V456 0.996 200 0% 118 10.2% - - - - - NULL CNNM1 26507 genome.wustl.edu 37 10 101090071 101090071 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020348.2 +1 validated p.F309 1.000 18 0% 17 70.6% - - - - - HMMPfam_DUF21 ABCC2 1244 genome.wustl.edu 37 10 101560210 101560210 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000392.3 +1 reviewed p.L367V 1.000 548 0% 409 32.8% - - benign(0.284) deleterious(0.01) deleterious(0.493) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC2 1244 genome.wustl.edu 37 10 101590525 101590525 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000392.3 +1 reviewed p.R934W 0.000 226 0% 72 48.6% - - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL ABCC2 1244 genome.wustl.edu 37 10 101594277 101594277 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000392.3 +1 reviewed p.I1133M 1.000 536 0% 426 36.4% - - benign(0.289) tolerated(0.05) neutral(0.434) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain DNMBP 23268 genome.wustl.edu 37 10 101716409 101716409 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015221.2 -1 validated p.A274 0.305 138 0% 103 35.9% - - - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain CHUK 1147 genome.wustl.edu 37 10 101980391 101980391 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001278.3 -1 reviewed p.R143Q 1.000 252 0% 153 37.3% - - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PKD2L1 9033 genome.wustl.edu 37 10 102050242 102050242 + Missense_Mutation SNP C C T rs6584356 byCluster;byFrequency;by2Hit2Allele;by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016112.2 -1 reviewed p.R681Q 0.023 202 0% 124 32.3% - - benign(0.017) tolerated(0.11) neutral(0.272) NULL SCD 6319 genome.wustl.edu 37 10 102116382 102116382 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005063.4 +1 validated p.F247 0.000 346 0% 244 15.2% - - - - - HMMPfam_FA_desaturase NDUFB8 4714 genome.wustl.edu 37 10 102283617 102283617 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005004.2 -1 validated p.R180W 0.978 268 0% 160 39.4% - - benign(0.037) deleterious(0.01) neutral(0.408) HMMPfam_NDUF_B8 C10orf2 56652 genome.wustl.edu 37 10 102749087 102749087 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021830.4 +1 reviewed p.R374W 0.998 67 0% 46 37% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LZTS2 84445 genome.wustl.edu 37 10 102762412 102762412 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032429.1 +1 provisional p.P39 0.744 21 0% 30 26.7% - - - - - NULL TLX1NB 100038246 genome.wustl.edu 37 10 102849331 102849331 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001085398.1 -1 validated p.R111K 0.000 192 0% 115 11.3% - - - - - NULL TLX1 3195 genome.wustl.edu 37 10 102893931 102893931 + Splice_Site SNP G G T rs2742024 byCluster TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005521.3 +1 validated e2-1 1.000 185 0% 115 35.7% - - - - - - TLX1 3195 genome.wustl.edu 37 10 102894069 102894069 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005521.3 +1 validated p.K236E 1.000 110 0% 60 40% - - possibly_damaging(0.559) deleterious(0.05) deleterious(0.536) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 BTRC 8945 genome.wustl.edu 37 10 103285923 103285923 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033637.2 +1 reviewed p.S237Y 1.000 381 0% 294 45.2% - - benign(0.065) deleterious(0.03) neutral(0.369) superfamily_F-box domain POLL 27343 genome.wustl.edu 37 10 103342453 103342453 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000416979 -1 known p.E144* 0.002 122 0% 131 39.7% - - - - - HMMSmart_SM00483 LDB1 8861 genome.wustl.edu 37 10 103867891 103867891 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001113407.1 -1 validated p.E399* 1.000 492 0% 288 30.2% - - - - - HMMPfam_LIM_bind PPRC1 23082 genome.wustl.edu 37 10 103898675 103898675 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015062.3 +1 reviewed p.R177C 0.976 231 0% 165 37% - - probably_damaging(0.999) tolerated(0.21) deleterious(0.534) NULL PPRC1 23082 genome.wustl.edu 37 10 103908158 103908158 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015062.3 +1 reviewed p.R1477Q 0.997 323 0.3% 261 49.4% - - unknown(0) tolerated(0.61) - NULL PPRC1 23082 genome.wustl.edu 37 10 103908179 103908179 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015062.3 +1 reviewed p.S1484L 0.997 351 0% 291 26.1% - - unknown(0) tolerated(0.53) - NULL NOLC1 9221 genome.wustl.edu 37 10 103919723 103919723 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004741.3 +1 validated p.K310N 1.000 285 0.4% 129 11.6% - - unknown(0) deleterious(0.03) - NULL ELOVL3 83401 genome.wustl.edu 37 10 103988606 103988606 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152310.1 +1 provisional p.R137H 0.995 149 0% 131 19.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ELO GBF1 8729 genome.wustl.edu 37 10 104129479 104129479 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004193.1 +1 provisional p.F1053 1.000 341 0% 189 46% - - - - - NULL NFKB2 4791 genome.wustl.edu 37 10 104156498 104156498 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077494.1 +1 validated p.R54Q 1.000 175 0% 127 29.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_REL_1,superfamily_p53-like transcription factors,HMMPfam_RHD PSD 5662 genome.wustl.edu 37 10 104173805 104173805 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002779.3 -1 provisional p.S425L 0.999 171 0% 92 27.2% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL PSD 5662 genome.wustl.edu 37 10 104174837 104174837 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002779.3 -1 provisional p.E303* 1.000 87 0% 91 31.9% - - - - - NULL TRIM8 81603 genome.wustl.edu 37 10 104414994 104414994 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030912.2 +1 validated p.R275H 1.000 39 0% 21 28.6% - - possibly_damaging(0.895) deleterious(0.01) deleterious(0.758) NULL CYP17A1 1586 genome.wustl.edu 37 10 104593880 104593880 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000102.3 -1 reviewed e4-1 1.000 411 0% 273 45.8% - - - - - - LOC100289608 100289608 genome.wustl.edu 37 10 104605676 104605676 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343032.1 +1 model p.S33N 0.922 187 0% 149 37.6% - - - - - NULL NT5C2 22978 genome.wustl.edu 37 10 104852955 104852955 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134373.1 -1 validated p.R367Q 1.000 240 0% 132 34.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_5_nucleotid INA 9118 genome.wustl.edu 37 10 105048340 105048340 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032727.3 +1 reviewed p.E472* 1.000 157 0% 63 12.7% - - - - - NULL TAF5 6877 genome.wustl.edu 37 10 105141577 105141577 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006951.3 +1 reviewed p.R505C 1.000 297 0% 188 22.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like PDCD11 22984 genome.wustl.edu 37 10 105184767 105184767 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014976.1 +1 validated p.A930 0.000 216 0% 155 41.3% - - - - - NULL CALHM1 255022 genome.wustl.edu 37 10 105218148 105218148 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001412.3 -1 reviewed p.D121N 1.000 15 0% 24 37.5% - - probably_damaging(0.98) tolerated(0.47) neutral(0.435) NULL CALHM3 119395 genome.wustl.edu 37 10 105233323 105233323 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001129742.1 -1 validated p.D228N 1.000 19 0% 21 33.3% - - probably_damaging(0.99) tolerated(0.15) deleterious(0.682) NULL OBFC1 79991 genome.wustl.edu 37 10 105659861 105659861 + Missense_Mutation SNP C C T rs183917764 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024928.4 -1 validated p.R139H 0.101 447 0% 268 35.4% - - benign(0.142) tolerated(0.11) neutral(0.284) HMMPfam_tRNA_anti,superfamily_Nucleic_acid_OB SLK 9748 genome.wustl.edu 37 10 105780261 105780261 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014720.2 +1 provisional p.E1113* 1.000 158 0% 58 20.7% - - - - - superfamily_Protein kinase-like (PK-like) COL17A1 1308 genome.wustl.edu 37 10 105809869 105809869 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000494.3 -1 reviewed p.E714D 1.000 199 0% 112 38.4% - - possibly_damaging(0.857) tolerated(0.24) neutral(0.368) HMMPfam_Collagen WDR96 80217 genome.wustl.edu 37 10 105893421 105893421 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025145.5 -1 provisional p.A1518V 1.000 494 0% 304 15.8% - - possibly_damaging(0.856) tolerated(0.66) neutral(0.333) NULL WDR96 80217 genome.wustl.edu 37 10 105971850 105971850 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025145.5 -1 provisional p.S217* 0.010 147 0% 123 42.3% - - - - - NULL CCDC147 159686 genome.wustl.edu 37 10 106118174 106118174 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008723.1 +1 validated p.E29* 0.997 103 0% 68 45.6% - - - - - NULL CCDC147 159686 genome.wustl.edu 37 10 106125639 106125639 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008723.1 +1 validated p.E222G 1.000 257 0% 87 37.9% - - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL CCDC147 159686 genome.wustl.edu 37 10 106153099 106153099 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008723.1 +1 validated p.D514Y 1.000 130 0% 68 26.5% - - benign(0.163) deleterious(0) neutral(0.459) NULL CCDC147 159686 genome.wustl.edu 37 10 106159246 106159246 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008723.1 +1 validated p.K601N 1.000 187 0% 99 34.3% - - probably_damaging(0.994) tolerated(0.12) deleterious(0.713) NULL CCDC147 159686 genome.wustl.edu 37 10 106160580 106160580 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008723.1 +1 validated p.R653I 1.000 284 0% 181 43.1% - - possibly_damaging(0.546) deleterious(0) deleterious(0.630) NULL CCDC147 159686 genome.wustl.edu 37 10 106207464 106207464 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008723.1 +1 validated p.E755D 1.000 51 0% 43 27.9% - - probably_damaging(0.993) tolerated(0.08) deleterious(0.750) NULL CCDC147 159686 genome.wustl.edu 37 10 106209871 106209871 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008723.1 +1 validated p.E807* 1.000 171 0.6% 74 27% - - - - - NULL CCDC147 159686 genome.wustl.edu 37 10 106209949 106209949 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008723.1 +1 validated p.E833* 1.000 140 0% 51 45.1% - - - - - NULL SORCS3 22986 genome.wustl.edu 37 10 106907446 106907446 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014978.1 +1 reviewed p.T458 0.014 528 0% 282 42.9% - - - - - HMMSmart_VPS10,superfamily_SSF110296 SORCS1 114815 genome.wustl.edu 37 10 108377996 108377996 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013031.1 -1 reviewed p.R944I 1.000 246 0% 191 35.1% - - benign(0) tolerated(0.06) neutral(0.323) HMMSmart_PKD SORCS1 114815 genome.wustl.edu 37 10 108432738 108432738 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013031.1 -1 reviewed p.F649S 1.000 113 0% 85 49.4% - - possibly_damaging(0.623) deleterious(0) deleterious(0.661) HMMSmart_VPS10,superfamily_SSF110296 XPNPEP1 7511 genome.wustl.edu 37 10 111637618 111637618 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020383.3 -1 reviewed p.A374T 1.000 236 0% 133 30.8% - - benign(0.11) tolerated(0.18) neutral(0.065) HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase SMC3 9126 genome.wustl.edu 37 10 112337617 112337617 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005445.3 +1 reviewed p.R99* 1.000 338 0% 135 43% - - - - - HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases RBM20 282996 genome.wustl.edu 37 10 112541291 112541291 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134363.1 +1 reviewed p.V308 0.001 85 0% 64 35.9% - - - - - NULL RBM20 282996 genome.wustl.edu 37 10 112572327 112572327 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134363.1 +1 reviewed p.D724 0.063 113 0% 50 42% - - - - - NULL RBM20 282996 genome.wustl.edu 37 10 112581648 112581648 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134363.1 +1 reviewed p.E1091K 0.806 140 0% 71 14.1% - - possibly_damaging(0.608) deleterious(0) deleterious(0.655) NULL RBM20 282996 genome.wustl.edu 37 10 112583311 112583311 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134363.1 +1 reviewed p.Q1130 0.968 166 0% 93 40.9% - - - - - NULL SHOC2 8036 genome.wustl.edu 37 10 112724416 112724416 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007373.3 +1 reviewed p.E100D 1.000 129 0% 56 46.4% - - benign(0.005) tolerated(0.27) neutral(0.034) superfamily_L domain-like GPAM 57678 genome.wustl.edu 37 10 113931986 113931986 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020918.4 -1 validated p.A250S 1.000 440 0% 185 15.7% - - probably_damaging(0.998) tolerated(0.67) deleterious(0.477) HMMPfam_Acyltransferase,HMMSmart_PlsC,superfamily_SSF69593 ZDHHC6 64429 genome.wustl.edu 37 10 114192019 114192019 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022494.1 -1 provisional p.L373I 1.000 379 0% 181 38.1% - - benign(0.094) tolerated(0.37) neutral(0.026) HMMPfam_SH3_2 ZDHHC6 64429 genome.wustl.edu 37 10 114192135 114192135 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022494.1 -1 provisional p.R364* 1.000 567 0.4% 315 45.4% - - - - - HMMPfam_SH3_2 TCF7L2 6934 genome.wustl.edu 37 10 114901057 114901057 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030756.4 +1 reviewed p.D200N 1.000 508 0% 218 25.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CTNNB1_binding TCF7L2 6934 genome.wustl.edu 37 10 114911553 114911553 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030756.4 +1 reviewed p.F334L 1.000 204 0% 98 32.7% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box NRAP 4892 genome.wustl.edu 37 10 115364457 115364457 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198060.2 -1 validated p.D1380N 0.960 203 0% 143 25.9% - - probably_damaging(0.981) tolerated(0.29) neutral(0.455) HMMPfam_Nebulin,HMMSmart_SM00227 NRAP 4892 genome.wustl.edu 37 10 115364676 115364676 + Missense_Mutation SNP G G T rs186178037 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198060.2 -1 validated p.L1307I 1.000 133 0% 95 36.8% - - possibly_damaging(0.533) tolerated(0.07) deleterious(0.499) HMMPfam_Nebulin,HMMSmart_SM00227 NRAP 4892 genome.wustl.edu 37 10 115370318 115370318 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198060.2 -1 validated p.L1168S 0.798 226 0% 160 35% - - possibly_damaging(0.925) deleterious(0.03) deleterious(0.738) HMMSmart_SM00227 NRAP 4892 genome.wustl.edu 37 10 115381814 115381814 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198060.2 -1 validated p.K861N 1.000 289 0% 252 42.5% - - possibly_damaging(0.933) deleterious(0) deleterious(0.824) HMMPfam_Nebulin,HMMSmart_SM00227 NRAP 4892 genome.wustl.edu 37 10 115385884 115385884 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198060.2 -1 validated p.V722 0.002 210 0% 137 12.4% - - - - - HMMPfam_Nebulin,HMMSmart_SM00227 CASP7 840 genome.wustl.edu 37 10 115480908 115480908 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033338.4 +1 reviewed p.K109N 1.000 284 0% 121 49.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like C10orf81 79949 genome.wustl.edu 37 10 115529652 115529652 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000369310 +1 known p.Q176R 0.957 149 0% 113 12.4% - - possibly_damaging(0.452) tolerated(0.48) neutral(0.159) NULL C10orf81 79949 genome.wustl.edu 37 10 115535551 115535551 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000448805 +1 known p.E50* 0.965 295 0.3% 160 38.8% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL C10orf81 79949 genome.wustl.edu 37 10 115540412 115540412 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000369312 +1 known p.A325T 0.000 175 0% 83 45.8% - - benign(0.005) tolerated(0.69) neutral(0.002) NULL DCLRE1A 9937 genome.wustl.edu 37 10 115610220 115610220 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014881.3 -1 provisional p.S215L 0.000 123 0% 70 20% - - benign(0) tolerated(0.36) neutral(0.020) NULL NHLRC2 374354 genome.wustl.edu 37 10 115636688 115636688 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198514.2 +1 provisional p.R247I 1.000 80 0% 52 30.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NHL,superfamily_NHL repeat C10orf118 55088 genome.wustl.edu 37 10 115891753 115891753 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018017.2 -1 validated p.V616I 1.000 245 0% 135 45.9% - - benign(0) tolerated(0.07) neutral(0.319) NULL C10orf118 55088 genome.wustl.edu 37 10 115904348 115904348 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018017.2 -1 validated p.E377* 1.000 640 0% 373 52% - - - - - NULL C10orf118 55088 genome.wustl.edu 37 10 115922510 115922510 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018017.2 -1 validated p.T173M 0.914 228 0% 138 35.5% - - possibly_damaging(0.87) deleterious(0.01) deleterious(0.744) NULL C10orf118 55088 genome.wustl.edu 37 10 115922792 115922792 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018017.2 -1 validated p.S79Y 0.627 276 0% 153 34% - - possibly_damaging(0.852) deleterious(0.02) deleterious(0.711) NULL TDRD1 56165 genome.wustl.edu 37 10 115947625 115947625 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198795.1 +1 reviewed p.R12I 1.000 209 0% 117 35% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL TDRD1 56165 genome.wustl.edu 37 10 115977383 115977383 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198795.1 +1 reviewed p.E764D 0.864 190 0% 115 36.5% - - probably_damaging(0.984) tolerated(0.09) deleterious(0.727) HMMSmart_TUDOR,HMMPfam_TUDOR,superfamily_SSF63748 TDRD1 56165 genome.wustl.edu 37 10 115981148 115981148 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198795.1 +1 reviewed p.E935* 0.994 267 0% 133 44.4% - - - - - NULL ATRNL1 26033 genome.wustl.edu 37 10 116887383 116887383 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207303.2 +1 validated p.G173D 1.000 472 0% 292 41.8% - - possibly_damaging(0.623) tolerated(0.09) deleterious(0.513) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain ATRNL1 26033 genome.wustl.edu 37 10 117226686 117226686 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207303.2 +1 validated p.S1140 0.982 394 0% 122 41.8% - - - - - NULL GFRA1 2674 genome.wustl.edu 37 10 117884987 117884987 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005264.4 -1 reviewed p.S172L 0.996 66 0% 58 50% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GDNF,superfamily_GDNF receptor-like (Pfam 02351) PNLIPRP2 5408 genome.wustl.edu 37 10 118401732 118401732 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005396.4 +1 validated p.I429 0.006 235 0% 130 10% - - benign(0.007) tolerated(0.84) neutral(0.001) NULL C10orf82 143379 genome.wustl.edu 37 10 118425233 118425233 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144661.2 -1 predicted p.R54W 0.083 231 0% 178 30.3% - - probably_damaging(0.959) deleterious(0.01) deleterious(0.808) NULL KCNK18 338567 genome.wustl.edu 37 10 118969237 118969237 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181840.1 +1 provisional p.P194 0.000 215 0% 122 23% - - - - - NULL KCNK18 338567 genome.wustl.edu 37 10 118969663 118969663 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181840.1 +1 provisional p.F336L 1.000 784 0% 470 31.5% - - benign(0.214) tolerated(0.6) neutral(0.026) HMMPfam_Ion_trans_2,superfamily_SSF81324 PDZD8 118987 genome.wustl.edu 37 10 119042793 119042793 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173791.3 -1 provisional p.S1151P 1.000 462 0% 234 23.5% - - benign(0.008) tolerated(0.29) neutral(0.029) NULL PDZD8 118987 genome.wustl.edu 37 10 119043183 119043183 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173791.3 -1 provisional p.R1021C 1.000 251 0% 203 41.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PDZD8 118987 genome.wustl.edu 37 10 119133879 119133879 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173791.3 -1 provisional p.N287S 0.996 178 0% 75 40% - - benign(0) tolerated(0.34) neutral(0.023) NULL RAB11FIP2 22841 genome.wustl.edu 37 10 119805436 119805436 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014904.2 -1 validated p.Y80C 1.000 296 0% 167 35.9% - - benign(0.068) tolerated(0.23) neutral(0.046) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB FAM45A 404636 genome.wustl.edu 37 10 120879916 120879916 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207009.2 +1 validated p.R182I 1.000 218 0% 120 30% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAM45A 404636 genome.wustl.edu 37 10 120892096 120892096 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207009.2 +1 validated p.E291A 1.000 267 0% 166 37.3% - - benign(0.041) tolerated(0.2) neutral(0.052) NULL PRDX3 10935 genome.wustl.edu 37 10 120931929 120931929 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006793.2 -1 reviewed p.Y172 0.892 236 0% 144 47.2% - - - - - HMMPfam_AhpC-TSA,superfamily_Thiordxn-like_fd TIAL1 7073 genome.wustl.edu 37 10 121339477 121339477 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001033925.1 -1 reviewed p.G156 1.000 176 0% 75 26.7% - - - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 BAG3 9531 genome.wustl.edu 37 10 121436429 121436429 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004281.3 +1 reviewed p.E455K 1.000 119 0% 91 25.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_BAG,HMMSmart_BAG,superfamily_SSF63491 INPP5F 22876 genome.wustl.edu 37 10 121556408 121556408 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014937.2 +1 reviewed p.R284Q 1.000 199 0% 98 32.7% - - possibly_damaging(0.927) deleterious(0) deleterious(0.820) HMMPfam_Syja_N FGFR2 2263 genome.wustl.edu 37 10 123239530 123239530 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022970.3 -1 reviewed p.Y770* 1.000 349 0% 210 41.9% - - - - - superfamily_Kinase_like FGFR2 2263 genome.wustl.edu 37 10 123243222 123243223 + Frame_Shift_Ins INS - - T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022970.3 -1 reviewed p.T765fs 1.000:1.000 - - - - - - - - - superfamily_Kinase_like FGFR2 2263 genome.wustl.edu 37 10 123258036 123258036 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022970.3 -1 reviewed p.N550H 1.000 453 0% 351 39% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like FGFR2 2263 genome.wustl.edu 37 10 123279622 123279622 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022970.3 -1 reviewed p.V270 0.032 213 0% 130 38.5% - - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 TACC2 10579 genome.wustl.edu 37 10 123846899 123846899 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_206862.2 +1 reviewed p.P1628 0.000 64 0% 44 20.5% - - - - - NULL TACC2 10579 genome.wustl.edu 37 10 123892155 123892155 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_206862.2 +1 reviewed p.A1869T 0.638 183 0% 144 15.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL BTBD16 118663 genome.wustl.edu 37 10 124058612 124058612 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144587.2 +1 validated p.P252T 0.912 146 0% 105 25.7% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL BTBD16 118663 genome.wustl.edu 37 10 124089075 124089075 + Missense_Mutation SNP G G T rs986178 byCluster;byFrequency;bySubmitter;by2Hit2Allele;byHapMap;by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144587.2 +1 validated p.G331V 0.433 229 0.4% 202 33.2% - - possibly_damaging(0.943) deleterious(0.04) deleterious(0.736) NULL BTBD16 118663 genome.wustl.edu 37 10 124094413 124094413 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144587.2 +1 validated p.S394 0.000 286 0% 165 41.8% - - - - - NULL C10orf120 399814 genome.wustl.edu 37 10 124459251 124459251 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010912.1 -1 predicted p.D19G 0.000 471 0% 229 26.2% - - possibly_damaging(0.734) tolerated(0.64) neutral(0.272) NULL CUZD1 50624 genome.wustl.edu 37 10 124598705 124598705 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022034.4 -1 provisional p.V92 0.727 206 0% 127 22.8% - - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain IKZF5 64376 genome.wustl.edu 37 10 124754153 124754153 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022466.5 -1 provisional p.E135* 1.000 271 0% 175 26.3% - - - - - superfamily_SSF57667 BUB3 9184 genome.wustl.edu 37 10 124922193 124922193 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004725.3 +1 reviewed p.R274W 1.000 282 0% 177 31.6% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMSmart_SM00320,superfamily_WD40 repeat-like CPXM2 119587 genome.wustl.edu 37 10 125651050 125651050 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198148.2 -1 validated p.S42 0.000 31 0% 30 36.7% - - - - - NULL CHST15 51363 genome.wustl.edu 37 10 125805533 125805533 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015892.2 -1 validated p.E66* 0.984 197 0% 142 42.3% - - - - - NULL OAT 4942 genome.wustl.edu 37 10 126086638 126086638 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000274.3 -1 reviewed p.R398Q 1.000 142 0% 65 43.1% - - possibly_damaging(0.765) deleterious(0.04) deleterious(0.633) superfamily_PyrdxlP-dep_Trfase_major OAT 4942 genome.wustl.edu 37 10 126097446 126097446 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000274.3 -1 reviewed p.K96N 1.000 306 0% 183 35% - - benign(0.379) deleterious(0.02) deleterious(0.504) HMMPfam_Aminotran_3,superfamily_PyrdxlP-dep_Trfase_major MMP21 118856 genome.wustl.edu 37 10 127455503 127455503 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_147191.1 -1 reviewed p.R480* 0.007 231 0% 141 36.2% - - - - - superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 DHX32 55760 genome.wustl.edu 37 10 127526808 127526808 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018180.2 -1 reviewed p.Y677C 1.000 201 0% 117 14.5% - - benign(0.012) deleterious(0.02) neutral(0.384) HMMPfam_DUF1605 FAM196A 642938 genome.wustl.edu 37 10 128973618 128973618 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039762.2 -1 validated p.R348* 1.000 149 0% 139 28.1% - - - - - NULL FAM196A 642938 genome.wustl.edu 37 10 128974518 128974518 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039762.2 -1 validated p.R48W 1.000 302 0% 161 35.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DOCK1 1793 genome.wustl.edu 37 10 129183161 129183161 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000398025 +1 known p.F1350 0.991 196 0% 130 26.2% - - - - - NULL PTPRE 5791 genome.wustl.edu 37 10 129868590 129868590 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006504.4 +1 reviewed p.A390V 1.000 86 0% 76 42.1% - - possibly_damaging(0.823) deleterious(0.03) deleterious(0.676) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTPRE 5791 genome.wustl.edu 37 10 129870443 129870443 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006504.4 +1 reviewed p.E477* 0.998 326 0% 156 16% - - - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II MKI67 4288 genome.wustl.edu 37 10 129899690 129899690 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002417.4 -1 reviewed p.A3179 0.000 442 0.2% 291 27.1% - - - - - NULL MKI67 4288 genome.wustl.edu 37 10 129900879 129900879 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002417.4 -1 reviewed p.E3075 0.001 659 0% 384 40.6% - - - - - NULL MKI67 4288 genome.wustl.edu 37 10 129905540 129905540 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002417.4 -1 reviewed p.E1522* 0.114 834 0% 572 29.2% - - - - - HMMPfam_K167R MKI67 4288 genome.wustl.edu 37 10 129906753 129906753 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002417.4 -1 reviewed p.E1117 0.000 799 0% 476 42.4% - - - - - NULL EBF3 253738 genome.wustl.edu 37 10 131638578 131638578 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005463.1 -1 validated p.A519T 1.000 94 0% 61 50.8% - - probably_damaging(0.998) tolerated(0.18) deleterious(0.530) NULL GLRX3 10539 genome.wustl.edu 37 10 131973150 131973150 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006541.3 +1 provisional p.D282Y 1.000 712 0% 427 29.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glutaredoxin,superfamily_Thiordxn-like_fd DPYSL4 10570 genome.wustl.edu 37 10 134017338 134017338 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006426.2 +1 validated p.P512S 0.337 50 0% 46 30.4% - - benign(0.001) tolerated(0.06) neutral(0.323) NULL LRRC27 80313 genome.wustl.edu 37 10 134175022 134175022 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143757.1 +1 validated p.P411L 0.004 204 0% 119 44.5% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL INPP5A 3632 genome.wustl.edu 37 10 134463950 134463950 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005539.3 +1 reviewed p.E83* 1.000 294 0% 159 23.9% - - - - - HMMSmart_IPPc,HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos TTC40 54777 genome.wustl.edu 37 10 134650406 134650406 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000368586 -1 known p.L2151I 0.907 142 0% 81 34.6% - - probably_damaging(0.972) tolerated(0.27) neutral(0.448) NULL KNDC1 85442 genome.wustl.edu 37 10 135025259 135025259 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152643.6 +1 validated p.N1378S 0.001 39 0% 54 31.5% - - benign(0) tolerated(0.9) - superfamily_Ras GEF TUBGCP2 10844 genome.wustl.edu 37 10 135096710 135096710 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006659.2 -1 validated p.D721N 1.000 174 0% 130 10.8% - - benign(0.378) tolerated(0.4) neutral(0.137) HMMPfam_Spc97_Spc98 ZNF511 118472 genome.wustl.edu 37 10 135126329 135126329 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145806.2 +1 provisional p.R240* 0.208 279 0% 129 25.6% - - - - - NULL MTG1 92170 genome.wustl.edu 37 10 135233628 135233628 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138384.2 +1 validated p.D322N 0.028 88 0% 60 28.3% - - probably_damaging(0.954) tolerated(0.07) deleterious(0.717) NULL CYP2E1 1571 genome.wustl.edu 37 10 135350581 135350581 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000773.3 +1 reviewed p.E328* 1.000 151 0% 113 32.7% - - - - - HMMPfam_p450,superfamily_Cytochrome_P450 ATHL1 80162 genome.wustl.edu 37 11 290056 290056 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025092.4 +1 validated p.F80 0.001 27 0% 18 38.9% - - - - - NULL IFITM5 387733 genome.wustl.edu 37 11 298553 298553 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001025295.1 -1 provisional p.K116T 1.000 44 0% 29 37.9% - - possibly_damaging(0.489) tolerated(0.07) deleterious(0.482) NULL ANO9 338440 genome.wustl.edu 37 11 428359 428359 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012302.2 -1 validated p.F407 0.010 77 1.3% 52 28.8% - - - - - NULL CDHR5 53841 genome.wustl.edu 37 11 620351 620351 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021924.4 -1 reviewed p.Y275 0.505 260 0% 169 32.5% - - - - - HMMSmart_SM00112,superfamily_Cadherin-like CDHR5 53841 genome.wustl.edu 37 11 624604 624604 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021924.4 -1 reviewed p.R72W 0.000 70 0% 33 27.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112 DEAF1 10522 genome.wustl.edu 37 11 681025 681025 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021008.2 -1 validated p.T312I 0.004 564 0% 262 37% - - benign(0.282) tolerated(0.09) neutral(0.383) NULL AP2A2 161 genome.wustl.edu 37 11 1010602 1010602 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012305.2 +1 validated p.E933* 1.000 339 0% 147 29.9% - - - - - HMMPfam_Alpha_adaptin_C,superfamily_Subdomain of clathrin and coatomer appendage domain MUC6 4588 genome.wustl.edu 37 11 1027790 1027790 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005961.2 -1 validated p.E626K 0.925 31 0% 28 46.4% - - unknown(0) deleterious(0.01) - HMMPfam_C8 MUC2 4583 genome.wustl.edu 37 11 1080295 1080295 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002457.2 +1 reviewed p.D339N 1.000 46 0% 30 30% - - probably_damaging(0.998) - - superfamily_Serine proterase inhibitors MUC5B 727897 genome.wustl.edu 37 11 1255471 1255471 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002458.1 +1 validated p.N808T 0.031 29 0% 18 33.3% - - probably_damaging(1) - - HMMSmart_SM00214,superfamily_Serine proterase inhibitors MUC5B 727897 genome.wustl.edu 37 11 1261039 1261039 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002458.1 +1 validated p.P1201 0.000 43 0% 27 44.4% - - - - - superfamily_Serine proterase inhibitors MUC5B 727897 genome.wustl.edu 37 11 1269170 1269170 + Missense_Mutation SNP C C T rs185960862 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002458.1 +1 validated p.P3690L 0.000 292 0.3% 141 33.3% - - unknown(0) - - NULL MUC5B 727897 genome.wustl.edu 37 11 1273616 1273616 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002458.1 +1 validated p.F4972L 0.304 140 0% 100 41% - - unknown(0) - - NULL TNNI2 7136 genome.wustl.edu 37 11 1862282 1862282 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003282.3 +1 reviewed p.L100 1.000 19 0% 17 41.2% - - - - - HMMPfam_Troponin TNNT3 7140 genome.wustl.edu 37 11 1955859 1955859 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006757.3 +1 reviewed p.I188 0.969 87 0% 30 36.7% - - - - - HMMPfam_Troponin INS 3630 genome.wustl.edu 37 11 2181039 2181039 + Missense_Mutation SNP C C T rs192030414 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000421783 -1 known p.R84Q 0.000 101 0% 66 34.8% - - benign(0.003) tolerated(0.31) neutral(0.027) HMMPfam_Insulin,HMMSmart_SM00078 TRPM5 29850 genome.wustl.edu 37 11 2439430 2439430 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014555.3 -1 validated p.F291L 0.999 77 0% 67 41.8% - - possibly_damaging(0.818) tolerated(0.53) neutral(0.317) NULL KCNQ1DN 55539 genome.wustl.edu 37 11 2893079 2893079 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_024627.1 +1 validated NULL 0.000 226 0% 164 14.6% - - - - - - NAP1L4 4676 genome.wustl.edu 37 11 2981138 2981138 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005969.3 -1 reviewed p.S203F 1.000 514 0% 221 33% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NAP CARS 833 genome.wustl.edu 37 11 3061101 3061101 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001014437.1 -1 reviewed p.V172 1.000 548 0% 281 31.7% - - - - - HMMPfam_tRNA-synt_1e,superfamily_SSF52374 ZNF195 7748 genome.wustl.edu 37 11 3381282 3381282 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130520.1 -1 validated p.R319I 0.951 99 0% 56 35.7% - - probably_damaging(0.991) deleterious(0.04) deleterious(0.793) superfamily_C2H2 and C2HC zinc fingers CHRNA10 57053 genome.wustl.edu 37 11 3687472 3687472 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020402.2 -1 provisional p.F406 1.000 56 0% 39 30.8% - - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM NUP98 4928 genome.wustl.edu 37 11 3721961 3721961 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000429801 -1 known p.T160A 1.000 589 0% 335 40.3% - - - - - NULL NUP98 4928 genome.wustl.edu 37 11 3774617 3774617 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016320.4 -1 reviewed p.G399E 1.000 225 0% 104 40.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL OR52B4 143496 genome.wustl.edu 37 11 4388669 4388669 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005161.3 -1 validated p.P286Q 1.000 232 0% 147 38.8% - - probably_damaging(0.966) deleterious(0) deleterious(0.853) HMMPfam_7tm_1,superfamily_SSF81321 OR52M1 119772 genome.wustl.edu 37 11 4567217 4567217 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004137.1 +1 validated p.R266Q 0.001 654 0.3% 503 33.2% - - probably_damaging(0.967) deleterious(0) deleterious(0.853) HMMPfam_7tm_1,superfamily_SSF81321 OR52M1 119772 genome.wustl.edu 37 11 4567352 4567352 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004137.1 +1 validated p.R311M 0.027 320 0% 252 22.6% - - benign(0.096) deleterious(0.01) neutral(0.413) superfamily_SSF81321 OR52I2 143502 genome.wustl.edu 37 11 4608497 4608497 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005170.2 +1 validated p.R152H 0.998 247 0.8% 213 26.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 TRIM68 55128 genome.wustl.edu 37 11 4621686 4621686 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018073.5 -1 reviewed p.F426 0.999 121 0% 74 36.5% - - - - - HMMPfam_SPRY,HMMSmart_SPRY OR51D1 390038 genome.wustl.edu 37 11 4661208 4661208 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004751.2 +1 validated p.R63H 0.046 373 0% 246 32.9% - - benign(0.002) tolerated(0.2) neutral(0.049) HMMPfam_7tm_1,superfamily_SSF81321 OR51E1 143503 genome.wustl.edu 37 11 4674582 4674582 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152430.3 +1 validated p.V276I 0.000 304 0% 195 32.8% - - benign(0.001) tolerated(0.97) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51E2 81285 genome.wustl.edu 37 11 4703049 4703049 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030774.3 -1 validated p.I298S 1.000 364 0% 171 32.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Family A G protein-coupled receptor-like OR51F1 256892 genome.wustl.edu 37 11 4790392 4790392 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004752.1 -1 provisional p.F252L 0.237 198 0% 120 40% - - benign(0) tolerated(0.21) neutral(0.044) HMMPfam_7tm_1,superfamily_SSF81321 OR51F2 119694 genome.wustl.edu 37 11 4842967 4842967 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004753.1 +1 provisional p.L118I 0.253 270 0% 187 38.5% - - probably_damaging(0.974) tolerated(1) neutral(0.416) HMMPfam_7tm_1,superfamily_SSF81321 OR51A7 119687 genome.wustl.edu 37 11 4928905 4928905 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004749.1 +1 provisional p.F102L 0.959 266 0% 135 37% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_7tm_1,superfamily_SSF81321 OR51A7 119687 genome.wustl.edu 37 11 4929107 4929107 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004749.1 +1 provisional p.Q170* 0.751 319 0% 130 29.2% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR51G2 81282 genome.wustl.edu 37 11 4936635 4936635 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005238.1 -1 provisional p.L87M 0.719 249 0% 118 33.9% - - possibly_damaging(0.911) tolerated(0.15) deleterious(0.604) HMMPfam_7tm_1,superfamily_SSF81321 OR51G1 79324 genome.wustl.edu 37 11 4944666 4944666 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005237.1 -1 provisional p.R302C 0.902 513 0% 216 38.4% - - probably_damaging(0.984) deleterious(0.01) deleterious(0.836) superfamily_SSF81321 OR52A5 390054 genome.wustl.edu 37 11 5153594 5153594 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005160.2 -1 validated p.E93D 0.687 156 0% 69 37.7% - - benign(0.001) tolerated(0.12) neutral(0.261) HMMPfam_7tm_1,superfamily_SSF81321 OR52A5 390054 genome.wustl.edu 37 11 5153714 5153714 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005160.2 -1 validated p.Y53 0.001 147 0% 81 37% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR51V1 283111 genome.wustl.edu 37 11 5221875 5221875 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004760.2 -1 validated p.S19Y 0.029 210 0% 77 45.5% - - unknown(0) tolerated(0.54) - superfamily_Family A G protein-coupled receptor-like HBD 3045 genome.wustl.edu 37 11 5255276 5255276 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000519.3 -1 reviewed p.S87Y 0.003 261 0% 152 50.7% - - probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_Globin,superfamily_Globin-like HBE1 3046 genome.wustl.edu 37 11 5290874 5290874 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005330.3 -1 reviewed p.F42S 1.000 270 0% 143 36.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Globin,superfamily_Globin-like OR51B4 79339 genome.wustl.edu 37 11 5322342 5322342 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033179.2 -1 validated p.L279I 0.782 179 0% 94 27.7% - - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51B5 282763 genome.wustl.edu 37 11 5363829 5363829 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005567.1 -1 provisional p.R309I 0.000 270 0% 88 42% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) superfamily_Family A G protein-coupled receptor-like OR51B5 282763 genome.wustl.edu 37 11 5363861 5363861 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005567.1 -1 provisional p.Q298H 0.003 295 0.3% 91 12.1% - - benign(0.001) deleterious(0.03) neutral(0.364) superfamily_Family A G protein-coupled receptor-like OR51B5 282763 genome.wustl.edu 37 11 5364668 5364668 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005567.1 -1 provisional p.F29L 0.001 170 0% 74 39.2% - - benign(0.008) tolerated(0.44) neutral(0.013) superfamily_Family A G protein-coupled receptor-like OR51M1 390059 genome.wustl.edu 37 11 5411062 5411062 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004756.2 +1 validated p.S145L 0.008 309 0% 222 40.1% - - benign(0.001) deleterious(0.02) neutral(0.383) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51Q1 390061 genome.wustl.edu 37 11 5443923 5443923 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004757.2 +1 validated p.L165F 1.000 410 0% 268 29.5% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_7tm_1,superfamily_SSF81321 OR51I2 390064 genome.wustl.edu 37 11 5474815 5474815 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004754.2 +1 validated p.V33M 0.000 320 0% 216 41.2% - - benign(0.002) tolerated(0.08) neutral(0.300) superfamily_SSF81321 OR52D1 390066 genome.wustl.edu 37 11 5510018 5510018 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005163.2 +1 validated p.F28I 0.000 302 0% 191 36.1% - - benign(0) tolerated(1) - superfamily_Family A G protein-coupled receptor-like OR52B6 340980 genome.wustl.edu 37 11 5602474 5602474 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005162.2 +1 validated p.F123S 0.842 273 0% 216 32.4% - - possibly_damaging(0.489) deleterious(0) deleterious(0.607) HMMPfam_7tm_1,superfamily_SSF81321 TRIM22 10346 genome.wustl.edu 37 11 5719604 5719604 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000414897 +1 known p.L104I 0.001 245 0% 131 36.6% - - - - - NULL OR52N1 79473 genome.wustl.edu 37 11 5809916 5809916 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001913.1 -1 provisional p.N44S 0.890 149 0% 107 42.1% - - probably_damaging(0.97) deleterious(0) deleterious(0.857) HMMPfam_7tm_1,superfamily_SSF81321 OR52E8 390079 genome.wustl.edu 37 11 5877996 5877996 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005168.1 -1 provisional p.L313I 0.000 187 0% 90 36.7% - - benign(0) tolerated(0.27) neutral(0.034) superfamily_SSF81321 OR52E8 390079 genome.wustl.edu 37 11 5878509 5878509 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005168.1 -1 provisional p.L142I 0.947 218 0.5% 121 33.1% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_7tm_1,superfamily_SSF81321 OR52E4 390081 genome.wustl.edu 37 11 5906253 5906253 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005165.1 +1 provisional p.S244Y 0.816 686 0% 360 40.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR52L1 338751 genome.wustl.edu 37 11 6008070 6008070 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005173.2 -1 validated p.L31I 0.992 145 0% 68 35.3% - - benign(0.001) tolerated(1) - superfamily_Family A G protein-coupled receptor-like OR52L2P 79274 genome.wustl.edu 37 11 6079311 6079311 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000316540 -1 known p.F65L 0.019 208 0.5% 91 45.1% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR56B4 196335 genome.wustl.edu 37 11 6129347 6129347 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005181.1 +1 provisional p.F113L 0.000 293 0% 164 34.8% - - benign(0.092) tolerated(0.18) neutral(0.063) HMMPfam_7tm_1,superfamily_SSF81321 OR56B4 196335 genome.wustl.edu 37 11 6129368 6129368 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005181.1 +1 provisional p.I120 0.406 266 0.4% 153 18.3% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 FAM160A2 84067 genome.wustl.edu 37 11 6244078 6244078 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032127.3 -1 validated p.G329E 1.000 124 0% 67 34.3% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_RAI16-like FAM160A2 84067 genome.wustl.edu 37 11 6245034 6245034 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032127.3 -1 validated p.E195K 0.999 77 0% 40 20% - - possibly_damaging(0.912) tolerated(0.07) deleterious(0.682) HMMPfam_RAI16-like SMPD1 6609 genome.wustl.edu 37 11 6413365 6413365 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000543.3 +1 reviewed p.A357D 0.002 85 0% 57 35.1% - - benign(0.001) tolerated(0.47) neutral(0.011) HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases HPX 3263 genome.wustl.edu 37 11 6461910 6461910 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000613.2 -1 reviewed p.D45G 0.057 213 0% 113 38.9% - - benign(0.003) tolerated(0.22) neutral(0.042) NULL DNHD1 144132 genome.wustl.edu 37 11 6579191 6579191 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144666.2 +1 provisional p.L2889P 0.765 48 0% 37 40.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DCHS1 8642 genome.wustl.edu 37 11 6650909 6650909 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003737.2 -1 reviewed p.D1677N 1.000 83 0% 62 38.7% - - probably_damaging(1) tolerated(0.45) deleterious(0.512) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin OR2AG2 338755 genome.wustl.edu 37 11 6790024 6790024 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004490.1 -1 provisional p.L55 0.987 438 0% 253 32% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR6A2 8590 genome.wustl.edu 37 11 6816441 6816441 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003696.2 -1 provisional p.L167I 0.003 224 0% 108 25.9% - - benign(0.013) tolerated(0.11) neutral(0.272) HMMPfam_7tm_1,superfamily_SSF81321 OR6A2 8590 genome.wustl.edu 37 11 6816847 6816847 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003696.2 -1 provisional p.L31 0.009 283 0% 163 38.7% - - - - - superfamily_SSF81321 OR10A5 144124 genome.wustl.edu 37 11 6867095 6867095 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178168.1 +1 provisional p.Y61C 1.000 445 0% 270 14.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 OR2D2 120776 genome.wustl.edu 37 11 6913696 6913696 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003700.1 -1 provisional p.F12 0.046 218 0% 103 39.8% - - - - - superfamily_SSF81321 ZNF214 7761 genome.wustl.edu 37 11 7022502 7022502 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013249.2 -1 validated p.P138S 0.893 176 0% 89 32.6% - - probably_damaging(0.985) tolerated(0.57) neutral(0.438) NULL ZNF214 7761 genome.wustl.edu 37 11 7022616 7022616 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013249.2 -1 validated p.R100C 0.001 176 0% 100 34% - - possibly_damaging(0.456) tolerated(0.18) neutral(0.205) NULL NLRP14 338323 genome.wustl.edu 37 11 7065083 7065083 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_176822.3 +1 reviewed p.I609T 0.004 298 0% 163 35.6% - - possibly_damaging(0.572) deleterious(0.01) deleterious(0.602) NULL OLFML1 283298 genome.wustl.edu 37 11 7530908 7530908 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198474.3 +1 validated p.S233Y 0.021 135 0% 70 14.3% - - benign(0.16) tolerated(0.05) neutral(0.360) HMMPfam_OLF,HMMSmart_SM00284 PPFIBP2 8495 genome.wustl.edu 37 11 7614411 7614411 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003621.2 +1 validated p.R110C 1.000 351 0% 167 32.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PPFIBP2 8495 genome.wustl.edu 37 11 7663537 7663537 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003621.2 +1 validated p.R509I 1.000 78 0% 37 32.4% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL OVCH2 341277 genome.wustl.edu 37 11 7716890 7716890 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198185.2 -1 validated p.S398Y 0.064 198 0% 88 31.8% - - possibly_damaging(0.46) deleterious(0.02) deleterious(0.534) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain OR10A3 26496 genome.wustl.edu 37 11 7960477 7960477 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001003745.1 -1 provisional p.I197 0.990 226 0% 92 30.4% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR10A3 26496 genome.wustl.edu 37 11 7960512 7960512 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001003745.1 -1 provisional p.E186* 0.002 187 0% 75 42.7% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NLRP10 338322 genome.wustl.edu 37 11 7981274 7981274 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_176821.3 -1 reviewed p.D629Y 0.000 505 0% 226 44.2% - - possibly_damaging(0.858) deleterious(0) deleterious(0.776) NULL NLRP10 338322 genome.wustl.edu 37 11 7981808 7981808 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_176821.3 -1 reviewed p.D451N 0.000 211 0.5% 121 33.1% - - benign(0.009) deleterious(0.01) neutral(0.406) NULL TRIM66 9866 genome.wustl.edu 37 11 8642798 8642798 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014818.1 -1 validated p.S933Y 0.003 87 0% 71 40.8% - - benign(0.021) deleterious(0) neutral(0.446) NULL ST5 6764 genome.wustl.edu 37 11 8718172 8718172 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005418.3 -1 reviewed p.R1032W 1.000 106 0% 73 17.8% - - benign(0.33) tolerated(0.09) neutral(0.400) HMMPfam_dDENN,HMMSmart_SM00801 ST5 6764 genome.wustl.edu 37 11 8724254 8724254 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005418.3 -1 reviewed p.R862Q 1.000 97 0% 64 34.4% - - benign(0.315) tolerated(0.37) neutral(0.118) HMMPfam_DENN,HMMSmart_SM00799 ST5 6764 genome.wustl.edu 37 11 8735572 8735572 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005418.3 -1 reviewed p.E654K 1.000 213 0% 153 17% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL ST5 6764 genome.wustl.edu 37 11 8747644 8747644 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005418.3 -1 reviewed p.E485* 1.000 338 0% 194 29.4% - - - - - NULL NRIP3 56675 genome.wustl.edu 37 11 9005629 9005629 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020645.2 -1 validated p.R202Q 1.000 296 0% 184 33.7% - - benign(0.036) deleterious(0.04) neutral(0.351) superfamily_Pept_Aspartic,HMMPfam_Asp_protease DENND5A 23258 genome.wustl.edu 37 11 9168669 9168669 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015213.2 -1 validated p.R922H 1.000 306 0% 145 22.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RUN,HMMSmart_SM00593 DENND5A 23258 genome.wustl.edu 37 11 9225408 9225408 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015213.2 -1 validated p.E250K 1.000 144 0.7% 102 33.3% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_DENN,HMMSmart_SM00799 IPO7 10527 genome.wustl.edu 37 11 9455267 9455267 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006391.2 +1 reviewed e18-1 1.000 276 0% 169 37.9% - - - - - - SBF2 81846 genome.wustl.edu 37 11 9985339 9985339 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030962.3 -1 reviewed p.K564T 1.000 241 0% 115 47% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MRVI1 10335 genome.wustl.edu 37 11 10626061 10626061 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098579.1 -1 reviewed p.R536K 1.000 639 0% 335 29.9% - - probably_damaging(0.994) tolerated(0.13) deleterious(0.705) HMMPfam_MRVI1 EIF4G2 1982 genome.wustl.edu 37 11 10821810 10821810 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000429377 -1 known p.R722H 1.000 180 0% 154 44.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_MA3,HMMSmart_MA3 ZBED5 58486 genome.wustl.edu 37 11 10875741 10875741 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143667.1 -1 reviewed p.R251Q 0.992 195 0% 136 38.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZBED5 58486 genome.wustl.edu 37 11 10876360 10876360 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143667.1 -1 reviewed p.L45I 1.000 121 0% 57 19.3% - - benign(0.043) - - NULL GALNTL4 374378 genome.wustl.edu 37 11 11454326 11454326 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198516.2 -1 validated p.N146S 1.000 129 0% 96 45.8% - - possibly_damaging(0.598) tolerated(0.5) neutral(0.217) superfamily_Nucleotide-diphospho-sugar transferases MICAL2 9645 genome.wustl.edu 37 11 12229646 12229646 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014632.2 +1 provisional p.F183 0.994 492 0% 259 35.1% - - - - - superfamily_FAD/NAD(P)-binding domain MICALCL 84953 genome.wustl.edu 37 11 12315873 12315873 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032867.2 +1 validated p.E299* 0.000 88 0% 47 36.2% - - - - - NULL PARVA 55742 genome.wustl.edu 37 11 12399273 12399273 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018222.3 +1 provisional p.D27Y 1.000 87 0% 39 41% - - benign(0.386) deleterious(0) deleterious(0.568) superfamily_Calponin-homology domain CH-domain FAR1 84188 genome.wustl.edu 37 11 13716484 13716484 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032228.5 +1 validated p.E58* 1.000 335 0% 140 30% - - - - - HMMPfam_NAD_binding_4,superfamily_NAD(P)-bd SPON1 10418 genome.wustl.edu 37 11 14284426 14284426 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000310358 +1 known p.R721Q 0.997 164 0% 89 40.4% - - unknown(0) - - NULL COPB1 1315 genome.wustl.edu 37 11 14515239 14515239 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144061.1 -1 reviewed p.R147Q 1.000 275 0% 118 34.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adaptin_N,superfamily_ARM-type_fold PDE3B 5140 genome.wustl.edu 37 11 14852292 14852292 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000922.3 +1 validated p.T619I 0.001 393 0% 114 28.9% - - benign(0.065) deleterious(0.01) neutral(0.410) NULL PDE3B 5140 genome.wustl.edu 37 11 14853290 14853290 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000922.3 +1 validated p.K687N 0.305 197 1% 50 32% - - possibly_damaging(0.762) tolerated(0.29) neutral(0.311) superfamily_HD-domain/PDEase-like PDE3B 5140 genome.wustl.edu 37 11 14865418 14865418 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000922.3 +1 validated p.S789L 0.999 591 0% 323 28.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like PDE3B 5140 genome.wustl.edu 37 11 14880728 14880728 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000922.3 +1 validated p.I887S 1.000 455 0% 254 38.6% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like CYP2R1 120227 genome.wustl.edu 37 11 14899811 14899811 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024514.4 -1 reviewed p.R455W 0.997 294 0% 154 32.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 SOX6 55553 genome.wustl.edu 37 11 16010673 16010673 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033326.3 -1 reviewed p.R592 0.386 162 0% 171 35.7% - - - - - superfamily_HMG-box PIK3C2A 5286 genome.wustl.edu 37 11 17132001 17132001 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002645.2 -1 validated p.C1174 0.999 467 0% 224 40.6% - - - - - HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) PIK3C2A 5286 genome.wustl.edu 37 11 17143822 17143822 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002645.2 -1 validated p.S857N 0.846 490 0% 287 38.3% - - benign(0.001) tolerated(0.58) neutral(0.005) superfamily_ARM repeat KCNJ11 3767 genome.wustl.edu 37 11 17408795 17408795 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000525.3 -1 reviewed p.E282K 1.000 211 0% 127 39.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_IRK,superfamily_Ig_E-set SERGEF 26297 genome.wustl.edu 37 11 18017455 18017455 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012139.2 -1 validated p.A170 0.230 218 0% 109 39.4% - - - - - superfamily_RCC1/BLIP-II TPH1 7166 genome.wustl.edu 37 11 18050711 18050711 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004179.2 -1 reviewed e5+1 1.000 195 0% 78 29.5% - - - - - - TPH1 7166 genome.wustl.edu 37 11 18051104 18051104 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004179.2 -1 reviewed p.R142H 1.000 198 0% 89 36% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Biopterin_H,superfamily_Aromatic aminoacid monoxygenases catalytic and oligomerization domains TPH1 7166 genome.wustl.edu 37 11 18054916 18054916 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004179.2 -1 reviewed p.E103* 1.000 135 0% 42 38.1% - - - - - superfamily_ACT-like SAA3P 6290 genome.wustl.edu 37 11 18134705 18134705 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000278207 -1 known p.E73K 0.011 148 0% 74 24.3% - - - - - HMMPfam_SAA,HMMSmart_SM00197 MRGPRX3 117195 genome.wustl.edu 37 11 18159292 18159292 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_054031.3 +1 reviewed p.I181 0.000 831 0% 457 34.1% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HPS5 11234 genome.wustl.edu 37 11 18313170 18313170 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181507.1 -1 reviewed p.K753N 0.000 253 0% 191 34% - - benign(0.017) tolerated(0.17) neutral(0.059) NULL LDHC 3948 genome.wustl.edu 37 11 18472540 18472540 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002301.4 +1 reviewed p.L289I 1.000 368 0% 171 35.7% - - probably_damaging(0.978) deleterious(0.01) deleterious(0.826) HMMPfam_Ldh_1_C,superfamily_Lactate_DH/Glyco_hydro_4_C LDHAL6A 160287 genome.wustl.edu 37 11 18487261 18487261 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144071.1 +1 validated p.D108Y 1.000 288 0% 188 31.4% - - possibly_damaging(0.524) deleterious(0) deleterious(0.621) HMMPfam_Ldh_1_N,superfamily_NAD(P)-bd UEVLD 55293 genome.wustl.edu 37 11 18591900 18591900 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040697.1 -1 validated p.R73H 0.874 329 0% 138 37% - - probably_damaging(0.996) tolerated(0.13) deleterious(0.714) HMMPfam_UEV,superfamily_UBC-like SPTY2D1 144108 genome.wustl.edu 37 11 18636920 18636920 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194285.2 -1 validated p.R301C 0.009 144 0% 87 33.3% - - probably_damaging(0.984) tolerated(0.1) deleterious(0.717) NULL MRGPRX2 117194 genome.wustl.edu 37 11 19077227 19077227 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_054030.2 -1 provisional p.I241 0.000 153 0% 76 25% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 NAV2 89797 genome.wustl.edu 37 11 19735396 19735396 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182964.5 +1 validated p.Y52C 0.992 35 0% 30 36.7% - - benign(0.189) deleterious(0.01) neutral(0.423) superfamily_Calponin-homology domain CH-domain LOC100289464 100289464 genome.wustl.edu 37 11 20136299 20136299 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343052.1 -1 model p.L78S 0.028 78 0% 65 12.3% - - - - - NULL LOC645490 645490 genome.wustl.edu 37 11 20596606 20596606 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_928515.4 +1 model p.Q356H 0.986 51 0% 36 30.6% - - - - - NULL SLC6A5 9152 genome.wustl.edu 37 11 20660082 20660082 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004211.3 +1 reviewed p.L649 0.713 678 0% 348 35.1% - - - - - HMMPfam_SNF SLC6A5 9152 genome.wustl.edu 37 11 20673873 20673873 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004211.3 +1 reviewed p.M703I 1.000 524 0.4% 316 36.7% - - benign(0.012) tolerated(0.48) neutral(0.011) HMMPfam_SNF SLC6A5 9152 genome.wustl.edu 37 11 20676343 20676343 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004211.3 +1 reviewed p.D775N 1.000 135 0% 107 27.1% - - possibly_damaging(0.546) deleterious(0.02) deleterious(0.569) NULL NELL1 4745 genome.wustl.edu 37 11 20869222 20869222 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006157.3 +1 reviewed p.R143 0.916 390 0.3% 197 34% - - - - - HMMSmart_SM00282,HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases NELL1 4745 genome.wustl.edu 37 11 20982022 20982022 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006157.3 +1 reviewed p.E406* 1.000 584 0.2% 287 15% - - - - - HMMSmart_SM00179,HMMSmart_SM00181,superfamily_EGF/Laminin ANO5 203859 genome.wustl.edu 37 11 22279291 22279291 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_213599.2 +1 reviewed p.V466 0.984 538 0% 250 36.4% - - - - - NULL ANO5 203859 genome.wustl.edu 37 11 22294456 22294456 + Missense_Mutation SNP C C G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_213599.2 +1 reviewed p.T719S 1.000 396 0% 247 38.1% - - benign(0.039) deleterious(0) neutral(0.447) HMMPfam_DUF590 SLC17A6 57084 genome.wustl.edu 37 11 22364816 22364816 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020346.2 +1 validated p.P121 0.718 136 0% 70 48.6% - - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter FANCF 2188 genome.wustl.edu 37 11 22646345 22646345 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022725.3 -1 reviewed p.D338N 0.991 277 0% 141 28.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LUZP2 338645 genome.wustl.edu 37 11 24998181 24998181 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009909.2 +1 validated p.K189N 1.000 217 0% 73 38.4% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL SLC5A12 159963 genome.wustl.edu 37 11 26714120 26714120 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178498.3 -1 validated p.A357T 1.000 146 0% 85 34.1% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL SLC5A12 159963 genome.wustl.edu 37 11 26732902 26732902 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178498.3 -1 validated p.L137I 1.000 209 0% 87 34.5% - - possibly_damaging(0.929) tolerated(0.3) neutral(0.405) HMMPfam_SSF KIF18A 81930 genome.wustl.edu 37 11 28045380 28045380 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031217.3 -1 validated p.S841L 0.000 266 0% 160 32.5% - - benign(0) deleterious(0.02) neutral(0.383) NULL METTL15 196074 genome.wustl.edu 37 11 28352148 28352148 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001113528.1 +1 validated p.I328 0.408 310 0.3% 182 39% - - - - - HMMPfam_Methyltransf_5,superfamily_S-adenosyl-L-methionine-dependent methyltransferases MPPED2 744 genome.wustl.edu 37 11 30410458 30410458 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145399.1 -1 reviewed p.S271Y 0.002 641 0% 410 16.8% - - benign(0.095) - - NULL DCDC5 100506627 genome.wustl.edu 37 11 30925140 30925140 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343054.1 -1 model p.D701Y 0.229 187 0% 101 40.6% - - probably_damaging(0.962) deleterious(0.04) deleterious(0.754) HMMPfam_DCX,HMMSmart_SM00537,superfamily_Doublecortin (DC) ENSG00000226746 0 genome.wustl.edu 37 11 30974070 30974070 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000399333 -1 known p.K498 1.000 599 0% 298 36.6% - - - - - NULL DCDC1 341019 genome.wustl.edu 37 11 31327806 31327806 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181807.2 -1 validated p.A188 1.000 304 0% 119 35.3% - - - - - superfamily_SSF89837 PAX6 5080 genome.wustl.edu 37 11 31816277 31816277 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001604.4 -1 reviewed p.E209K 1.000 207 0% 137 33.6% - - benign(0.001) tolerated(0.22) neutral(0.042) NULL WT1 7490 genome.wustl.edu 37 11 32417914 32417914 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024426.3 -1 reviewed p.R380W 0.967 179 0% 133 36.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_WT1 CCDC73 493860 genome.wustl.edu 37 11 32635562 32635562 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008391.2 -1 validated p.E768* 0.089 289 0% 153 34.6% - - - - - NULL CCDC73 493860 genome.wustl.edu 37 11 32636276 32636276 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008391.2 -1 validated p.E530* 0.011 341 0% 226 33.2% - - - - - NULL CCDC73 493860 genome.wustl.edu 37 11 32676421 32676421 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008391.2 -1 validated p.K248T 1.000 511 0% 210 19% - - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) NULL CCDC73 493860 genome.wustl.edu 37 11 32720835 32720835 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008391.2 -1 validated p.E118* 1.000 818 0% 317 30.3% - - - - - NULL QSER1 79832 genome.wustl.edu 37 11 32977590 32977590 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001076786.1 +1 provisional p.F1429L 0.997 380 0% 172 37.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL QSER1 79832 genome.wustl.edu 37 11 32977664 32977664 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001076786.1 +1 provisional p.I1454S 0.896 341 0% 170 40.6% - - benign(0.002) deleterious(0.02) neutral(0.383) NULL DEPDC7 91614 genome.wustl.edu 37 11 33047476 33047476 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077242.1 +1 validated p.V115 1.000 272 0% 190 35.3% - - - - - "HMMPfam_DEP,HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" DEPDC7 91614 genome.wustl.edu 37 11 33053022 33053022 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077242.1 +1 validated p.R294Q 0.893 278 0.7% 138 34.1% - - benign(0.195) tolerated(0.26) neutral(0.053) NULL TCP11L1 55346 genome.wustl.edu 37 11 33078667 33078667 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145541.1 +1 validated p.K101N 1.000 342 0% 157 36.9% - - - - - HMMPfam_Tcp11 TCP11L1 55346 genome.wustl.edu 37 11 33080512 33080512 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145541.1 +1 validated p.F216V 0.998 341 0% 169 44.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Tcp11 CSTF3 1479 genome.wustl.edu 37 11 33124687 33124687 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001326.2 -1 reviewed p.S210I 1.000 256 0% 90 30% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_TPR-like CSTF3 1479 genome.wustl.edu 37 11 33124691 33124691 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001326.2 -1 reviewed p.R209W 1.000 252 0% 82 40.2% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_TPR-like CSTF3 1479 genome.wustl.edu 37 11 33127192 33127192 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001326.2 -1 reviewed p.R169Q 1.000 298 0% 181 37% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00386,superfamily_TPR-like HIPK3 10114 genome.wustl.edu 37 11 33358691 33358691 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005734.3 +1 validated p.R431I 1.000 274 0% 162 35.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FBXO3 26273 genome.wustl.edu 37 11 33768742 33768742 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012175.3 -1 reviewed p.I391 0.973 281 0% 137 29.2% - - - - - superfamily_ApaG-like (Pfam 04379) NAT10 55226 genome.wustl.edu 37 11 34129866 34129866 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024662.2 +1 validated p.R32* 1.000 337 0% 146 32.2% - - - - - NULL CAT 847 genome.wustl.edu 37 11 34474692 34474692 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001752.3 +1 reviewed p.P179L 0.961 297 0% 142 40.1% - - possibly_damaging(0.787) deleterious(0) deleterious(0.739) superfamily_Catalase_N,HMMPfam_Catalase PDHX 8050 genome.wustl.edu 37 11 35016488 35016488 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003477.2 +1 reviewed p.I425 1.000 256 0% 143 32.2% - - - - - HMMPfam_2-oxoacid_dh,superfamily_SSF52777 SLC1A2 6506 genome.wustl.edu 37 11 35287082 35287082 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004171.3 -1 reviewed p.E549* 1.000 427 0% 336 33.9% - - - - - NULL FJX1 24147 genome.wustl.edu 37 11 35641210 35641210 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014344.3 +1 reviewed p.G342 0.986 25 0% 22 27.3% - - - - - NULL RAG2 5897 genome.wustl.edu 37 11 36614849 36614849 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000536.3 -1 reviewed p.I290 0.005 293 0% 165 18.2% - - - - - HMMPfam_RAG2 RAG2 5897 genome.wustl.edu 37 11 36615357 36615357 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000536.3 -1 reviewed p.T121N 1.000 412 0.2% 228 37.7% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_RAG2 LOC399881 399881 genome.wustl.edu 37 11 43284617 43284617 + RNA SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_040375.2 -1 model NULL 1.000 90 0% 46 15.2% - - - - - - ACCS 84680 genome.wustl.edu 37 11 44104734 44104734 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127219.1 +1 validated p.V376A 1.000 200 0% 110 35.5% - - probably_damaging(0.992) tolerated(0.12) deleterious(0.708) HMMPfam_Aminotran_1_2,superfamily_PyrdxlP-dep_Trfase_major EXT2 2132 genome.wustl.edu 37 11 44129652 44129652 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000401.3 +1 reviewed p.Y143 0.995 216 0% 124 33.9% - - - - - HMMPfam_Exostosin ALX4 60529 genome.wustl.edu 37 11 44297051 44297051 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021926.3 -1 reviewed p.E208D 1.000 208 0% 113 36.3% - - possibly_damaging(0.793) tolerated(0.22) neutral(0.340) superfamily_Homeodomain_like PRDM11 56981 genome.wustl.edu 37 11 45245972 45245972 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020229.2 +1 validated p.A350V 0.027 125 0% 63 31.7% - - benign(0.15) deleterious(0) neutral(0.458) NULL DGKZ 8525 genome.wustl.edu 37 11 46393654 46393654 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105540.1 +1 reviewed p.R475 0.997 28 0% 25 36% - - - - - NULL DGKZ 8525 genome.wustl.edu 37 11 46398650 46398650 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105540.1 +1 reviewed p.A932T 1.000 127 0% 100 38% - - benign(0.001) deleterious(0.02) neutral(0.383) NULL ZNF408 79797 genome.wustl.edu 37 11 46727371 46727371 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024741.2 +1 validated p.L707 0.003 83 0% 36 38.9% - - - - - NULL CKAP5 9793 genome.wustl.edu 37 11 46772782 46772782 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008938.1 -1 validated p.I1782 0.980 425 0% 257 40.1% - - - - - NULL CKAP5 9793 genome.wustl.edu 37 11 46829637 46829637 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008938.1 -1 validated p.K308Q 1.000 625 0% 356 43.5% - - benign(0.011) tolerated(0.71) neutral(0.002) superfamily_ARM repeat CKAP5 9793 genome.wustl.edu 37 11 46837802 46837802 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008938.1 -1 validated p.N135 1.000 291 0.3% 178 36% - - - - - superfamily_ARM repeat MADD 8567 genome.wustl.edu 37 11 47306581 47306581 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003682.3 +1 reviewed p.S749 0.000 155 0% 106 13.2% - - - - - NULL MADD 8567 genome.wustl.edu 37 11 47336866 47336866 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003682.3 +1 reviewed p.I1455 1.000 337 0.3% 224 33% - - - - - NULL MADD 8567 genome.wustl.edu 37 11 47348331 47348331 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003682.3 +1 reviewed p.R1589* 1.000 407 0% 249 28.9% - - - - - NULL PSMC3 5702 genome.wustl.edu 37 11 47446717 47446717 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002804.4 -1 reviewed p.I80 1.000 498 0% 408 30.9% - - - - - NULL CELF1 10658 genome.wustl.edu 37 11 47506004 47506004 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001025596.2 -1 reviewed p.F128L 1.000 200 0% 107 39.3% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD KBTBD4 55709 genome.wustl.edu 37 11 47599403 47599403 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018095.4 -1 validated p.S66L 0.996 131 0% 81 42% - - benign(0) tolerated(0.1) neutral(0.286) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB OR4X2 119764 genome.wustl.edu 37 11 48266964 48266964 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004727.1 +1 provisional p.E103D 0.278 240 0% 152 36.8% - - probably_damaging(0.995) tolerated(0.09) deleterious(0.754) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LOC283116 283116 genome.wustl.edu 37 11 49055764 49055764 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_208043.4 +1 model p.E192* 0.010 451 0.2% 200 30.5% - - - - - NULL LOC646754 646754 genome.wustl.edu 37 11 49075371 49075371 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_929704.3 -1 model p.G416 0.001 922 0% 341 33.7% - - - - - HMMPfam_SPRY,HMMSmart_SM00449 OR4C13 283092 genome.wustl.edu 37 11 49974867 49974867 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001955.2 +1 validated p.K298R 0.520 189 0% 93 37.6% - - benign(0.189) tolerated(0.17) neutral(0.076) superfamily_SSF81321 OR4A5 81318 genome.wustl.edu 37 11 51411637 51411637 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005272.3 -1 validated p.F253L 0.279 95 0% 45 20% - - possibly_damaging(0.523) tolerated(0.12) neutral(0.437) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4A15 81328 genome.wustl.edu 37 11 55136211 55136211 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005275.1 +1 provisional p.F284L 0.000 587 0% 357 32.8% - - probably_damaging(0.99) tolerated(0.12) deleterious(0.702) HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000181950 0 genome.wustl.edu 37 11 55234577 55234577 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000314689 +1 known p.F16V 0.517 135 0% 61 21.3% - - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like ENSG00000181950 0 genome.wustl.edu 37 11 55234965 55234965 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000314689 +1 known p.S145L 1.000 124 0% 37 35.1% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4C16 219428 genome.wustl.edu 37 11 55339956 55339956 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004701.2 +1 validated p.V118A 0.000 324 0% 199 31.2% - - benign(0.003) deleterious(0.02) neutral(0.383) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR4C16 219428 genome.wustl.edu 37 11 55340398 55340398 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004701.2 +1 validated p.M265I 0.587 331 0% 160 34.4% - - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 OR4P4 81300 genome.wustl.edu 37 11 55406178 55406178 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004124.1 +1 provisional p.G115 0.013 150 0% 65 27.7% - - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR5D18 219438 genome.wustl.edu 37 11 55587573 55587573 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001952.1 +1 provisional p.C156 0.011 386 0% 263 37.6% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5L2 26338 genome.wustl.edu 37 11 55594907 55594907 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004739.1 +1 provisional p.F71L 0.163 660 0.2% 402 28.1% - - benign(0.006) tolerated(0.96) - HMMPfam_7tm_1,superfamily_SSF81321 SPRYD5 84767 genome.wustl.edu 37 11 55655656 55655656 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032681.3 +1 validated p.M219T 0.002 352 0% 147 40.8% - - possibly_damaging(0.932) deleterious(0) deleterious(0.823) NULL SPRYD5 84767 genome.wustl.edu 37 11 55658887 55658887 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032681.3 +1 validated p.L380I 0.817 445 0% 177 20.9% - - possibly_damaging(0.927) tolerated(0.29) neutral(0.404) HMMPfam_SPRY OR5W2 390148 genome.wustl.edu 37 11 55681169 55681169 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001960.1 -1 provisional p.V297A 1.000 122 0% 56 41.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81321 OR5I1 10798 genome.wustl.edu 37 11 55703510 55703510 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006637.1 -1 reviewed p.D123Y 0.999 123 0% 47 36.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR8H3 390152 genome.wustl.edu 37 11 55890621 55890621 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005201.1 +1 provisional p.T258N 0.042 436 0% 184 35.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_SSF81321 OR8H3 390152 genome.wustl.edu 37 11 55890710 55890710 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005201.1 +1 provisional p.L288F 0.997 286 0% 145 44.8% - - probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_7tm_1,superfamily_SSF81321 OR8K5 219453 genome.wustl.edu 37 11 55927347 55927347 + Nonsense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004058.2 -1 validated p.Y149* 0.000 189 0% 85 38.8% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5T2 219464 genome.wustl.edu 37 11 56000147 56000147 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004746.1 -1 provisional p.S172* 0.002 381 0% 215 26.5% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR8K3 219473 genome.wustl.edu 37 11 56086249 56086249 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005202.1 +1 provisional p.S156Y 0.005 249 0% 128 40.6% - - probably_damaging(0.962) deleterious(0) deleterious(0.850) HMMPfam_7tm_1,superfamily_SSF81321 OR8J1 219477 genome.wustl.edu 37 11 56128214 56128214 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005205.1 +1 provisional p.F164L 0.000 518 0% 276 38.8% - - probably_damaging(0.998) tolerated(0.25) deleterious(0.511) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8J1 219477 genome.wustl.edu 37 11 56128665 56128665 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005205.1 +1 provisional p.T315A 0.000 104 0% 51 43.1% - - benign(0) tolerated(0.53) neutral(0.007) NULL OR8U1 219417 genome.wustl.edu 37 11 56143139 56143139 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005204.1 +1 provisional p.L14I 1.000 292 0% 164 37.2% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_SSF81321 OR8U1 219417 genome.wustl.edu 37 11 56143730 56143730 + Missense_Mutation SNP C C A rs55860603 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005204.1 +1 provisional p.L211I 0.000 468 0% 320 26.9% - - benign(0.013) tolerated(0.45) neutral(0.013) HMMPfam_7tm_1,superfamily_SSF81321 OR8U1 219417 genome.wustl.edu 37 11 56143894 56143894 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005204.1 +1 provisional p.S265 0.000 184 0% 132 41.7% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000230416 0 genome.wustl.edu 37 11 56216525 56216525 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000415874 +1 known p.N126 0.101 74 0% 38 42.1% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5M9 390162 genome.wustl.edu 37 11 56230006 56230006 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004743.1 -1 provisional p.R291I 0.118 127 0% 80 30% - - possibly_damaging(0.922) deleterious(0) deleterious(0.816) superfamily_SSF81321 OR5M9 390162 genome.wustl.edu 37 11 56230312 56230312 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004743.1 -1 provisional p.R189I 0.001 160 0% 102 38.2% - - benign(0.001) deleterious(0) neutral(0.445) HMMPfam_7tm_1,superfamily_SSF81321 OR5M3 219482 genome.wustl.edu 37 11 56237137 56237137 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004742.1 -1 provisional p.V279 0.470 115 0% 72 34.7% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5M3 219482 genome.wustl.edu 37 11 56237958 56237958 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004742.1 -1 provisional p.D6N 0.065 106 0% 53 41.5% - - benign(0.001) tolerated(0.5) neutral(0.010) superfamily_Family A G protein-coupled receptor-like OR5M1 390168 genome.wustl.edu 37 11 56380609 56380609 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004740.1 -1 provisional p.V124L 0.795 455 0% 240 37.1% - - possibly_damaging(0.748) deleterious(0.03) deleterious(0.639) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR9G1 390174 genome.wustl.edu 37 11 56468071 56468071 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005213.1 +1 provisional p.L70I 0.995 708 0% 423 19.6% - - benign(0.013) tolerated(0.48) neutral(0.011) HMMPfam_7tm_1,superfamily_SSF81321 OR9G1 390174 genome.wustl.edu 37 11 56468684 56468684 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005213.1 +1 provisional p.S274Y 0.492 592 0% 292 15.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR5AK2 390181 genome.wustl.edu 37 11 56756655 56756655 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005323.1 +1 provisional p.K89N 0.000 323 0% 186 41.9% - - benign(0) tolerated(0.52) neutral(0.009) HMMPfam_7tm_1,superfamily_SSF81321 LRRC55 219527 genome.wustl.edu 37 11 56949388 56949388 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005210.2 +1 validated p.F7L 0.001 49 0% 39 38.5% - - benign(0.007) - - NULL TNKS1BP1 85456 genome.wustl.edu 37 11 57080392 57080392 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033396.2 -1 validated p.Y590 0.000 85 0% 89 42.7% - - - - - NULL P2RX3 5024 genome.wustl.edu 37 11 57118325 57118325 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002559.2 +1 reviewed p.L265 0.000 145 0% 84 44% - - - - - HMMPfam_P2X_receptor RTN4RL2 349667 genome.wustl.edu 37 11 57235208 57235208 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178570.1 +1 provisional p.S53F 0.924 266 0% 193 37.8% - - possibly_damaging(0.609) deleterious(0) deleterious(0.655) HMMSmart_LRRNT,superfamily_SSF52058 CTNND1 1500 genome.wustl.edu 37 11 57575670 57575670 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001085458.1 +1 validated p.R666Q 1.000 304 0% 172 28.5% - - probably_damaging(0.993) tolerated(0.17) deleterious(0.509) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat ENSG00000196779 0 genome.wustl.edu 37 11 57876831 57876831 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000357944 -1 known p.F101L 0.998 28 0% 19 31.6% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR1S2 219958 genome.wustl.edu 37 11 57970967 57970967 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004459.1 -1 validated p.F229L 0.874 648 0% 307 31.9% - - benign(0.14) tolerated(0.3) neutral(0.041) HMMPfam_7tm_1,superfamily_SSF81321 OR5B3 441608 genome.wustl.edu 37 11 58170689 58170689 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005469.1 -1 validated p.S65F 0.416 232 0% 129 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR5B2 390190 genome.wustl.edu 37 11 58189874 58189874 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005566.2 -1 validated p.V287 0.997 270 0% 157 35% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5B2 390190 genome.wustl.edu 37 11 58190099 58190099 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005566.2 -1 validated p.I212 0.000 185 0% 117 37.6% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5B12 390191 genome.wustl.edu 37 11 58207029 58207029 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004733.2 -1 validated p.F199C 0.016 213 0% 91 41.8% - - benign(0) tolerated(0.13) neutral(0.253) HMMPfam_7tm_1,superfamily_SSF81321 LPXN 9404 genome.wustl.edu 37 11 58295053 58295053 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143995.1 -1 reviewed p.G350 1.000 151 0% 77 40.3% - - - - - HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 GLYAT 10249 genome.wustl.edu 37 11 58477429 58477429 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_201648.2 -1 validated p.L234S 0.421 133 0% 89 37.1% - - benign(0.412) deleterious(0) deleterious(0.578) HMMPfam_Gly_acyl_tr_C,superfamily_Acyl-CoA N-acyltransferases (Nat) GLYATL2 219970 genome.wustl.edu 37 11 58601914 58601914 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145016.3 -1 validated p.K291N 0.037 112 0% 80 48.7% - - benign(0.198) tolerated(0.2) neutral(0.068) NULL GLYATL2 219970 genome.wustl.edu 37 11 58602042 58602042 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145016.3 -1 validated p.L249I 0.000 232 0% 136 34.6% - - probably_damaging(0.973) deleterious(0.02) deleterious(0.798) HMMPfam_Gly_acyl_tr_C,superfamily_Acyl-CoA N-acyltransferases (Nat) FAM111A 63901 genome.wustl.edu 37 11 58919674 58919674 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142519.1 +1 validated p.S178L 0.000 335 0.3% 135 34.8% - - benign(0.025) deleterious(0.01) neutral(0.407) NULL OR5AN1 390195 genome.wustl.edu 37 11 59132013 59132013 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004729.1 +1 provisional p.L28F 0.977 335 0% 135 37.8% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) superfamily_SSF81321 OR4D11 219986 genome.wustl.edu 37 11 59271355 59271355 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004706.1 +1 provisional p.L103I 0.791 452 0% 312 10.6% - - benign(0.038) tolerated(0.16) neutral(0.061) HMMPfam_7tm_1,superfamily_SSF81321 PATL1 219988 genome.wustl.edu 37 11 59415336 59415336 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152716.2 -1 validated p.R595I 1.000 322 0% 198 43.4% - - possibly_damaging(0.773) deleterious(0.02) deleterious(0.670) HMMPfam_PAT1 PATL1 219988 genome.wustl.edu 37 11 59420448 59420448 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152716.2 -1 validated p.R389W 1.000 196 0% 103 32% - - possibly_damaging(0.902) deleterious(0.03) deleterious(0.722) HMMPfam_PAT1 PATL1 219988 genome.wustl.edu 37 11 59425061 59425061 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152716.2 -1 validated p.R188I 1.000 305 0% 162 50% - - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) HMMPfam_PAT1 STX3 6809 genome.wustl.edu 37 11 59559682 59559682 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004177.4 +1 reviewed p.E154K 1.000 146 0% 108 37% - - probably_damaging(1) tolerated(0.24) deleterious(0.537) superfamily_t-snare proteins TCN1 6947 genome.wustl.edu 37 11 59622171 59622171 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001062.3 -1 reviewed p.L359F 0.984 320 0% 191 35.6% - - benign(0.372) deleterious(0.03) deleterious(0.483) NULL MS4A6A 64231 genome.wustl.edu 37 11 59942913 59942913 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152852.1 -1 reviewed p.Y171H 0.000 286 0% 164 31.7% - - benign(0.282) tolerated(0.45) neutral(0.098) HMMPfam_CD20 MS4A4A 51338 genome.wustl.edu 37 11 60070085 60070085 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_148975.1 +1 reviewed p.G147 0.044 394 0.3% 262 36.3% - - - - - HMMPfam_CD20 MS4A14 84689 genome.wustl.edu 37 11 60167907 60167907 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032597.3 +1 validated p.D100Y 0.000 396 0.3% 200 32% - - benign(0.429) deleterious(0.02) deleterious(0.522) HMMPfam_CD20 MS4A14 84689 genome.wustl.edu 37 11 60183177 60183177 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032597.3 +1 validated p.E246* 0.035 149 0% 92 39.1% - - - - - NULL MS4A13 503497 genome.wustl.edu 37 11 60296927 60296927 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012417.2 +1 validated p.S132 0.000 519 0% 294 16.3% - - - - - HMMPfam_CD20 ZP1 22917 genome.wustl.edu 37 11 60636620 60636620 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207341.2 +1 validated p.E67* 1.000 174 0% 91 31.9% - - - - - NULL CD6 923 genome.wustl.edu 37 11 60786760 60786760 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006725.3 +1 validated p.N659 0.000 71 0% 73 34.2% - - - - - NULL CD5 921 genome.wustl.edu 37 11 60885651 60885651 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014207.3 +1 validated p.F33L 0.011 245 0% 107 39.3% - - benign(0) tolerated(1) - superfamily_SRCR-like VPS37C 55048 genome.wustl.edu 37 11 60901633 60901633 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017966.4 -1 validated p.R47Q 1.000 58 0% 63 34.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Mod_r DDB1 1642 genome.wustl.edu 37 11 61070162 61070162 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001923.3 -1 validated p.E1002K 1.000 160 0% 119 28.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_CPSF_A DDB1 1642 genome.wustl.edu 37 11 61070621 61070621 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001923.3 -1 validated p.R947* 1.000 372 0% 160 21.2% - - - - - HMMPfam_CPSF_A CYBASC3 220002 genome.wustl.edu 37 11 61124092 61124092 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153611.4 -1 validated p.R32C 0.995 335 0% 157 39.5% - - possibly_damaging(0.893) deleterious(0.02) deleterious(0.735) HMMPfam_Cytochrom_B561 SDHAF2 54949 genome.wustl.edu 37 11 61205313 61205313 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017841.1 +1 provisional p.L85I 0.971 171 0% 111 38.7% - - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMPfam_DUF339,superfamily_DUF339 C11orf10 746 genome.wustl.edu 37 11 61557985 61557985 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014206.3 -1 validated p.F31L 1.000 211 0% 116 38.8% - - possibly_damaging(0.636) tolerated(0.77) neutral(0.224) HMMPfam_UPF0197 FADS2 9415 genome.wustl.edu 37 11 61630802 61630802 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004265.2 +1 reviewed p.I343 0.996 112 0% 89 19.1% - - - - - HMMPfam_FA_desaturase FTH1 2495 genome.wustl.edu 37 11 61732267 61732267 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002032.2 -1 reviewed p.P162S 1.000 262 0% 178 41.6% - - benign(0) tolerated(0.12) neutral(0.261) superfamily_Ferritin-like AHNAK 79026 genome.wustl.edu 37 11 62286736 62286736 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001620.1 -1 validated p.I5051 0.009 199 0% 130 18.5% - - - - - NULL AHNAK 79026 genome.wustl.edu 37 11 62286994 62286994 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001620.1 -1 validated p.I4965 0.003 190 0% 102 34.3% - - - - - NULL AHNAK 79026 genome.wustl.edu 37 11 62288734 62288734 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001620.1 -1 validated p.I4385 1.000 310 0% 162 29.6% - - - - - NULL AHNAK 79026 genome.wustl.edu 37 11 62294167 62294167 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001620.1 -1 validated p.I2574 0.971 576 0% 352 11.4% - - - - - NULL AHNAK 79026 genome.wustl.edu 37 11 62298192 62298192 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001620.1 -1 validated p.G1233* 0.997 720 0% 406 37.9% - - - - - NULL EML3 256364 genome.wustl.edu 37 11 62371266 62371266 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153265.2 -1 validated p.H731R 1.000 502 0% 228 11.4% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 GANAB 23193 genome.wustl.edu 37 11 62396373 62396373 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198335.2 -1 validated p.R705Q 1.000 123 0% 70 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_31 GANAB 23193 genome.wustl.edu 37 11 62406547 62406547 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198335.2 -1 validated p.K96N 1.000 99 0% 89 14.6% - - benign(0.001) tolerated(0.44) neutral(0.013) NULL BSCL2 26580 genome.wustl.edu 37 11 62462159 62462159 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001122955.2 -1 reviewed p.R171C 0.964 210 0% 105 35.2% - - probably_damaging(0.993) deleterious(0.02) deleterious(0.833) HMMPfam_Seipin GNG3 2785 genome.wustl.edu 37 11 62476260 62476260 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012202.3 +1 validated p.F70L 1.000 119 0% 71 38% - - benign(0.007) tolerated(0.78) neutral(0.001) HMMSmart_SM00224 NXF1 10482 genome.wustl.edu 37 11 62560123 62560123 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006362.4 -1 reviewed p.T604I 1.000 448 0% 280 36.8% - - probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_TAP_C,HMMSmart_TAP_C,superfamily_UBA_like STX5 6811 genome.wustl.edu 37 11 62598650 62598650 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003164.3 -1 validated p.K22N 1.000 31 0% 22 40.9% - - possibly_damaging(0.722) deleterious(0.03) deleterious(0.627) NULL CHRM1 1128 genome.wustl.edu 37 11 62677285 62677285 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000738.2 -1 reviewed p.R430C 1.000 197 0% 90 36.7% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Family A G protein-coupled receptor-like SLC22A6 9356 genome.wustl.edu 37 11 62751076 62751076 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004790.3 -1 reviewed p.I187 0.340 195 0% 103 32% - - unknown(0) deleterious(0) - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A24 283238 genome.wustl.edu 37 11 62849108 62849108 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136506.1 -1 validated p.T439N 0.001 254 0% 109 12.8% - - possibly_damaging(0.952) tolerated(0.09) deleterious(0.692) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A10 387775 genome.wustl.edu 37 11 63067097 63067097 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039752.3 +1 validated p.L356 0.019 259 0% 141 41.8% - - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A9 114571 genome.wustl.edu 37 11 63137598 63137598 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080866.2 +1 validated p.L24I 0.002 284 0% 139 10.8% - - benign(0.037) tolerated(0.32) neutral(0.026) NULL RTN3 10313 genome.wustl.edu 37 11 63472347 63472347 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_201429.1 +1 validated p.S56F 1.000 810 0% 438 34.2% - - unknown(0) deleterious(0.02) - NULL RCOR2 283248 genome.wustl.edu 37 11 63681556 63681556 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173587.3 -1 validated p.R254Q 0.985 123 0% 91 37.4% - - possibly_damaging(0.939) deleterious(0.01) deleterious(0.790) NULL FERMT3 83706 genome.wustl.edu 37 11 63990846 63990846 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178443.2 +1 reviewed p.R629Q 0.980 145 0% 84 47.6% - - benign(0.384) deleterious(0) deleterious(0.567) NULL TRPT1 83707 genome.wustl.edu 37 11 63992424 63992424 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001033678.3 -1 validated p.G59D 0.000 28 0% 15 33.3% - - benign(0) tolerated(0.99) - HMMPfam_PTS_2-RNA VEGFB 7423 genome.wustl.edu 37 11 64003777 64003777 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003377.3 +1 provisional p.E118* 1.000 188 0% 131 44.3% - - - - - HMMPfam_PDGF,HMMSmart_SM00141,superfamily_Cystine-knot cytokines PLCB3 5331 genome.wustl.edu 37 11 64030268 64030268 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000932.2 +1 reviewed p.F781 0.864 57 0% 38 28.9% - - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) NRXN2 9379 genome.wustl.edu 37 11 64402904 64402904 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015080.2 -1 reviewed p.G1142R 1.000 81 0% 54 18.5% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Concanavalin A-like lectins/glucanases NRXN2 9379 genome.wustl.edu 37 11 64419008 64419008 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015080.2 -1 reviewed p.I879 1.000 81 0% 59 40.7% - - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 PYGM 5837 genome.wustl.edu 37 11 64514729 64514729 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005609.2 -1 reviewed p.K760T 1.000 149 0% 115 29.6% - - benign(0.001) tolerated(0.12) neutral(0.261) HMMPfam_Phosphorylase,superfamily_SSF53756 PYGM 5837 genome.wustl.edu 37 11 64520620 64520620 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005609.2 -1 reviewed p.Q481H 1.000 153 0% 83 32.5% - - probably_damaging(0.994) tolerated(0.51) neutral(0.461) HMMPfam_Phosphorylase,superfamily_SSF53756 MEN1 4221 genome.wustl.edu 37 11 64575556 64575556 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000244.3 -1 reviewed p.S159N 1.000 83 0% 58 37.9% - - possibly_damaging(0.915) deleterious(0.01) deleterious(0.772) HMMPfam_Menin MEN1 4221 genome.wustl.edu 37 11 64577295 64577295 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000244.3 -1 reviewed p.Q96P 1.000 131 0% 75 40% - - possibly_damaging(0.85) tolerated(0.05) deleterious(0.672) HMMPfam_Menin ATG2A 23130 genome.wustl.edu 37 11 64673064 64673064 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000418259 -1 known p.H947N 1.000 366 0% 205 34.1% - - - - - NULL PPP2R5B 5526 genome.wustl.edu 37 11 64695547 64695547 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006244.3 +1 reviewed p.E170* 1.000 723 0% 416 33.9% - - - - - HMMPfam_B56 C11orf85 283129 genome.wustl.edu 37 11 64722243 64722243 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001037225.1 -1 predicted p.T45A 0.003 397 0% 227 37% - - benign(0) tolerated(0.16) neutral(0.059) NULL NAALADL1 10004 genome.wustl.edu 37 11 64821937 64821937 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005468.2 -1 validated p.D293Y 0.000 71 0% 81 33.3% - - benign(0) deleterious(0.04) neutral(0.349) superfamily_Transferrin receptor ectodomain apical domain,superfamily_Zn-dependent exopeptidases SCYL1 57410 genome.wustl.edu 37 11 65303605 65303605 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020680.3 +1 reviewed p.R523Q 1.000 145 0% 102 37.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat EHBP1L1 254102 genome.wustl.edu 37 11 65349944 65349944 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099409.1 +1 validated p.E601* 0.102 87 0% 27 14.8% - - - - - NULL PCNXL3 399909 genome.wustl.edu 37 11 65396095 65396095 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032223.2 +1 validated p.F1244 0.163 176 0% 113 43.4% - - - - - NULL KAT5 10524 genome.wustl.edu 37 11 65484236 65484236 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182710.1 +1 reviewed p.E376D 1.000 273 0.4% 224 40.2% - - benign(0.029) tolerated(0.18) neutral(0.058) HMMPfam_MOZ_SAS,superfamily_Acyl-CoA N-acyltransferases (Nat) SNX32 254122 genome.wustl.edu 37 11 65618540 65618540 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152760.2 +1 validated p.F206L 1.000 152 0% 95 13.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Vps5 TSGA10IP 254187 genome.wustl.edu 37 11 65726763 65726763 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000312452 +1 known p.E37* 0.004 31 0% 31 32.3% - - - - - NULL BANF1 8815 genome.wustl.edu 37 11 65771229 65771229 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143985.1 +1 reviewed p.D86N 0.997 172 0% 130 26.2% - - benign(0.001) tolerated(0.2) neutral(0.049) HMMPfam_BAF,superfamily_Barrier-to-autointegration factor BAF SF3B2 10992 genome.wustl.edu 37 11 65819969 65819969 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006842.2 +1 reviewed p.E38D 1.000 66 0% 53 43.4% - - unknown(0) deleterious(0) - HMMPfam_SAP,HMMSmart_SM00513 SF3B2 10992 genome.wustl.edu 37 11 65830581 65830581 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006842.2 +1 reviewed p.E693D 1.000 437 0% 214 35.5% - - benign(0) tolerated(1) - NULL PACS1 55690 genome.wustl.edu 37 11 65960978 65960978 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018026.2 +1 reviewed p.K126N 1.000 297 0% 152 38.2% - - benign(0.399) tolerated(0.39) neutral(0.145) NULL PACS1 55690 genome.wustl.edu 37 11 65983676 65983676 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018026.2 +1 reviewed p.K249N 1.000 131 0% 83 16.9% - - possibly_damaging(0.901) tolerated(0.16) neutral(0.416) NULL PACS1 55690 genome.wustl.edu 37 11 66001364 66001364 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018026.2 +1 reviewed p.K649N 1.000 93 0% 61 36.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pacs-1 TMEM151A 256472 genome.wustl.edu 37 11 66061904 66061904 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153266.3 +1 validated p.R63C 1.000 43 0% 56 39.3% - - probably_damaging(0.953) deleterious(0.02) deleterious(0.780) NULL RIN1 9610 genome.wustl.edu 37 11 66101470 66101470 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004292.2 -1 validated p.R504H 0.011 18 0% 15 40% - - benign(0.03) tolerated(0.1) neutral(0.288) HMMPfam_VPS9,HMMSmart_SM00167,superfamily_VPS9 domain (Pfam 02204) DPP3 10072 genome.wustl.edu 37 11 66254023 66254023 + Missense_Mutation SNP C C T rs145463220 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005700.3 +1 reviewed p.R125W 0.898 107 0% 62 33.9% - - probably_damaging(0.976) deleterious(0.02) deleterious(0.801) NULL ACTN3 89 genome.wustl.edu 37 11 66323623 66323623 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001104.1 +1 reviewed p.V242 1.000 181 0% 118 31.4% - - - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain CCDC87 55231 genome.wustl.edu 37 11 66360052 66360052 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018219.2 -1 validated p.F145L 1.000 38 0% 35 48.6% - - benign(0.008) deleterious(0) neutral(0.445) NULL C11orf80 79703 genome.wustl.edu 37 11 66526554 66526554 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024650.3 +1 validated p.K170N 0.014 515 0% 256 31.2% - - possibly_damaging(0.819) deleterious(0) deleterious(0.754) NULL C11orf80 79703 genome.wustl.edu 37 11 66581411 66581411 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024650.3 +1 validated p.D372Y 0.959 326 0% 148 29.7% - - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL PC 5091 genome.wustl.edu 37 11 66638262 66638262 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000920.3 -1 reviewed p.I245 0.992 60 0% 40 35% - - - - - HMMPfam_CPSase_L_D2,superfamily_SSF56059 SYT12 91683 genome.wustl.edu 37 11 66807539 66807539 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_177963.3 +1 reviewed p.Y162 1.000 80 1.3% 69 30.4% - - - - - superfamily_C2_CaLB SYT12 91683 genome.wustl.edu 37 11 66811213 66811213 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_177963.3 +1 reviewed p.I242 0.293 157 0% 103 24.3% - - - - - HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB KDM2A 22992 genome.wustl.edu 37 11 67021049 67021049 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012308.2 +1 reviewed p.R1020W 1.000 210 0.5% 102 30.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00367,superfamily_RNI-like KDM2A 22992 genome.wustl.edu 37 11 67022438 67022438 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012308.2 +1 reviewed p.R1134Q 0.804 150 0.7% 120 31.7% - - possibly_damaging(0.777) tolerated(0.2) neutral(0.339) superfamily_RNI-like CABP4 57010 genome.wustl.edu 37 11 67225864 67225864 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145200.3 +1 reviewed p.R225Q 0.000 134 0% 69 21.7% - - benign(0.26) tolerated(0.3) neutral(0.056) HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand PITPNM1 9600 genome.wustl.edu 37 11 67263745 67263745 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004910.2 -1 validated p.E741K 1.000 58 0% 37 37.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DDHD PITPNM1 9600 genome.wustl.edu 37 11 67269482 67269482 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004910.2 -1 validated p.S164L 0.998 67 0% 46 32.6% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_IP_trans,superfamily_Bet v1-like TBX10 347853 genome.wustl.edu 37 11 67400541 67400541 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005995.3 -1 provisional p.R195C 1.000 426 0% 208 42.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd ACY3 91703 genome.wustl.edu 37 11 67414477 67414477 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080658.1 -1 validated p.R13H 0.515 19 0% 21 38.1% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_AstE_AspA UNC93B1 81622 genome.wustl.edu 37 11 67766710 67766710 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000227471 -1 known p.R207Q 0.883 90 0% 45 17.8% - - benign(0.006) deleterious(0.01) neutral(0.406) NULL CHKA 1119 genome.wustl.edu 37 11 67821495 67821495 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001277.2 -1 reviewed p.F445C 1.000 188 0% 97 36.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Protein kinase-like (PK-like) CHKA 1119 genome.wustl.edu 37 11 67838215 67838215 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001277.2 -1 reviewed p.K247T 1.000 347 0% 213 43.7% - - benign(0) tolerated(0.4) neutral(0.016) HMMPfam_Choline_kinase,superfamily_Protein kinase-like (PK-like) CHKA 1119 genome.wustl.edu 37 11 67848900 67848900 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001277.2 -1 reviewed p.E163K 1.000 394 0% 216 37% - - benign(0.032) tolerated(0.63) neutral(0.005) HMMPfam_Choline_kinase,superfamily_Protein kinase-like (PK-like) CHKA 1119 genome.wustl.edu 37 11 67864498 67864498 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001277.2 -1 reviewed p.A150 0.068 253 0% 118 26.3% - - - - - HMMPfam_Choline_kinase,superfamily_Protein kinase-like (PK-like) SUV420H1 51111 genome.wustl.edu 37 11 67926403 67926403 + Silent SNP G G A rs185204835 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017635.3 -1 reviewed p.L470 0.901 362 0% 204 27.5% - - - - - NULL SUV420H1 51111 genome.wustl.edu 37 11 67942647 67942647 + Nonsense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000427752 -1 known p.L150* 1.000 340 0% 208 40.4% - - - - - NULL LRP5 4041 genome.wustl.edu 37 11 68181318 68181318 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002335.2 +1 reviewed p.V889M 1.000 64 0% 53 41.5% - - possibly_damaging(0.529) deleterious(0) deleterious(0.623) HMMPfam_Ldl_recept_b,superfamily_YWTD domain LRP5 4041 genome.wustl.edu 37 11 68205996 68205996 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002335.2 +1 reviewed p.F1398 0.969 189 0% 128 37.5% - - - - - NULL PPP6R3 55291 genome.wustl.edu 37 11 68343450 68343450 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018312.4 +1 validated p.R444Q 1.000 417 0% 196 40.8% - - benign(0.337) tolerated(0.09) neutral(0.402) HMMPfam_SAPS PPP6R3 55291 genome.wustl.edu 37 11 68382368 68382368 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000413788 +1 known p.V174M 0.002 19 0% 14 28.6% - - unknown(0) deleterious(0) - HMMPfam_SAPS MRGPRD 116512 genome.wustl.edu 37 11 68747955 68747955 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198923.2 -1 validated p.F167L 0.000 130 0% 63 22.2% - - benign(0.004) tolerated(0.3) neutral(0.029) HMMPfam_7tm_1,superfamily_SSF81321 MRGPRD 116512 genome.wustl.edu 37 11 68748292 68748292 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198923.2 -1 validated p.R55Q 0.003 72 0% 55 32.7% - - benign(0.295) tolerated(0.3) neutral(0.120) HMMPfam_7tm_1,superfamily_SSF81321 TPCN2 219931 genome.wustl.edu 37 11 68831408 68831408 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000450354 +1 known p.R27W 0.824 200 0% 118 38.1% - - - - - NULL CTTN 2017 genome.wustl.edu 37 11 70260674 70260674 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000415461 +1 known p.R88Q 0.012 295 0% 140 37.1% - - - - - HMMPfam_HS1_rep SHANK2 22941 genome.wustl.edu 37 11 70644609 70644609 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000338508 -1 known p.I573 0.971 111 0% 65 36.9% - - - - - HMMSmart_SH3,superfamily_SH3,HMMPfam_SH3_2 SHANK2 22941 genome.wustl.edu 37 11 70653124 70653124 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000338508 -1 known p.R550H 0.953 79 0% 52 38.5% - - probably_damaging(0.969) deleterious(0.01) deleterious(0.817) HMMSmart_SH3,superfamily_SH3,HMMPfam_SH3_2 DHCR7 1717 genome.wustl.edu 37 11 71148915 71148915 + Silent SNP G G A rs80338858 byCluster TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001360.2 -1 reviewed p.F302 0.979 90 0% 66 18.2% - - - - - HMMPfam_ERG4_ERG24 KRTAP5-9 3846 genome.wustl.edu 37 11 71260065 71260065 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005553.3 +1 validated p.R121H 0.039 319 0% 298 37.6% - - unknown(0) tolerated(0.54) - PatternScan_VWFC_1 IL18BP 10068 genome.wustl.edu 37 11 71711534 71711534 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039659.1 +1 reviewed p.P56S 0.001 206 0% 97 44.3% - - benign(0.011) tolerated(0.19) neutral(0.050) NULL NUMA1 4926 genome.wustl.edu 37 11 71725340 71725340 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006185.2 -1 validated p.R1070H 0.819 57 0% 51 15.7% - - benign(0.001) tolerated(0.22) neutral(0.042) NULL NUMA1 4926 genome.wustl.edu 37 11 71727177 71727177 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006185.2 -1 validated p.E458K 0.991 126 0% 95 28.4% - - probably_damaging(0.973) tolerated(0.06) deleterious(0.738) superfamily_Prefoldin NUMA1 4926 genome.wustl.edu 37 11 71729250 71729250 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006185.2 -1 validated p.E319D 1.000 457 0% 193 13% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL FOLR2 2350 genome.wustl.edu 37 11 71932640 71932640 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000803.4 +1 reviewed p.G201D 1.000 155 0% 102 39.2% - - unknown(0) deleterious(0) - HMMPfam_Folate_rec INPPL1 3636 genome.wustl.edu 37 11 71939285 71939285 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001567.3 +1 reviewed p.F78L 1.000 219 0% 115 44.3% - - benign(0.026) tolerated(0.74) neutral(0.003) HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 PDE2A 5138 genome.wustl.edu 37 11 72292418 72292418 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002599.3 -1 validated p.E676 1.000 187 0% 114 17.5% - - - - - HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like ARAP1 116985 genome.wustl.edu 37 11 72399520 72399520 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040118.2 -1 reviewed p.K1350N 1.000 207 0% 111 15.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like FCHSD2 9873 genome.wustl.edu 37 11 72560908 72560908 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014824.2 -1 validated p.E445D 1.000 394 0% 213 29.1% - - benign(0.001) tolerated(0.61) neutral(0.004) NULL RELT 84957 genome.wustl.edu 37 11 73105540 73105540 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032871.3 +1 reviewed p.P269 0.428 49 0% 41 41.5% - - - - - NULL PLEKHB1 58473 genome.wustl.edu 37 11 73361731 73361731 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021200.2 +1 validated p.K76N 0.995 82 0% 56 26.8% - - possibly_damaging(0.837) deleterious(0) deleterious(0.764) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like UCP2 7351 genome.wustl.edu 37 11 73686069 73686069 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003355.2 -1 reviewed p.R305* 0.997 146 0% 117 28.2% - - - - - NULL UCP2 7351 genome.wustl.edu 37 11 73689372 73689372 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003355.2 -1 reviewed p.L18I 1.000 160 0% 106 36.8% - - benign(0.008) tolerated(0.42) neutral(0.014) superfamily_Mitoch_carrier,HMMPfam_Mito_carr C2CD3 26005 genome.wustl.edu 37 11 73789272 73789272 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015531.4 -1 validated p.A1497 0.960 369 0% 255 31% - - - - - NULL C2CD3 26005 genome.wustl.edu 37 11 73809191 73809191 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015531.4 -1 validated p.R948* 1.000 185 0% 87 40.2% - - - - - NULL P4HA3 283208 genome.wustl.edu 37 11 73996902 73996902 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182904.3 -1 reviewed p.F354 0.991 370 0% 184 37.5% - - - - - HMMSmart_SM00702,superfamily_TPR-like LOC100287896 100287896 genome.wustl.edu 37 11 74208734 74208734 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343118.1 +1 model p.D262Y 0.220 281 0% 139 40.3% - - - - - NULL POLD3 10714 genome.wustl.edu 37 11 74331108 74331108 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006591.1 +1 validated p.S236N 1.000 313 0% 178 34.3% - - benign(0.001) tolerated(0.41) neutral(0.015) HMMPfam_CDC27 RNF169 254225 genome.wustl.edu 37 11 74546684 74546684 + Missense_Mutation SNP G G A rs184782150 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098638.1 +1 validated p.E346K 1.000 257 0% 131 35.1% - - probably_damaging(0.973) deleterious(0.02) deleterious(0.798) NULL XRRA1 143570 genome.wustl.edu 37 11 74632336 74632336 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182969.1 -1 validated p.I185 1.000 161 0% 101 36.6% - - - - - superfamily_L domain-like NEU3 10825 genome.wustl.edu 37 11 74705603 74705603 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006656.5 +1 reviewed p.R48 1.000 251 0% 148 12.2% - - - - - superfamily_Sialidase NEU3 10825 genome.wustl.edu 37 11 74716624 74716624 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006656.5 +1 reviewed p.R158H 1.000 338 0% 190 30.5% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_Sialidase SLCO2B1 11309 genome.wustl.edu 37 11 74913989 74913989 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007256.3 +1 validated p.F603L 1.000 330 0% 146 37% - - possibly_damaging(0.842) deleterious(0.04) deleterious(0.671) HMMPfam_OATP,superfamily_MFS general substrate transporter SLCO2B1 11309 genome.wustl.edu 37 11 74914419 74914419 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007256.3 +1 validated p.S632 0.324 146 0% 129 39.5% - - - - - HMMPfam_OATP,superfamily_MFS general substrate transporter SERPINH1 871 genome.wustl.edu 37 11 75283017 75283017 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001235.2 +1 reviewed p.F382L 1.000 51 0% 45 17.8% - - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN,superfamily_Serpins MAP6 4135 genome.wustl.edu 37 11 75298955 75298955 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033063.1 -1 reviewed p.P531S 0.000 189 0% 142 37.3% - - benign(0.001) tolerated(0.78) neutral(0.001) NULL MOGAT2 80168 genome.wustl.edu 37 11 75428945 75428945 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025098.2 +1 provisional p.F4 0.753 175 0% 117 44.4% - - - - - NULL UVRAG 7405 genome.wustl.edu 37 11 75590944 75590944 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003369.3 +1 reviewed p.D98N 1.000 393 0% 272 36.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_C2 PRKRIR 5612 genome.wustl.edu 37 11 76063218 76063218 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004705.2 -1 provisional p.R326C 1.000 230 0% 86 34.9% - - possibly_damaging(0.525) deleterious(0.02) deleterious(0.560) NULL C11orf30 56946 genome.wustl.edu 37 11 76171128 76171128 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020193.3 +1 validated p.K190N 1.000 297 0% 183 39.9% - - unknown(0) deleterious(0.01) - NULL C11orf30 56946 genome.wustl.edu 37 11 76250645 76250645 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020193.3 +1 validated p.R840C 1.000 370 0% 191 37.2% - - possibly_damaging(0.605) deleterious(0.04) deleterious(0.558) NULL C11orf30 56946 genome.wustl.edu 37 11 76253269 76253269 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020193.3 +1 validated p.R856H 1.000 268 0% 188 38.3% - - unknown(0) deleterious(0) - NULL MYO7A 4647 genome.wustl.edu 37 11 76885863 76885863 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000260.3 +1 reviewed p.R666Q 1.000 139 0% 81 34.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO7A 4647 genome.wustl.edu 37 11 76910588 76910588 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000260.3 +1 reviewed p.R1526H 0.986 42 0% 19 31.6% - - unknown(0) deleterious(0.01) - NULL MYO7A 4647 genome.wustl.edu 37 11 76916625 76916625 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000260.3 +1 reviewed p.A1867T 0.732 44 0% 40 32.5% - - possibly_damaging(0.54) deleterious(0) deleterious(0.627) HMMPfam_MyTH4,HMMSmart_SM00139 GDPD4 220032 genome.wustl.edu 37 11 76954797 76954797 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182833.1 -1 provisional p.K395E 0.000 241 0% 102 20.6% - - benign(0.337) tolerated(0.46) neutral(0.118) HMMPfam_GDPD,superfamily_PLC-like_Pdiesterase_TIM-brl GDPD4 220032 genome.wustl.edu 37 11 76956391 76956391 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182833.1 -1 provisional p.L341I 0.071 659 0% 346 38.7% - - possibly_damaging(0.654) tolerated(0.14) deleterious(0.480) HMMPfam_GDPD,superfamily_PLC-like_Pdiesterase_TIM-brl PAK1 5058 genome.wustl.edu 37 11 77103375 77103375 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128620.1 -1 reviewed e1+1 1.000 228 0% 141 31.9% - - - - - - RSF1 51773 genome.wustl.edu 37 11 77383146 77383146 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016578.3 -1 validated p.R1231Q 1.000 476 0% 212 41% - - probably_damaging(0.974) tolerated(0.19) neutral(0.465) NULL RSF1 51773 genome.wustl.edu 37 11 77412629 77412629 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016578.3 -1 validated p.D549Y 0.177 401 0% 197 36.5% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL KCTD14 65987 genome.wustl.edu 37 11 77728126 77728126 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023930.3 -1 validated p.R94H 1.000 166 0% 132 30.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold NARS2 79731 genome.wustl.edu 37 11 78154789 78154789 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024678.4 -1 validated p.L394F 1.000 193 0% 101 33.7% - - possibly_damaging(0.45) deleterious(0.04) deleterious(0.496) HMMPfam_tRNA-synt_2,superfamily_Class II aaRS and biotin synthetases ODZ4 26011 genome.wustl.edu 37 11 78780876 78780876 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098816.2 -1 validated p.S38 1.000 85 0% 68 33.8% - - - - - HMMPfam_Ten_N PRCP 5547 genome.wustl.edu 37 11 82535993 82535993 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199418.2 -1 reviewed p.K503N 0.893 220 0% 115 20.9% - - benign(0.083) tolerated(0.21) neutral(0.050) NULL C11orf82 220042 genome.wustl.edu 37 11 82643838 82643838 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145018.3 +1 validated p.V486 0.000 60 0% 21 33.3% - - - - - NULL C11orf82 220042 genome.wustl.edu 37 11 82644272 82644272 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145018.3 +1 validated p.L631R 0.845 131 0% 72 40.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ANKRD42 338699 genome.wustl.edu 37 11 82938844 82938844 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182603.2 +1 validated p.K253N 1.000 357 0% 169 34.3% - - probably_damaging(0.997) deleterious(0.04) deleterious(0.815) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat TMEM126B 55863 genome.wustl.edu 37 11 85342831 85342831 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018480.2 +1 provisional p.F31C 0.003 109 0% 45 35.6% - - possibly_damaging(0.851) deleterious(0.01) deleterious(0.733) HMMPfam_DUF1370 TMEM126B 55863 genome.wustl.edu 37 11 85347103 85347103 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018480.2 +1 provisional p.P145S 1.000 228 0% 114 33.3% - - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_DUF1370 TMEM126A 84233 genome.wustl.edu 37 11 85365187 85365187 + Missense_Mutation SNP G G A rs192269199 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032273.3 +1 validated p.R56H 0.967 275 0% 155 36.1% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_DUF1370 TMEM126A 84233 genome.wustl.edu 37 11 85365210 85365210 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032273.3 +1 validated p.R64C 0.825 247 0% 159 39.6% - - benign(0.125) tolerated(0.13) neutral(0.263) HMMPfam_DUF1370 SYTL2 54843 genome.wustl.edu 37 11 85422207 85422207 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_206927.2 -1 reviewed p.P931 0.265 429 0% 211 39.3% - - - - - NULL SYTL2 54843 genome.wustl.edu 37 11 85435969 85435969 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_206927.2 -1 reviewed p.E511K 1.000 257 0% 127 26.8% - - possibly_damaging(0.532) deleterious(0) deleterious(0.625) NULL SYTL2 54843 genome.wustl.edu 37 11 85436612 85436612 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_206927.2 -1 reviewed p.K296N 0.215 309 0% 169 29.6% - - benign(0.378) deleterious(0) deleterious(0.565) NULL CCDC83 220047 genome.wustl.edu 37 11 85593621 85593621 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173556.3 +1 provisional p.E82D 0.002 327 0% 124 41.1% - - benign(0.001) tolerated(0.13) neutral(0.253) NULL EED 8726 genome.wustl.edu 37 11 85961343 85961343 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003797.2 +1 reviewed p.D40 1.000 198 0% 73 27.4% - - - - - NULL CCDC81 60494 genome.wustl.edu 37 11 86120368 86120368 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021827.4 +1 validated p.E303D 1.000 153 0% 57 42.1% - - probably_damaging(0.998) tolerated(0.27) deleterious(0.508) NULL PRSS23 11098 genome.wustl.edu 37 11 86519256 86519256 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007173.4 +1 validated p.R191* 0.893 62 0% 36 41.7% - - - - - superfamily_Trypsin-like serine proteases GRM5 2915 genome.wustl.edu 37 11 88386410 88386410 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143831.2 -1 reviewed p.F358C 1.000 193 0% 133 32.3% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I NOX4 50507 genome.wustl.edu 37 11 89059999 89059999 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016931.3 -1 reviewed p.K554N 1.000 439 0% 196 36.7% - - possibly_damaging(0.719) deleterious(0.03) deleterious(0.625) HMMPfam_NAD_binding_6,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain NOX4 50507 genome.wustl.edu 37 11 89073313 89073313 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016931.3 -1 reviewed p.R455K 1.000 327 0% 137 33.6% - - benign(0.201) tolerated(0.78) neutral(0.020) HMMPfam_NAD_binding_6,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain FOLH1B 219595 genome.wustl.edu 37 11 89424166 89424166 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153696.2 +1 provisional p.R272 1.000 675 0% 362 13% - - - - - superfamily_SSF53187 TRIM77P 390231 genome.wustl.edu 37 11 89450660 89450660 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343107.1 +1 model p.T325A 0.000 338 0% 154 11% - - - - - NULL ENSG00000234376 0 genome.wustl.edu 37 11 89486660 89486660 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000411859 -1 known p.E159* 0.087 303 0% 160 30.6% - - - - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box TRIM49 57093 genome.wustl.edu 37 11 89531777 89531777 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020358.2 -1 reviewed p.E294K 0.014 121 0% 98 18.4% - - benign(0.091) tolerated(0.23) neutral(0.048) NULL TRIM49 57093 genome.wustl.edu 37 11 89537414 89537414 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020358.2 -1 reviewed p.S75Y 0.000 543 0.2% 269 32.7% - - possibly_damaging(0.91) deleterious(0.02) deleterious(0.746) superfamily_SSF57850 UBTFL1 642623 genome.wustl.edu 37 11 89820247 89820247 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143975.1 +1 provisional p.S377N 0.060 940 0% 466 17.6% - - - - - NULL NAALAD2 10003 genome.wustl.edu 37 11 89868837 89868837 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005467.3 +1 reviewed p.R65C 1.000 382 0.3% 180 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NAALAD2 10003 genome.wustl.edu 37 11 89924849 89924849 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005467.3 +1 reviewed p.K719N 1.000 187 0% 111 28.8% - - probably_damaging(0.954) deleterious(0.01) deleterious(0.803) HMMPfam_TFR_dimer,superfamily_Transferrin receptor ectodomain C-terminal domain CHORDC1 26973 genome.wustl.edu 37 11 89947196 89947196 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012124.2 -1 validated p.K107Q 1.000 510 0% 276 36.2% - - benign(0) tolerated(0.72) neutral(0.002) NULL ENSG00000214391 0 genome.wustl.edu 37 11 90016214 90016214 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000318973 +1 known p.G130D 1.000 434 0% 239 43.1% - - - - - HMMPfam_Tubulin,superfamily_Tubulin_FtsZ ENSG00000214391 0 genome.wustl.edu 37 11 90016449 90016449 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000318973 +1 known p.I208 1.000 561 0.2% 301 37.5% - - - - - HMMPfam_Tubulin,superfamily_Tubulin_FtsZ ENSG00000214391 0 genome.wustl.edu 37 11 90016550 90016550 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000318973 +1 known p.R242I 1.000 671 0% 350 34.3% - - - - - HMMPfam_Tubulin,superfamily_Tubulin_FtsZ FAT3 120114 genome.wustl.edu 37 11 92086172 92086172 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008781.2 +1 validated p.I298 0.667 369 0.5% 191 33% - - - - - superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92498152 92498152 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008781.2 +1 validated p.E1364D 1.000 553 0% 271 30.3% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92534060 92534060 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008781.2 +1 validated p.P2627 0.496 220 0% 90 40% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like SLC36A4 120103 genome.wustl.edu 37 11 92899138 92899138 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152313.2 -1 provisional p.K271N 1.000 181 0% 74 32.4% - - benign(0.099) tolerated(0.07) neutral(0.327) HMMPfam_Aa_trans KIAA1731 85459 genome.wustl.edu 37 11 93399951 93399951 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033395.1 +1 validated p.Y26 1.000 325 0% 125 32.8% - - - - - NULL KIAA1731 85459 genome.wustl.edu 37 11 93430468 93430468 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033395.1 +1 validated p.S797Y 0.001 240 0% 98 39.8% - - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL KIAA1731 85459 genome.wustl.edu 37 11 93463219 93463219 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033395.1 +1 validated p.Y2558H 0.376 141 0% 55 29.1% - - possibly_damaging(0.677) deleterious(0) deleterious(0.685) NULL KIAA1731 85459 genome.wustl.edu 37 11 93463415 93463415 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033395.1 +1 validated p.R2596* 1.000 280 0% 129 40.3% - - - - - NULL TAF1D 79101 genome.wustl.edu 37 11 93471365 93471365 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024116.3 -1 validated p.K123N 0.008 340 0% 151 22.5% - - possibly_damaging(0.948) tolerated(0.13) deleterious(0.643) NULL TAF1D 79101 genome.wustl.edu 37 11 93471597 93471597 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000393259 -1 known p.E32* 0.007 224 0% 101 41.6% - - - - - NULL C11orf54 28970 genome.wustl.edu 37 11 93494833 93494833 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014039.2 +1 provisional p.T259 0.937 201 0% 123 17.9% - - - - - NULL HEPHL1 341208 genome.wustl.edu 37 11 93778857 93778857 + Silent SNP C C T rs181178133 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098672.1 +1 validated p.L63 0.253 226 0% 135 38.5% - - - - - superfamily_Cupredoxin HEPHL1 341208 genome.wustl.edu 37 11 93803660 93803660 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098672.1 +1 validated p.P395H 1.000 197 0% 104 29.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cupredoxin HEPHL1 341208 genome.wustl.edu 37 11 93815631 93815631 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098672.1 +1 validated p.E588D 1.000 276 0% 124 41.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cupredoxin HEPHL1 341208 genome.wustl.edu 37 11 93836136 93836136 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098672.1 +1 validated p.D878N 1.000 265 0% 108 25.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Cupredoxin HEPHL1 341208 genome.wustl.edu 37 11 93837764 93837764 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098672.1 +1 validated p.R918I 1.000 435 0% 167 27.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Cupredoxin HEPHL1 341208 genome.wustl.edu 37 11 93844215 93844215 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098672.1 +1 validated p.T1064 0.025 146 0% 107 37.4% - - - - - superfamily_Cupredoxin,HMMPfam_Cu-oxidase_2 FOLR4 390243 genome.wustl.edu 37 11 94040783 94040783 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080486.1 +1 provisional p.F219 0.007 191 0% 166 15.1% - - - - - NULL GPR83 10888 genome.wustl.edu 37 11 94113625 94113625 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016540.3 -1 validated p.R321H 0.862 248 0% 122 40.2% - - benign(0.002) tolerated(0.42) neutral(0.014) HMMPfam_7tm_1,superfamily_SSF81321 FUT4 2526 genome.wustl.edu 37 11 94278546 94278546 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002033.3 +1 reviewed p.S416L 1.000 59 0% 41 36.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_10 PIWIL4 143689 genome.wustl.edu 37 11 94310653 94310653 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152431.2 +1 validated p.E170* 0.967 123 0% 94 27.7% - - - - - superfamily_PAZ domain PIWIL4 143689 genome.wustl.edu 37 11 94326748 94326748 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152431.2 +1 validated p.R364I 0.994 297 0% 142 43% - - benign(0.008) tolerated(0.12) neutral(0.261) HMMPfam_PAZ,superfamily_PAZ domain PIWIL4 143689 genome.wustl.edu 37 11 94335001 94335001 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152431.2 +1 validated p.R474Q 0.986 399 0.3% 199 38.2% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL SESN3 143686 genome.wustl.edu 37 11 94910996 94910996 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144665.2 -1 provisional p.K378 1.000 189 0% 125 28.8% - - - - - HMMPfam_PA26 CEP57 9702 genome.wustl.edu 37 11 95546701 95546701 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014679.3 +1 validated p.R151Q 0.993 290 0% 119 37% - - probably_damaging(0.968) deleterious(0.01) deleterious(0.816) HMMPfam_DUF1167 MAML2 84441 genome.wustl.edu 37 11 95825993 95825993 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032427.1 -1 validated p.S401L 0.998 92 0% 53 39.6% - - unknown(0) deleterious(0.03) - NULL ARHGAP42 143872 genome.wustl.edu 37 11 100830620 100830620 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152432.2 +1 provisional p.L390W 1.000 316 0% 187 40.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_GTPase activation domain GAP PGR 5241 genome.wustl.edu 37 11 100909864 100909864 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000926.4 -1 reviewed p.L929F 1.000 195 0% 97 34% - - possibly_damaging(0.716) deleterious(0.03) deleterious(0.623) superfamily_Nuclear receptor ligand-binding domain TRPC6 7225 genome.wustl.edu 37 11 101375177 101375177 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004621.5 -1 reviewed p.R175W 1.000 169 0% 104 34.6% - - possibly_damaging(0.906) deleterious(0.01) deleterious(0.765) HMMPfam_Ank,superfamily_Ankyrin repeat ANGPTL5 253935 genome.wustl.edu 37 11 101762246 101762246 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178127.4 -1 validated p.R311C 0.254 368 0% 181 38.7% - - possibly_damaging(0.929) deleterious(0.05) deleterious(0.722) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like ANGPTL5 253935 genome.wustl.edu 37 11 101776563 101776563 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178127.4 -1 validated p.S86Y 1.000 267 0% 166 14.5% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL KIAA1377 57562 genome.wustl.edu 37 11 101815008 101815008 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020802.2 +1 validated p.E87D 0.735 318 0% 89 30.3% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL KIAA1377 57562 genome.wustl.edu 37 11 101833416 101833416 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020802.2 +1 validated p.T550 0.000 127 0% 51 29.4% - - - - - NULL KIAA1377 57562 genome.wustl.edu 37 11 101834044 101834044 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020802.2 +1 validated p.P760S 0.339 166 0% 60 33.3% - - benign(0.001) tolerated(0.55) neutral(0.007) NULL KIAA1377 57562 genome.wustl.edu 37 11 101834512 101834512 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020802.2 +1 validated p.E916* 1.000 116 0% 76 42.1% - - - - - NULL BIRC3 330 genome.wustl.edu 37 11 102201974 102201974 + Splice_Site SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001165.3 +1 reviewed e5+2 1.000 245 0% 105 16.2% - - - - - - BIRC2 329 genome.wustl.edu 37 11 102221127 102221127 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001166.3 +1 reviewed p.M181T 1.000 183 0% 96 33.3% - - possibly_damaging(0.804) deleterious(0) deleterious(0.747) superfamily_SSF57924 MMP10 4319 genome.wustl.edu 37 11 102649459 102649459 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002425.2 -1 reviewed p.F173C 1.000 200 0% 94 45.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" MMP3 4314 genome.wustl.edu 37 11 102713242 102713242 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002422.3 -1 reviewed p.V140G 0.928 358 0% 159 37.7% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" MMP12 4321 genome.wustl.edu 37 11 102736603 102736603 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000326227 -1 known p.S370Y 0.029 273 0% 110 14.5% - - - - - superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 DYNC2H1 79659 genome.wustl.edu 37 11 102984337 102984337 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080463.1 +1 reviewed p.E89D 0.976 395 0% 108 60.2% - - benign(0) tolerated(0.65) neutral(0.003) NULL DYNC2H1 79659 genome.wustl.edu 37 11 102995846 102995846 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080463.1 +1 reviewed p.R560Q 0.960 221 0% 119 42% - - benign(0.051) tolerated(0.06) neutral(0.326) HMMPfam_DHC_N1 DYNC2H1 79659 genome.wustl.edu 37 11 103014071 103014071 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080463.1 +1 reviewed p.E883D 1.000 472 0% 173 25.4% - - possibly_damaging(0.823) deleterious(0) deleterious(0.756) NULL DYNC2H1 79659 genome.wustl.edu 37 11 103325995 103325995 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080463.1 +1 reviewed p.L4187I 1.000 331 0% 164 33.5% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Dynein_heavy DDI1 414301 genome.wustl.edu 37 11 103908053 103908053 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001711.2 +1 validated p.A168V 0.999 65 0% 48 16.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC643733 643733 genome.wustl.edu 37 11 104778295 104778295 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_078449.1 -1 model NULL 0.411 59 0% 33 15.2% - - - - - - CASP5 838 genome.wustl.edu 37 11 104879652 104879652 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136112.1 -1 reviewed p.I34 0.000 453 0% 226 25.2% - - - - - NULL CARD16 114769 genome.wustl.edu 37 11 104915168 104915168 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017534.1 -1 validated p.Y75* 0.001 574 0% 306 34.6% - - - - - HMMPfam_CARD,HMMSmart_SM00114,superfamily_DEATH domain CARD18 59082 genome.wustl.edu 37 11 105009768 105009768 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021571.3 -1 validated p.I13S 0.000 343 0% 207 31.4% - - benign(0.015) tolerated(0.55) neutral(0.007) NULL GRIA4 2893 genome.wustl.edu 37 11 105775932 105775932 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000829.3 +1 reviewed p.Q355* 1.000 450 0% 221 32.6% - - - - - HMMPfam_ANF_receptor,superfamily_SSF53822 MSANTD4 84437 genome.wustl.edu 37 11 105880290 105880290 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032424.1 -1 validated p.R337Q 0.991 260 0% 132 37.9% - - benign(0.297) tolerated(0.31) neutral(0.119) NULL AASDHPPT 60496 genome.wustl.edu 37 11 105950307 105950307 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015423.2 +1 reviewed p.S99 0.369 208 0% 91 34.1% - - - - - superfamily_4-PPT_transf AASDHPPT 60496 genome.wustl.edu 37 11 105967543 105967543 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015423.2 +1 reviewed p.S280F 0.981 312 0% 168 32.7% - - probably_damaging(0.976) tolerated(0.33) neutral(0.442) NULL GUCY1A2 2977 genome.wustl.edu 37 11 106810577 106810577 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000855.1 -1 validated p.A272V 0.511 249 0% 197 14.2% - - benign(0) tolerated(0.49) neutral(0.011) HMMPfam_HNOB,superfamily_H-NOX domain CWF19L2 143884 genome.wustl.edu 37 11 107326466 107326466 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152434.2 -1 validated p.E48* 1.000 369 0% 196 15.3% - - - - - NULL ELMOD1 55531 genome.wustl.edu 37 11 107501245 107501245 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018712.3 +1 validated p.I40 1.000 351 0% 153 38.6% - - - - - NULL ELMOD1 55531 genome.wustl.edu 37 11 107506486 107506486 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018712.3 +1 validated p.L139V 0.991 428 0% 216 35.6% - - benign(0.009) tolerated(0.13) neutral(0.253) HMMPfam_ELMO_CED12 SLC35F2 54733 genome.wustl.edu 37 11 107729396 107729396 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017515.4 -1 validated p.K33T 0.513 17 0% 12 33.3% - - benign(0.282) deleterious(0.04) neutral(0.435) HMMPfam_DUF914 NPAT 4863 genome.wustl.edu 37 11 108032369 108032369 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002519.2 -1 validated p.K1148N 1.000 295 0% 136 11.8% - - probably_damaging(0.995) tolerated(0.09) deleterious(0.754) NULL NPAT 4863 genome.wustl.edu 37 11 108032880 108032880 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002519.2 -1 validated p.S1013L 0.959 285 0% 154 40.9% - - benign(0.002) tolerated(0.77) neutral(0.001) NULL ATM 472 genome.wustl.edu 37 11 108121636 108121636 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000051.3 +1 reviewed p.K482Q 1.000 199 0% 120 42.5% - - possibly_damaging(0.69) tolerated(0.15) deleterious(0.488) superfamily_ARM repeat ATM 472 genome.wustl.edu 37 11 108159816 108159816 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000051.3 +1 reviewed p.L1408I 1.000 161 0% 74 16.2% - - probably_damaging(0.971) deleterious(0.02) deleterious(0.796) superfamily_ARM repeat ATM 472 genome.wustl.edu 37 11 108160407 108160407 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000051.3 +1 reviewed p.L1439I 1.000 217 0% 105 38.1% - - benign(0.019) tolerated(0.07) neutral(0.320) superfamily_ARM repeat ATM 472 genome.wustl.edu 37 11 108205756 108205756 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000051.3 +1 reviewed p.R2691C 1.000 307 0% 102 20.6% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat ATM 472 genome.wustl.edu 37 11 108216508 108216508 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000051.3 +1 reviewed p.V2819 0.947 224 0% 108 35.2% - - - - - HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat C11orf65 160140 genome.wustl.edu 37 11 108253854 108253854 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152587.3 -1 validated p.D279G 0.063 325 0% 174 40.2% - - possibly_damaging(0.81) deleterious(0.04) deleterious(0.654) NULL C11orf65 160140 genome.wustl.edu 37 11 108277581 108277581 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152587.3 -1 validated p.S113Y 0.048 327 0% 126 39.7% - - possibly_damaging(0.608) tolerated(0.06) deleterious(0.533) NULL EXPH5 23086 genome.wustl.edu 37 11 108380289 108380289 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015065.2 -1 validated p.E1982G 0.998 295 0% 176 36.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL EXPH5 23086 genome.wustl.edu 37 11 108385140 108385140 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015065.2 -1 validated p.R365I 1.000 283 0% 160 31.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DDX10 1662 genome.wustl.edu 37 11 108549147 108549147 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004398.2 +1 reviewed p.D215N 0.899 112 0% 83 16.9% - - benign(0) tolerated(1) - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases ZC3H12C 85463 genome.wustl.edu 37 11 110007471 110007471 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033390.1 +1 validated p.K35 1.000 152 0% 102 28.4% - - - - - NULL ZC3H12C 85463 genome.wustl.edu 37 11 110030104 110030104 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033390.1 +1 validated p.S346L 1.000 226 0% 101 24.8% - - benign(0.34) tolerated(0.07) neutral(0.426) NULL BTG4 54766 genome.wustl.edu 37 11 111369451 111369451 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017589.2 -1 reviewed p.K17N 0.998 431 0% 154 32.5% - - probably_damaging(0.955) tolerated(0.19) neutral(0.448) HMMPfam_BTG,HMMSmart_btg1 LOC728196 728196 genome.wustl.edu 37 11 111384128 111384128 + RNA SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_040780.2 +1 model NULL 0.000 323 0% 254 42.5% - - - - - - SIK2 23235 genome.wustl.edu 37 11 111571609 111571609 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015191.1 +1 validated e5-1 1.000 199 0% 121 35.5% - - - - - - ALG9 79796 genome.wustl.edu 37 11 111680413 111680413 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024740.2 -1 reviewed p.E563* 1.000 510 0% 222 33.8% - - - - - NULL ALG9 79796 genome.wustl.edu 37 11 111708222 111708222 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024740.2 -1 reviewed p.R481* 1.000 356 0% 171 39.8% - - - - - HMMPfam_Glyco_transf_22 FDXACB1 91893 genome.wustl.edu 37 11 111745880 111745880 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138378.1 -1 validated p.K547N 0.000 266 0% 146 41.8% - - possibly_damaging(0.824) tolerated(0.24) neutral(0.349) HMMPfam_FDX-ACB,superfamily_Anticodon-binding domain of PheRS FDXACB1 91893 genome.wustl.edu 37 11 111746443 111746443 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138378.1 -1 validated p.E360K 0.973 201 0% 112 42% - - benign(0) deleterious(0.04) neutral(0.349) NULL C11orf57 55216 genome.wustl.edu 37 11 111953435 111953435 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001082969.1 +1 validated p.K207N 1.000 194 0% 85 37.6% - - possibly_damaging(0.564) deleterious(0) deleterious(0.637) NULL SDHD 6392 genome.wustl.edu 37 11 111959626 111959626 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000375549 +1 known p.E69K 1.000 218 0% 132 43.2% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_CybS,superfamily_SSF81343 TEX12 56158 genome.wustl.edu 37 11 112040026 112040026 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031275.4 +1 reviewed p.R12I 0.998 486 0% 273 35.5% - - possibly_damaging(0.681) deleterious(0) deleterious(0.688) NULL BCO2 83875 genome.wustl.edu 37 11 112065392 112065392 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031938.4 +1 validated p.F217S 1.000 347 0% 195 30.8% - - probably_damaging(0.969) deleterious(0.01) deleterious(0.817) HMMPfam_RPE65 BCO2 83875 genome.wustl.edu 37 11 112086952 112086952 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031938.4 +1 validated p.E509* 0.924 416 0% 231 37.2% - - - - - HMMPfam_RPE65 PTS 5805 genome.wustl.edu 37 11 112104240 112104240 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000317.2 +1 reviewed p.E134K 1.000 200 0.5% 84 28.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PTPS,superfamily_Tetrahydrobiopterin biosynthesis enzymes-like NCAM1 4684 genome.wustl.edu 37 11 113103450 113103450 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000401611 +1 known p.D351A 1.000 260 0% 96 37.5% - - possibly_damaging(0.827) tolerated(0.75) neutral(0.316) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 TTC12 54970 genome.wustl.edu 37 11 113209545 113209545 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017868.3 +1 validated p.T209I 0.961 295 0% 175 28% - - possibly_damaging(0.832) deleterious(0.01) deleterious(0.723) superfamily_ARM-type_fold ANKK1 255239 genome.wustl.edu 37 11 113264381 113264381 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178510.1 +1 reviewed p.R122C 0.992 142 0% 124 35.5% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_Kinase_like,HMMPfam_Pkinase DRD2 1813 genome.wustl.edu 37 11 113285101 113285101 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000795.3 -1 reviewed p.R269I 1.000 222 0% 126 35.7% - - benign(0.017) deleterious(0.02) neutral(0.384) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZW10 9183 genome.wustl.edu 37 11 113631029 113631029 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004724.2 -1 reviewed p.S161Y 1.000 384 0% 176 26.7% - - probably_damaging(0.972) deleterious(0.01) deleterious(0.820) HMMPfam_Zw10 CLDN25 644672 genome.wustl.edu 37 11 113651032 113651032 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001101389.1 +1 inferred p.A172V 1.000 464 0% 280 35.7% - - possibly_damaging(0.586) deleterious(0.03) deleterious(0.567) HMMPfam_PMP22_Claudin LOC390251 390251 genome.wustl.edu 37 11 113660389 113660389 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_016610.3 +1 model NULL 1.000 75 0% 35 40% - - - - - - USP28 57646 genome.wustl.edu 37 11 113701595 113701595 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020886.2 -1 validated p.R302C 1.000 491 0% 296 39.9% - - possibly_damaging(0.732) tolerated(0.17) neutral(0.327) HMMPfam_UCH,superfamily_Cysteine proteinases HTR3A 3359 genome.wustl.edu 37 11 113860239 113860239 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_213621.3 +1 reviewed p.S429 0.001 90 0% 51 29.4% - - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM ZBTB16 7704 genome.wustl.edu 37 11 114121233 114121233 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001018011.1 +1 reviewed p.D660N 1.000 94 0% 53 37.7% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL RBM7 10179 genome.wustl.edu 37 11 114276434 114276434 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016090.2 +1 provisional p.Y117 1.000 308 0% 164 33.5% - - unknown(0) - - NULL FAM55D 54827 genome.wustl.edu 37 11 114453518 114453518 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077639.1 -1 validated p.R108* 0.050 1424 0.1% 824 34.3% - - - - - NULL APOA4 337 genome.wustl.edu 37 11 116691916 116691916 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000482.3 -1 reviewed p.Q286H 0.997 46 0% 30 56.7% - - benign(0.033) tolerated(0.12) neutral(0.262) HMMPfam_Apolipoprotein,superfamily_Apolipoprotein TAGLN 6876 genome.wustl.edu 37 11 117073783 117073783 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001522.1 +1 reviewed p.I18 0.828 242 0% 129 38.8% - - - - - superfamily_Calponin-homology domain CH-domain PCSK7 9159 genome.wustl.edu 37 11 117077469 117077469 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004716.2 -1 reviewed p.F642 1.000 628 0% 425 17.9% - - - - - NULL RNF214 257160 genome.wustl.edu 37 11 117152324 117152324 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077239.1 +1 validated p.F415L 0.999 181 0% 99 25.3% - - probably_damaging(0.971) deleterious(0.01) deleterious(0.819) NULL CEP164 22897 genome.wustl.edu 37 11 117232698 117232698 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014956.4 +1 validated p.E181* 0.518 360 0% 186 34.4% - - - - - NULL DSCAML1 57453 genome.wustl.edu 37 11 117375696 117375696 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020693.2 -1 provisional p.L769F 1.000 163 0% 116 35.3% - - possibly_damaging(0.917) deleterious(0.01) deleterious(0.774) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin DSCAML1 57453 genome.wustl.edu 37 11 117647526 117647526 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020693.2 -1 provisional p.D224G 1.000 220 0% 126 38.1% - - probably_damaging(0.961) tolerated(0.11) deleterious(0.675) HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin DSCAML1 57453 genome.wustl.edu 37 11 117651359 117651359 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020693.2 -1 provisional p.P131 0.529 152 0% 115 47% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin TMPRSS13 84000 genome.wustl.edu 37 11 117789227 117789227 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077263.1 -1 validated p.P116 0.001 262 0% 194 30.4% - - - - - NULL TMPRSS4 56649 genome.wustl.edu 37 11 117978571 117978571 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019894.3 +1 reviewed p.R175C 0.972 180 0% 99 36.4% - - possibly_damaging(0.946) deleterious(0.03) deleterious(0.754) HMMSmart_SM00202,superfamily_SRCR-like TMPRSS4 56649 genome.wustl.edu 37 11 117982510 117982510 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019894.3 +1 reviewed p.V213A 0.955 170 0% 130 32.3% - - benign(0.123) tolerated(0.71) neutral(0.011) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases TMPRSS4 56649 genome.wustl.edu 37 11 117985629 117985629 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019894.3 +1 reviewed p.T332 0.007 142 0.7% 83 13.3% - - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases SCN4B 6330 genome.wustl.edu 37 11 118011963 118011963 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_174934.3 -1 reviewed p.K184N 1.000 141 0% 90 38.9% - - probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL ENSG00000244817 0 genome.wustl.edu 37 11 118185007 118185007 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000501549 -1 known NULL 0.011 22 0% 13 30.8% - - - - - - UBE4A 9354 genome.wustl.edu 37 11 118235810 118235810 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004788.2 +1 reviewed p.E5 1.000 383 0% 177 39% - - - - - NULL MLL 4297 genome.wustl.edu 37 11 118359367 118359367 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005933.2 +1 validated p.K1457N 1.000 423 0% 209 34.4% - - probably_damaging(0.992) - - HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD MLL 4297 genome.wustl.edu 37 11 118392633 118392633 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005933.2 +1 validated p.R3886* 1.000 176 0% 102 41.2% - - - - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain ARCN1 372 genome.wustl.edu 37 11 118463513 118463513 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001655.4 +1 reviewed p.D358 0.930 193 0% 107 42.1% - - - - - HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor ARCN1 372 genome.wustl.edu 37 11 118468455 118468455 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001655.4 +1 reviewed p.I425 0.860 254 0% 173 15.6% - - - - - HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor HYOU1 10525 genome.wustl.edu 37 11 118918663 118918663 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130991.1 -1 reviewed p.L836F 1.000 167 0% 139 13.7% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain VPS11 55823 genome.wustl.edu 37 11 118948349 118948349 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000300793 +1 known p.D521Y 1.000 225 0% 135 30.4% - - - - - superfamily_ARM repeat NLRX1 79671 genome.wustl.edu 37 11 119044206 119044206 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024618.2 +1 reviewed p.R83H 0.982 47 2.1% 31 35.5% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NLRX1 79671 genome.wustl.edu 37 11 119050974 119050974 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024618.2 +1 reviewed p.V748 1.000 15 0% 15 40% - - - - - HMMSmart_SM00368,superfamily_RNI-like CBL 867 genome.wustl.edu 37 11 119169186 119169186 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005188.2 +1 reviewed p.L790 0.602 304 0% 157 45.2% - - - - - NULL MFRP 83552 genome.wustl.edu 37 11 119215346 119215346 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031433.2 -1 reviewed p.F298L 0.018 176 0% 82 37.8% - - possibly_damaging(0.649) tolerated(0.43) neutral(0.242) superfamily_LDL receptor-like module POU2F3 25833 genome.wustl.edu 37 11 120175859 120175859 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014352.2 +1 validated p.E189K 1.000 242 0% 106 35.8% - - probably_damaging(0.998) tolerated(0.11) deleterious(0.746) HMMPfam_Pou,HMMSmart_SM00352,superfamily_lambda repressor-like DNA-binding domains ARHGEF12 23365 genome.wustl.edu 37 11 120280116 120280116 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015313.1 +1 reviewed p.K52N 1.000 504 0% 290 36.9% - - probably_damaging(0.96) deleterious(0) deleterious(0.848) NULL ARHGEF12 23365 genome.wustl.edu 37 11 120292551 120292551 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015313.1 +1 reviewed p.R113Q 1.000 234 0% 95 35.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like ARHGEF12 23365 genome.wustl.edu 37 11 120308038 120308038 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015313.1 +1 reviewed p.E316* 1.000 313 0% 141 21.3% - - - - - NULL ARHGEF12 23365 genome.wustl.edu 37 11 120319008 120319008 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015313.1 +1 reviewed p.R563Q 1.000 343 0.3% 182 37.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GRIK4 2900 genome.wustl.edu 37 11 120852859 120852859 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014619.2 +1 reviewed p.C814R 1.000 973 0% 364 32.4% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Lig_chan TECTA 7007 genome.wustl.edu 37 11 120983834 120983834 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005422.2 +1 reviewed p.L180 1.000 172 0% 117 25.6% - - - - - HMMPfam_NIDO,HMMSmart_SM00539 TECTA 7007 genome.wustl.edu 37 11 121028872 121028872 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005422.2 +1 reviewed p.S1543L 0.998 142 0% 81 35.8% - - probably_damaging(0.99) tolerated(0.08) deleterious(0.742) HMMPfam_VWD,HMMSmart_SM00216 TECTA 7007 genome.wustl.edu 37 11 121030897 121030897 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005422.2 +1 reviewed p.I1581 1.000 200 0% 145 33.8% - - - - - HMMPfam_VWD,HMMSmart_SM00216 SC5DL 6309 genome.wustl.edu 37 11 121175082 121175082 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001024956.2 +1 reviewed p.R75* 0.735 348 0.3% 163 27.6% - - - - - NULL SORL1 6653 genome.wustl.edu 37 11 121340814 121340814 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003105.4 +1 reviewed p.A128 0.207 171 0% 92 33.7% - - - - - HMMSmart_SM00602,superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase MIRLET7A2 406882 genome.wustl.edu 37 11 122017261 122017261 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000362105 -1 known NULL 1.000 354 0% 313 33.5% - - - - - - UBASH3B 84959 genome.wustl.edu 37 11 122526785 122526785 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032873.4 +1 validated p.L10F 0.952 12 0% 17 58.8% - - unknown(0) - - NULL UBASH3B 84959 genome.wustl.edu 37 11 122653843 122653843 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032873.4 +1 validated p.E228D 1.000 540 0% 296 36.8% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL HSPA8 3312 genome.wustl.edu 37 11 122929844 122929844 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006597.3 -1 reviewed p.R416C 1.000 433 0% 289 37.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HSP70,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain HSPA8 3312 genome.wustl.edu 37 11 122930653 122930653 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006597.3 -1 reviewed p.I216 1.000 125 0% 86 31.4% - - - - - HMMPfam_HSP70,superfamily_Actin-like ATPase domain GRAMD1B 57476 genome.wustl.edu 37 11 123455031 123455031 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020716.1 +1 validated p.S82 0.998 511 0.2% 246 34.1% - - - - - NULL ZNF202 7753 genome.wustl.edu 37 11 123600386 123600386 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003455.2 -1 validated p.L184M 0.981 255 0% 137 32.1% - - probably_damaging(0.998) tolerated(0.13) deleterious(0.727) NULL OR6X1 390260 genome.wustl.edu 37 11 123624366 123624366 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005188.1 -1 provisional p.I287M 1.000 213 0% 98 12.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR6T1 219874 genome.wustl.edu 37 11 123814015 123814015 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005187.1 -1 provisional p.F177L 0.972 109 0% 63 38.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR6T1 219874 genome.wustl.edu 37 11 123814409 123814409 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005187.1 -1 provisional p.I46S 0.226 139 0% 64 34.4% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_7tm_1,superfamily_SSF81321 OR10G7 390265 genome.wustl.edu 37 11 123908967 123908967 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004463.1 -1 provisional p.L248I 0.046 599 0% 326 31.3% - - possibly_damaging(0.894) tolerated(0.47) neutral(0.363) HMMPfam_7tm_1,superfamily_SSF81321 OR10G7 390265 genome.wustl.edu 37 11 123909003 123909003 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004463.1 -1 provisional p.A236T 1.000 553 0% 383 36.8% - - benign(0.17) deleterious(0) neutral(0.460) HMMPfam_7tm_1,superfamily_SSF81321 OR10G7 390265 genome.wustl.edu 37 11 123909484 123909484 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004463.1 -1 provisional p.T75 0.046 622 0% 410 29.8% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR8B8 26493 genome.wustl.edu 37 11 124310774 124310774 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012378.1 -1 provisional p.D70Y 0.999 503 0% 198 13.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8A1 390275 genome.wustl.edu 37 11 124440055 124440055 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005194.1 +1 provisional p.L31I 0.901 221 0% 156 34% - - probably_damaging(0.985) deleterious(0.01) deleterious(0.838) superfamily_SSF81321 OR8A1 390275 genome.wustl.edu 37 11 124440142 124440142 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005194.1 +1 provisional p.L60M 0.987 360 0% 209 12% - - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_7tm_1,superfamily_SSF81321 PANX3 116337 genome.wustl.edu 37 11 124489663 124489663 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052959.2 +1 reviewed p.I337 1.000 415 0% 247 37.2% - - - - - NULL SIAE 54414 genome.wustl.edu 37 11 124530643 124530643 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_170601.3 -1 validated p.E96K 0.342 221 0% 133 36.1% - - benign(0) tolerated(0.74) neutral(0.002) NULL VSIG2 23584 genome.wustl.edu 37 11 124618541 124618541 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014312.3 -1 provisional p.T235 0.993 253 0.4% 156 40.4% - - - - - HMMSmart_SM00409,superfamily_Immunoglobulin MSANTD2 79684 genome.wustl.edu 37 11 124669869 124669869 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024631.2 -1 validated p.F136 1.000 5 0.000 6 0.667 - - - - - NULL ROBO3 64221 genome.wustl.edu 37 11 124741022 124741022 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022370.3 +1 reviewed p.K382N 1.000 62 0% 36 52.8% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin FEZ1 9638 genome.wustl.edu 37 11 125359510 125359510 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005103.3 -1 reviewed p.S55I 1.000 205 0% 125 44% - - possibly_damaging(0.887) deleterious(0) deleterious(0.791) NULL EI24 9538 genome.wustl.edu 37 11 125448106 125448106 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000343678 +1 known p.L132F 1.000 726 0% 482 13.9% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_EI24 STT3A 3703 genome.wustl.edu 37 11 125475547 125475547 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152713.3 +1 validated p.L178F 0.993 470 0% 193 18.7% - - benign(0.001) tolerated(1) - HMMPfam_STT3 PUS3 83480 genome.wustl.edu 37 11 125765682 125765682 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031307.3 -1 validated p.V127 0.998 98 0% 49 40.8% - - - - - HMMPfam_PseudoU_synth_1,superfamily_PsdUridine_synth_cat_dom DDX25 29118 genome.wustl.edu 37 11 125781357 125781357 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013264.3 +1 reviewed p.F258L 0.997 350 0% 193 35.8% - - benign(0.008) tolerated(1) - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases CDON 50937 genome.wustl.edu 37 11 125867195 125867195 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016952.4 -1 validated p.E757K 1.000 176 0% 86 40.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SRPR 6734 genome.wustl.edu 37 11 126134929 126134929 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003139.3 -1 reviewed p.R484C 1.000 146 0% 90 32.2% - - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) HMMPfam_SRP54,HMMSmart_AAA,superfamily_SSF52540 KIRREL3 84623 genome.wustl.edu 37 11 126294583 126294583 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032531.3 -1 reviewed p.F743 1.000 411 0% 234 32.1% - - - - - NULL FLI1 2313 genome.wustl.edu 37 11 128680646 128680646 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002017.3 +1 validated p.T374 0.072 323 0% 194 35.6% - - - - - "superfamily_""Winged helix"" DNA-binding domain" FLI1 2313 genome.wustl.edu 37 11 128680760 128680760 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002017.3 +1 validated p.S412 0.999 486 0% 233 34.3% - - - - - "superfamily_""Winged helix"" DNA-binding domain" FLI1 2313 genome.wustl.edu 37 11 128680769 128680769 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002017.3 +1 validated p.F415L 1.000 457 0% 235 36.6% - - benign(0) tolerated(0.5) neutral(0.010) "superfamily_""Winged helix"" DNA-binding domain" KCNJ5 3762 genome.wustl.edu 37 11 128781607 128781607 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000890.3 +1 reviewed p.E147K 1.000 208 0% 174 31% - - probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_IRK,superfamily_SSF81324 PRDM10 56980 genome.wustl.edu 37 11 129780380 129780380 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020228.2 -1 reviewed p.R1056C 1.000 57 0% 54 31.5% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL ST14 6768 genome.wustl.edu 37 11 130058071 130058071 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021978.3 +1 reviewed p.E48D 1.000 208 0% 134 33.6% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL ST14 6768 genome.wustl.edu 37 11 130058082 130058082 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021978.3 +1 reviewed p.P52L 0.918 198 0% 133 29.3% - - benign(0.092) tolerated(0.08) neutral(0.307) NULL ST14 6768 genome.wustl.edu 37 11 130058478 130058478 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021978.3 +1 reviewed p.E99* 0.759 132 0% 80 22.5% - - - - - HMMPfam_SEA,superfamily_SSF82671 ZBTB44 29068 genome.wustl.edu 37 11 130106794 130106794 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000397753 -1 known p.E488K 1.000 64 0% 49 38.8% - - probably_damaging(0.978) tolerated(0.33) neutral(0.445) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZBTB44 29068 genome.wustl.edu 37 11 130108442 130108442 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014155.4 -1 validated p.E388D 0.993 285 0% 145 33.1% - - benign(0.273) deleterious(0.04) neutral(0.378) NULL ADAMTS15 170689 genome.wustl.edu 37 11 130331510 130331510 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139055.2 +1 reviewed p.E362K 1.000 96 0% 64 34.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Reprolysin,PatternScan_ZINC_PROTEASE,superfamily_SSF55486 ADAMTS15 170689 genome.wustl.edu 37 11 130332438 130332438 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139055.2 +1 reviewed p.E435D 0.973 19 0% 20 20% - - benign(0) tolerated(0.62) neutral(0.004) NULL ADAMTS15 170689 genome.wustl.edu 37 11 130343673 130343673 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139055.2 +1 reviewed p.R937H 1.000 27 0% 19 57.9% - - benign(0.013) deleterious(0.02) neutral(0.384) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 SNX19 399979 genome.wustl.edu 37 11 130749589 130749589 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014758.2 -1 validated p.L926I 1.000 360 0% 214 37.4% - - probably_damaging(0.996) tolerated(0.51) deleterious(0.471) HMMPfam_Nexin_C IGSF9B 22997 genome.wustl.edu 37 11 133806052 133806052 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014987.1 -1 validated p.T239 0.583 153 0% 75 10.7% - - - - - HMMSmart_FN3,HMMPfam_I-set,superfamily_SSF48726 GLB1L3 112937 genome.wustl.edu 37 11 134177019 134177019 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080407.2 +1 validated p.R293I 0.000 926 0.2% 399 36.6% - - benign(0.055) tolerated(0.2) neutral(0.053) HMMPfam_Glyco_hydro_35,superfamily_(Trans)glycosidases LOC100288881 100288881 genome.wustl.edu 37 12 176414 176414 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343144.1 +1 model p.E122 0.000 38 0% 33 18.2% - - - - - NULL LOC100288881 100288881 genome.wustl.edu 37 12 176596 176596 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343144.1 +1 model p.R183K 1.000 127 0% 62 12.9% - - benign(0.094) tolerated(0.14) neutral(0.257) NULL IQSEC3 440073 genome.wustl.edu 37 12 247456 247456 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015232.1 +1 validated p.Y6 1.000 130 0.8% 70 37.1% - - - - - NULL SLC6A13 6540 genome.wustl.edu 37 12 369199 369199 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016615.2 -1 provisional p.G7D 0.018 208 0% 174 36.2% - - possibly_damaging(0.811) deleterious(0.03) deleterious(0.670) NULL WNK1 65125 genome.wustl.edu 37 12 863407 863407 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018979.3 +1 reviewed p.E226* 1.000 47 0% 32 21.9% - - - - - superfamily_Kinase_like,HMMPfam_Pkinase ERC1 23085 genome.wustl.edu 37 12 1137630 1137630 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178040.2 +1 reviewed p.K187 1.000 207 0% 116 33.6% - - - - - HMMPfam_Cast ERC1 23085 genome.wustl.edu 37 12 1292513 1292513 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178040.2 +1 reviewed p.R695W 0.317 225 0% 112 40.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cast LRTM2 654429 genome.wustl.edu 37 12 1943542 1943542 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039029.2 +1 validated p.E256D 0.970 19 0% 13 38.5% - - possibly_damaging(0.857) tolerated(0.06) deleterious(0.653) superfamily_L domain-like CACNA1C 775 genome.wustl.edu 37 12 2566851 2566851 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199460.2 +1 reviewed p.R246W 1.000 115 0% 57 14% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1C 775 genome.wustl.edu 37 12 2702483 2702483 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199460.2 +1 reviewed p.A879T 1.000 368 0% 176 40.3% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL CACNA1C 775 genome.wustl.edu 37 12 2786930 2786930 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199460.2 +1 reviewed p.P1711H 1.000 69 0% 61 36.1% - - possibly_damaging(0.437) deleterious(0) deleterious(0.587) NULL CACNA1C 775 genome.wustl.edu 37 12 2788732 2788732 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199460.2 +1 reviewed p.G1786 0.819 245 0.8% 122 41.8% - - - - - NULL CACNA1C 775 genome.wustl.edu 37 12 2789548 2789548 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000399634 +1 known p.L1822M 0.021 51 0% 40 25% - - possibly_damaging(0.892) tolerated(0.22) neutral(0.393) NULL ITFG2 55846 genome.wustl.edu 37 12 2929370 2929370 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018463.3 +1 validated p.K175N 1.000 252 0% 178 40.4% - - probably_damaging(0.996) tolerated(0.24) deleterious(0.499) NULL EFCAB4B 84766 genome.wustl.edu 37 12 3753787 3753787 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144958.1 -1 validated p.R380W 0.692 348 0% 237 35.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CCND2 894 genome.wustl.edu 37 12 4398036 4398036 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001759.3 +1 validated p.S200 0.724 182 0% 111 39.6% - - - - - HMMPfam_Cyclin_C,superfamily_Cyclin-like C12orf5 57103 genome.wustl.edu 37 12 4459007 4459007 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020375.2 +1 reviewed p.R72I 0.985 279 0% 144 34.7% - - benign(0.001) deleterious(0.05) neutral(0.345) HMMPfam_PGAM,superfamily_SSF53254 FGF23 8074 genome.wustl.edu 37 12 4479868 4479868 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020638.2 -1 reviewed p.H133N 0.988 48 0% 18 33.3% - - benign(0) tolerated(0.48) neutral(0.011) HMMSmart_FGF,superfamily_Cytok_IL1_like C12orf4 57102 genome.wustl.edu 37 12 4634532 4634532 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020374.2 -1 predicted p.N206H 1.000 434 0% 239 39.3% - - possibly_damaging(0.903) tolerated(0.07) deleterious(0.677) HMMPfam_DUF2362 DYRK4 8798 genome.wustl.edu 37 12 4702224 4702224 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003845.1 +1 provisional p.G59S 1.000 176 0% 97 36.1% - - benign(0.206) tolerated(0.42) neutral(0.034) NULL AKAP3 10566 genome.wustl.edu 37 12 4737437 4737437 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006422.2 -1 reviewed p.N211H 0.001 277 0% 157 35.7% - - probably_damaging(0.958) tolerated(0.08) deleterious(0.702) HMMPfam_AKAP_110,HMMSmart_SM00807 KCNA6 3742 genome.wustl.edu 37 12 4919439 4919439 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002235.3 +1 reviewed p.D78N 1.000 61 0% 58 32.8% - - probably_damaging(0.988) tolerated(0.13) deleterious(0.690) HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold KCNA6 3742 genome.wustl.edu 37 12 4919731 4919731 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002235.3 +1 reviewed p.G175D 1.000 70 0% 70 37.1% - - possibly_damaging(0.904) tolerated(0.05) deleterious(0.704) superfamily_SSF81324 LOC390282 390282 genome.wustl.edu 37 12 5142021 5142021 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_372447.5 -1 model p.I25 0.996 54 0% 39 30.8% - - - - - NULL KCNA5 3741 genome.wustl.edu 37 12 5153915 5153915 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002234.2 +1 reviewed p.R201H 1.000 75 0% 48 22.9% - - probably_damaging(0.994) deleterious(0.04) deleterious(0.801) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain ANO2 57101 genome.wustl.edu 37 12 5722072 5722072 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020373.2 -1 validated p.E661* 1.000 191 0% 155 31.6% - - - - - NULL VWF 7450 genome.wustl.edu 37 12 6128779 6128779 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000552.3 -1 reviewed p.D1269N 0.003 72 0% 40 27.5% - - benign(0.003) tolerated(0.44) neutral(0.013) NULL VWF 7450 genome.wustl.edu 37 12 6145582 6145582 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000552.3 -1 reviewed p.E840* 0.997 175 0% 114 21.9% - - - - - HMMSmart_SM00214,HMMSmart_SM00215,superfamily_PMP inhibitors CD9 928 genome.wustl.edu 37 12 6344610 6344610 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000382519 +1 known p.F188L 0.000 493 0% 267 36.3% - - - - - NULL LTBR 4055 genome.wustl.edu 37 12 6495234 6495234 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002342.1 +1 reviewed p.E159* 0.001 80 0% 61 36.1% - - - - - HMMSmart_TNFR TAPBPL 55080 genome.wustl.edu 37 12 6566689 6566689 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018009.4 +1 validated p.R228Q 1.000 176 0.6% 130 27.7% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CHD4 1108 genome.wustl.edu 37 12 6701219 6701219 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001273.2 -1 reviewed p.Y985H 1.000 355 0% 188 39.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF2_N CHD4 1108 genome.wustl.edu 37 12 6703726 6703726 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001273.2 -1 reviewed p.R738C 1.000 383 0% 194 39.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases CHD4 1108 genome.wustl.edu 37 12 6703798 6703798 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001273.2 -1 reviewed p.R714* 1.000 246 0.4% 141 40.4% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CHD4 1108 genome.wustl.edu 37 12 6711664 6711664 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001273.2 -1 reviewed e2-1 0.996 499 0% 312 38.8% - - - - - - GNB3 2784 genome.wustl.edu 37 12 6952674 6952674 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002075.2 +1 reviewed p.L139F 1.000 219 0% 149 40.3% - - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 C1R 715 genome.wustl.edu 37 12 7242795 7242795 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000290575 -1 known p.S108Y 0.941 165 0.6% 99 39.4% - - possibly_damaging(0.621) deleterious(0) deleterious(0.661) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain C1R 715 genome.wustl.edu 37 12 7242812 7242812 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000290575 -1 known p.F102L 1.000 135 0% 90 41.1% - - benign(0.073) tolerated(0.17) neutral(0.064) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain PEX5 5830 genome.wustl.edu 37 12 7362769 7362769 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001131023.1 +1 reviewed p.D639N 1.000 104 0% 70 44.3% - - possibly_damaging(0.534) deleterious(0.01) deleterious(0.586) superfamily_SSF48452 ACSM4 341392 genome.wustl.edu 37 12 7457078 7457078 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080454.1 +1 provisional p.N51H 0.998 284 0% 169 34.3% - - benign(0.011) tolerated(0.49) neutral(0.011) superfamily_SSF56801 ACSM4 341392 genome.wustl.edu 37 12 7479678 7479678 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080454.1 +1 provisional p.K548T 1.000 248 0% 110 33.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF56801 CD163 9332 genome.wustl.edu 37 12 7636131 7636131 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004244.4 -1 validated p.P974S 0.008 195 0% 124 44.4% - - benign(0) tolerated(1) - HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like CD163 9332 genome.wustl.edu 37 12 7639099 7639099 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004244.4 -1 validated p.C818* 1.000 119 0% 88 37.5% - - - - - HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like CD163 9332 genome.wustl.edu 37 12 7651698 7651698 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004244.4 -1 validated p.T182A 0.999 282 0% 139 30.9% - - probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like APOBEC1 339 genome.wustl.edu 37 12 7803713 7803713 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001644.3 -1 reviewed p.F156S 1.000 190 0% 119 31.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_APOBEC_C,superfamily_Cytidine_deaminase-like APOBEC1 339 genome.wustl.edu 37 12 7805085 7805085 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001644.3 -1 reviewed p.L131I 0.991 88 0% 47 29.8% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_APOBEC_C,superfamily_Cytidine_deaminase-like GDF3 9573 genome.wustl.edu 37 12 7848139 7848139 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020634.1 -1 reviewed p.A62 0.000 118 0% 48 12.5% - - - - - NULL FOXJ2 55810 genome.wustl.edu 37 12 8205425 8205425 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018416.2 +1 validated p.F568 1.000 126 0% 84 41.7% - - - - - NULL CLEC4A 50856 genome.wustl.edu 37 12 8281864 8281864 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016184.3 +1 reviewed p.F68L 0.335 215 0% 99 32.3% - - benign(0.02) tolerated(0.64) neutral(0.004) NULL FAM90A1 55138 genome.wustl.edu 37 12 8375299 8375299 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018088.3 -1 validated p.E172K 0.000 24 0% 32 43.8% - - benign(0) tolerated(0.45) neutral(0.012) NULL A2ML1 144568 genome.wustl.edu 37 12 8994115 8994115 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144670.3 +1 validated p.T411A 0.006 304 0% 169 34.3% - - benign(0) tolerated(0.31) neutral(0.027) NULL PHC1 1911 genome.wustl.edu 37 12 9089904 9089904 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004426.2 +1 reviewed p.I870M 1.000 75 0% 44 31.8% - - unknown(0) deleterious(0.02) - NULL A2M 2 genome.wustl.edu 37 12 9260186 9260186 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000014.4 -1 reviewed p.K271N 0.136 213 0% 132 32.6% - - benign(0.014) tolerated(0.14) neutral(0.250) NULL A2M 2 genome.wustl.edu 37 12 9264763 9264763 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000014.4 -1 reviewed p.N159Y 0.231 215 0% 103 30.1% - - probably_damaging(0.974) deleterious(0.01) deleterious(0.822) HMMPfam_A2M_N PZP 5858 genome.wustl.edu 37 12 9309927 9309927 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002864.2 -1 validated p.F1132L 0.763 222 0% 113 35.4% - - benign(0.024) tolerated(0.25) neutral(0.038) superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp PZP 5858 genome.wustl.edu 37 12 9321503 9321503 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002864.2 -1 validated p.S690Y 0.000 324 0% 157 33.8% - - possibly_damaging(0.912) deleterious(0.04) deleterious(0.712) NULL DDX11L8 100302090 genome.wustl.edu 37 12 9447436 9447436 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000341155 +1 known p.E168D 0.018 263 0% 202 21.8% - - - - - HMMSmart_SM00488,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX11L8 100302090 genome.wustl.edu 37 12 9455295 9455295 + Missense_Mutation SNP G G C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000341155 +1 known p.G458R 1.000 219 0% 123 38.2% - - - - - NULL DDX12P 440081 genome.wustl.edu 37 12 9578131 9578131 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000432996 -1 known p.I566 0.841 175 0% 114 28.1% - - - - - NULL CLEC1B 51266 genome.wustl.edu 37 12 10149347 10149347 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000398939 -1 known p.S55Y 0.000 39 0% 27 22.2% - - possibly_damaging(0.46) tolerated(0.13) neutral(0.403) HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold CLEC1B 51266 genome.wustl.edu 37 12 10149355 10149355 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000398939 -1 known p.F52L 0.003 45 0% 34 32.4% - - benign(0.059) tolerated(0.2) neutral(0.053) HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold CLEC12B 387837 genome.wustl.edu 37 12 10167334 10167334 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001129998.1 +1 validated p.T135A 0.171 171 0% 110 19.1% - - benign(0.003) tolerated(0.52) neutral(0.009) NULL CLEC9A 283420 genome.wustl.edu 37 12 10205299 10205299 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207345.2 +1 provisional p.E5* 0.710 275 0% 145 33.1% - - - - - NULL CLEC9A 283420 genome.wustl.edu 37 12 10217366 10217366 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207345.2 +1 provisional p.G169 0.000 455 0% 219 35.6% - - - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like OLR1 4973 genome.wustl.edu 37 12 10319347 10319347 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002543.3 -1 reviewed p.L130F 0.998 616 0% 301 32.6% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL KLRC4 8302 genome.wustl.edu 37 12 10560375 10560375 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013431.2 -1 reviewed p.G118 0.000 423 0% 196 38.8% - - - - - NULL ENSG00000180574 0 genome.wustl.edu 37 12 10658725 10658725 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000322446 +1 known p.R75I 1.000 249 0% 161 37.9% - - possibly_damaging(0.934) deleterious(0) deleterious(0.825) HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases TAS2R7 50837 genome.wustl.edu 37 12 10954545 10954545 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023919.2 -1 reviewed p.R209W 0.797 483 0% 275 15.3% - - benign(0) tolerated(1) - HMMPfam_TAS2R,superfamily_SSF81321 TAS2R8 50836 genome.wustl.edu 37 12 10958828 10958828 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023918.1 -1 reviewed p.S251Y 0.000 156 0% 76 39.5% - - benign(0.002) tolerated(0.37) neutral(0.019) HMMPfam_TAS2R,superfamily_SSF81321 TAS2R10 50839 genome.wustl.edu 37 12 10978314 10978314 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023921.1 -1 reviewed p.F185L 0.000 64 0% 37 43.2% - - benign(0) tolerated(1) - HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like TAS2R20 259295 genome.wustl.edu 37 12 11149732 11149732 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_176889.2 -1 validated p.S248L 0.000 494 0% 205 33.7% - - benign(0.353) deleterious(0.03) deleterious(0.476) HMMPfam_TAS2R,superfamily_SSF81321 TAS2R42 353164 genome.wustl.edu 37 12 11338745 11338745 + Nonsense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181429.1 -1 provisional p.K267* 0.000 172 0% 92 47.8% - - - - - HMMPfam_TAS2R,superfamily_SSF81321 TAS2R42 353164 genome.wustl.edu 37 12 11339297 11339297 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181429.1 -1 provisional p.K83Q 0.040 354 0% 181 29.3% - - benign(0.005) tolerated(0.16) neutral(0.059) HMMPfam_TAS2R,superfamily_SSF81321 PRB3 5544 genome.wustl.edu 37 12 11420414 11420414 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000381842 -1 known p.S215P 0.008 296 0% 128 28.1% - - unknown(0) tolerated(0.32) - NULL PRB3 5544 genome.wustl.edu 37 12 11420540 11420540 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000279573 -1 known p.S215P 0.000 302 0.3% 130 10.8% - - unknown(0) tolerated(0.23) - NULL LRP6 4040 genome.wustl.edu 37 12 12311897 12311897 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002336.2 -1 reviewed p.R886Q 1.000 232 0% 133 40.6% - - probably_damaging(0.999) tolerated(0.13) deleterious(0.743) superfamily_YWTD domain LRP6 4040 genome.wustl.edu 37 12 12397550 12397550 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002336.2 -1 reviewed p.R32Q 1.000 310 0% 191 24.1% - - probably_damaging(1) tolerated(0.18) deleterious(0.556) superfamily_YWTD domain MANSC1 54682 genome.wustl.edu 37 12 12496240 12496240 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018050.2 -1 validated p.F3 0.000 159 0% 118 17.8% - - - - - NULL GPR19 2842 genome.wustl.edu 37 12 12814356 12814356 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006143.2 -1 validated p.E343K 1.000 449 0% 293 31.7% - - probably_damaging(0.996) deleterious(0.05) deleterious(0.807) superfamily_Family A G protein-coupled receptor-like CDKN1B 1027 genome.wustl.edu 37 12 12870903 12870903 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004064.3 +1 reviewed p.D44N 1.000 140 0% 68 25% - - possibly_damaging(0.951) deleterious(0) deleterious(0.839) HMMPfam_CDI APOLD1 81575 genome.wustl.edu 37 12 12940355 12940355 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130415.1 +1 validated p.F203L 1.000 99 0% 86 32.6% - - possibly_damaging(0.636) tolerated(0.47) neutral(0.234) NULL GPRC5A 9052 genome.wustl.edu 37 12 13061780 13061780 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003979.3 +1 reviewed p.F199 0.999 530 0% 392 41.1% - - - - - HMMPfam_7tm_3 HEBP1 50865 genome.wustl.edu 37 12 13140127 13140127 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015987.3 -1 reviewed p.S119 0.730 360 0% 195 30.3% - - - - - HMMPfam_SOUL ENSG00000183935 0 genome.wustl.edu 37 12 13154964 13154964 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000331998 +1 known p.I472 1.000 26 0% 22 22.7% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000183935 0 genome.wustl.edu 37 12 13155150 13155150 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000331998 +1 known p.T534 1.000 49 0% 19 42.1% - - - - - HMMPfam_7tm_1 KIAA1467 57613 genome.wustl.edu 37 12 13215874 13215874 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020853.1 +1 validated p.R273* 0.012 714 0% 338 25.4% - - - - - NULL KIAA1467 57613 genome.wustl.edu 37 12 13219603 13219603 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020853.1 +1 validated p.G294 1.000 483 0% 293 27% - - - - - NULL GRIN2B 2904 genome.wustl.edu 37 12 13715790 13715790 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000834.3 -1 reviewed p.N1461S 1.000 315 0% 111 32.4% - - benign(0) tolerated(0.51) neutral(0.009) HMMPfam_NMDAR2_C GRIN2B 2904 genome.wustl.edu 37 12 13906832 13906832 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000834.3 -1 reviewed p.F143L 1.000 110 0% 62 35.5% - - probably_damaging(0.994) tolerated(0.23) deleterious(0.493) superfamily_SSF53822 GRIN2B 2904 genome.wustl.edu 37 12 14019050 14019050 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000834.3 -1 reviewed p.S31 0.994 90 0% 74 37.8% - - - - - superfamily_SSF53822 ATF7IP 55729 genome.wustl.edu 37 12 14576875 14576875 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018179.3 +1 validated p.K9T 1.000 117 0% 43 14% - - unknown(0) deleterious(0) - NULL ATF7IP 55729 genome.wustl.edu 37 12 14613981 14613981 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018179.3 +1 validated p.R904Q 0.999 134 0% 88 47.7% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL GUCY2C 2984 genome.wustl.edu 37 12 14769569 14769569 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004963.3 -1 validated p.K990Q 1.000 401 0% 217 40.1% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Guanylate_cyc,superfamily_Adenylyl and guanylyl cyclase catalytic domain WBP11 51729 genome.wustl.edu 37 12 14943500 14943500 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016312.2 -1 reviewed p.S400Y 1.000 578 0% 306 14.7% - - unknown(0) deleterious(0.01) - NULL WBP11 51729 genome.wustl.edu 37 12 14947569 14947569 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016312.2 -1 reviewed p.P208L 1.000 117 0% 47 31.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ART4 420 genome.wustl.edu 37 12 14994061 14994061 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021071.2 -1 reviewed p.F57 1.000 105 0% 57 45.6% - - - - - HMMPfam_ART,superfamily_ADP-ribosylation PTPRO 5800 genome.wustl.edu 37 12 15637132 15637132 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030667.1 +1 reviewed p.V100 0.986 213 0.5% 151 11.9% - - - - - superfamily_Fibronectin type III EPS8 2059 genome.wustl.edu 37 12 15784375 15784375 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004447.5 -1 reviewed e17+1 1.000 292 0% 172 29.1% - - - - - - DERA 51071 genome.wustl.edu 37 12 16109955 16109955 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015954.2 +1 validated p.K39N 0.985 186 0% 91 41.8% - - possibly_damaging(0.555) deleterious(0.01) deleterious(0.595) superfamily_SSF51569 DERA 51071 genome.wustl.edu 37 12 16135316 16135316 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015954.2 +1 validated p.E195* 1.000 471 0% 281 32.7% - - - - - HMMPfam_DeoC,superfamily_SSF51569 DERA 51071 genome.wustl.edu 37 12 16185653 16185653 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000437671 +1 known p.S184N 0.994 85 0% 51 33.3% - - - - - NULL MGST1 4257 genome.wustl.edu 37 12 16510603 16510603 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020300.3 +1 reviewed p.R64Q 0.954 311 0% 119 42% - - benign(0.021) tolerated(0.16) neutral(0.060) HMMPfam_MAPEG RERGL 79785 genome.wustl.edu 37 12 18234364 18234364 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024730.2 -1 provisional p.L127I 1.000 251 0% 132 24.2% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) superfamily_SSF52540 RERGL 79785 genome.wustl.edu 37 12 18242180 18242180 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024730.2 -1 provisional p.S13F 0.038 225 0% 132 30.3% - - probably_damaging(0.964) deleterious(0) deleterious(0.851) NULL PLCZ1 89869 genome.wustl.edu 37 12 18836253 18836253 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033123.2 -1 provisional p.R583C 1.000 226 0% 80 33.8% - - possibly_damaging(0.851) tolerated(0.1) deleterious(0.613) HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PDE3A 5139 genome.wustl.edu 37 12 20803505 20803505 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000921.3 +1 validated p.D966Y 1.000 320 0% 190 30.5% - - benign(0) tolerated(0.05) neutral(0.345) HMMPfam_PDEase_I,superfamily_SSF109604 PDE3A 5139 genome.wustl.edu 37 12 20833078 20833078 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000921.3 +1 validated p.E1100G 0.407 190 0% 76 31.6% - - probably_damaging(0.991) tolerated(0.17) deleterious(0.503) NULL SLCO1B3 28234 genome.wustl.edu 37 12 21011428 21011428 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019844.2 +1 validated p.P94 0.870 855 0% 381 34.4% - - - - - HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter SLCO1B3 28234 genome.wustl.edu 37 12 21028196 21028196 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019844.2 +1 validated p.S252F 0.969 934 0% 386 33.4% - - possibly_damaging(0.824) deleterious(0.04) deleterious(0.661) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter RECQL 5965 genome.wustl.edu 37 12 21643313 21643313 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002907.3 -1 reviewed e3-1 1.000 126 0% 91 33% - - - - - - GYS2 2998 genome.wustl.edu 37 12 21713419 21713419 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021957.3 -1 reviewed p.K357T 0.977 321 0% 159 42.1% - - benign(0.26) tolerated(0.09) neutral(0.324) HMMPfam_Glycogen_syn CMAS 55907 genome.wustl.edu 37 12 22199422 22199422 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018686.3 +1 reviewed p.N62S 1.000 43 0% 29 34.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CTP_transf_3,superfamily_Nucleotide-diphospho-sugar transferases KIAA0528 9847 genome.wustl.edu 37 12 22676481 22676481 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014802.1 -1 predicted p.D227N 1.000 211 0% 153 30.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SOX5 6660 genome.wustl.edu 37 12 23728616 23728616 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006940.4 -1 reviewed p.S441P 1.000 529 0% 243 42% - - benign(0) tolerated(0.21) neutral(0.044) NULL BCAT1 586 genome.wustl.edu 37 12 24989525 24989525 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005504.6 -1 reviewed p.E275* 1.000 218 0% 98 40.8% - - - - - HMMPfam_Aminotran_4,superfamily_Aminotrans_IV,PatternScan_AA_TRANSFER_CLASS_4 CASC1 55259 genome.wustl.edu 37 12 25307254 25307254 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018272.3 -1 validated p.N146T 0.019 428 0% 237 45.1% - - benign(0.068) tolerated(0.15) neutral(0.245) NULL LYRM5 144363 genome.wustl.edu 37 12 25357215 25357215 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001660.2 +1 validated p.R81H 1.000 61 0% 38 31.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL IFLTD1 160492 genome.wustl.edu 37 12 25679104 25679104 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145728.1 -1 validated p.L243I 1.000 276 0% 141 31.2% - - possibly_damaging(0.811) tolerated(0.19) neutral(0.355) HMMPfam_IF_tail,superfamily_Lamin A/C globular tail domain SSPN 8082 genome.wustl.edu 37 12 26383985 26383985 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005086.4 +1 reviewed p.S236 0.001 163 0% 66 42.4% - - - - - NULL ASUN 55726 genome.wustl.edu 37 12 27067449 27067449 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018164.2 -1 validated p.I437 0.997 356 0% 171 38.6% - - - - - HMMPfam_DUF2151 FGFR1OP2 26127 genome.wustl.edu 37 12 27110533 27110533 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015633.2 +1 validated e3-1 1.000 162 1.2% 73 47.9% - - - - - - C12orf70 341346 genome.wustl.edu 37 12 27627804 27627804 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145010.1 +1 validated p.A107V 0.000 248 0% 129 45.7% - - benign(0.355) tolerated(0.34) neutral(0.136) NULL C12orf70 341346 genome.wustl.edu 37 12 27628626 27628626 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145010.1 +1 validated p.I158 0.156 125 0% 48 12.5% - - - - - NULL MRPS35 60488 genome.wustl.edu 37 12 27908273 27908273 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021821.2 +1 reviewed p.E288* 1.000 110 0% 39 35.9% - - - - - NULL FAR2 55711 genome.wustl.edu 37 12 29474805 29474805 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018099.3 +1 provisional p.S402I 1.000 277 0% 146 32.9% - - benign(0.221) tolerated(0.24) neutral(0.059) HMMPfam_Sterile OVCH1 341350 genome.wustl.edu 37 12 29597100 29597100 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_183378.2 -1 validated p.N999H 0.001 197 0% 153 36.6% - - benign(0.003) tolerated(0.1) neutral(0.286) superfamily_Spermadhesin CUB domain OVCH1 341350 genome.wustl.edu 37 12 29614804 29614804 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_183378.2 -1 validated p.E755* 0.010 244 0% 164 31.7% - - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases OVCH1 341350 genome.wustl.edu 37 12 29648326 29648326 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_183378.2 -1 validated p.E116K 0.202 347 0% 192 34.4% - - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases TMTC1 83857 genome.wustl.edu 37 12 29920950 29920950 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175861.2 -1 provisional p.L13V 0.002 213 0% 88 38.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL IPO8 10526 genome.wustl.edu 37 12 30819186 30819186 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006390.2 -1 reviewed e11-1 1.000 173 0% 84 13.1% - - - - - - CAPRIN2 65981 genome.wustl.edu 37 12 30862866 30862866 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001002259.1 -1 validated p.T1118 0.014 160 0% 97 34% - - - - - HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like CAPRIN2 65981 genome.wustl.edu 37 12 30863357 30863357 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001002259.1 -1 validated p.E955K 0.996 100 0% 55 41.8% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL DDX11 1663 genome.wustl.edu 37 12 31249577 31249577 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152438.1 +1 reviewed p.G510* 1.000 344 0% 233 32.2% - - - - - NULL AMN1 196394 genome.wustl.edu 37 12 31882040 31882040 + RNA SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_004854.1 -1 validated NULL 0.001 16 0% 12 33.3% - - - - - - H3F3C 440093 genome.wustl.edu 37 12 31944947 31944947 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013699.2 -1 validated p.R52C 1.000 135 0% 131 32.8% - - probably_damaging(1) - - HMMSmart_H3,superfamily_Histone-fold BICD1 636 genome.wustl.edu 37 12 32369267 32369267 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001714.2 +1 reviewed p.S100 0.000 238 0% 156 34.6% - - - - - HMMPfam_BicD BICD1 636 genome.wustl.edu 37 12 32458911 32458911 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001714.2 +1 reviewed p.G287V 1.000 237 0% 121 38.8% - - benign(0.333) deleterious(0.04) neutral(0.453) HMMPfam_BicD ALG10B 144245 genome.wustl.edu 37 12 38714532 38714532 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013620.3 +1 validated p.K313N 0.000 637 0% 275 29.5% - - benign(0.012) tolerated(0.47) neutral(0.011) HMMPfam_DIE2_ALG10 C12orf40 283461 genome.wustl.edu 37 12 40041724 40041724 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031748.2 +1 validated p.S172Y 0.001 232 0% 141 34.8% - - benign(0.029) - - NULL SLC2A13 114134 genome.wustl.edu 37 12 40158368 40158368 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052885.3 -1 validated p.L538 0.986 247 0% 121 42.1% - - - - - HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter LRRK2 120892 genome.wustl.edu 37 12 40631800 40631800 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198578.3 +1 reviewed p.E156* 1.000 248 0% 112 31.2% - - - - - superfamily_ARM-type_fold LRRK2 120892 genome.wustl.edu 37 12 40631804 40631804 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198578.3 +1 reviewed p.S157I 0.547 256 0% 116 33.6% - - benign(0.086) tolerated(0.14) neutral(0.256) superfamily_ARM-type_fold LRRK2 120892 genome.wustl.edu 37 12 40643716 40643716 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198578.3 +1 reviewed p.Q309H 0.176 203 0% 97 39.2% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_ARM-type_fold LRRK2 120892 genome.wustl.edu 37 12 40677790 40677790 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198578.3 +1 reviewed p.Q785 0.152 335 0% 144 33.3% - - - - - NULL LRRK2 120892 genome.wustl.edu 37 12 40704416 40704416 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198578.3 +1 reviewed p.R1501W 1.000 286 0% 148 35.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 LRRK2 120892 genome.wustl.edu 37 12 40716969 40716969 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198578.3 +1 reviewed p.L1839 0.390 173 0% 72 40.3% - - - - - NULL PDZRN4 29951 genome.wustl.edu 37 12 41961623 41961623 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013377.3 +1 validated p.F244L 1.000 180 0% 79 31.6% - - benign(0) tolerated(0.27) neutral(0.034) NULL PDZRN4 29951 genome.wustl.edu 37 12 41966788 41966788 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013377.3 +1 validated p.S478Y 1.000 131 0% 60 41.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PDZRN4 29951 genome.wustl.edu 37 12 41966998 41966998 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013377.3 +1 validated p.S548I 0.028 230 0% 91 11% - - benign(0.001) tolerated(0.16) neutral(0.059) NULL ADAMTS20 80070 genome.wustl.edu 37 12 43771354 43771354 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025003.3 -1 validated p.N1603K 0.995 273 0% 175 26.9% - - benign(0.001) tolerated(0.2) neutral(0.049) superfamily_TSP-1 type 1 repeat ADAMTS20 80070 genome.wustl.edu 37 12 43819315 43819315 + Splice_Site SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025003.3 -1 validated e28+2 1.000 257 0% 181 37% - - - - - - ADAMTS20 80070 genome.wustl.edu 37 12 43822567 43822567 + Silent SNP G G C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025003.3 -1 validated p.R1175 0.931 169 0% 70 35.7% - - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat IRAK4 51135 genome.wustl.edu 37 12 44176249 44176249 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001114182.2 +1 reviewed p.R361C 0.843 210 0% 102 31.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TMEM117 84216 genome.wustl.edu 37 12 44781912 44781912 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032256.1 +1 provisional p.I334 0.570 179 0.6% 85 24.7% - - - - - NULL DBX2 440097 genome.wustl.edu 37 12 45444588 45444588 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004329.2 -1 validated p.E41D 1.000 5 0.000 7 0.571 - - benign(0.245) deleterious(0.01) neutral(0.431) NULL PLEKHA8P1 51054 genome.wustl.edu 37 12 45567149 45567149 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015899.1 -1 provisional p.R334* 1.000 251 0% 159 36.5% - - - - - HMMPfam_GLTP,superfamily_Glycolipid_transfer_prot PLEKHA8P1 51054 genome.wustl.edu 37 12 45568001 45568001 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015899.1 -1 provisional p.L50V 1.000 538 0% 285 37.2% - - - - - NULL ANO6 196527 genome.wustl.edu 37 12 45796955 45796955 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142679.1 +1 validated p.F571L 1.000 377 0% 170 33.5% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SCAF11 9169 genome.wustl.edu 37 12 46325298 46325298 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004719.2 -1 validated p.E278K 1.000 113 0% 43 34.9% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL SCAF11 9169 genome.wustl.edu 37 12 46327011 46327011 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004719.2 -1 validated p.E213* 1.000 190 0% 135 40.7% - - - - - NULL SLC38A2 54407 genome.wustl.edu 37 12 46760898 46760898 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018976.4 -1 validated p.L148F 1.000 306 0% 183 33.3% - - benign(0.002) tolerated(0.16) neutral(0.059) HMMPfam_Aa_trans SLC38A4 55089 genome.wustl.edu 37 12 47163108 47163108 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143824.1 -1 validated p.V468A 1.000 230 0% 116 29.3% - - possibly_damaging(0.935) tolerated(0.26) neutral(0.414) HMMPfam_Aa_trans SLC38A4 55089 genome.wustl.edu 37 12 47178414 47178414 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143824.1 -1 validated p.S135Y 1.000 204 0% 126 37.3% - - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMPfam_Aa_trans RPAP3 79657 genome.wustl.edu 37 12 48082961 48082961 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024604.2 -1 reviewed p.E229K 1.000 416 0% 150 34.7% - - benign(0.171) tolerated(0.47) neutral(0.026) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like RAPGEF3 10411 genome.wustl.edu 37 12 48141909 48141909 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098531.2 -1 validated p.T424S 1.000 254 0% 145 11.7% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_RasGEF_N,HMMSmart_SM00229,superfamily_Ras GEF HDAC7 51564 genome.wustl.edu 37 12 48183607 48183607 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015401.3 -1 reviewed p.R694C 0.996 152 0% 88 12.5% - - probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_Hist_deacetyl,superfamily_SSF52768 COL2A1 1280 genome.wustl.edu 37 12 48383034 48383034 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001844.4 -1 reviewed p.F367V 1.000 260 0% 117 33.3% - - unknown(0) deleterious(0.04) - HMMPfam_Collagen PFKM 5213 genome.wustl.edu 37 12 48536608 48536608 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000289.5 +1 reviewed p.R566Q 0.990 270 0% 139 23.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PFK,superfamily_Phosphofructokinase KANSL2 54934 genome.wustl.edu 37 12 49048753 49048753 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017822.3 -1 validated p.E440* 1.000 422 0% 144 36.1% - - - - - NULL ADCY6 112 genome.wustl.edu 37 12 49170270 49170270 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015270.3 -1 reviewed p.F492 0.958 52 0% 46 26.1% - - - - - HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,PatternScan_GUANYLATE_CYCLASE_1 ADCY6 112 genome.wustl.edu 37 12 49171425 49171425 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015270.3 -1 reviewed p.I370T 1.000 789 0% 482 36.3% - - probably_damaging(0.996) tolerated(0.08) deleterious(0.762) HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain DDX23 9416 genome.wustl.edu 37 12 49224335 49224335 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004818.2 -1 reviewed p.E794K 1.000 335 0% 182 14.3% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL DDX23 9416 genome.wustl.edu 37 12 49227275 49227275 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004818.2 -1 reviewed p.I530L 1.000 191 0% 111 34.2% - - benign(0.005) tolerated(0.61) neutral(0.004) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases MLL2 8085 genome.wustl.edu 37 12 49432095 49432095 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003482.3 -1 validated p.G3015D 1.000 425 0% 245 41.2% - - unknown(0) - - NULL MLL2 8085 genome.wustl.edu 37 12 49433373 49433373 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003482.3 -1 validated p.R2692W 1.000 62 0% 39 23.1% - - unknown(0) - - NULL MLL2 8085 genome.wustl.edu 37 12 49438225 49438225 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003482.3 -1 validated p.E1682K 0.996 301 0% 172 38.4% - - unknown(0) - - NULL MLL2 8085 genome.wustl.edu 37 12 49444093 49444093 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003482.3 -1 validated p.P1093L 0.996 149 0% 102 25.5% - - unknown(0) - - NULL MLL2 8085 genome.wustl.edu 37 12 49449074 49449074 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003482.3 -1 validated p.D12Y 1.000 165 0% 114 36% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DHH 50846 genome.wustl.edu 37 12 49485129 49485129 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021044.2 -1 reviewed p.N116S 1.000 104 0% 87 42.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HH_signal,superfamily_Hedgehog_sig_N TUBA1C 84790 genome.wustl.edu 37 12 49663751 49663751 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032704.3 +1 provisional p.R123C 1.000 387 0.3% 221 35.7% - - probably_damaging(0.961) - - HMMPfam_Tubulin,superfamily_Tubulin_FtsZ SPATS2 65244 genome.wustl.edu 37 12 49883290 49883290 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023071.3 +1 validated p.E50* 1.000 372 0% 166 23.5% - - - - - NULL LOC100131403 100131403 genome.wustl.edu 37 12 50348042 50348042 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001718330.1 -1 model p.L26F 0.996 89 0% 54 29.6% - - - - - NULL RACGAP1 29127 genome.wustl.edu 37 12 50384112 50384112 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001126103.1 -1 validated p.S613N 1.000 207 0% 103 35% - - possibly_damaging(0.638) deleterious(0.02) deleterious(0.607) NULL RACGAP1 29127 genome.wustl.edu 37 12 50399149 50399149 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001126103.1 -1 validated p.E105D 1.000 281 0% 179 31.8% - - benign(0.004) tolerated(0.46) neutral(0.012) NULL GPD1 2819 genome.wustl.edu 37 12 50498378 50498378 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005276.2 +1 provisional p.I21 0.930 103 0% 57 33.3% - - unknown(0) - - HMMPfam_NAD_Gly3P_dh_N,superfamily_NAD(P)-bd MIR1293 100302220 genome.wustl.edu 37 12 50627987 50627987 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000408677 -1 known NULL 0.697 14 0% 13 61.5% - - - - - - FAM186A 121006 genome.wustl.edu 37 12 50724472 50724472 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145475.1 -1 provisional p.E2306D 0.999 252 0% 127 36.2% - - probably_damaging(0.998) tolerated(0.14) deleterious(0.724) NULL LARP4 113251 genome.wustl.edu 37 12 50860808 50860808 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199188.2 +1 validated p.F490V 1.000 379 0% 237 40.5% - - benign(0.009) deleterious(0.03) neutral(0.365) NULL ATF1 466 genome.wustl.edu 37 12 51207802 51207802 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005171.3 +1 validated p.A113V 1.000 131 0% 85 12.9% - - possibly_damaging(0.903) tolerated(0.51) neutral(0.367) NULL TMPRSS12 283471 genome.wustl.edu 37 12 51237779 51237779 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182559.2 +1 validated p.E114D 0.012 160 0% 96 33.3% - - benign(0.002) tolerated(0.65) neutral(0.003) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases CSRNP2 81566 genome.wustl.edu 37 12 51457919 51457919 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030809.1 -1 provisional p.S414 0.994 185 0% 100 26% - - - - - NULL BIN2 51411 genome.wustl.edu 37 12 51685725 51685725 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016293.2 -1 validated p.L389I 0.992 245 0% 126 40.5% - - possibly_damaging(0.942) tolerated(0.18) neutral(0.443) NULL SCN8A 6334 genome.wustl.edu 37 12 52096657 52096657 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014191.2 +1 reviewed p.R365C 1.000 361 0% 171 36.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN8A 6334 genome.wustl.edu 37 12 52156455 52156455 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014191.2 +1 reviewed p.R847 1.000 247 0% 119 31.1% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels GRASP 160622 genome.wustl.edu 37 12 52407689 52407689 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181711.2 +1 provisional p.R193W 0.994 260 0% 148 41.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PDZ domain-like NR4A1 3164 genome.wustl.edu 37 12 52452704 52452704 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002135.3 +1 reviewed p.I591 1.000 163 0% 100 37% - - - - - HMMPfam_Hormone_recep,superfamily_Nuclear receptor ligand-binding domain KRT7 3855 genome.wustl.edu 37 12 52635421 52635421 + Splice_Site SNP G G A rs112832797 byCluster TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005556.3 +1 reviewed e5+1 1.000 174 0% 83 34.9% - - - - - - KRT85 3891 genome.wustl.edu 37 12 52756073 52756073 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002283.3 -1 reviewed p.I420 1.000 182 0% 111 29.7% - - - - - HMMPfam_Filament,PatternScan_IF KRT85 3891 genome.wustl.edu 37 12 52756744 52756744 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002283.3 -1 reviewed p.T324M 0.996 300 0% 213 32.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Filament KRT85 3891 genome.wustl.edu 37 12 52761037 52761037 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002283.3 -1 reviewed p.F51 0.178 64 0% 71 21.1% - - - - - NULL KRT84 3890 genome.wustl.edu 37 12 52773690 52773690 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033045.3 -1 reviewed p.L476F 1.000 338 0% 150 34.7% - - possibly_damaging(0.583) deleterious(0.03) deleterious(0.565) NULL KRT5 3852 genome.wustl.edu 37 12 52909583 52909583 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000424.3 -1 reviewed p.I491 1.000 458 0.2% 234 29.9% - - - - - NULL KRT71 112802 genome.wustl.edu 37 12 52940108 52940108 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033448.2 -1 reviewed p.I429 0.997 143 0% 92 35.9% - - - - - HMMPfam_Filament,PatternScan_IF KRT2 3849 genome.wustl.edu 37 12 53041603 53041603 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000423.2 -1 reviewed p.D387N 0.870 149 0% 108 32.4% - - probably_damaging(1) tolerated(0.2) deleterious(0.549) HMMPfam_Filament KRT1 3848 genome.wustl.edu 37 12 53070211 53070211 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006121.3 -1 reviewed p.K441N 0.940 212 0% 167 31.7% - - possibly_damaging(0.937) tolerated(0.06) deleterious(0.706) superfamily_Prefoldin,HMMPfam_Filament KRT1 3848 genome.wustl.edu 37 12 53072477 53072477 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006121.3 -1 reviewed p.D219Y 0.027 170 0% 104 31.7% - - probably_damaging(0.983) deleterious(0.01) deleterious(0.835) HMMPfam_Filament KRT77 374454 genome.wustl.edu 37 12 53086543 53086543 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175078.2 -1 reviewed p.K401T 1.000 289 0% 213 44.6% - - probably_damaging(0.998) tolerated(0.11) deleterious(0.746) HMMPfam_Filament KRT76 51350 genome.wustl.edu 37 12 53167369 53167369 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015848.4 -1 reviewed p.K291N 1.000 269 0% 146 26% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Filament KRT4 3851 genome.wustl.edu 37 12 53207694 53207694 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002272.2 -1 reviewed p.R124K 0.997 106 0% 74 32.4% - - - - - NULL KRT79 338785 genome.wustl.edu 37 12 53223837 53223837 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175834.2 -1 reviewed p.E275D 1.000 228 0% 174 36.8% - - possibly_damaging(0.823) tolerated(0.09) deleterious(0.608) superfamily_Prefoldin,HMMPfam_Filament EIF4B 1975 genome.wustl.edu 37 12 53421850 53421850 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001417.4 +1 validated p.R286H 1.000 343 0% 199 37.2% - - unknown(0) deleterious(0.03) - NULL SP7 121340 genome.wustl.edu 37 12 53722254 53722254 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152860.1 -1 provisional p.F324 0.999 59 0% 64 15.6% - - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SP1 6667 genome.wustl.edu 37 12 53776146 53776146 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138473.2 +1 validated p.N139H 1.000 107 0% 96 35.4% - - possibly_damaging(0.652) tolerated(0.27) neutral(0.263) NULL SP1 6667 genome.wustl.edu 37 12 53776175 53776175 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138473.2 +1 validated p.V148 0.998 92 0% 89 34.8% - - - - - NULL TARBP2 6895 genome.wustl.edu 37 12 53898976 53898976 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_134323.1 +1 reviewed p.R224Q 0.998 109 0% 105 43.8% - - possibly_damaging(0.597) tolerated(0.12) neutral(0.467) HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like NPFF 8620 genome.wustl.edu 37 12 53900606 53900606 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003717.2 -1 reviewed p.S99F 0.811 135 0% 91 30.8% - - probably_damaging(0.961) tolerated(0.09) deleterious(0.701) NULL HOXC10 3226 genome.wustl.edu 37 12 54379403 54379403 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017409.3 +1 reviewed p.A120 0.997 37 0% 42 28.6% - - - - - NULL HOXC10 3226 genome.wustl.edu 37 12 54379553 54379553 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017409.3 +1 reviewed p.F170 0.999 41 0% 34 35.3% - - - - - NULL HOXC8 3224 genome.wustl.edu 37 12 54403332 54403332 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022658.3 +1 reviewed p.F88L 1.000 59 0% 48 35.4% - - probably_damaging(0.975) tolerated(0.1) deleterious(0.704) NULL HOXC4 3221 genome.wustl.edu 37 12 54448973 54448973 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014620.4 +1 reviewed p.D260G 1.000 20 0.000 9 0.667 - - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL ZNF385A 25946 genome.wustl.edu 37 12 54765316 54765316 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130967.1 -1 validated p.Y202C 1.000 102 0% 70 41.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00451,HMMSmart_SM00355 ITGA5 3678 genome.wustl.edu 37 12 54797093 54797093 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002205.2 -1 reviewed p.R598* 1.000 331 0% 198 38.4% - - - - - HMMPfam_Integrin_alpha2,superfamily_SSF69179 NCKAP1L 3071 genome.wustl.edu 37 12 54902172 54902172 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005337.4 +1 reviewed e5-1 1.000 335 0% 225 34.7% - - - - - - NCKAP1L 3071 genome.wustl.edu 37 12 54910034 54910034 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005337.4 +1 reviewed p.R318K 1.000 517 0% 282 32.3% - - benign(0.03) tolerated(0.08) neutral(0.301) HMMPfam_Nckap1 MUCL1 118430 genome.wustl.edu 37 12 55248901 55248901 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_058173.2 +1 validated p.Q20 0.110 303 0% 193 33.7% - - - - - NULL OR6C74 254783 genome.wustl.edu 37 12 55642003 55642003 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005490.1 +1 provisional p.M311T 0.000 22 0% 11 54.5% - - benign(0.001) tolerated(0.47) neutral(0.011) NULL OR6C6 283365 genome.wustl.edu 37 12 55688777 55688777 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005493.1 -1 provisional p.L80F 0.010 133 0% 69 31.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR6C76 390326 genome.wustl.edu 37 12 55820229 55820229 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005183.1 +1 provisional p.F64L 0.190 378 0% 199 29.6% - - probably_damaging(0.991) tolerated(0.4) neutral(0.460) HMMPfam_7tm_1,superfamily_SSF81321 OR6C2 341416 genome.wustl.edu 37 12 55846214 55846214 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_054105.1 +1 provisional p.T73A 0.139 180 0% 119 34.5% - - benign(0.039) deleterious(0.02) neutral(0.385) HMMPfam_7tm_1,superfamily_SSF81321 OR6C70 390327 genome.wustl.edu 37 12 55863598 55863598 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005499.1 -1 provisional p.E109* 0.515 150 0% 67 31.3% - - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR6C68 403284 genome.wustl.edu 37 12 55886659 55886659 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005519.1 +1 provisional p.F171L 0.992 350 0% 241 34.4% - - benign(0.402) deleterious(0) deleterious(0.574) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2AP1 121129 genome.wustl.edu 37 12 55968838 55968838 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000321688 +1 known p.L214F 0.000 29 0% 26 53.8% - - benign(0.008) tolerated(0.23) neutral(0.042) HMMPfam_7tm_1,superfamily_SSF81321 METTL7B 196410 genome.wustl.edu 37 12 56077672 56077672 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152637.2 +1 validated p.E192K 0.797 195 0% 135 11.9% - - benign(0.221) tolerated(0.14) neutral(0.272) superfamily_SSF53335 ITGA7 3679 genome.wustl.edu 37 12 56082082 56082082 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144996.1 -1 reviewed p.E991D 0.994 253 0% 164 34.1% - - benign(0.152) tolerated(0.89) neutral(0.013) superfamily_Integrin domains GDF11 10220 genome.wustl.edu 37 12 56142696 56142696 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005811.3 +1 reviewed p.E258K 1.000 40 0% 36 30.6% - - benign(0.005) tolerated(0.07) neutral(0.319) NULL DNAJC14 85406 genome.wustl.edu 37 12 56217237 56217237 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032364.5 -1 validated p.R488Q 1.000 298 0% 155 26.5% - - probably_damaging(0.998) tolerated(0.99) deleterious(0.474) HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain PMEL 6490 genome.wustl.edu 37 12 56352291 56352291 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006928.3 -1 validated p.Q145H 0.986 93 0% 67 23.9% - - unknown(0) deleterious(0.01) - NULL IKZF4 64375 genome.wustl.edu 37 12 56429071 56429071 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022465.3 +1 validated p.E572K 1.000 143 0% 101 33.7% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00355 ERBB3 2065 genome.wustl.edu 37 12 56487629 56487629 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001982.2 +1 reviewed p.R521Q 1.000 112 0% 74 31.1% - - probably_damaging(0.991) tolerated(0.15) deleterious(0.685) HMMPfam_Furin-like,HMMSmart_SM00261,superfamily_Growth factor receptor domain SLC39A5 283375 genome.wustl.edu 37 12 56625278 56625278 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135195.1 +1 validated p.R74C 0.865 71 0% 61 47.5% - - probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL CS 1431 genome.wustl.edu 37 12 56669802 56669802 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004077.2 -1 reviewed p.R256C 1.000 243 0.4% 220 38.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Citrate_synt,superfamily_Citrate_synthase_core PAN2 9924 genome.wustl.edu 37 12 56719148 56719148 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127460.2 -1 reviewed p.L484I 1.000 217 0% 119 36.1% - - benign(0) tolerated(0.39) neutral(0.016) NULL APOF 319 genome.wustl.edu 37 12 56755608 56755608 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001638.2 -1 reviewed p.R128* 0.975 221 0% 167 43.7% - - - - - NULL TIMELESS 8914 genome.wustl.edu 37 12 56817453 56817453 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003920.3 -1 validated p.E669* 1.000 239 0% 155 36.8% - - - - - NULL MIP 4284 genome.wustl.edu 37 12 56846887 56846887 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012064.3 -1 reviewed p.A192V 1.000 168 0% 101 36.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_MIP,superfamily_MIP MIP 4284 genome.wustl.edu 37 12 56848272 56848272 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012064.3 -1 reviewed p.L42 1.000 82 0% 59 28.8% - - - - - HMMPfam_MIP,superfamily_MIP MIP 4284 genome.wustl.edu 37 12 56848347 56848347 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012064.3 -1 reviewed p.F17L 1.000 129 0% 97 34% - - probably_damaging(0.999) tolerated(0.33) deleterious(0.514) HMMPfam_MIP,superfamily_MIP BAZ2A 11176 genome.wustl.edu 37 12 56992656 56992656 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013449.3 -1 validated p.G1850* 1.000 92 0% 81 12.3% - - - - - HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 NACA 4666 genome.wustl.edu 37 12 57106577 57106577 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001113203.1 -1 validated p.A2072V 1.000 437 0% 237 37.6% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_UBA NACA 4666 genome.wustl.edu 37 12 57106631 57106631 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001113203.1 -1 validated p.S2054L 1.000 402 0% 238 38.7% - - probably_damaging(0.974) deleterious(0.01) deleterious(0.822) HMMPfam_UBA NACA 4666 genome.wustl.edu 37 12 57108169 57108169 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001113203.1 -1 validated p.R1934W 1.000 735 0% 394 31.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_NAC NACA 4666 genome.wustl.edu 37 12 57114544 57114544 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001113203.1 -1 validated p.S257Y 0.951 252 0% 146 26% - - unknown(0) deleterious(0) - NULL NACA 4666 genome.wustl.edu 37 12 57114659 57114659 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001113203.1 -1 validated p.P219S 0.394 330 0% 194 35.6% - - unknown(0) deleterious(0) - NULL ZBTB39 9880 genome.wustl.edu 37 12 57396823 57396823 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014830.1 -1 provisional p.H627Y 1.000 68 0% 60 38.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZBTB39 9880 genome.wustl.edu 37 12 57397402 57397402 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014830.1 -1 provisional p.D434N 0.607 94 0% 58 22.4% - - benign(0.005) tolerated(0.2) neutral(0.049) NULL ZBTB39 9880 genome.wustl.edu 37 12 57398419 57398419 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014830.1 -1 provisional p.D95Y 1.000 82 0% 73 45.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB TAC3 6866 genome.wustl.edu 37 12 57407147 57407147 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013251.3 -1 reviewed p.E78D 0.997 380 0% 187 38.5% - - benign(0.429) deleterious(0.04) deleterious(0.488) NULL MYO1A 4640 genome.wustl.edu 37 12 57430619 57430619 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005379.2 -1 reviewed p.K737N 1.000 593 0% 380 34.2% - - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMSmart_IQ,superfamily_SSF52540 MYO1A 4640 genome.wustl.edu 37 12 57437068 57437068 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005379.2 -1 reviewed p.E323K 1.000 617 0% 338 35.8% - - benign(0.001) tolerated(0.2) neutral(0.049) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO1A 4640 genome.wustl.edu 37 12 57442128 57442128 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005379.2 -1 reviewed e1-1 0.940 68 0% 48 25% - - - - - - NXPH4 11247 genome.wustl.edu 37 12 57619291 57619291 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007224.3 +1 validated p.A230T 1.000 16 0% 20 45% - - benign(0.021) tolerated(1) neutral(0.001) HMMPfam_Neurexophilin SHMT2 6472 genome.wustl.edu 37 12 57626616 57626616 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005412.5 +1 reviewed p.R283* 0.997 67 0% 41 31.7% - - - - - HMMPfam_SHMT,superfamily_PyrdxlP-dep_Trfase_major,PatternScan_SHMT NDUFA4L2 56901 genome.wustl.edu 37 12 57630449 57630449 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020142.3 -1 provisional p.G25S 0.302 45 0% 27 33.3% - - possibly_damaging(0.49) deleterious(0.01) deleterious(0.569) HMMPfam_NADH_ub_rd_NUML STAC3 246329 genome.wustl.edu 37 12 57642566 57642566 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145064.1 -1 provisional p.R119C 1.000 427 0% 266 35% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain INHBE 83729 genome.wustl.edu 37 12 57850327 57850327 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031479.3 +1 validated p.R250Q 1.000 135 0% 107 37.4% - - possibly_damaging(0.458) tolerated(1) neutral(0.150) HMMPfam_TGF_beta,HMMSmart_TGFB,superfamily_SSF57501 GLI1 2735 genome.wustl.edu 37 12 57858597 57858597 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005269.2 +1 reviewed p.S112L 1.000 217 0% 133 14.3% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL ARHGAP9 64333 genome.wustl.edu 37 12 57869326 57869326 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032496.2 -1 reviewed p.E462* 0.888 29 0% 25 20% - - - - - NULL ARHGAP9 64333 genome.wustl.edu 37 12 57872483 57872483 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032496.2 -1 reviewed p.A125V 0.012 104 0% 63 34.9% - - benign(0.23) tolerated(0.11) neutral(0.295) NULL ARHGAP9 64333 genome.wustl.edu 37 12 57873027 57873027 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032496.2 -1 reviewed p.R55* 1.000 248 0% 122 41.8% - - - - - HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 MARS 4141 genome.wustl.edu 37 12 57894268 57894268 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004990.2 +1 reviewed p.D419G 1.000 244 0% 160 36.2% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_tRNA-synt_1g,superfamily_SSF52374,superfamily_SSF57770 DCTN2 10540 genome.wustl.edu 37 12 57928097 57928097 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006400.3 -1 reviewed p.D173N 1.000 173 0% 94 30.9% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Dynamitin KIF5A 3798 genome.wustl.edu 37 12 57969017 57969017 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004984.2 +1 reviewed p.G623R 0.996 115 0% 86 30.2% - - possibly_damaging(0.908) tolerated(0.37) neutral(0.381) NULL KIF5A 3798 genome.wustl.edu 37 12 57972039 57972039 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004984.2 +1 reviewed p.E818K 1.000 85 0% 55 45.5% - - benign(0.103) tolerated(0.22) neutral(0.050) superfamily_Prefoldin PIP4K2C 79837 genome.wustl.edu 37 12 57994113 57994113 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024779.4 +1 validated p.E236* 1.000 363 0% 158 41.1% - - - - - HMMPfam_PIP5K,HMMSmart_PIPKc,superfamily_SSF56104 ARHGEF25 115557 genome.wustl.edu 37 12 58007836 58007836 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001111270.1 +1 validated p.E236G 1.000 168 0% 141 38.3% - - probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) ARHGEF25 115557 genome.wustl.edu 37 12 58009483 58009483 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001111270.1 +1 validated p.K448N 1.000 397 0% 158 35.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PH domain-like B4GALNT1 2583 genome.wustl.edu 37 12 58025054 58025054 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001478.3 -1 reviewed p.K104N 0.996 131 0% 98 37.8% - - benign(0.006) tolerated(0.44) neutral(0.013) NULL AGAP2 116986 genome.wustl.edu 37 12 58126271 58126271 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001122772.1 -1 validated p.R570H 0.895 83 0% 52 25% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases AGAP2 116986 genome.wustl.edu 37 12 58131355 58131355 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001122772.1 -1 validated p.K225N 1.000 16 0% 12 50% - - unknown(0) deleterious(0) - NULL CDK4 1019 genome.wustl.edu 37 12 58145397 58145397 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000075.2 -1 reviewed p.K35R 1.000 179 0% 79 30.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase METTL1 4234 genome.wustl.edu 37 12 58163148 58163148 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005371.5 -1 reviewed p.D205N 0.000 110 0.9% 74 29.7% - - benign(0) tolerated(0.43) neutral(0.013) HMMPfam_Methyltransf_4,superfamily_SSF53335 TSFM 10102 genome.wustl.edu 37 12 58189990 58189990 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005726.5 +1 reviewed p.R201Q 1.000 96 0% 47 42.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_EF_TS,superfamily_Elongation factor Ts (EF-Ts) dimerisation domain TSFM 10102 genome.wustl.edu 37 12 58190000 58190000 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005726.5 +1 reviewed p.W204* 1.000 102 0% 58 34.5% - - - - - HMMPfam_EF_TS,superfamily_Elongation factor Ts (EF-Ts) dimerisation domain AVIL 10677 genome.wustl.edu 37 12 58200177 58200177 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006576.3 -1 reviewed p.R546Q 0.370 327 0% 174 16.1% - - benign(0.003) tolerated(0.17) neutral(0.059) HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins SLC16A7 9194 genome.wustl.edu 37 12 60168877 60168877 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004731.3 +1 provisional p.F267L 1.000 278 0% 161 29.8% - - probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter MON2 23041 genome.wustl.edu 37 12 62877993 62877993 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015026.2 +1 validated p.R52Q 1.000 117 0% 41 39% - - possibly_damaging(0.602) tolerated(0.21) neutral(0.253) NULL MON2 23041 genome.wustl.edu 37 12 62926222 62926222 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015026.2 +1 validated p.E469* 1.000 202 0% 110 35.5% - - - - - NULL MON2 23041 genome.wustl.edu 37 12 62943563 62943563 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015026.2 +1 validated p.L957F 1.000 338 0% 156 39.1% - - possibly_damaging(0.788) deleterious(0.03) deleterious(0.659) superfamily_ARM-type_fold PPM1H 57460 genome.wustl.edu 37 12 63042337 63042337 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020700.1 -1 validated p.R493* 1.000 229 0% 179 48.6% - - - - - HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain SRGAP1 57522 genome.wustl.edu 37 12 64485097 64485097 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020762.2 +1 validated p.S493F 1.000 385 0% 191 40.8% - - benign(0.229) deleterious(0.04) neutral(0.372) NULL C12orf66 144577 genome.wustl.edu 37 12 64609707 64609707 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152440.4 -1 validated p.R91H 1.000 105 0% 59 35.6% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_DUF2003 WIF1 11197 genome.wustl.edu 37 12 65471603 65471603 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007191.4 -1 reviewed p.R107H 1.000 213 0% 141 40.4% - - possibly_damaging(0.492) deleterious(0.03) deleterious(0.528) HMMPfam_WIF,HMMSmart_WIF WIF1 11197 genome.wustl.edu 37 12 65514322 65514322 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007191.4 -1 reviewed p.I55V 1.000 365 0% 214 32.7% - - benign(0) tolerated(0.08) neutral(0.300) HMMPfam_WIF,HMMSmart_WIF TMBIM4 51643 genome.wustl.edu 37 12 66531943 66531943 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016056.2 -1 validated p.F172I 0.997 109 0% 51 39.2% - - benign(0.184) tolerated(0.11) neutral(0.289) HMMPfam_UPF0005 HELB 92797 genome.wustl.edu 37 12 66704100 66704100 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033647.2 +1 reviewed p.M464I 1.000 305 0% 158 34.8% - - possibly_damaging(0.837) tolerated(0.23) neutral(0.361) superfamily_P-loop containing nucleoside triphosphate hydrolases HELB 92797 genome.wustl.edu 37 12 66731874 66731874 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033647.2 +1 reviewed p.E1086K 0.069 146 0% 61 26.2% - - possibly_damaging(0.715) deleterious(0.01) deleterious(0.665) NULL DYRK2 8445 genome.wustl.edu 37 12 68051809 68051809 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006482.2 +1 reviewed p.Y374 0.993 291 0% 156 35.9% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase IFNG 3458 genome.wustl.edu 37 12 68551693 68551693 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000619.2 -1 reviewed p.S122 0.248 359 0% 201 11.4% - - - - - HMMPfam_IFN-gamma,superfamily_4-helical cytokines MDM1 56890 genome.wustl.edu 37 12 68696574 68696574 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017440.4 -1 reviewed p.D600Y 1.000 257 0% 108 25.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MDM1 56890 genome.wustl.edu 37 12 68709002 68709002 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017440.4 -1 reviewed p.E409K 0.017 264 0% 161 16.8% - - - - - NULL NUP107 57122 genome.wustl.edu 37 12 69128526 69128526 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020401.2 +1 reviewed p.M767I 1.000 330 0% 134 35.1% - - benign(0.005) tolerated(0.38) neutral(0.018) HMMPfam_Nup84_Nup100 MDM2 4193 genome.wustl.edu 37 12 69210629 69210629 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002392.3 +1 reviewed p.R71Q 0.998 331 0% 199 27.6% - - benign(0.003) tolerated(1) - HMMPfam_SWIB,superfamily_SWIB/MDM2 domain CPSF6 11052 genome.wustl.edu 37 12 69656191 69656191 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007007.2 +1 validated p.R503Q 1.000 234 0% 112 33.9% - - unknown(0) deleterious(0.04) - NULL YEATS4 8089 genome.wustl.edu 37 12 69764573 69764573 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006530.2 +1 reviewed p.E141* 1.000 365 0% 179 34.6% - - - - - NULL CCT2 10576 genome.wustl.edu 37 12 69983347 69983347 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006431.2 +1 reviewed p.D177Y 1.000 334 0% 164 33.5% - - benign(0.209) deleterious(0) neutral(0.465) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL-intermediate domain like BEST3 144453 genome.wustl.edu 37 12 70070999 70070999 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032735.2 -1 validated p.F225 0.971 165 0% 64 31.2% - - unknown(0) - - HMMPfam_Bestrophin BEST3 144453 genome.wustl.edu 37 12 70088237 70088237 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032735.2 -1 validated p.L54I 1.000 359 0% 210 36.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Bestrophin CNOT2 4848 genome.wustl.edu 37 12 70704744 70704744 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014515.4 +1 provisional p.E40K 1.000 262 0% 101 10.9% - - possibly_damaging(0.561) deleterious(0.04) deleterious(0.540) NULL PTPRB 5787 genome.wustl.edu 37 12 70980815 70980815 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001109754.1 -1 reviewed p.K761N 1.000 204 0% 129 47.3% - - benign(0.248) tolerated(0.27) neutral(0.059) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRB 5787 genome.wustl.edu 37 12 71029454 71029454 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001109754.1 -1 reviewed p.K150Q 0.829 246 0% 127 33.1% - - probably_damaging(0.978) tolerated(0.45) neutral(0.432) NULL PTPRR 5801 genome.wustl.edu 37 12 71139848 71139848 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002849.2 -1 reviewed p.E253* 1.000 378 0% 187 34.2% - - - - - NULL LGR5 8549 genome.wustl.edu 37 12 71955587 71955587 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003667.2 +1 provisional p.S271L 0.993 192 0% 92 35.9% - - benign(0.005) tolerated(0.64) neutral(0.003) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_RNI-like ZFC3H1 196441 genome.wustl.edu 37 12 72029250 72029250 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144982.4 -1 validated p.M737I 1.000 393 0% 212 13.2% - - probably_damaging(0.978) deleterious(0.02) deleterious(0.803) NULL TBC1D15 64786 genome.wustl.edu 37 12 72255232 72255232 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000407399 +1 known p.G4* 0.003 415 0% 193 19.7% - - - - - NULL TRHDE 29953 genome.wustl.edu 37 12 72771853 72771853 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013381.2 +1 reviewed p.E378K 1.000 137 0% 45 46.7% - - benign(0.005) tolerated(0.91) - HMMPfam_Peptidase_M1,superfamily_SSF55486 TRHDE 29953 genome.wustl.edu 37 12 72866922 72866922 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013381.2 +1 reviewed p.F471V 1.000 821 0% 444 33.6% - - benign(0.271) tolerated(0.09) neutral(0.326) HMMPfam_Peptidase_M1,superfamily_SSF55486 TRHDE 29953 genome.wustl.edu 37 12 72936120 72936120 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013381.2 +1 reviewed p.F546S 1.000 733 0% 277 35% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF55486 TRHDE 29953 genome.wustl.edu 37 12 73056956 73056956 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013381.2 +1 reviewed p.G1019V 1.000 76 0% 64 37.5% - - benign(0.086) tolerated(0.26) neutral(0.041) NULL KCNC2 3747 genome.wustl.edu 37 12 75444191 75444191 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139137.2 -1 reviewed p.L532I 0.683 229 0.4% 175 38.9% - - benign(0.008) tolerated(1) - NULL KCNC2 3747 genome.wustl.edu 37 12 75601463 75601463 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139137.2 -1 reviewed p.E101K 1.000 10 0% 19 42.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain CAPS2 84698 genome.wustl.edu 37 12 75676101 75676101 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032606.3 -1 validated p.K533N 1.000 218 0% 102 33.3% - - possibly_damaging(0.746) tolerated(0.06) deleterious(0.597) superfamily_EF-hand CAPS2 84698 genome.wustl.edu 37 12 75693617 75693617 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032606.3 -1 validated p.R304H 1.000 158 0% 57 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CAPS2 84698 genome.wustl.edu 37 12 75720286 75720286 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032606.3 -1 validated p.G17E 0.000 232 0% 136 38.2% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL GLIPR1 11010 genome.wustl.edu 37 12 75884218 75884218 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000456650 +1 known p.A175V 1.000 313 0% 167 46.7% - - unknown(0) - - NULL NAP1L1 4673 genome.wustl.edu 37 12 76453579 76453579 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004537.4 -1 reviewed p.S143L 1.000 372 0% 132 34.8% - - benign(0.148) deleterious(0.05) neutral(0.358) HMMPfam_NAP NAP1L1 4673 genome.wustl.edu 37 12 76453981 76453981 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004537.4 -1 reviewed p.F95L 1.000 510 0% 263 36.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NAP BBS10 79738 genome.wustl.edu 37 12 76739617 76739617 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024685.3 -1 reviewed p.N716 0.934 244 0% 156 37.2% - - - - - NULL OSBPL8 114882 genome.wustl.edu 37 12 76767213 76767213 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020841.4 -1 reviewed p.P610S 1.000 211 0% 70 17.1% - - probably_damaging(0.983) tolerated(0.07) deleterious(0.748) HMMPfam_Oxysterol_BP OSBPL8 114882 genome.wustl.edu 37 12 76780420 76780420 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020841.4 -1 reviewed p.P458H 1.000 183 0% 59 28.8% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Oxysterol_BP ZDHHC17 23390 genome.wustl.edu 37 12 77240413 77240413 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015336.2 +1 validated p.F487L 1.000 898 0% 457 40.5% - - possibly_damaging(0.888) tolerated(0.24) neutral(0.385) HMMPfam_zf-DHHC ZDHHC17 23390 genome.wustl.edu 37 12 77244667 77244667 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015336.2 +1 validated p.R601* 1.000 353 0.6% 178 36.5% - - - - - NULL CSRP2 1466 genome.wustl.edu 37 12 77252795 77252795 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001321.1 -1 reviewed p.K173N 1.000 233 0% 116 35.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_LIM,superfamily_Glucocorticoid receptor-like (DNA-binding domain) E2F7 144455 genome.wustl.edu 37 12 77444494 77444494 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_203394.2 -1 validated p.E134K 1.000 327 0% 212 32.5% - - possibly_damaging(0.445) deleterious(0.04) deleterious(0.494) NULL NAV3 89795 genome.wustl.edu 37 12 78334098 78334098 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014903.4 +1 validated e2-1 1.000 248 0% 121 30.6% - - - - - - NAV3 89795 genome.wustl.edu 37 12 78360008 78360008 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014903.4 +1 validated e4-1 1.000 625 0% 263 14.4% - - - - - - NAV3 89795 genome.wustl.edu 37 12 78513528 78513528 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014903.4 +1 validated p.I1184M 0.973 258 0% 127 31.5% - - benign(0.212) tolerated(0.07) neutral(0.340) NULL NAV3 89795 genome.wustl.edu 37 12 78583805 78583805 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014903.4 +1 validated p.L2011M 0.925 358 0% 151 41.7% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) superfamily_P-loop containing nucleoside triphosphate hydrolases SYT1 6857 genome.wustl.edu 37 12 79685839 79685839 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135805.1 +1 validated p.E135* 1.000 539 0% 194 35.1% - - - - - NULL OTOGL 283310 genome.wustl.edu 37 12 80712401 80712401 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343203.1 +1 model p.R1142K 0.990 247 0% 93 41.9% - - benign(0) tolerated(0.36) neutral(0.020) NULL OTOGL 283310 genome.wustl.edu 37 12 80714249 80714249 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343203.1 +1 model p.L1189I 1.000 174 0% 121 29.8% - - benign(0.263) deleterious(0) deleterious(0.472) superfamily_AbfB domain (Pfam 05270) OTOGL 283310 genome.wustl.edu 37 12 80735787 80735787 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343203.1 +1 model p.N1601Y 0.989 175 0% 60 11.7% - - probably_damaging(0.998) tolerated(0.05) deleterious(0.820) NULL OTOGL 283310 genome.wustl.edu 37 12 80750625 80750625 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343203.1 +1 model p.E1881* 0.918 245 0% 103 32% - - - - - NULL OTOGL 283310 genome.wustl.edu 37 12 80752498 80752498 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343203.1 +1 model p.D1954N 1.000 421 0% 194 35.6% - - probably_damaging(0.995) tolerated(0.46) deleterious(0.470) NULL OTOGL 283310 genome.wustl.edu 37 12 80761370 80761370 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343203.1 +1 model p.V2018L 0.991 274 0% 133 32.3% - - possibly_damaging(0.746) tolerated(1) neutral(0.274) NULL PTPRQ 374462 genome.wustl.edu 37 12 80878279 80878279 + Missense_Mutation SNP G G T rs190098322 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000266688 +1 known p.K418N 1.000 273 0% 86 32.6% - - benign(0.328) tolerated(0.29) neutral(0.132) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRQ 374462 genome.wustl.edu 37 12 80899820 80899820 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000266688 +1 known p.E764K 1.000 93 0% 46 50% - - possibly_damaging(0.575) tolerated(0.39) neutral(0.213) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRQ 374462 genome.wustl.edu 37 12 80900405 80900405 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000266688 +1 known p.E838A 1.000 299 0% 125 30.4% - - probably_damaging(0.996) tolerated(0.15) deleterious(0.703) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRQ 374462 genome.wustl.edu 37 12 81004290 81004290 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000266688 +1 known p.L1602V 1.000 151 0% 57 31.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MYF5 4617 genome.wustl.edu 37 12 81112702 81112702 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005593.2 +1 validated p.I214V 1.000 236 0% 111 27% - - benign(0.428) deleterious(0) deleterious(0.584) NULL MYF5 4617 genome.wustl.edu 37 12 81112815 81112815 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005593.2 +1 validated p.I251 1.000 153 0% 97 27.8% - - - - - NULL LIN7A 8825 genome.wustl.edu 37 12 81239614 81239614 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004664.2 -1 validated p.K126N 0.999 197 0% 100 36% - - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like PPFIA2 8499 genome.wustl.edu 37 12 81747063 81747063 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003625.2 -1 reviewed p.S610I 1.000 518 0% 292 32.2% - - benign(0) deleterious(0.04) neutral(0.349) NULL PPFIA2 8499 genome.wustl.edu 37 12 81777837 81777837 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003625.2 -1 reviewed p.E317* 1.000 557 0% 228 36.8% - - - - - NULL PPFIA2 8499 genome.wustl.edu 37 12 81839385 81839385 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003625.2 -1 reviewed p.L174I 1.000 332 0% 197 27.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC6A15 55117 genome.wustl.edu 37 12 85264428 85264428 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182767.4 -1 validated p.A442T 1.000 127 0% 84 39.3% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_SNF SLC6A15 55117 genome.wustl.edu 37 12 85279273 85279273 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182767.4 -1 validated p.S172Y 1.000 247 0% 94 16% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_2 TSPAN19 144448 genome.wustl.edu 37 12 85413411 85413411 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001100917.1 -1 validated p.Q148H 1.000 236 0% 83 36.1% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Tetraspanin,HMMPfam_Tetraspannin LRRIQ1 84125 genome.wustl.edu 37 12 85434286 85434286 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079910.1 +1 validated p.E51* 0.997 168 0% 56 23.2% - - - - - NULL LRRIQ1 84125 genome.wustl.edu 37 12 85441227 85441227 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079910.1 +1 validated p.K219N 0.994 154 0% 57 21.1% - - probably_damaging(0.982) tolerated(0.08) deleterious(0.726) superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85449335 85449335 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079910.1 +1 validated p.R255I 0.214 99 0% 47 23.4% - - possibly_damaging(0.856) deleterious(0.01) deleterious(0.736) superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85449823 85449823 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079910.1 +1 validated p.D418Y 0.001 121 0% 46 43.5% - - possibly_damaging(0.66) deleterious(0.05) deleterious(0.579) superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85450583 85450583 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079910.1 +1 validated p.R671I 0.000 129 0% 53 75.5% - - benign(0.001) tolerated(0.08) neutral(0.300) superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85521758 85521758 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079910.1 +1 validated p.E1386K 0.000 249 0% 106 36.8% - - benign(0) tolerated(0.54) neutral(0.007) superfamily_P-loop containing nucleoside triphosphate hydrolases LRRIQ1 84125 genome.wustl.edu 37 12 85531740 85531740 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079910.1 +1 validated p.F1441Y 1.000 221 0% 99 29.3% - - benign(0.132) deleterious(0.04) neutral(0.360) NULL ALX1 8092 genome.wustl.edu 37 12 85695213 85695213 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006982.2 +1 reviewed p.K314R 1.000 219 0% 109 37.6% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_OAR RASSF9 9182 genome.wustl.edu 37 12 86199312 86199312 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005447.3 -1 reviewed p.R159I 1.000 484 0% 244 39.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NTS 4922 genome.wustl.edu 37 12 86272216 86272216 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006183.3 +1 reviewed p.E77* 1.000 228 0% 110 39.1% - - - - - HMMPfam_Pro-NT_NN C12orf50 160419 genome.wustl.edu 37 12 88390424 88390424 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152589.1 -1 predicted e4-1 1.000 400 0% 163 26.4% - - - - - - CEP290 80184 genome.wustl.edu 37 12 88453782 88453782 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025114.3 -1 reviewed p.L2180F 1.000 287 0% 135 28.9% - - possibly_damaging(0.911) deleterious(0.02) deleterious(0.746) NULL ATP2B1 490 genome.wustl.edu 37 12 89996871 89996871 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001682.2 -1 reviewed p.I1003 1.000 366 0% 179 33.5% - - - - - HMMPfam_Cation_ATPase_C,superfamily_SSF81665 ATP2B1 490 genome.wustl.edu 37 12 90010631 90010631 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001682.2 -1 reviewed p.T672I 1.000 353 0% 228 35.5% - - benign(0.005) tolerated(0.05) neutral(0.345) HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 LUM 4060 genome.wustl.edu 37 12 91502222 91502222 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002345.3 -1 reviewed p.A179T 1.000 189 0% 133 30.1% - - benign(0) tolerated(0.99) - HMMSmart_SM00369,superfamily_L domain-like EEA1 8411 genome.wustl.edu 37 12 93172973 93172973 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003566.3 -1 validated p.R1191I 0.458 700 0% 350 36.3% - - benign(0.055) tolerated(0.1) neutral(0.290) NULL EEA1 8411 genome.wustl.edu 37 12 93213240 93213240 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003566.3 -1 validated p.K524N 1.000 229 0% 97 49.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SOCS2 8835 genome.wustl.edu 37 12 93968645 93968645 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003877.3 +1 reviewed p.R96Q 1.000 203 0% 95 37.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain PLXNC1 10154 genome.wustl.edu 37 12 94575305 94575305 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005761.1 +1 provisional p.L429 0.495 226 0% 102 32.4% - - - - - superfamily_Sema PLXNC1 10154 genome.wustl.edu 37 12 94642056 94642056 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005761.1 +1 provisional p.F882L 0.999 80 0% 42 45.2% - - benign(0.044) tolerated(0.64) neutral(0.005) HMMSmart_IPT PLXNC1 10154 genome.wustl.edu 37 12 94692548 94692548 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005761.1 +1 provisional p.V1405 0.158 273 0% 155 31.6% - - - - - superfamily_Rho_GAP,HMMPfam_Plexin_cytopl CCDC41 51134 genome.wustl.edu 37 12 94772619 94772619 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042399.1 -1 validated p.R250I 1.000 312 0% 161 35.4% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL CCDC41 51134 genome.wustl.edu 37 12 94796990 94796990 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042399.1 -1 validated p.E125K 1.000 545 0% 209 39.2% - - possibly_damaging(0.902) tolerated(0.56) neutral(0.363) NULL RBMS2P1 643427 genome.wustl.edu 37 12 94818033 94818033 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000393113 -1 known p.W208R 1.000 362 0% 233 35.6% - - - - - NULL RBMS2P1 643427 genome.wustl.edu 37 12 94818153 94818153 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000393113 -1 known p.K168Q 1.000 209 0% 134 39.6% - - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD TMCC3 57458 genome.wustl.edu 37 12 94965440 94965440 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020698.2 -1 validated p.T402I 0.996 308 0% 201 31.3% - - benign(0.086) tolerated(0.28) neutral(0.038) HMMPfam_Tmemb_cc2 VEZT 55591 genome.wustl.edu 37 12 95681476 95681476 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017599.3 +1 validated p.V455 1.000 181 0% 75 33.3% - - - - - NULL METAP2 10988 genome.wustl.edu 37 12 95905696 95905696 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006838.3 +1 reviewed p.G330 0.998 364 0% 167 35.3% - - - - - HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase LTA4H 4048 genome.wustl.edu 37 12 96421316 96421316 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000895.1 -1 provisional p.S106Y 0.866 172 0% 91 30.8% - - benign(0.041) tolerated(0.33) neutral(0.026) HMMPfam_Peptidase_M1,superfamily_Leukotriene A4 hydrolase N-terminal domain ELK3 2004 genome.wustl.edu 37 12 96617428 96617428 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005230.2 +1 reviewed p.S28 0.956 198 0% 133 26.3% - - - - - "HMMPfam_Ets,HMMSmart_SM00413,superfamily_""Winged helix"" DNA-binding domain" CDK17 5128 genome.wustl.edu 37 12 96682999 96682999 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002595.3 -1 reviewed p.R355Q 1.000 493 0% 285 41.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ENSG00000227825 0 genome.wustl.edu 37 12 98849342 98849342 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000370696 -1 known p.G186* 1.000 189 0% 134 38.1% - - - - - HMMPfam_Na_H_Exchanger TMPO 7112 genome.wustl.edu 37 12 98909645 98909645 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000343315 +1 known p.E33D 1.000 33 0% 20 20% - - - - - NULL TMPO 7112 genome.wustl.edu 37 12 98927144 98927144 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003276.2 +1 reviewed p.S370Y 1.000 154 0% 97 34% - - possibly_damaging(0.824) deleterious(0) deleterious(0.756) NULL TMPO 7112 genome.wustl.edu 37 12 98928026 98928026 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003276.2 +1 reviewed p.S664Y 1.000 94 0% 42 21.4% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL APAF1 317 genome.wustl.edu 37 12 99043444 99043444 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181861.1 +1 reviewed p.D170Y 1.000 338 0% 180 41.1% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_NB-ARC,superfamily_WD40 repeat-like,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM71C 196472 genome.wustl.edu 37 12 100042058 100042058 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153364.1 +1 predicted p.E36K 0.179 160 0% 91 37.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UHRF1BP1L 23074 genome.wustl.edu 37 12 100441403 100441403 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015054.1 -1 validated p.R1329Q 0.955 221 0% 131 29% - - probably_damaging(1) tolerated(0.11) deleterious(0.772) NULL UHRF1BP1L 23074 genome.wustl.edu 37 12 100476837 100476837 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015054.1 -1 validated p.S455Y 1.000 371 0% 169 39.1% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL ANO4 121601 genome.wustl.edu 37 12 101490414 101490414 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178826.3 +1 validated p.F578 1.000 287 0% 160 22.5% - - - - - NULL UTP20 27340 genome.wustl.edu 37 12 101705988 101705988 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014503.2 +1 validated p.T829N 1.000 232 0% 94 37.2% - - benign(0.004) tolerated(0.53) neutral(0.007) superfamily_ARM repeat UTP20 27340 genome.wustl.edu 37 12 101727125 101727125 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014503.2 +1 validated p.G1155V 1.000 304 0% 121 25.6% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) superfamily_ARM repeat UTP20 27340 genome.wustl.edu 37 12 101774984 101774984 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014503.2 +1 validated p.E2551* 1.000 219 0% 124 42.7% - - - - - superfamily_ARM repeat SPIC 121599 genome.wustl.edu 37 12 101873414 101873414 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152323.1 +1 provisional p.S51F 0.223 271 0% 116 38.8% - - possibly_damaging(0.906) tolerated(0.17) neutral(0.418) NULL GNPTAB 79158 genome.wustl.edu 37 12 102158081 102158081 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024312.4 -1 reviewed p.V872I 0.000 760 0% 377 34.5% - - benign(0) tolerated(0.3) neutral(0.029) NULL GNPTAB 79158 genome.wustl.edu 37 12 102174052 102174052 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024312.4 -1 reviewed p.E217* 1.000 429 0% 255 38% - - - - - NULL CCDC53 51019 genome.wustl.edu 37 12 102419762 102419762 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016053.2 -1 validated p.D164Y 1.000 302 0% 137 39.4% - - probably_damaging(0.976) deleterious(0.03) deleterious(0.782) HMMPfam_DUF2360 PARPBP 55010 genome.wustl.edu 37 12 102589943 102589943 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017915.2 +1 predicted p.K457N 0.087 204 0% 77 39% - - benign(0.126) tolerated(0.26) neutral(0.045) NULL PMCH 5367 genome.wustl.edu 37 12 102590434 102590434 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002674.2 -1 validated p.V165A 1.000 152 0% 45 37.8% - - benign(0.227) deleterious(0.01) neutral(0.428) HMMPfam_Pro-MCH C12orf42 374470 genome.wustl.edu 37 12 103699754 103699754 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099336.1 -1 validated p.S210Y 0.009 79 0% 40 22.5% - - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) NULL HSP90B1 7184 genome.wustl.edu 37 12 104326086 104326086 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003299.1 +1 provisional p.N62H 1.000 176 0% 73 42.5% - - possibly_damaging(0.843) deleterious(0) deleterious(0.768) NULL HSP90B1 7184 genome.wustl.edu 37 12 104337001 104337001 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003299.1 +1 provisional p.F598 1.000 361 0% 131 42.7% - - - - - HMMPfam_HSP90 HSP90B1 7184 genome.wustl.edu 37 12 104341158 104341158 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003299.1 +1 provisional p.E778K 0.617 1163 0% 381 34.6% - - unknown(0) tolerated(0.24) - HMMPfam_HSP90 HCFC2 29915 genome.wustl.edu 37 12 104473321 104473321 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013320.2 +1 reviewed p.E191G 1.000 301 1% 167 15% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2 HCFC2 29915 genome.wustl.edu 37 12 104495794 104495794 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013320.2 +1 reviewed p.L643I 1.000 373 0% 191 33% - - possibly_damaging(0.917) deleterious(0.01) deleterious(0.774) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III EID3 493861 genome.wustl.edu 37 12 104698410 104698410 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008394.1 +1 provisional p.R233Q 0.002 249 0% 114 37.7% - - benign(0.023) tolerated(0.58) neutral(0.006) HMMPfam_Nse4 KIAA1033 23325 genome.wustl.edu 37 12 105534077 105534077 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015275.1 +1 validated p.I486 1.000 352 0% 190 34.2% - - - - - NULL NUAK1 9891 genome.wustl.edu 37 12 106461102 106461102 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000359413 -1 known p.R201Q 0.015 204 0.5% 130 38.5% - - unknown(0) deleterious(0.04) - HMMSmart_SM00219,HMMSmart_SM00220 LOC341378 341378 genome.wustl.edu 37 12 106565705 106565705 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001715424.1 +1 model p.L183 0.978 417 0% 180 34.4% - - - - - NULL CKAP4 10970 genome.wustl.edu 37 12 106633278 106633278 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006825.3 -1 validated p.E445K 0.811 18 0% 19 36.8% - - possibly_damaging(0.837) tolerated(0.37) neutral(0.339) NULL CKAP4 10970 genome.wustl.edu 37 12 106633584 106633584 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006825.3 -1 validated p.D343N 0.612 70 0% 65 49.2% - - benign(0.098) tolerated(0.25) neutral(0.044) NULL TCP11L2 255394 genome.wustl.edu 37 12 106740070 106740070 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152772.1 +1 provisional p.R441Q 1.000 118 0% 74 29.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tcp11 POLR3B 55703 genome.wustl.edu 37 12 106848407 106848407 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018082.5 +1 validated p.Q737H 1.000 247 0% 130 10% - - benign(0.111) tolerated(0.1) neutral(0.295) HMMPfam_RNA_pol_Rpb2_6,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase RFX4 5992 genome.wustl.edu 37 12 107078643 107078643 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032491.4 +1 reviewed p.Q18K 0.060 238 0% 109 36.7% - - benign(0) tolerated(0.05) neutral(0.345) NULL RFX4 5992 genome.wustl.edu 37 12 107109305 107109305 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_213594.1 +1 reviewed p.R374Q 1.000 361 0% 145 31% - - benign(0.199) tolerated(0.53) neutral(0.026) NULL RIC8B 55188 genome.wustl.edu 37 12 107268289 107268289 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000355478 +1 known p.D494 1.000 291 0% 172 41.9% - - - - - HMMPfam_Ric8 MTERFD3 80298 genome.wustl.edu 37 12 107371730 107371730 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001033050.1 -1 validated p.L255I 1.000 126 0.8% 57 35.1% - - benign(0.003) tolerated(0.88) - HMMPfam_mTERF BTBD11 121551 genome.wustl.edu 37 12 108004016 108004016 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001018072.1 +1 validated p.E565K 1.000 134 0% 92 31.5% - - probably_damaging(0.979) tolerated(0.81) neutral(0.422) NULL BTBD11 121551 genome.wustl.edu 37 12 108029072 108029072 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001018072.1 +1 validated p.I881T 1.000 190 0% 95 22.1% - - possibly_damaging(0.932) tolerated(0.85) neutral(0.379) NULL PRDM4 11108 genome.wustl.edu 37 12 108137013 108137013 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012406.3 -1 reviewed p.E481G 1.000 273 0% 205 37.1% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMSmart_SET FICD 11153 genome.wustl.edu 37 12 108912469 108912469 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007076.2 +1 validated p.I198 1.000 139 0% 94 31.9% - - - - - NULL SELPLG 6404 genome.wustl.edu 37 12 109017326 109017326 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003006.3 -1 reviewed p.T243N 0.000 978 0.1% 758 34.6% - - possibly_damaging(0.662) tolerated(0.2) neutral(0.283) NULL CORO1C 23603 genome.wustl.edu 37 12 109072154 109072154 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014325.2 -1 reviewed p.K71T 1.000 136 0% 110 39.1% - - benign(0.427) tolerated(0.49) neutral(0.150) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 SSH1 54434 genome.wustl.edu 37 12 109192889 109192889 + Silent SNP G G A rs184372660 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018984.3 -1 validated p.F412 0.653 126 0% 101 81.2% - - - - - HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II SSH1 54434 genome.wustl.edu 37 12 109246430 109246430 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018984.3 -1 validated p.R32* 0.777 226 0% 140 40% - - - - - NULL DAO 1610 genome.wustl.edu 37 12 109293207 109293207 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001917.4 +1 reviewed p.R290W 0.995 81 0% 48 43.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DAO,superfamily_Nucleotide-binding domain DAO 1610 genome.wustl.edu 37 12 109294262 109294262 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001917.4 +1 reviewed p.R332I 0.998 120 0% 65 29.2% - - benign(0.049) deleterious(0.03) neutral(0.367) superfamily_Nucleotide-binding domain ACACB 32 genome.wustl.edu 37 12 109610110 109610110 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001093.3 +1 reviewed p.E356K 1.000 308 0% 272 33.8% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp domain ACACB 32 genome.wustl.edu 37 12 109613968 109613968 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001093.3 +1 reviewed p.R446I 0.900 271 0% 176 33% - - possibly_damaging(0.667) tolerated(0.09) deleterious(0.532) HMMPfam_CPSase_L_D2,superfamily_Glutathione synthetase ATP-binding domain-like ACACB 32 genome.wustl.edu 37 12 109637212 109637212 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001093.3 +1 reviewed p.R878Q 1.000 268 0.4% 161 40.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ACACB 32 genome.wustl.edu 37 12 109689870 109689870 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001093.3 +1 reviewed p.G1937V 1.000 105 0% 63 42.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Carboxyl_trans,superfamily_ClpP/crotonase MYO1H 283446 genome.wustl.edu 37 12 109845746 109845746 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001101421.3 +1 provisional p.L379F 0.000 420 0% 188 10.1% - - unknown(0) tolerated(0.7) - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases UBE3B 89910 genome.wustl.edu 37 12 109926461 109926461 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_130466.2 +1 reviewed p.L178I 0.995 355 0% 206 36.9% - - benign(0.196) tolerated(0.06) neutral(0.341) NULL UBE3B 89910 genome.wustl.edu 37 12 109959078 109959078 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_130466.2 +1 reviewed p.F734L 1.000 342 0% 155 32.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain MMAB 326625 genome.wustl.edu 37 12 110002938 110002938 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052845.3 -1 reviewed p.E112K 0.193 241 0% 159 13.8% - - benign(0.024) tolerated(0.17) neutral(0.060) HMMPfam_Cob_adeno_trans,superfamily_Cobalamin adenosyltransferase-like MVK 4598 genome.wustl.edu 37 12 110029057 110029057 + Silent SNP C C T rs34975996 byCluster;byFrequency;by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000431.2 +1 reviewed p.I260 1.000 273 0% 150 28% - - - - - superfamily_GHMP Kinase C-terminal domain C12orf34 84915 genome.wustl.edu 37 12 110205845 110205845 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032829.2 +1 validated p.S37 1.000 44 0% 40 30% - - - - - NULL TRPV4 59341 genome.wustl.edu 37 12 110234490 110234490 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021625.4 -1 reviewed p.R391Q 1.000 116 0% 95 37.9% - - possibly_damaging(0.892) tolerated(1) neutral(0.351) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat GIT2 9815 genome.wustl.edu 37 12 110370837 110370837 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_057169.3 -1 reviewed p.I742 1.000 371 0% 229 39.3% - - - - - NULL ANKRD13A 88455 genome.wustl.edu 37 12 110463586 110463586 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033121.1 +1 validated p.R281C 1.000 432 0.5% 253 13.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HVCN1 84329 genome.wustl.edu 37 12 111099203 111099203 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040107.1 -1 validated p.F24L 1.000 149 0% 120 40.8% - - possibly_damaging(0.636) deleterious(0.03) deleterious(0.587) NULL PPP1CC 5501 genome.wustl.edu 37 12 111158933 111158933 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002710.2 -1 validated p.T307M 1.000 868 0% 438 37.7% - - benign(0.019) tolerated(0.1) neutral(0.287) NULL CCDC63 160762 genome.wustl.edu 37 12 111311649 111311649 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152591.1 +1 provisional p.L125I 0.045 185 0% 84 47.6% - - benign(0.024) tolerated(0.09) neutral(0.297) NULL CCDC63 160762 genome.wustl.edu 37 12 111322047 111322047 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152591.1 +1 provisional p.R356Q 0.003 182 0% 107 37.4% - - possibly_damaging(0.948) tolerated(0.31) neutral(0.418) NULL ATXN2 6311 genome.wustl.edu 37 12 111958758 111958758 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002973.3 -1 reviewed p.N399S 1.000 249 0% 131 28.2% - - benign(0.009) deleterious(0.05) neutral(0.346) NULL BRAP 8315 genome.wustl.edu 37 12 112096635 112096635 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006768.3 -1 reviewed p.R376* 1.000 465 0.2% 291 37.1% - - - - - HMMPfam_zf-UBP TMEM116 89894 genome.wustl.edu 37 12 112370395 112370395 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138341.1 -1 provisional p.L176I 1.000 399 0% 219 33.8% - - probably_damaging(0.996) tolerated(0.2) deleterious(0.511) NULL NAA25 80018 genome.wustl.edu 37 12 112471084 112471084 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024953.3 -1 reviewed p.A917T 1.000 348 0% 166 28.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NAA25 80018 genome.wustl.edu 37 12 112509810 112509810 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024953.3 -1 reviewed p.R309W 0.983 249 0% 159 38.4% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_NatB_MDM20,superfamily_TPR-like C12orf51 283450 genome.wustl.edu 37 12 112620882 112620882 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001109662.2 -1 validated p.F3234 1.000 210 0% 102 39.2% - - - - - NULL C12orf51 283450 genome.wustl.edu 37 12 112623014 112623014 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001109662.2 -1 validated p.T2830 0.000 32 0% 31 38.7% - - - - - NULL C12orf51 283450 genome.wustl.edu 37 12 112684854 112684854 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001109662.2 -1 validated p.S1033Y 1.000 286 0% 172 34.9% - - possibly_damaging(0.494) - - NULL RPH3A 22895 genome.wustl.edu 37 12 113328800 113328800 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143854.1 +1 validated p.F589 1.000 104 0% 93 25.8% - - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) OAS1 4938 genome.wustl.edu 37 12 113357371 113357371 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001032409.1 +1 reviewed p.S373Y 0.000 133 0% 55 36.4% - - unknown(0) deleterious(0) - NULL OAS3 4940 genome.wustl.edu 37 12 113384669 113384669 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006187.2 +1 reviewed p.R253Q 0.735 254 0% 170 40% - - probably_damaging(0.999) tolerated(0.11) deleterious(0.762) HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain OAS2 4939 genome.wustl.edu 37 12 113425081 113425081 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016817.2 +1 reviewed p.S139Y 0.000 194 0% 86 15.1% - - possibly_damaging(0.716) deleterious(0.01) deleterious(0.665) superfamily_Nucleotidyltransferase OAS2 4939 genome.wustl.edu 37 12 113444346 113444346 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016817.2 +1 reviewed p.R533C 0.000 149 0% 84 39.3% - - possibly_damaging(0.72) deleterious(0.03) deleterious(0.625) HMMPfam_OAS1_C,superfamily_Nucleotidyltransferase DTX1 1840 genome.wustl.edu 37 12 113515390 113515390 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004416.2 +1 reviewed p.D141N 1.000 55 0% 33 21.2% - - probably_damaging(0.99) tolerated(0.17) deleterious(0.500) HMMPfam_WWE,HMMSmart_WWE SDS 10993 genome.wustl.edu 37 12 113836590 113836590 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006843.2 -1 reviewed p.I85 0.396 58 0% 35 34.3% - - - - - HMMPfam_PALP,superfamily_PyrdxlP-dep_enz_bsu TBX5 6910 genome.wustl.edu 37 12 114804186 114804186 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000192.3 -1 reviewed p.P256S 1.000 91 0% 64 21.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TBX5 6910 genome.wustl.edu 37 12 114841665 114841665 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000192.3 -1 reviewed p.T13 0.703 37 0% 42 40.5% - - - - - NULL MED13L 23389 genome.wustl.edu 37 12 116429527 116429527 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015335.3 -1 validated p.D1078N 1.000 199 0% 94 31.9% - - possibly_damaging(0.888) deleterious(0.04) deleterious(0.696) NULL MED13L 23389 genome.wustl.edu 37 12 116440852 116440852 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015335.3 -1 validated p.R842Q 1.000 308 0% 189 37.6% - - probably_damaging(0.997) tolerated(0.08) deleterious(0.766) NULL FBXO21 23014 genome.wustl.edu 37 12 117612498 117612498 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033624.2 -1 reviewed p.R233W 0.962 200 0% 91 15.4% - - probably_damaging(0.989) deleterious(0.04) deleterious(0.788) superfamily_F-box domain NOS1 4842 genome.wustl.edu 37 12 117718543 117718543 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000620.2 -1 reviewed p.V504A 1.000 104 0% 54 33.3% - - possibly_damaging(0.826) deleterious(0.04) deleterious(0.662) HMMPfam_NO_synthase,superfamily_Nitric oxide (NO) synthase oxygenase domain NOS1 4842 genome.wustl.edu 37 12 117718592 117718592 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000620.2 -1 reviewed p.A488T 1.000 93 0% 81 30.9% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_NO_synthase,superfamily_Nitric oxide (NO) synthase oxygenase domain RFC5 5985 genome.wustl.edu 37 12 118457528 118457528 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007370.4 +1 reviewed p.A74 0.169 168 0% 112 28.6% - - - - - HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 RFC5 5985 genome.wustl.edu 37 12 118464802 118464802 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007370.4 +1 reviewed p.D258Y 1.000 135 0% 65 16.9% - - possibly_damaging(0.776) deleterious(0) deleterious(0.734) superfamily_Pol_clamp_load_C,HMMPfam_Rep_fac_C SUDS3 64426 genome.wustl.edu 37 12 118838523 118838523 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022491.2 +1 validated p.V193I 1.000 197 0% 83 27.7% - - benign(0.425) tolerated(0.14) neutral(0.388) HMMPfam_Sds3 CCDC60 160777 genome.wustl.edu 37 12 119773056 119773056 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178499.3 +1 validated p.S25 0.007 105 0% 48 43.8% - - - - - NULL PRKAB1 5564 genome.wustl.edu 37 12 120111817 120111817 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006253.4 +1 reviewed p.Q124H 1.000 269 0% 167 33.5% - - benign(0.11) deleterious(0) neutral(0.453) NULL PRKAB1 5564 genome.wustl.edu 37 12 120114410 120114410 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006253.4 +1 reviewed p.R201W 1.000 512 0% 268 34.7% - - possibly_damaging(0.76) deleterious(0) deleterious(0.726) HMMPfam_AMPKBI CIT 11113 genome.wustl.edu 37 12 120139558 120139558 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007174.1 -1 validated e41-1 1.000 342 0% 179 35.8% - - - - - - CIT 11113 genome.wustl.edu 37 12 120142174 120142174 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007174.1 -1 validated p.I1724 0.477 502 0% 280 35% - - - - - HMMPfam_CNH,HMMSmart_SM00036 CIT 11113 genome.wustl.edu 37 12 120270653 120270653 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007174.1 -1 validated p.E225D 1.000 337 0% 160 36.9% - - possibly_damaging(0.472) deleterious(0.03) deleterious(0.520) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PXN 5829 genome.wustl.edu 37 12 120650156 120650156 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080855.1 -1 validated p.K579 1.000 201 0% 121 43.8% - - - - - HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) SIRT4 23409 genome.wustl.edu 37 12 120750737 120750737 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012240.1 +1 reviewed p.P281 0.002 251 0% 189 39.7% - - - - - superfamily_SSF52467 ANAPC5 51433 genome.wustl.edu 37 12 121758186 121758186 + Splice_Site SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016237.4 -1 reviewed e12+2 1.000 137 0% 67 25.4% - - - - - - ANAPC5 51433 genome.wustl.edu 37 12 121783822 121783822 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016237.4 -1 reviewed p.R137H 1.000 369 0% 239 41.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KDM2B 84678 genome.wustl.edu 37 12 121868162 121868162 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032590.4 -1 reviewed p.F1314L 1.000 302 0% 196 39.3% - - possibly_damaging(0.888) tolerated(0.09) deleterious(0.644) HMMSmart_SM00367,superfamily_RNI-like KDM2B 84678 genome.wustl.edu 37 12 121878655 121878655 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032590.4 -1 reviewed p.R1192W 1.000 52 0% 30 30% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00367,superfamily_RNI-like ORAI1 84876 genome.wustl.edu 37 12 122064774 122064779 + In_Frame_Del DEL CCGCCA CCGCCA - rs141919534 byCluster;by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 CCGCCA CCGCCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032790.3 +1 reviewed p.PP46in_frame_del 0.716:0.710:0.709:0.897:0.997:0.999 - - - - - - - - - NULL TMEM120B 144404 genome.wustl.edu 37 12 122213003 122213003 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080825.2 +1 validated p.E291D 0.997 59 0% 46 21.7% - - benign(0.01) tolerated(0.38) neutral(0.018) HMMPfam_TMPIT SETD1B 23067 genome.wustl.edu 37 12 122252609 122252609 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015048.1 +1 validated p.R830C 0.838 69 0% 38 39.5% - - unknown(0) - - NULL WDR66 144406 genome.wustl.edu 37 12 122398591 122398591 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144668.4 +1 validated p.R745Q 0.002 279 0.4% 149 41.6% - - benign(0.058) tolerated(0.65) neutral(0.007) HMMSmart_SM00320,superfamily_WD40 repeat-like VPS33A 65082 genome.wustl.edu 37 12 122723216 122723216 + Nonsense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022916.4 -1 validated p.L407* 0.994 232 0% 109 22.9% - - - - - HMMPfam_Sec1,superfamily_Sec1-like CLIP1 6249 genome.wustl.edu 37 12 122763691 122763691 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002956.2 -1 validated p.E1206* 1.000 262 0% 129 48.8% - - - - - NULL CLIP1 6249 genome.wustl.edu 37 12 122801387 122801387 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002956.2 -1 validated p.E1117* 1.000 384 0% 181 39.2% - - - - - NULL KNTC1 9735 genome.wustl.edu 37 12 123055635 123055635 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014708.4 +1 reviewed p.E661K 0.001 287 0% 181 40.9% - - unknown(0) tolerated(0.78) - NULL KNTC1 9735 genome.wustl.edu 37 12 123057706 123057706 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014708.4 +1 reviewed p.I719 0.916 400 0% 239 40.2% - - - - - NULL KNTC1 9735 genome.wustl.edu 37 12 123057714 123057714 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014708.4 +1 reviewed p.R722Q 1.000 409 0% 251 29.9% - - unknown(0) tolerated(0.16) - NULL KNTC1 9735 genome.wustl.edu 37 12 123087284 123087284 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014708.4 +1 reviewed p.L1608I 0.987 409 0% 252 31.3% - - benign(0.003) tolerated(1) - HMMPfam_Rod_C KNTC1 9735 genome.wustl.edu 37 12 123107038 123107038 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014708.4 +1 reviewed p.I2133 0.988 153 0% 75 14.7% - - - - - NULL HCAR2 338442 genome.wustl.edu 37 12 123187037 123187037 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_177551.3 -1 validated p.N265T 0.014 292 0% 169 37.3% - - benign(0.018) tolerated(0.73) neutral(0.002) HMMPfam_7tm_1,superfamily_SSF81321 CCDC62 84660 genome.wustl.edu 37 12 123281894 123281894 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_201435.3 +1 validated p.A271 0.840 230 0% 101 25.7% - - - - - NULL CCDC62 84660 genome.wustl.edu 37 12 123285717 123285717 + Missense_Mutation SNP G G A rs188186254 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_201435.3 +1 validated p.D342N 0.096 180 0.6% 93 34.4% - - benign(0.002) deleterious(0) neutral(0.445) NULL PITPNM2 57605 genome.wustl.edu 37 12 123479487 123479487 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020845.2 -1 validated p.R698 0.994 49 0% 27 51.9% - - - - - NULL PITPNM2 57605 genome.wustl.edu 37 12 123488954 123488954 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020845.2 -1 validated p.F345L 1.000 109 0% 77 39% - - possibly_damaging(0.676) deleterious(0) deleterious(0.685) NULL MPHOSPH9 10198 genome.wustl.edu 37 12 123648624 123648624 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022782.2 -1 validated p.Q775H 0.001 307 0% 117 34.2% - - possibly_damaging(0.926) deleterious(0.02) deleterious(0.758) NULL MPHOSPH9 10198 genome.wustl.edu 37 12 123686721 123686721 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022782.2 -1 validated p.L491I 0.998 174 0% 124 21% - - possibly_damaging(0.938) tolerated(0.05) deleterious(0.729) NULL MPHOSPH9 10198 genome.wustl.edu 37 12 123687557 123687557 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022782.2 -1 validated p.P313 0.000 188 0% 96 33.3% - - - - - NULL SBNO1 55206 genome.wustl.edu 37 12 123794080 123794080 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018183.3 -1 validated p.L1164M 1.000 217 0% 140 30.7% - - possibly_damaging(0.595) tolerated(0.17) neutral(0.265) NULL GTF2H3 2967 genome.wustl.edu 37 12 124132651 124132651 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001516.3 +1 provisional p.E114D 1.000 112 0.9% 62 11.3% - - possibly_damaging(0.866) tolerated(0.3) neutral(0.364) HMMPfam_Tfb4 DNAH10 196385 genome.wustl.edu 37 12 124311257 124311257 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207437.3 +1 validated p.Q1283 1.000 241 0% 132 40.9% - - - - - HMMPfam_DHC_N2 DNAH10 196385 genome.wustl.edu 37 12 124315193 124315193 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207437.3 +1 validated p.D1380N 0.887 183 0% 91 40.7% - - benign(0.017) tolerated(0.31) neutral(0.028) HMMPfam_DHC_N2 DNAH10 196385 genome.wustl.edu 37 12 124333344 124333344 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207437.3 +1 validated p.R1888Q 1.000 471 0% 283 37.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH10 196385 genome.wustl.edu 37 12 124345601 124345601 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207437.3 +1 validated p.A2146 0.002 163 0% 76 46.1% - - - - - HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH10 196385 genome.wustl.edu 37 12 124398942 124398942 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207437.3 +1 validated p.C3355 0.003 71 0% 55 40% - - - - - NULL DNAH10 196385 genome.wustl.edu 37 12 124401100 124401100 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207437.3 +1 validated p.D3489N 1.000 274 0% 147 36.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NCOR2 9612 genome.wustl.edu 37 12 124907083 124907083 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006312.3 -1 validated p.K449N 1.000 152 0% 88 31.8% - - unknown(0) deleterious(0) - HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding UBC 7316 genome.wustl.edu 37 12 125396635 125396635 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021009.4 -1 validated p.K561N 1.000 787 0% 484 20.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ubiquitin,HMMSmart_SM00213,PatternScan_UBIQUITIN_1,superfamily_Ubiquitin-like TMEM132B 114795 genome.wustl.edu 37 12 126004006 126004006 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052907.2 +1 provisional p.E371D 1.000 387 0% 137 38% - - possibly_damaging(0.933) deleterious(0.03) deleterious(0.744) NULL TMEM132C 92293 genome.wustl.edu 37 12 128899899 128899899 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136103.2 +1 provisional p.N124 0.006 96 0% 53 30.2% - - - - - NULL TMEM132C 92293 genome.wustl.edu 37 12 129190089 129190089 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136103.2 +1 provisional p.T747M 0.994 13 0% 10 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC15A4 121260 genome.wustl.edu 37 12 129299465 129299465 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145648.3 -1 validated p.V233I 1.000 243 0% 142 31% - - benign(0.001) tolerated(0.77) neutral(0.001) HMMPfam_PTR2,superfamily_MFS general substrate transporter TMEM132D 121256 genome.wustl.edu 37 12 129559341 129559341 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133448.2 -1 validated p.I793 0.811 342 0.6% 257 37% - - - - - NULL PIWIL1 9271 genome.wustl.edu 37 12 130840102 130840102 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004764.3 +1 reviewed p.D432N 0.997 286 0% 164 33.5% - - benign(0.022) tolerated(0.45) neutral(0.013) NULL PIWIL1 9271 genome.wustl.edu 37 12 130840189 130840189 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004764.3 +1 reviewed p.K461Q 1.000 355 0% 192 39.1% - - benign(0.197) deleterious(0.03) neutral(0.383) NULL PIWIL1 9271 genome.wustl.edu 37 12 130855795 130855795 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004764.3 +1 reviewed p.D799G 1.000 352 0% 214 35% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Piwi,superfamily_Ribonuclease H-like RIMBP2 23504 genome.wustl.edu 37 12 130934792 130934792 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015347.4 -1 validated p.S161 0.998 396 0% 217 35.5% - - - - - superfamily_SH3-domain STX2 2054 genome.wustl.edu 37 12 131285745 131285745 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194356.1 -1 reviewed p.E210K 1.000 282 0% 121 36.4% - - probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_SNARE,HMMSmart_SM00397,PatternScan_SYNTAXIN,superfamily_t-snare proteins GPR133 283383 genome.wustl.edu 37 12 131471728 131471728 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198827.3 +1 validated p.P193 0.000 187 0% 119 36.1% - - - - - superfamily_Concanavalin A-like lectins/glucanases ULK1 8408 genome.wustl.edu 37 12 132401034 132401034 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003565.2 +1 validated p.R657Q 1.000 58 0% 67 17.9% - - probably_damaging(0.999) tolerated(0.11) deleterious(0.762) NULL EP400 57634 genome.wustl.edu 37 12 132502776 132502776 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015409.3 +1 validated p.D1377Y 1.000 90 0% 27 33.3% - - unknown(0) - - NULL EP400 57634 genome.wustl.edu 37 12 132514442 132514442 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015409.3 +1 validated p.D1859N 1.000 90 0% 107 31.8% - - unknown(0) - - superfamily_SSF52540 EP400 57634 genome.wustl.edu 37 12 132554161 132554161 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015409.3 +1 validated p.A2998V 0.788 92 0% 54 35.2% - - benign(0.168) - - NULL EP400NL 347918 genome.wustl.edu 37 12 132588863 132588863 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000376625 +1 known p.R100W 0.997 107 0% 68 30.9% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL DDX51 317781 genome.wustl.edu 37 12 132624710 132624710 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175066.3 -1 validated p.D570N 1.000 28 0% 26 38.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 NOC4L 79050 genome.wustl.edu 37 12 132630149 132630149 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024078.1 +1 provisional p.R95H 0.927 131 0% 79 43% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL FBRSL1 57666 genome.wustl.edu 37 12 133102361 133102361 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142641.1 +1 validated p.D177 0.006 29 0% 32 56.2% - - - - - NULL P2RX2 22953 genome.wustl.edu 37 12 133196269 133196269 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_170683.2 +1 reviewed p.G105D 1.000 21 0% 17 52.9% - - probably_damaging(0.984) tolerated(0.91) neutral(0.430) HMMPfam_P2X_receptor POLE 5426 genome.wustl.edu 37 12 133219452 133219452 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006231.2 -1 validated p.L1561P 1.000 230 0% 117 25.6% - - benign(0) tolerated(0.22) neutral(0.042) HMMPfam_DUF1744 POLE 5426 genome.wustl.edu 37 12 133225525 133225525 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006231.2 -1 validated p.S1380L 0.457 70 0% 47 34% - - benign(0) tolerated(0.32) neutral(0.024) NULL POLE 5426 genome.wustl.edu 37 12 133253184 133253184 + Missense_Mutation SNP G G C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006231.2 -1 validated p.P286R 1.000 236 0% 115 34.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,superfamily_RNaseH_fold ANKLE2 23141 genome.wustl.edu 37 12 133306773 133306773 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015114.1 -1 validated p.R659* 0.692 43 0% 26 34.6% - - - - - NULL ANKLE2 23141 genome.wustl.edu 37 12 133324430 133324430 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015114.1 -1 validated p.T406 0.017 187 0% 127 43.3% - - - - - superfamily_Ankyrin repeat GOLGA3 2802 genome.wustl.edu 37 12 133393232 133393232 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005895.3 -1 reviewed p.F100 1.000 138 0% 97 38.1% - - - - - NULL ZNF10 7556 genome.wustl.edu 37 12 133733358 133733358 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015394.4 +1 reviewed p.R509K 0.905 194 0% 112 32.1% - - benign(0.108) tolerated(0.1) neutral(0.295) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC729535 729535 genome.wustl.edu 37 13 19271433 19271433 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001130539.3 +1 model p.E109K 0.077 47 0% 40 45% - - - - - NULL MPHOSPH8 54737 genome.wustl.edu 37 13 20220649 20220649 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017520.3 +1 validated p.E146* 1.000 61 0% 34 38.2% - - - - - NULL MPHOSPH8 54737 genome.wustl.edu 37 13 20233159 20233159 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017520.3 +1 validated p.L534S 1.000 458 0% 242 38% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ankyrin repeat MPHOSPH8 54737 genome.wustl.edu 37 13 20240600 20240600 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017520.3 +1 validated p.L685 0.553 182 0% 98 39.8% - - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ZMYM5 9205 genome.wustl.edu 37 13 20399047 20399047 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142684.1 -1 validated p.R527Q 0.767 151 0.7% 93 34.4% - - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL ZMYM2 7750 genome.wustl.edu 37 13 20577182 20577182 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003453.2 +1 validated p.R347Q 0.998 378 0.3% 176 40.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-FCS,HMMSmart_TRASH GJA3 2700 genome.wustl.edu 37 13 20716331 20716331 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021954.3 -1 reviewed p.A366V 0.000 30 0% 15 53.3% - - benign(0.191) tolerated(0.29) neutral(0.047) NULL GJA3 2700 genome.wustl.edu 37 13 20717243 20717243 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021954.3 -1 reviewed p.E62G 1.000 309 0% 190 32.6% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1 LATS2 26524 genome.wustl.edu 37 13 21549161 21549161 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014572.2 -1 reviewed p.E1039K 1.000 463 0.2% 282 32.3% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMSmart_S_TK_X,HMMPfam_Pkinase_C LATS2 26524 genome.wustl.edu 37 13 21549231 21549231 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014572.2 -1 reviewed p.S1015 0.765 580 0% 340 35.6% - - - - - HMMSmart_S_TK_X,HMMPfam_Pkinase_C SKA3 221150 genome.wustl.edu 37 13 21732080 21732080 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000314759 -1 known p.I367S 0.989 253 0% 146 17.8% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SKA3 221150 genome.wustl.edu 37 13 21742142 21742142 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000314759 -1 known p.A243V 0.019 456 0% 270 25.9% - - benign(0) tolerated(1) - NULL SKA3 221150 genome.wustl.edu 37 13 21746612 21746612 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000314759 -1 known p.R66I 0.412 269 0% 127 27.6% - - possibly_damaging(0.462) tolerated(0.2) neutral(0.201) NULL ZDHHC20 253832 genome.wustl.edu 37 13 21987895 21987895 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153251.2 -1 provisional p.S89Y 0.997 428 0% 196 11.7% - - possibly_damaging(0.753) deleterious(0.01) deleterious(0.682) NULL EFHA1 221154 genome.wustl.edu 37 13 22084147 22084147 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152726.2 -1 validated p.R253* 1.000 117 0% 48 56.2% - - - - - superfamily_SSF47473 FGF9 2254 genome.wustl.edu 37 13 22275367 22275367 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002010.2 +1 reviewed p.F140 1.000 204 0% 84 28.6% - - - - - HMMPfam_FGF,HMMSmart_SM00442,PatternScan_HBGF_FGF,superfamily_Cytokine ENSG00000253094 0 genome.wustl.edu 37 13 23377292 23377292 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000517285 +1 novel NULL 0.004 47 0% 16 43.8% - - - - - - SGCG 6445 genome.wustl.edu 37 13 23808807 23808807 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000231.2 +1 reviewed p.E85K 0.998 227 0% 95 33.7% - - possibly_damaging(0.911) tolerated(0.27) neutral(0.396) HMMPfam_Sarcoglycan_1 SGCG 6445 genome.wustl.edu 37 13 23824778 23824778 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000231.2 +1 reviewed p.L103M 1.000 313 0% 192 12% - - possibly_damaging(0.889) deleterious(0.01) deleterious(0.755) HMMPfam_Sarcoglycan_1 SGCG 6445 genome.wustl.edu 37 13 23824855 23824855 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000231.2 +1 reviewed p.V128 0.999 304 0% 171 36.3% - - - - - HMMPfam_Sarcoglycan_1 SACS 26278 genome.wustl.edu 37 13 23906318 23906318 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014363.4 -1 reviewed p.L3899 0.800 189 0% 113 30.1% - - - - - NULL SACS 26278 genome.wustl.edu 37 13 23907648 23907648 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014363.4 -1 reviewed p.K3456T 0.972 270 0% 174 12.1% - - benign(0.032) tolerated(0.64) neutral(0.005) NULL SACS 26278 genome.wustl.edu 37 13 23909298 23909298 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014363.4 -1 reviewed p.R2906Q 0.991 277 0% 135 32.6% - - probably_damaging(0.988) deleterious(0.02) deleterious(0.821) NULL SACS 26278 genome.wustl.edu 37 13 23912385 23912385 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014363.4 -1 reviewed p.R1877Q 0.998 239 0% 173 31.2% - - probably_damaging(0.996) tolerated(0.38) deleterious(0.479) NULL SACS 26278 genome.wustl.edu 37 13 23913743 23913743 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014363.4 -1 reviewed p.E1424 0.998 588 0% 321 43.3% - - - - - NULL SACS 26278 genome.wustl.edu 37 13 23915259 23915259 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014363.4 -1 reviewed p.R919I 1.000 307 0% 155 34.8% - - benign(0.038) tolerated(0.11) neutral(0.274) NULL MIPEP 4285 genome.wustl.edu 37 13 24410407 24410407 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005932.2 -1 reviewed p.Q542P 0.999 208 0.5% 105 36.2% - - benign(0.011) tolerated(0.27) neutral(0.034) HMMPfam_Peptidase_M3,superfamily_SSF55486 SPATA13 221178 genome.wustl.edu 37 13 24876764 24876764 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000424834 +1 known p.A1267T 0.174 97 1% 102 44.1% - - unknown(0) deleterious(0.01) - NULL C1QTNF9 338872 genome.wustl.edu 37 13 24895133 24895133 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178540.3 +1 validated e3-1 0.996 236 0% 105 41.9% - - - - - - RNF17 56163 genome.wustl.edu 37 13 25370331 25370331 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031277.2 +1 reviewed p.R433W 1.000 361 0% 173 23.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TUDOR RNF17 56163 genome.wustl.edu 37 13 25444872 25444872 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031277.2 +1 reviewed p.R1481I 0.922 223 0% 92 40.2% - - probably_damaging(0.965) tolerated(0.17) neutral(0.466) HMMSmart_SM00333,HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT CENPJ 55835 genome.wustl.edu 37 13 25473675 25473675 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018451.3 -1 reviewed p.R958Q 1.000 417 0% 205 30.7% - - benign(0.106) tolerated(0.51) neutral(0.017) NULL CENPJ 55835 genome.wustl.edu 37 13 25473676 25473676 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018451.3 -1 reviewed p.R958* 1.000 416 0.2% 205 37.1% - - - - - NULL CENPJ 55835 genome.wustl.edu 37 13 25486941 25486941 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018451.3 -1 reviewed p.L75I 1.000 644 0.2% 295 38% - - benign(0.002) tolerated(0.32) neutral(0.024) NULL FAM123A 219287 genome.wustl.edu 37 13 25744289 25744289 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152704.2 -1 validated p.R490H 0.982 63 0% 49 30.6% - - probably_damaging(0.999) tolerated(0.24) deleterious(0.528) HMMPfam_WTX MTMR6 9107 genome.wustl.edu 37 13 25848237 25848237 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004685.3 -1 validated p.F38C 1.000 324 0% 200 35% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_PH domain-like NUPL1 9818 genome.wustl.edu 37 13 25905590 25905590 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014089.3 +1 reviewed p.Q443 1.000 284 0% 132 34.1% - - - - - NULL ATP8A2 51761 genome.wustl.edu 37 13 26127988 26127988 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016529.4 +1 validated p.N372T 1.000 430 0% 242 31% - - possibly_damaging(0.943) tolerated(0.26) neutral(0.421) NULL ATP8A2 51761 genome.wustl.edu 37 13 26413696 26413696 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016529.4 +1 validated p.H964N 1.000 473 0% 260 36.9% - - possibly_damaging(0.805) deleterious(0) deleterious(0.748) NULL WASF3 10810 genome.wustl.edu 37 13 27246118 27246118 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006646.5 +1 reviewed p.R178C 0.998 377 0% 98 33.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MTIF3 219402 genome.wustl.edu 37 13 28014221 28014221 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152912.4 -1 reviewed p.S122N 0.000 238 0% 167 39.5% - - benign(0.002) tolerated(0.86) neutral(0.001) HMMPfam_IF3_N,superfamily_Translation initiation factor IF3 N-terminal domain LNX2 222484 genome.wustl.edu 37 13 28143390 28143390 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153371.3 -1 validated p.R144K 1.000 311 0.3% 183 25.7% - - benign(0.006) tolerated(0.91) - NULL GSX1 219409 genome.wustl.edu 37 13 28367824 28367824 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145657.1 +1 provisional p.I178 1.000 92 0% 62 33.9% - - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like FLT3 2322 genome.wustl.edu 37 13 28578280 28578280 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004119.2 -1 reviewed p.E964A 0.008 219 0% 97 38.1% - - benign(0.01) tolerated(0.36) neutral(0.021) NULL FLT3 2322 genome.wustl.edu 37 13 28589298 28589298 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004119.2 -1 reviewed p.E917* 1.000 229 0% 108 32.4% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like FLT3 2322 genome.wustl.edu 37 13 28622457 28622457 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004119.2 -1 reviewed p.R387Q 0.004 440 0.2% 231 30.3% - - benign(0) tolerated(0.75) neutral(0.002) NULL FLT3 2322 genome.wustl.edu 37 13 28623642 28623642 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004119.2 -1 reviewed p.T305 0.134 252 0% 152 38.2% - - - - - HMMPfam_ig,superfamily_SSF48726 POMP 51371 genome.wustl.edu 37 13 29252186 29252186 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015932.4 +1 validated p.E125K 1.000 515 0% 259 41.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UMP1 SLC46A3 283537 genome.wustl.edu 37 13 29275094 29275094 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135919.1 -1 validated e6-1 0.146 183 0% 62 16.1% - - - - - - SLC46A3 283537 genome.wustl.edu 37 13 29286954 29286954 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135919.1 -1 validated p.F308C 0.969 265 0% 111 30.6% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter MTUS2 23281 genome.wustl.edu 37 13 29600457 29600457 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001033602.2 +1 validated p.T551N 0.576 223 0% 158 13.3% - - benign(0.116) deleterious(0) neutral(0.454) NULL SLC7A1 6541 genome.wustl.edu 37 13 30098339 30098339 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003045.4 -1 validated p.F252L 0.195 99 0% 49 49% - - benign(0.003) tolerated(0.41) neutral(0.015) HMMPfam_AA_permease SLC7A1 6541 genome.wustl.edu 37 13 30106997 30106997 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003045.4 -1 validated p.D165N 1.000 256 0.4% 137 46% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL KATNAL1 84056 genome.wustl.edu 37 13 30814610 30814610 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001014380.1 -1 validated p.R238I 1.000 337 0% 212 15.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases HMGB1 3146 genome.wustl.edu 37 13 31035654 31035654 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002128.4 -1 validated p.R163Q 1.000 544 0% 289 35.3% - - possibly_damaging(0.95) deleterious(0.01) deleterious(0.799) HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box TEX26 122046 genome.wustl.edu 37 13 31549009 31549009 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152325.1 +1 predicted p.R279C 0.149 397 0% 181 32.6% - - benign(0.003) deleterious(0.02) neutral(0.383) NULL HSPH1 10808 genome.wustl.edu 37 13 31711477 31711477 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006644.2 -1 validated p.S852Y 0.077 495 0.2% 233 31.8% - - benign(0.296) deleterious(0.03) neutral(0.456) NULL HSPH1 10808 genome.wustl.edu 37 13 31725128 31725128 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006644.2 -1 validated p.I288 0.972 393 0% 228 35.5% - - - - - HMMPfam_HSP70,superfamily_Actin-like ATPase domain FRY 10129 genome.wustl.edu 37 13 32709071 32709071 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023037.2 +1 validated p.D306Y 1.000 371 0.3% 168 29.8% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL FRY 10129 genome.wustl.edu 37 13 32753060 32753060 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023037.2 +1 validated p.L921I 1.000 275 0% 115 40.9% - - possibly_damaging(0.5) tolerated(0.09) neutral(0.464) NULL FRY 10129 genome.wustl.edu 37 13 32759117 32759117 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023037.2 +1 validated p.N1051H 1.000 230 0% 119 34.5% - - possibly_damaging(0.938) deleterious(0.02) deleterious(0.766) NULL FRY 10129 genome.wustl.edu 37 13 32808878 32808878 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023037.2 +1 validated p.E1899* 1.000 214 0% 131 31.3% - - - - - NULL FRY 10129 genome.wustl.edu 37 13 32821635 32821635 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023037.2 +1 validated p.S2335L 1.000 277 0.4% 144 40.3% - - benign(0.199) deleterious(0) neutral(0.464) NULL FRY 10129 genome.wustl.edu 37 13 32868670 32868670 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023037.2 +1 validated p.E2916K 0.999 154 0% 97 33% - - benign(0.036) deleterious(0.03) neutral(0.366) NULL FRY 10129 genome.wustl.edu 37 13 32869475 32869475 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023037.2 +1 validated p.E2974K 0.937 212 0% 157 40.1% - - possibly_damaging(0.465) tolerated(0.1) neutral(0.440) NULL BRCA2 675 genome.wustl.edu 37 13 32912540 32912540 + Missense_Mutation SNP C C A rs80359422 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000059.3 +1 reviewed p.H1350N 0.002 115 0% 44 31.8% - - probably_damaging(0.956) tolerated(0.7) neutral(0.402) NULL BRCA2 675 genome.wustl.edu 37 13 32912813 32912813 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000059.3 +1 reviewed p.E1441* 0.998 83 0% 54 29.6% - - - - - HMMPfam_BRCA2 N4BP2L2 10443 genome.wustl.edu 37 13 33110955 33110955 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014887.2 -1 validated p.E70D 0.006 321 0% 183 32.2% - - possibly_damaging(0.489) deleterious(0.02) deleterious(0.545) NULL LOC122038 122038 genome.wustl.edu 37 13 33528348 33528348 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_040920.1 -1 model NULL 1.000 44 0% 28 32.1% - - - - - - KL 9365 genome.wustl.edu 37 13 33635569 33635569 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004795.3 +1 reviewed p.L785I 0.008 245 0% 140 36.4% - - benign(0.335) tolerated(0.29) neutral(0.135) HMMPfam_Glyco_hydro_1,superfamily_(Trans)glycosidases NBEA 26960 genome.wustl.edu 37 13 36245087 36245087 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015678.4 +1 validated p.D2934Y 1.000 378 0% 166 30.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like DCLK1 9201 genome.wustl.edu 37 13 36686206 36686206 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004734.3 -1 validated p.E175K 0.998 121 0% 87 25.3% - - benign(0.001) tolerated(0.61) neutral(0.004) superfamily_SSF89837 SOHLH2 54937 genome.wustl.edu 37 13 36748698 36748698 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017826.2 -1 validated p.E266K 0.887 563 0% 309 37.9% - - possibly_damaging(0.615) deleterious(0.02) deleterious(0.597) NULL CCDC169 728591 genome.wustl.edu 37 13 36805371 36805371 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144981.1 -1 validated p.K202Q 0.979 913 0% 443 39.1% - - probably_damaging(0.98) deleterious(0.03) deleterious(0.788) NULL SPG20 23111 genome.wustl.edu 37 13 36886510 36886510 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142294.1 -1 reviewed p.D530Y 1.000 282 0% 159 39.6% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL SPG20 23111 genome.wustl.edu 37 13 36909305 36909305 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142294.1 -1 reviewed p.L221F 1.000 103 0% 48 31.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CCNA1 8900 genome.wustl.edu 37 13 37012842 37012842 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003914.3 +1 reviewed p.R244H 1.000 383 0% 185 37.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cyclin_N,PatternScan_CYCLINS,superfamily_Cyclin-like SMAD9 4093 genome.wustl.edu 37 13 37439740 37439740 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127217.2 -1 reviewed p.L313I 1.000 237 0% 137 27% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_MH2,HMMSmart_SM00524,superfamily_SMAD/FHA domain POSTN 10631 genome.wustl.edu 37 13 38166266 38166266 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006475.2 -1 validated p.R85I 1.000 373 0% 161 29.8% - - possibly_damaging(0.649) deleterious(0) deleterious(0.672) superfamily_FAS1 domain,HMMPfam_EMI TRPC4 7223 genome.wustl.edu 37 13 38211379 38211379 + Missense_Mutation SNP G G T rs146885289 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003306.1 -1 validated p.F870L 1.000 265 0% 174 39.1% - - possibly_damaging(0.686) deleterious(0.04) deleterious(0.594) NULL TRPC4 7223 genome.wustl.edu 37 13 38213186 38213186 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003306.1 -1 validated p.E739D 1.000 496 0% 330 32.1% - - possibly_damaging(0.685) tolerated(1) neutral(0.244) NULL TRPC4 7223 genome.wustl.edu 37 13 38266229 38266229 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003306.1 -1 validated p.L381 1.000 305 0% 140 37.9% - - - - - NULL TRPC4 7223 genome.wustl.edu 37 13 38357324 38357324 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003306.1 -1 validated p.K49N 1.000 192 0% 126 40.5% - - benign(0.033) tolerated(0.05) neutral(0.347) superfamily_ANK FREM2 341640 genome.wustl.edu 37 13 39424215 39424215 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207361.4 +1 reviewed p.S2140 0.831 313 0% 117 34.2% - - - - - HMMPfam_Calx-beta,HMMSmart_SM00237 STOML3 161003 genome.wustl.edu 37 13 39542668 39542668 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145286.2 -1 validated p.L174 0.770 102 0% 67 32.8% - - - - - HMMPfam_Band_7,HMMSmart_PHB,PatternScan_BAND_7 STOML3 161003 genome.wustl.edu 37 13 39564832 39564832 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145286.2 -1 validated p.E9D 1.000 464 0% 221 42.5% - - benign(0) tolerated(0.28) neutral(0.032) NULL PROSER1 80209 genome.wustl.edu 37 13 39586855 39586855 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025138.3 -1 validated p.F845C 1.000 286 0% 171 20.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PROSER1 80209 genome.wustl.edu 37 13 39591665 39591665 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025138.3 -1 validated p.S249 0.818 183 0% 100 35% - - - - - NULL COG6 57511 genome.wustl.edu 37 13 40261867 40261867 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020751.2 +1 reviewed p.W314G 1.000 330 0% 137 38% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_COG6 FOXO1 2308 genome.wustl.edu 37 13 41134828 41134828 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002015.3 -1 reviewed p.R267Q 1.000 157 0% 106 41.5% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Fork_head SLC25A15 10166 genome.wustl.edu 37 13 41373333 41373333 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014252.3 +1 reviewed p.G66S 1.000 239 0% 185 25.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr KBTBD6 89890 genome.wustl.edu 37 13 41705201 41705201 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152903.4 -1 validated p.R483* 0.995 109 0% 82 68.3% - - - - - HMMSmart_Kelch,superfamily_Gal_oxid_central KBTBD7 84078 genome.wustl.edu 37 13 41767844 41767844 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032138.4 -1 provisional p.D184N 1.000 187 0% 102 18.6% - - benign(0.373) tolerated(0.76) neutral(0.120) HMMPfam_BACK KBTBD7 84078 genome.wustl.edu 37 13 41768223 41768223 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032138.4 -1 provisional p.Y57 1.000 83 0% 57 56.1% - - - - - superfamily_POZ domain,HMMPfam_BTB NAA16 79612 genome.wustl.edu 37 13 41894814 41894814 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024561.4 +1 validated p.Y86H 1.000 262 0% 131 48.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TPR_2,HMMSmart_SM00028,superfamily_TPR-like NAA16 79612 genome.wustl.edu 37 13 41932585 41932585 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024561.4 +1 validated p.F411L 1.000 185 0% 98 36.7% - - benign(0.047) tolerated(0.34) neutral(0.026) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like KIAA0564 23078 genome.wustl.edu 37 13 42179348 42179348 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015058.1 -1 validated p.R1648W 0.861 256 0% 129 30.2% - - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL KIAA0564 23078 genome.wustl.edu 37 13 42185823 42185823 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015058.1 -1 validated p.R1589Q 1.000 149 0% 145 42.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA0564 23078 genome.wustl.edu 37 13 42460121 42460121 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015058.1 -1 validated p.E304* 1.000 245 0% 85 28.2% - - - - - NULL KIAA0564 23078 genome.wustl.edu 37 13 42524107 42524107 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015058.1 -1 validated p.I69N 0.983 127 0% 50 44% - - benign(0) tolerated(0.49) neutral(0.011) superfamily_P-loop containing nucleoside triphosphate hydrolases DGKH 160851 genome.wustl.edu 37 13 42742661 42742661 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178009.2 +1 reviewed p.D402N 1.000 502 0% 284 33.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DAGK_cat,HMMSmart_SM00046 AKAP11 11215 genome.wustl.edu 37 13 42877036 42877036 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016248.2 +1 reviewed p.K1385T 0.865 149 0% 76 43.4% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL TNFSF11 8600 genome.wustl.edu 37 13 43174929 43174929 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003701.3 +1 reviewed p.E143 0.998 294 0% 126 31% - - - - - NULL EPSTI1 94240 genome.wustl.edu 37 13 43528124 43528124 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001002264.1 -1 validated p.E175* 1.000 707 0% 359 12.8% - - - - - NULL LACC1 144811 genome.wustl.edu 37 13 44456392 44456392 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128303.1 +1 validated p.L212F 1.000 285 0% 140 38.6% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Cu-oxidase_4,superfamily_CNF1/YfiH-like putative cysteine hydrolases LACC1 144811 genome.wustl.edu 37 13 44464275 44464275 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128303.1 +1 validated p.L387F 1.000 214 0% 128 31.2% - - probably_damaging(0.994) deleterious(0.05) deleterious(0.797) HMMPfam_Cu-oxidase_4,superfamily_CNF1/YfiH-like putative cysteine hydrolases KIAA1704 55425 genome.wustl.edu 37 13 45578515 45578515 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018559.2 +1 predicted p.S55Y 0.998 239 0% 117 39.3% - - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL FAM194B 220081 genome.wustl.edu 37 13 46170615 46170615 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182542.2 -1 predicted p.L176I 0.072 756 0% 390 26.7% - - possibly_damaging(0.875) deleterious(0.03) deleterious(0.705) NULL ZC3H13 23091 genome.wustl.edu 37 13 46543638 46543638 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015070.3 -1 validated p.S1014F 1.000 485 0.2% 296 40.9% - - unknown(0) deleterious(0) - NULL CPB2 1361 genome.wustl.edu 37 13 46627896 46627896 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001872.3 -1 reviewed p.D375E 0.995 244 0% 135 34.8% - - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases CPB2 1361 genome.wustl.edu 37 13 46658398 46658398 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001872.3 -1 reviewed p.V77 0.007 388 0% 206 36.9% - - - - - HMMPfam_Propep_M14,superfamily_Protease propeptides/inhibitors KIAA0226L 80183 genome.wustl.edu 37 13 46924411 46924411 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025113.2 -1 validated p.S469L 1.000 129 0% 111 36.9% - - benign(0.103) tolerated(0.1) neutral(0.294) NULL LRCH1 23143 genome.wustl.edu 37 13 47315785 47315785 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015116.2 +1 reviewed p.L663 1.000 297 0% 228 34.6% - - - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain LRCH1 23143 genome.wustl.edu 37 13 47324716 47324716 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000311191 +1 known p.G674 1.000 273 0% 157 32.5% - - - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain HTR2A 3356 genome.wustl.edu 37 13 47409526 47409526 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000621.3 -1 reviewed p.S288P 1.000 173 0% 92 32.6% - - probably_damaging(0.976) tolerated(0.08) deleterious(0.718) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SUCLA2 8803 genome.wustl.edu 37 13 48563108 48563108 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003850.2 -1 reviewed p.D94Y 1.000 201 0% 89 19.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ATP-grasp_2,superfamily_Glutathione synthetase ATP-binding domain-like RB1 5925 genome.wustl.edu 37 13 48951075 48951075 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000321.2 +1 reviewed p.E413* 0.999 306 0.3% 127 37% - - - - - HMMPfam_RB_A,superfamily_Cyclin-like RB1 5925 genome.wustl.edu 37 13 48955517 48955517 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000321.2 +1 reviewed p.E545* 1.000 180 0% 100 27% - - - - - HMMPfam_RB_A,superfamily_Cyclin-like CDADC1 81602 genome.wustl.edu 37 13 49841800 49841800 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030911.2 +1 validated p.F202S 1.000 272 0% 107 37.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cytidine deaminase-like CDADC1 81602 genome.wustl.edu 37 13 49842068 49842068 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030911.2 +1 validated p.P291 1.000 160 0.6% 71 39.4% - - - - - NULL CDADC1 81602 genome.wustl.edu 37 13 49865882 49865882 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030911.2 +1 validated p.G512R 0.191 190 0% 98 41.8% - - possibly_damaging(0.869) deleterious(0) deleterious(0.782) NULL CAB39L 81617 genome.wustl.edu 37 13 49924992 49924992 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079670.1 -1 validated p.R151Q 1.000 187 0% 98 31.6% - - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMPfam_Mo25,superfamily_ARM-type_fold CAB39L 81617 genome.wustl.edu 37 13 49933933 49933933 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079670.1 -1 validated p.I104 1.000 283 0% 134 33.6% - - - - - HMMPfam_Mo25,superfamily_ARM-type_fold SETDB2 83852 genome.wustl.edu 37 13 50050985 50050985 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031915.2 +1 validated p.E239* 0.999 251 0% 154 35.1% - - - - - superfamily_SET domain RCBTB1 55213 genome.wustl.edu 37 13 50115896 50115896 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018191.3 -1 reviewed p.D414N 1.000 238 0% 113 37.2% - - benign(0.004) tolerated(0.25) neutral(0.037) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB RCBTB1 55213 genome.wustl.edu 37 13 50115950 50115950 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018191.3 -1 reviewed p.R396* 1.000 215 0% 96 39.6% - - - - - HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB KPNA3 3839 genome.wustl.edu 37 13 50296165 50296165 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002267.3 -1 reviewed p.R218W 1.000 244 0.4% 130 13.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat KPNA3 3839 genome.wustl.edu 37 13 50306552 50306552 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002267.3 -1 reviewed p.S113Y 1.000 210 0% 86 38.4% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat SPRYD7 57213 genome.wustl.edu 37 13 50488376 50488376 + RNA SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_023351.1 -1 validated NULL 0.094 231 0% 122 35.2% - - - - - - SPRYD7 57213 genome.wustl.edu 37 13 50488480 50488480 + RNA SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_023351.1 -1 validated NULL 0.820 50 0% 21 47.6% - - - - - - RNASEH2B 79621 genome.wustl.edu 37 13 51530597 51530597 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024570.2 +1 reviewed p.I309T 0.037 121 0% 37 45.9% - - benign(0) deleterious(0) neutral(0.445) NULL FAM124A 220108 genome.wustl.edu 37 13 51855369 51855369 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145019.2 +1 predicted p.D576N 0.710 94 0% 66 31.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SERPINE3 647174 genome.wustl.edu 37 13 51929237 51929237 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001101320.1 +1 validated p.D320N 0.982 304 0% 153 41.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins INTS6 26512 genome.wustl.edu 37 13 52025298 52025298 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012141.2 -1 reviewed p.E68* 1.000 292 0% 154 42.9% - - - - - superfamily_vWA-like WDFY2 115825 genome.wustl.edu 37 13 52332385 52332385 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052950.3 +1 reviewed p.F374 0.999 295 0% 180 37.8% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ATP7B 540 genome.wustl.edu 37 13 52548655 52548655 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000053.2 -1 reviewed p.R234I 0.000 89 0% 65 50.8% - - possibly_damaging(0.951) deleterious(0.01) deleterious(0.800) NULL NEK5 341676 genome.wustl.edu 37 13 52660497 52660497 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199289.1 -1 provisional p.E465D 1.000 629 0% 304 38.5% - - probably_damaging(0.998) tolerated(0.11) deleterious(0.746) NULL THSD1 55901 genome.wustl.edu 37 13 52971560 52971560 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018676.3 -1 reviewed p.K276N 1.000 164 0% 105 11.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL THSD1 55901 genome.wustl.edu 37 13 52971724 52971724 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018676.3 -1 reviewed p.L222I 0.009 119 0% 95 25.3% - - possibly_damaging(0.919) tolerated(0.16) neutral(0.429) NULL LECT1 11061 genome.wustl.edu 37 13 53313828 53313828 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007015.2 -1 reviewed p.E3D 0.699 342 0% 224 36.2% - - benign(0.018) tolerated(0.46) neutral(0.013) NULL PCDH17 27253 genome.wustl.edu 37 13 58207043 58207043 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040429.2 +1 reviewed p.E121D 0.995 152 0% 65 43.1% - - benign(0.001) deleterious(0.03) neutral(0.364) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDH17 27253 genome.wustl.edu 37 13 58207290 58207290 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040429.2 +1 reviewed p.E204K 1.000 33 0% 20 40% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH17 27253 genome.wustl.edu 37 13 58209032 58209032 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040429.2 +1 reviewed p.N784 1.000 144 0% 102 34.3% - - - - - NULL LOC341689 341689 genome.wustl.edu 37 13 59103912 59103912 + RNA SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_017487.3 +1 model NULL 0.344 74 0% 32 15.6% - - - - - - LOC341689 341689 genome.wustl.edu 37 13 59103947 59103947 + RNA SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_017487.3 +1 model NULL 0.116 65 0% 20 35% - - - - - - DIAPH3 81624 genome.wustl.edu 37 13 60240931 60240931 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042517.1 -1 validated p.I1123 1.000 410 0% 211 35.1% - - - - - NULL TDRD3 81550 genome.wustl.edu 37 13 61102642 61102642 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030794.2 +1 validated p.R335H 1.000 163 0% 57 42.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TDRD3 81550 genome.wustl.edu 37 13 61103031 61103031 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030794.2 +1 validated p.A465T 0.985 53 0% 26 19.2% - - benign(0) tolerated(0.82) neutral(0.001) NULL PCDH9 5101 genome.wustl.edu 37 13 67800080 67800080 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_203487.2 -1 reviewed p.F831 0.938 214 0% 151 40.4% - - - - - HMMPfam_Protocadherin PCDH9 5101 genome.wustl.edu 37 13 67801427 67801427 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_203487.2 -1 reviewed p.K382N 1.000 251 0% 134 32.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Cadherin,superfamily_Cadherin-like PCDH9 5101 genome.wustl.edu 37 13 67802096 67802096 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_203487.2 -1 reviewed p.S159 1.000 281 0% 120 37.5% - - - - - HMMPfam_Cadherin,superfamily_Cadherin-like KLHL1 57626 genome.wustl.edu 37 13 70371056 70371056 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020866.2 -1 validated p.L485 0.978 433 0% 247 39.3% - - - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain DACH1 1602 genome.wustl.edu 37 13 72440792 72440792 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080759.4 -1 reviewed p.S39Y 1.000 174 0% 41 24.4% - - unknown(0) deleterious(0.01) - NULL MZT1 440145 genome.wustl.edu 37 13 73293130 73293130 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001071775.2 -1 validated p.S62L 0.954 233 0.4% 104 28.8% - - benign(0.141) tolerated(0.42) neutral(0.026) NULL BORA 79866 genome.wustl.edu 37 13 73305524 73305524 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024808.2 +1 validated p.R87* 1.000 314 0% 158 32.3% - - - - - NULL DIS3 22894 genome.wustl.edu 37 13 73350210 73350210 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014953.3 -1 validated p.K225N 0.991 227 0% 150 37.3% - - benign(0.001) tolerated(0.19) neutral(0.050) NULL PIBF1 10464 genome.wustl.edu 37 13 73409469 73409469 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006346.2 +1 validated p.R396* 1.000 193 0% 66 40.9% - - - - - NULL KLF5 688 genome.wustl.edu 37 13 73636501 73636501 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001730.3 +1 reviewed p.S255F 1.000 170 0% 88 35.2% - - probably_damaging(0.962) deleterious(0) deleterious(0.850) NULL TBC1D4 9882 genome.wustl.edu 37 13 75876395 75876395 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014832.2 -1 validated p.A965 0.034 367 0.3% 203 37.4% - - - - - HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p TBC1D4 9882 genome.wustl.edu 37 13 75936335 75936335 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014832.2 -1 validated p.D303Y 1.000 65 0% 48 41.7% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like TBC1D4 9882 genome.wustl.edu 37 13 76055663 76055663 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014832.2 -1 validated p.E81* 1.000 22 0% 33 36.4% - - - - - HMMSmart_SM00462,superfamily_PH domain-like LMO7 4008 genome.wustl.edu 37 13 76379648 76379648 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015842.2 +1 reviewed p.E83D 1.000 252 0% 110 15.5% - - benign(0.143) deleterious(0.03) neutral(0.377) NULL LMO7 4008 genome.wustl.edu 37 13 76381977 76381977 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015842.2 +1 reviewed p.R287C 1.000 135 0% 69 36.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LMO7 4008 genome.wustl.edu 37 13 76383301 76383301 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015842.2 +1 reviewed p.K410R 1.000 706 0% 236 35.6% - - probably_damaging(0.969) deleterious(0.04) deleterious(0.760) NULL LMO7 4008 genome.wustl.edu 37 13 76393553 76393553 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015842.2 +1 reviewed p.R464* 0.998 177 0% 46 26.1% - - - - - NULL LMO7 4008 genome.wustl.edu 37 13 76407271 76407271 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015842.2 +1 reviewed p.P779T 0.805 471 0% 210 16.2% - - benign(0.104) tolerated(0.55) neutral(0.015) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like CLN5 1203 genome.wustl.edu 37 13 77574960 77574960 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006493.2 +1 reviewed p.I360M 0.999 100 0% 50 38% - - probably_damaging(0.983) tolerated(0.12) deleterious(0.690) NULL FBXL3 26224 genome.wustl.edu 37 13 77581627 77581627 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012158.2 -1 reviewed p.Y314H 1.000 360 0% 184 40.8% - - probably_damaging(0.996) tolerated(0.07) deleterious(0.780) superfamily_SSF52047 MYCBP2 23077 genome.wustl.edu 37 13 77625255 77625255 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015057.4 -1 validated p.R4562C 1.000 176 0% 67 29.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYCBP2 23077 genome.wustl.edu 37 13 77651414 77651414 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015057.4 -1 validated p.R3827* 1.000 540 0% 291 34% - - - - - superfamily_Galactose-binding domain-like MYCBP2 23077 genome.wustl.edu 37 13 77739406 77739406 + Splice_Site SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015057.4 -1 validated e42+2 1.000 277 0.4% 123 36.6% - - - - - - MYCBP2 23077 genome.wustl.edu 37 13 77844161 77844161 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015057.4 -1 validated p.R371I 1.000 277 0% 146 37.7% - - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL MYCBP2 23077 genome.wustl.edu 37 13 77862331 77862331 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015057.4 -1 validated p.E149K 1.000 267 0% 168 23.8% - - probably_damaging(0.993) tolerated(0.07) deleterious(0.769) NULL SCEL 8796 genome.wustl.edu 37 13 78191945 78191945 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144777.2 +1 validated p.D507N 0.893 374 0% 156 35.9% - - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL SCEL 8796 genome.wustl.edu 37 13 78214825 78214825 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144777.2 +1 validated p.R618K 1.000 274 0% 128 25.8% - - benign(0.002) tolerated(0.58) neutral(0.005) NULL EDNRB 1910 genome.wustl.edu 37 13 78492685 78492685 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000115.2 -1 reviewed p.C8 0.058 56 0% 48 45.8% - - - - - NULL POU4F1 5457 genome.wustl.edu 37 13 79175699 79175699 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006237.3 -1 validated p.E371K 1.000 116 0% 88 37.5% - - possibly_damaging(0.917) deleterious(0) deleterious(0.812) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like SLITRK1 114798 genome.wustl.edu 37 13 84453686 84453686 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052910.1 -1 reviewed p.D653N 1.000 149 0% 88 39.8% - - possibly_damaging(0.767) tolerated(0.14) deleterious(0.534) NULL SLITRK1 114798 genome.wustl.edu 37 13 84454031 84454031 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052910.1 -1 reviewed p.V538L 1.000 111 0% 82 39% - - benign(0.018) tolerated(0.15) neutral(0.241) HMMSmart_LRRCT,superfamily_SSF52058 SLITRK1 114798 genome.wustl.edu 37 13 84454671 84454671 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052910.1 -1 reviewed p.A324 0.521 228 0% 163 36.8% - - - - - NULL SLITRK1 114798 genome.wustl.edu 37 13 84455150 84455150 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052910.1 -1 reviewed p.L165I 1.000 109 0% 46 15.2% - - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 SLITRK6 84189 genome.wustl.edu 37 13 86369411 86369411 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032229.2 -1 validated p.T411 0.995 203 0% 91 37.4% - - - - - HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like SLITRK6 84189 genome.wustl.edu 37 13 86369971 86369971 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032229.2 -1 validated p.D225Y 1.000 89 0% 64 32.8% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_SM00082,superfamily_L domain-like DCT 1638 genome.wustl.edu 37 13 95092216 95092216 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001129889.1 -1 validated p.R532Q 0.305 301 0% 144 38.2% - - benign(0.222) tolerated(0.2) neutral(0.071) NULL TGDS 23483 genome.wustl.edu 37 13 95246143 95246143 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014305.2 -1 validated p.V35 0.933 215 0% 122 27% - - - - - HMMPfam_Epimerase,superfamily_NAD(P)-binding Rossmann-fold domains GPR180 160897 genome.wustl.edu 37 13 95257710 95257710 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_180989.4 +1 reviewed p.L71F 1.000 240 0% 143 34.3% - - probably_damaging(0.976) deleterious(0.03) deleterious(0.782) NULL GPR180 160897 genome.wustl.edu 37 13 95264605 95264605 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_180989.4 +1 reviewed p.E156K 1.000 236 0% 100 46% - - possibly_damaging(0.923) tolerated(0.22) neutral(0.414) HMMPfam_GpcrRhopsn4 ABCC4 10257 genome.wustl.edu 37 13 95725484 95725484 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005845.3 -1 reviewed p.R998* 0.947 232 0% 122 19.7% - - - - - superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain CLDN10 9071 genome.wustl.edu 37 13 96086229 96086229 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182848.3 +1 reviewed p.W48R 1.000 366 0% 211 31.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN DZIP1 22873 genome.wustl.edu 37 13 96242593 96242593 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198968.2 -1 validated p.R595* 0.997 447 0% 277 40.8% - - - - - NULL DZIP1 22873 genome.wustl.edu 37 13 96264414 96264414 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198968.2 -1 validated p.E397D 1.000 334 0% 214 36.4% - - probably_damaging(0.998) tolerated(0.44) deleterious(0.487) NULL OXGR1 27199 genome.wustl.edu 37 13 97639571 97639571 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080818.3 -1 reviewed p.R148Q 0.011 200 0% 114 40.4% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MBNL2 10150 genome.wustl.edu 37 13 97999103 97999103 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144778.2 +1 reviewed p.D196N 1.000 79 0% 68 11.8% - - possibly_damaging(0.898) tolerated(0.1) deleterious(0.641) HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 IPO5 3843 genome.wustl.edu 37 13 98655160 98655160 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002271.4 +1 reviewed p.Q474K 1.000 248 0% 156 32.1% - - benign(0.025) deleterious(0.01) neutral(0.407) HMMPfam_HEAT,superfamily_ARM-type_fold FARP1 10160 genome.wustl.edu 37 13 99045956 99045956 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005766.2 +1 reviewed p.S383L 0.770 239 0% 108 39.8% - - benign(0.001) tolerated(0.18) neutral(0.056) NULL STK24 8428 genome.wustl.edu 37 13 99134569 99134569 + Nonsense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003576.3 -1 validated p.K106* 1.000 132 0% 76 40.8% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DOCK9 23348 genome.wustl.edu 37 13 99457401 99457401 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000357329 -1 known p.F1874L 1.000 503 0% 277 15.9% - - benign(0.208) deleterious(0.01) neutral(0.426) NULL GPR18 2841 genome.wustl.edu 37 13 99907672 99907672 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098200.1 -1 validated p.T152M 0.664 340 0% 205 32.7% - - possibly_damaging(0.742) deleterious(0.04) deleterious(0.621) HMMPfam_7tm_1,superfamily_SSF81321 GPR183 1880 genome.wustl.edu 37 13 99947583 99947583 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004951.4 -1 reviewed p.R273C 0.000 136 0% 67 52.2% - - benign(0.003) tolerated(0.18) neutral(0.056) HMMPfam_7tm_1,superfamily_SSF81321 UBAC2 337867 genome.wustl.edu 37 13 99992656 99992656 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144072.1 +1 validated p.S215Y 0.997 148 0% 76 40.8% - - possibly_damaging(0.918) deleterious(0.02) deleterious(0.752) NULL CLYBL 171425 genome.wustl.edu 37 13 100517232 100517232 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000416504 +1 known p.S151Y 0.939 149 0% 100 35% - - probably_damaging(0.978) deleterious(0.01) deleterious(0.826) NULL CLYBL 171425 genome.wustl.edu 37 13 100518531 100518531 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_206808.2 +1 validated p.R204C 0.998 180 0% 108 43.5% - - - - - NULL CLYBL 171425 genome.wustl.edu 37 13 100543639 100543639 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000339105 +1 known p.T332M 1.000 261 0% 144 29.2% - - possibly_damaging(0.771) tolerated(0.09) deleterious(0.583) NULL PCCA 5095 genome.wustl.edu 37 13 100982923 100982923 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000282.3 +1 reviewed p.K513R 1.000 329 0% 139 33.8% - - probably_damaging(0.979) tolerated(0.17) deleterious(0.481) superfamily_Rudmnt_hyb_motif NALCN 259232 genome.wustl.edu 37 13 101757261 101757261 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052867.2 -1 validated p.K874Q 1.000 587 0% 286 32.2% - - benign(0.184) tolerated(0.55) neutral(0.024) superfamily_Voltage-gated potassium channels NALCN 259232 genome.wustl.edu 37 13 102047642 102047642 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052867.2 -1 validated p.F61 1.000 135 0% 76 32.9% - - - - - superfamily_Voltage-gated potassium channels TPP2 7174 genome.wustl.edu 37 13 103249412 103249412 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003291.2 +1 reviewed p.E8 1.000 31 0% 26 34.6% - - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103384608 103384608 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344085.1 -1 model p.L5995I 0.876 311 0% 156 35.9% - - unknown(0) - - NULL LOC643677 643677 genome.wustl.edu 37 13 103385307 103385307 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344085.1 -1 model p.L5762M 0.003 333 0% 187 23% - - unknown(0) - - NULL LOC643677 643677 genome.wustl.edu 37 13 103385963 103385963 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344085.1 -1 model p.T5543N 0.001 290 0% 138 31.2% - - probably_damaging(0.997) - - NULL LOC643677 643677 genome.wustl.edu 37 13 103386390 103386390 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344085.1 -1 model p.F5401V 0.806 265 0% 138 38.4% - - probably_damaging(0.987) - - NULL LOC643677 643677 genome.wustl.edu 37 13 103387552 103387552 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344085.1 -1 model p.K5013N 0.013 171 0% 109 34.9% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL LOC643677 643677 genome.wustl.edu 37 13 103389475 103389475 + Silent SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344085.1 -1 model p.A4372 0.060 403 0% 177 14.7% - - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103389561 103389561 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344085.1 -1 model p.E4344* 0.002 184 0.5% 130 10% - - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103389747 103389747 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344085.1 -1 model p.L4282V 0.000 429 0% 247 37.7% - - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103391066 103391066 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344085.1 -1 model p.R3923I 0.000 490 0% 257 38.5% - - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103391555 103391555 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344085.1 -1 model p.R3760Q 0.000 305 0% 137 33.6% - - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103392352 103392352 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344085.1 -1 model p.R3494 0.011 322 0% 169 30.2% - - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103393025 103393025 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344085.1 -1 model p.S3270Y 0.004 324 0% 175 31.4% - - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103393853 103393853 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344085.1 -1 model p.S2994* 0.002 133 0% 67 31.3% - - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103394047 103394047 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344085.1 -1 model p.G2929 0.000 110 0% 71 25.4% - - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103394465 103394465 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344085.1 -1 model p.S2790N 0.000 331 0% 213 40.8% - - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103399028 103399028 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344085.1 -1 model p.T1269I 0.000 340 0% 185 36.8% - - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103400097 103400097 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344085.1 -1 model p.K913Q 0.002 444 0% 268 23.9% - - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103400690 103400690 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344085.1 -1 model p.A715V 0.000 341 0% 185 39.5% - - - - - NULL TEX30 93081 genome.wustl.edu 37 13 103419754 103419754 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138779.3 -1 validated p.R125W 1.000 165 0% 99 40.4% - - probably_damaging(0.994) tolerated(0.16) deleterious(0.512) superfamily_SSF53474 TEX30 93081 genome.wustl.edu 37 13 103421728 103421728 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138779.3 -1 validated p.F60C 1.000 144 0% 74 37.8% - - possibly_damaging(0.506) deleterious(0.01) deleterious(0.575) superfamily_SSF53474 BIVM 54841 genome.wustl.edu 37 13 103460041 103460041 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017693.3 +1 validated p.E142K 1.000 57 0% 25 52% - - probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL ERCC5 2073 genome.wustl.edu 37 13 103528229 103528229 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000123.2 +1 reviewed p.A1179 0.000 83 0% 31 22.6% - - - - - NULL FAM155A 728215 genome.wustl.edu 37 13 108518390 108518390 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080396.2 -1 validated p.E185D 0.918 35 0% 16 37.5% - - benign(0.003) tolerated(0.49) neutral(0.011) NULL FAM155A 728215 genome.wustl.edu 37 13 108518867 108518867 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080396.2 -1 validated p.E26D 1.000 118 0% 54 20.4% - - benign(0.236) tolerated(0.58) neutral(0.029) NULL ABHD13 84945 genome.wustl.edu 37 13 108881742 108881742 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032859.2 +1 validated p.K59T 1.000 300 0% 166 31.9% - - possibly_damaging(0.799) tolerated(0.29) neutral(0.330) superfamily_alpha/beta-Hydrolases TNFSF13B 10673 genome.wustl.edu 37 13 108922687 108922687 + Splice_Site SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006573.3 +1 reviewed e2-1 0.000 213 0% 106 28.3% - - - - - - TNFSF13B 10673 genome.wustl.edu 37 13 108955841 108955841 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006573.3 +1 reviewed p.I212L 0.993 482 0% 218 36.2% - - possibly_damaging(0.674) deleterious(0.01) deleterious(0.645) HMMPfam_TNF,superfamily_TNF-like COL4A1 1282 genome.wustl.edu 37 13 110813658 110813658 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001845.4 -1 reviewed p.I1507M 1.000 243 0% 170 30.6% - - unknown(0) tolerated(0.36) - HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like CARS2 79587 genome.wustl.edu 37 13 111296748 111296748 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024537.2 -1 validated p.S467Y 1.000 195 0% 71 47.9% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_tRNAsyn_1a_bind ARHGEF7 8874 genome.wustl.edu 37 13 111896601 111896601 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001113511.1 +1 reviewed p.F325V 1.000 162 0% 77 36.4% - - probably_damaging(0.999) tolerated(0.28) deleterious(0.522) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) TUBGCP3 10426 genome.wustl.edu 37 13 113174225 113174225 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006322.4 -1 provisional p.R619Q 0.394 219 0% 93 41.9% - - benign(0.001) tolerated(0.25) neutral(0.037) HMMPfam_Spc97_Spc98 ATP11A 23250 genome.wustl.edu 37 13 113479746 113479746 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000418678 +1 known p.R267* 1.000 163 0% 90 13.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ATP11A 23250 genome.wustl.edu 37 13 113508715 113508715 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032189.3 +1 reviewed p.R705H 0.828 57 0% 42 38.1% - - benign(0.061) tolerated(0.42) neutral(0.018) superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M MCF2L 23263 genome.wustl.edu 37 13 113742683 113742683 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001112732.1 +1 validated p.R968W 1.000 172 0% 130 18.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ADPRHL1 113622 genome.wustl.edu 37 13 114077254 114077254 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138430.3 -1 validated p.F316 0.123 88 0% 70 17.1% - - - - - HMMPfam_ADP_ribosyl_GH,superfamily_ADP-ribosylglycohydrolase TMCO3 55002 genome.wustl.edu 37 13 114154395 114154395 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017905.4 +1 validated p.Q249H 0.998 349 0% 169 13.6% - - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL FAM70B 348013 genome.wustl.edu 37 13 114472080 114472080 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182614.2 +1 provisional p.G67* 1.000 850 0.1% 400 37% - - - - - NULL GAS6 2621 genome.wustl.edu 37 13 114524939 114524939 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000820.2 -1 reviewed p.G625D 0.997 5 0.000 7 0.714 - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 RASA3 22821 genome.wustl.edu 37 13 114751211 114751211 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007368.2 -1 reviewed p.F768 0.195 156 0% 121 33.9% - - - - - NULL RASA3 22821 genome.wustl.edu 37 13 114793341 114793341 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007368.2 -1 reviewed p.T171M 0.995 185 0% 101 16.8% - - possibly_damaging(0.908) deleterious(0.01) deleterious(0.767) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB CDC16 8881 genome.wustl.edu 37 13 115024817 115024817 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001078645.1 +1 reviewed p.T420A 1.000 224 0% 118 37.3% - - benign(0) tolerated(0.73) neutral(0.002) HMMSmart_SM00028,superfamily_TPR-like UPF3A 65110 genome.wustl.edu 37 13 115057234 115057234 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023011.2 +1 reviewed p.Q271H 0.910 272 0.7% 68 41.2% - - benign(0.026) tolerated(0.13) neutral(0.254) NULL OR11H12 440153 genome.wustl.edu 37 14 19377917 19377917 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013354.1 +1 provisional p.S108 0.127 845 0% 366 16.9% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR11H2 79334 genome.wustl.edu 37 14 20181547 20181547 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000334072 -1 known p.L177I 0.001 1876 0.1% 942 13.4% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4Q3 441669 genome.wustl.edu 37 14 20215773 20215773 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172194.1 +1 provisional p.F63V 0.995 842 0% 430 16.7% - - benign(0.422) deleterious(0) deleterious(0.582) HMMPfam_7tm_1,superfamily_SSF81321 OR4M1 441670 genome.wustl.edu 37 14 20248896 20248896 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005500.1 +1 provisional p.R139C 0.001 1748 0.2% 964 14.1% - - benign(0.002) deleterious(0) neutral(0.445) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4N2 390429 genome.wustl.edu 37 14 20295910 20295910 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004723.1 +1 provisional p.L101 0.998 914 0% 501 12.6% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4N2 390429 genome.wustl.edu 37 14 20296100 20296100 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004723.1 +1 provisional p.R165C 0.000 685 0% 485 14.4% - - benign(0.039) tolerated(0.1) neutral(0.288) HMMPfam_7tm_1,superfamily_SSF81321 OR4K2 390431 genome.wustl.edu 37 14 20344930 20344930 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005501.1 +1 provisional p.F168L 1.000 1278 0% 754 17.4% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4K2 390431 genome.wustl.edu 37 14 20345233 20345233 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005501.1 +1 provisional p.K269N 0.086 923 0% 444 16.2% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4K17 390436 genome.wustl.edu 37 14 20586423 20586423 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004715.1 +1 provisional p.I286 0.011 299 0% 179 27.9% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4N5 390437 genome.wustl.edu 37 14 20612088 20612088 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004724.1 +1 provisional p.N65S 0.351 636 0% 336 13.4% - - benign(0.333) tolerated(0.18) neutral(0.161) HMMPfam_7tm_1,superfamily_SSF81321 OR4N5 390437 genome.wustl.edu 37 14 20612639 20612639 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004724.1 +1 provisional p.L249I 1.000 311 0% 195 36.4% - - benign(0.043) tolerated(0.07) neutral(0.322) HMMPfam_7tm_1,superfamily_SSF81321 OR11H4 390442 genome.wustl.edu 37 14 20711236 20711236 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004479.1 +1 provisional p.L96I 0.949 218 0% 128 35.9% - - possibly_damaging(0.761) tolerated(0.09) deleterious(0.579) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR11H4 390442 genome.wustl.edu 37 14 20711484 20711484 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004479.1 +1 provisional p.F178 1.000 393 0% 217 33.2% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PARP2 10038 genome.wustl.edu 37 14 20823033 20823033 + Missense_Mutation SNP C C T rs140156644 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005484.3 +1 reviewed p.R290W 1.000 234 0% 127 37.8% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_PARP_reg,superfamily_Domain of poly(ADP-ribose) polymerase PARP2 10038 genome.wustl.edu 37 14 20824756 20824756 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005484.3 +1 reviewed p.L426I 1.000 473 0% 273 32.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PARP,superfamily_ADP-ribosylation TEP1 7011 genome.wustl.edu 37 14 20836632 20836632 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007110.4 -1 reviewed p.D2616 0.027 81 0% 49 30.6% - - - - - superfamily_WD40 repeat-like TEP1 7011 genome.wustl.edu 37 14 20863770 20863770 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007110.4 -1 reviewed p.S589 0.549 247 0% 159 39% - - - - - HMMPfam_TROVE OSGEP 55644 genome.wustl.edu 37 14 20917168 20917168 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017807.2 -1 validated p.S171Y 1.000 679 0% 245 38.8% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Peptidase_M22,superfamily_SSF53067 RNASE9 390443 genome.wustl.edu 37 14 21025042 21025042 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001673.3 -1 provisional p.E63* 0.000 540 0% 263 39.5% - - - - - superfamily_RNase A-like EDDM3B 64184 genome.wustl.edu 37 14 21238699 21238699 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022360.4 +1 validated p.D130 0.047 165 0% 88 30.7% - - - - - superfamily_RNaseA RNASE7 84659 genome.wustl.edu 37 14 21511175 21511175 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032572.3 +1 validated p.F8L 0.010 172 0.6% 115 37.4% - - benign(0.014) tolerated(0.08) neutral(0.300) NULL ZNF219 51222 genome.wustl.edu 37 14 21560660 21560660 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001101672.1 -1 validated p.E266K 0.999 23 0% 23 26.1% - - possibly_damaging(0.666) deleterious(0.04) deleterious(0.585) NULL RPGRIP1 57096 genome.wustl.edu 37 14 21796715 21796715 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020366.3 +1 reviewed p.R1010G 0.634 273 0% 114 28.9% - - possibly_damaging(0.929) tolerated(0.12) deleterious(0.637) NULL SUPT16H 11198 genome.wustl.edu 37 14 21830433 21830433 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007192.3 -1 reviewed p.F572L 1.000 188 0% 102 32.4% - - possibly_damaging(0.69) deleterious(0.04) deleterious(0.596) HMMPfam_SPT16 METTL3 56339 genome.wustl.edu 37 14 21967927 21967927 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019852.3 -1 reviewed p.E442* 1.000 377 0% 170 33.5% - - - - - HMMPfam_MT-A70 SALL2 6297 genome.wustl.edu 37 14 21992302 21992302 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005407.1 -1 validated p.K520N 0.924 100 0% 68 33.8% - - probably_damaging(0.999) tolerated(0.2) deleterious(0.539) NULL ABHD4 63874 genome.wustl.edu 37 14 23079840 23079840 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022060.2 +1 validated p.D339N 0.028 179 0% 96 26% - - benign(0) tolerated(0.45) neutral(0.012) superfamily_SSF53474 PRMT5 10419 genome.wustl.edu 37 14 23397390 23397390 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006109.3 -1 validated p.S87Y 1.000 192 0% 97 35.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL AJUBA 84962 genome.wustl.edu 37 14 23442759 23442759 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032876.4 -1 validated p.S504R 0.998 170 0% 98 35.7% - - possibly_damaging(0.916) deleterious(0) deleterious(0.811) HMMPfam_LIM,HMMSmart_LIM C14orf93 60686 genome.wustl.edu 37 14 23456520 23456520 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130706.1 -1 validated p.E507D 1.000 269 0% 165 32.7% - - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL PSMB5 5693 genome.wustl.edu 37 14 23502697 23502697 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002797.3 -1 reviewed p.N129D 1.000 124 0% 108 31.5% - - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_Proteasome,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) ACIN1 22985 genome.wustl.edu 37 14 23549591 23549591 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014977.3 -1 validated p.S376Y 0.224 275 0% 205 39% - - possibly_damaging(0.491) deleterious(0) deleterious(0.608) NULL HOMEZ 57594 genome.wustl.edu 37 14 23745574 23745574 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020834.2 -1 validated p.T288I 1.000 327 0% 174 12.6% - - benign(0.258) tolerated(0.36) neutral(0.047) NULL MYH6 4624 genome.wustl.edu 37 14 23863430 23863430 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002471.3 -1 validated p.S844 0.904 369 0% 271 38% - - - - - NULL MIR208B 100126336 genome.wustl.edu 37 14 23887231 23887231 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000401172 -1 known NULL 0.994 157 0% 88 37.5% - - - - - - MYH7 4625 genome.wustl.edu 37 14 23894232 23894232 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000257.2 -1 reviewed p.D809Y 1.000 198 0% 132 35.6% - - benign(0.061) deleterious(0.02) neutral(0.387) superfamily_P-loop containing nucleoside triphosphate hydrolases MYH7 4625 genome.wustl.edu 37 14 23900677 23900677 + Missense_Mutation SNP C C T rs3218713 byCluster TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000257.2 -1 reviewed p.R249Q 1.000 244 0% 143 28.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH7 4625 genome.wustl.edu 37 14 23902377 23902377 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000257.2 -1 reviewed p.I87 0.997 424 0% 308 15.6% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases DHRS2 10202 genome.wustl.edu 37 14 24109027 24109027 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182908.4 +1 validated p.D115N 0.971 122 0% 83 33.7% - - probably_damaging(0.989) tolerated(0.1) deleterious(0.726) HMMPfam_adh_short,superfamily_NAD(P)-bd DHRS4L1 728635 genome.wustl.edu 37 14 24511937 24511937 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001082488.1 +1 provisional p.S116L 0.002 466 0% 251 37.5% - - unknown(0) deleterious(0.02) - HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains DHRS4L1 728635 genome.wustl.edu 37 14 24517579 24517579 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001082488.1 +1 provisional p.P178L 0.006 646 0% 393 36.1% - - possibly_damaging(0.449) deleterious(0.04) deleterious(0.496) HMMPfam_adh_short,PatternScan_ADH_SHORT,superfamily_NAD(P)-binding Rossmann-fold domains LRRC16B 90668 genome.wustl.edu 37 14 24524295 24524295 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138360.3 +1 validated p.A161T 1.000 486 0% 250 29.6% - - unknown(0) deleterious(0.05) - superfamily_RNI-like PCK2 5106 genome.wustl.edu 37 14 24572815 24572815 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004563.2 +1 reviewed p.K522T 1.000 110 0% 83 20.5% - - benign(0.001) tolerated(0.59) neutral(0.004) HMMPfam_PEPCK,superfamily_PEP carboxykinase-like RNF31 55072 genome.wustl.edu 37 14 24619440 24619440 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017999.4 +1 validated p.R327Q 1.000 251 0% 121 33.9% - - probably_damaging(0.988) deleterious(0.02) deleterious(0.821) superfamily_Znf265 first zinc-finger domain RNF31 55072 genome.wustl.edu 37 14 24620515 24620515 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017999.4 +1 validated p.R555Q 1.000 215 0.5% 171 35.7% - - benign(0.341) deleterious(0.02) deleterious(0.490) NULL GMPR2 51292 genome.wustl.edu 37 14 24707781 24707781 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000348719 +1 known p.F343V 0.015 146 0% 81 39.5% - - benign(0) deleterious(0.04) neutral(0.349) HMMPfam_IMPDH,superfamily_SSF51412 TINF2 26277 genome.wustl.edu 37 14 24711098 24711098 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099274.1 -1 reviewed p.A99T 0.884 108 0% 109 33.9% - - benign(0.001) tolerated(0.93) - NULL TGM1 7051 genome.wustl.edu 37 14 24731326 24731326 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000359.2 -1 reviewed p.R78Q 0.007 29 0% 33 42.4% - - possibly_damaging(0.867) tolerated(0.59) neutral(0.341) superfamily_Ig_E-set DHRS1 115817 genome.wustl.edu 37 14 24760109 24760109 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136050.2 -1 reviewed p.R300C 1.000 303 0% 137 38.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LTB4R2 56413 genome.wustl.edu 37 14 24779967 24779967 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019839.4 +1 validated p.L64 0.988 24 0% 18 38.9% - - - - - superfamily_SSF81321 LTB4R2 56413 genome.wustl.edu 37 14 24780794 24780794 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019839.4 +1 validated p.F339 0.995 62 0% 50 30% - - - - - NULL NYNRIN 57523 genome.wustl.edu 37 14 24878759 24878759 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025081.2 +1 validated p.E587* 0.012 70 0% 45 13.3% - - - - - NULL CMA1 1215 genome.wustl.edu 37 14 24977408 24977408 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001836.2 -1 reviewed p.L12I 0.045 133 0% 68 36.8% - - unknown(0) tolerated(1) - NULL NOVA1 4857 genome.wustl.edu 37 14 26939689 26939689 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006491.2 -1 reviewed p.N176S 0.001 525 0% 268 35.1% - - unknown(0) - - NULL ENSG00000197358 0 genome.wustl.edu 37 14 28733898 28733898 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000355069 +1 known p.L47M 0.092 310 0.3% 154 36.4% - - - - - HMMPfam_BNIP3 PRKD1 5587 genome.wustl.edu 37 14 30107759 30107759 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002742.2 -1 validated p.N307 1.000 440 0% 253 30.8% - - - - - HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_SSF57889 G2E3 55632 genome.wustl.edu 37 14 31061644 31061644 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017769.3 +1 validated p.G118D 0.998 309 0.3% 187 11.8% - - benign(0.033) tolerated(0.37) neutral(0.021) HMMSmart_PHD,PatternScan_ZF_PHD_1 COCH 1690 genome.wustl.edu 37 14 31349850 31349850 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135058.1 +1 reviewed p.R180Q 1.000 343 0% 165 13.9% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COCH 1690 genome.wustl.edu 37 14 31354712 31354712 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135058.1 +1 reviewed p.I282 0.358 728 0% 388 37.6% - - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like ENSG00000250370 0 genome.wustl.edu 37 14 31354936 31354936 + RNA SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000503907 -1 known NULL 0.000 237 0% 147 40.1% - - - - - - HECTD1 25831 genome.wustl.edu 37 14 31582497 31582497 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015382.2 -1 validated p.R2017I 1.000 118 0% 46 47.8% - - benign(0.072) deleterious(0.01) neutral(0.411) NULL ARHGAP5 394 genome.wustl.edu 37 14 32561114 32561114 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001030055.1 +1 reviewed p.V413 1.000 217 0% 83 25.3% - - - - - HMMSmart_SM00441 ARHGAP5 394 genome.wustl.edu 37 14 32563239 32563239 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001030055.1 +1 reviewed p.R1122* 0.998 79 0% 33 30.3% - - - - - NULL ARHGAP5 394 genome.wustl.edu 37 14 32624002 32624002 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001030055.1 +1 reviewed p.E1453* 1.000 212 0% 123 30.9% - - - - - NULL AKAP6 9472 genome.wustl.edu 37 14 33014961 33014961 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004274.4 +1 reviewed p.T368A 0.760 66 0% 29 34.5% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL AKAP6 9472 genome.wustl.edu 37 14 33068685 33068685 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004274.4 +1 reviewed p.L847I 1.000 266 0% 129 34.9% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_SM00150,superfamily_Spectrin repeat AKAP6 9472 genome.wustl.edu 37 14 33205067 33205067 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004274.4 +1 reviewed p.E1117D 1.000 172 0% 49 36.7% - - possibly_damaging(0.797) deleterious(0) deleterious(0.744) HMMSmart_SM00150,superfamily_Spectrin repeat AKAP6 9472 genome.wustl.edu 37 14 33292209 33292209 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004274.4 +1 reviewed p.S1730 0.114 210 0.5% 148 38.5% - - - - - NULL AKAP6 9472 genome.wustl.edu 37 14 33293222 33293222 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004274.4 +1 reviewed p.S2068L 1.000 133 0% 89 24.7% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL NPAS3 64067 genome.wustl.edu 37 14 33525156 33525156 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356141 +1 known p.K32N 1.000 259 0% 132 37.9% - - possibly_damaging(0.903) deleterious(0.03) deleterious(0.722) NULL SNX6 58533 genome.wustl.edu 37 14 35050779 35050779 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152233.2 -1 reviewed p.F286 1.000 197 0% 89 33.7% - - - - - HMMPfam_Vps5 BAZ1A 11177 genome.wustl.edu 37 14 35224069 35224069 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013448.2 -1 validated p.R1480S 1.000 385 0% 176 13.1% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 BAZ1A 11177 genome.wustl.edu 37 14 35262020 35262020 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013448.2 -1 validated p.E491* 1.000 371 0% 183 13.7% - - - - - NULL SRP54 6729 genome.wustl.edu 37 14 35484023 35484023 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003136.3 +1 validated p.E320D 1.000 414 0% 137 37.2% - - benign(0) tolerated(0.29) neutral(0.029) superfamily_Signal peptide-binding domain PPP2R3C 55012 genome.wustl.edu 37 14 35560282 35560282 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017917.2 -1 provisional p.F369L 1.000 251 0% 148 27% - - probably_damaging(0.968) deleterious(0) deleterious(0.855) superfamily_EF-hand RALGAPA1 253959 genome.wustl.edu 37 14 36008812 36008812 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194301.2 -1 provisional p.R2063Q 1.000 302 0% 162 40.7% - - possibly_damaging(0.95) tolerated(0.27) neutral(0.427) NULL BRMS1L 84312 genome.wustl.edu 37 14 36300693 36300693 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032352.3 +1 reviewed p.D74N 1.000 322 0% 149 38.3% - - benign(0.04) tolerated(0.15) neutral(0.243) HMMPfam_Sds3 MBIP 51562 genome.wustl.edu 37 14 36768394 36768394 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000359527 -1 known p.E278* 1.000 696 0% 351 16.2% - - - - - NULL NKX2-8 26257 genome.wustl.edu 37 14 37051579 37051579 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014360.2 -1 provisional p.R6C 1.000 43 0% 30 20% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SLC25A21 89874 genome.wustl.edu 37 14 37154042 37154042 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030631.3 -1 validated p.A231V 1.000 410 0% 192 29.7% - - possibly_damaging(0.854) tolerated(0.15) deleterious(0.570) superfamily_Mitoch_carrier,HMMPfam_Mito_carr MIPOL1 145282 genome.wustl.edu 37 14 37736219 37736219 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138731.5 +1 validated p.M32I 0.343 288 0% 118 26.3% - - benign(0.036) tolerated(0.07) neutral(0.321) NULL FOXA1 3169 genome.wustl.edu 37 14 38061432 38061432 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004496.2 -1 reviewed p.A186V 1.000 153 0% 84 39.3% - - possibly_damaging(0.808) deleterious(0.01) deleterious(0.710) HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 TTC6 319089 genome.wustl.edu 37 14 38295545 38295545 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343299.1 +1 model p.A1435V 0.995 181 0% 111 40.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_TPR-like CLEC14A 161198 genome.wustl.edu 37 14 38724203 38724203 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175060.1 -1 provisional p.S342Y 0.029 76 0% 34 35.3% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL CLEC14A 161198 genome.wustl.edu 37 14 38724258 38724258 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175060.1 -1 provisional p.D324N 0.000 36 0% 20 30% - - benign(0.006) tolerated(0.97) - NULL MIA2 117153 genome.wustl.edu 37 14 39716612 39716612 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_054024.3 +1 validated p.Q278H 0.151 241 0% 129 17.8% - - probably_damaging(0.96) tolerated(0.05) deleterious(0.748) NULL LRFN5 145581 genome.wustl.edu 37 14 42360920 42360920 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152447.3 +1 validated p.S618L 1.000 323 0% 182 32.4% - - benign(0.014) tolerated(0.19) neutral(0.050) NULL FSCB 84075 genome.wustl.edu 37 14 44974609 44974609 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032135.3 -1 validated p.L528I 0.027 48 0% 38 26.3% - - possibly_damaging(0.763) tolerated(0.59) neutral(0.287) NULL FSCB 84075 genome.wustl.edu 37 14 44975723 44975723 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032135.3 -1 validated p.Q156H 1.000 432 0% 224 23.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C14orf28 122525 genome.wustl.edu 37 14 45369824 45369824 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017923.1 +1 validated p.F62 1.000 132 0% 86 36% - - - - - NULL C14orf28 122525 genome.wustl.edu 37 14 45369913 45369913 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017923.1 +1 validated p.F92C 1.000 98 0% 50 42% - - possibly_damaging(0.776) deleterious(0) deleterious(0.734) NULL FAM179B 23116 genome.wustl.edu 37 14 45473352 45473352 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015091.2 +1 validated p.S809 0.489 200 0% 111 37.8% - - - - - superfamily_ARM repeat FAM179B 23116 genome.wustl.edu 37 14 45521654 45521654 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015091.2 +1 validated p.K1390N 1.000 204 0% 100 39% - - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) superfamily_ARM repeat FANCM 57697 genome.wustl.edu 37 14 45645046 45645046 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020937.2 +1 reviewed p.R1030Q 0.174 45 0% 17 88.2% - - benign(0) tolerated(0.86) neutral(0.001) NULL FANCM 57697 genome.wustl.edu 37 14 45645587 45645587 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020937.2 +1 reviewed p.Q1210 0.002 235 0% 148 29.1% - - - - - NULL FANCM 57697 genome.wustl.edu 37 14 45645606 45645606 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020937.2 +1 reviewed p.H1217N 0.000 246 0% 139 43.9% - - benign(0) tolerated(0.14) neutral(0.249) NULL FANCM 57697 genome.wustl.edu 37 14 45645817 45645817 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020937.2 +1 reviewed p.K1287T 0.000 206 0% 97 39.2% - - benign(0.011) tolerated(1) neutral(0.001) NULL MDGA2 161357 genome.wustl.edu 37 14 47342741 47342741 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001113498.1 -1 validated p.R814* 1.000 407 0.2% 197 35.5% - - - - - HMMPfam_MAM,HMMSmart_MAM DNAAF2 55172 genome.wustl.edu 37 14 50092358 50092358 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018139.2 -1 reviewed p.E806* 1.000 489 0% 266 34.6% - - - - - NULL NEMF 9147 genome.wustl.edu 37 14 50298976 50298976 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004713.3 -1 validated p.R252I 1.000 257 0% 172 37.8% - - benign(0.007) tolerated(0.05) neutral(0.345) NULL SOS2 6655 genome.wustl.edu 37 14 50655256 50655256 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006939.2 -1 validated p.R225 1.000 184 0% 89 40.4% - - - - - HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain ATP5S 27109 genome.wustl.edu 37 14 50798937 50798937 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000358473 +1 known p.L228 0.001 509 0% 370 34.9% - - - - - NULL CDKL1 8814 genome.wustl.edu 37 14 50799072 50799072 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004196.3 -1 reviewed p.E293* 1.000 867 0% 506 41.1% - - - - - superfamily_Protein kinase-like (PK-like) MAP4K5 11183 genome.wustl.edu 37 14 50904246 50904246 + Silent SNP G G A rs191525698 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006575.3 -1 reviewed p.F610 0.994 387 0% 213 12.7% - - - - - HMMPfam_CNH,HMMSmart_SM00036 PYGL 5836 genome.wustl.edu 37 14 51372246 51372246 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002863.4 -1 reviewed p.L803R 1.000 480 0% 271 36.9% - - possibly_damaging(0.769) deleterious(0) deleterious(0.730) HMMPfam_Phosphorylase,superfamily_SSF53756 TRIM9 114088 genome.wustl.edu 37 14 51446186 51446186 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015163.5 -1 reviewed p.N663 1.000 289 0.3% 162 34% - - - - - HMMPfam_SPRY,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00449 NID2 22795 genome.wustl.edu 37 14 52505497 52505497 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007361.3 -1 validated p.F742C 0.992 357 0% 211 37.9% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00682,superfamily_GFP-like NID2 22795 genome.wustl.edu 37 14 52534591 52534591 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007361.3 -1 validated p.A173 0.000 18 0% 11 45.5% - - - - - HMMSmart_SM00539 TXNDC16 57544 genome.wustl.edu 37 14 52955155 52955155 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020784.2 -1 validated p.S345Y 0.996 274 0% 135 16.3% - - benign(0.258) tolerated(0.27) neutral(0.060) NULL TXNDC16 57544 genome.wustl.edu 37 14 53010216 53010216 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020784.2 -1 validated p.F20 0.410 250 0% 103 37.9% - - - - - NULL GPR137C 283554 genome.wustl.edu 37 14 53066907 53066907 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099652.1 +1 provisional p.H189N 1.000 654 0% 327 28.1% - - probably_damaging(0.963) tolerated(0.14) deleterious(0.655) NULL ERO1L 30001 genome.wustl.edu 37 14 53133109 53133109 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014584.1 -1 provisional p.E205K 1.000 227 0% 134 37.3% - - probably_damaging(1) tolerated(0.46) deleterious(0.512) HMMPfam_ERO1,superfamily_ERO1 DDHD1 80821 genome.wustl.edu 37 14 53513551 53513551 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030637.2 -1 validated p.L852I 1.000 305 0.3% 160 22.5% - - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_DDHD DDHD1 80821 genome.wustl.edu 37 14 53518563 53518563 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000323669 -1 known p.L840 1.000 288 0% 141 42.6% - - - - - HMMPfam_DDHD DDHD1 80821 genome.wustl.edu 37 14 53539318 53539318 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030637.2 -1 validated p.D500 1.000 339 0% 125 31.2% - - - - - NULL CGRRF1 10668 genome.wustl.edu 37 14 55005089 55005089 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006568.2 +1 validated p.P329 0.057 137 0% 77 44.2% - - - - - NULL WDHD1 11169 genome.wustl.edu 37 14 55422384 55422384 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007086.2 -1 reviewed p.R982I 0.006 361 0% 208 25% - - possibly_damaging(0.502) deleterious(0.02) deleterious(0.550) superfamily_WD40_like LGALS3 3958 genome.wustl.edu 37 14 55604109 55604109 + Silent SNP G G T rs78001930 byCluster;by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002306.3 +1 reviewed p.S6 0.985 784 0% 395 38% - - - - - NULL FBXO34 55030 genome.wustl.edu 37 14 55817179 55817179 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017943.3 +1 validated p.R24I 0.003 161 0% 62 40.3% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL FBXO34 55030 genome.wustl.edu 37 14 55817915 55817915 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017943.3 +1 validated p.V269 0.019 160 0% 86 44.2% - - - - - NULL KTN1 3895 genome.wustl.edu 37 14 56114761 56114761 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079521.1 +1 validated p.E742D 1.000 213 0% 79 32.9% - - benign(0.023) tolerated(0.37) neutral(0.020) superfamily_Spectrin repeat KTN1 3895 genome.wustl.edu 37 14 56134017 56134017 + Nonsense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079521.1 +1 validated p.L1079* 1.000 381 0% 152 40.1% - - - - - NULL PELI2 57161 genome.wustl.edu 37 14 56755201 56755201 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021255.2 +1 validated p.T119M 1.000 173 0% 104 30.8% - - benign(0.399) deleterious(0) deleterious(0.573) HMMPfam_Pellino PELI2 57161 genome.wustl.edu 37 14 56757106 56757106 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021255.2 +1 validated p.E210K 1.000 142 0% 84 42.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pellino OTX2 5015 genome.wustl.edu 37 14 57268559 57268559 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021728.2 -1 reviewed p.D263G 1.000 330 0% 166 40.4% - - probably_damaging(0.984) deleterious(0.01) deleterious(0.836) NULL EXOC5 10640 genome.wustl.edu 37 14 57675371 57675371 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006544.3 -1 reviewed p.R695C 1.000 209 0% 99 37.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec10 EXOC5 10640 genome.wustl.edu 37 14 57689054 57689054 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006544.3 -1 reviewed p.I459 1.000 247 0% 114 34.2% - - - - - HMMPfam_Sec10 MUDENG 55745 genome.wustl.edu 37 14 57748865 57748865 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018229.3 +1 validated p.R336I 1.000 206 0% 83 39.8% - - benign(0.005) deleterious(0.02) neutral(0.383) HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor NAA30 122830 genome.wustl.edu 37 14 57876212 57876212 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001011713.2 +1 validated p.R356Q 1.000 269 0% 135 30.4% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) superfamily_Acyl-CoA N-acyltransferases (Nat) C14orf105 55195 genome.wustl.edu 37 14 57960280 57960280 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018168.2 -1 validated p.D52N 0.324 282 0% 155 36.1% - - possibly_damaging(0.944) tolerated(0.19) neutral(0.438) NULL C14orf37 145407 genome.wustl.edu 37 14 58471516 58471516 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001872.2 -1 predicted p.E755* 1.000 264 0% 110 22.7% - - - - - NULL C14orf37 145407 genome.wustl.edu 37 14 58563625 58563625 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001872.2 -1 predicted p.E636* 1.000 1089 0% 681 35.2% - - - - - NULL PSMA3 5684 genome.wustl.edu 37 14 58734218 58734218 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002788.2 +1 reviewed p.I190 0.997 190 0% 94 39.4% - - - - - HMMPfam_Proteasome,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) ARID4A 5926 genome.wustl.edu 37 14 58831821 58831821 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002892.3 +1 reviewed p.V1005A 0.062 297 0% 118 32.2% - - benign(0.014) tolerated(0.14) neutral(0.250) NULL ARID4A 5926 genome.wustl.edu 37 14 58833724 58833724 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002892.3 +1 reviewed p.R1216I 1.000 147 0% 47 25.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIAA0586 9786 genome.wustl.edu 37 14 58899111 58899111 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014749.3 +1 validated p.D116Y 1.000 174 0% 59 37.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA0586 9786 genome.wustl.edu 37 14 58909487 58909487 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014749.3 +1 validated p.E158D 0.504 198 0% 89 29.2% - - benign(0.117) deleterious(0.04) neutral(0.358) NULL KIAA0586 9786 genome.wustl.edu 37 14 58917322 58917322 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014749.3 +1 validated p.T329 0.000 133 0% 58 29.3% - - - - - NULL KIAA0586 9786 genome.wustl.edu 37 14 58953845 58953845 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014749.3 +1 validated p.D1013Y 0.006 494 0% 196 23.5% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL DACT1 51339 genome.wustl.edu 37 14 59112520 59112520 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016651.5 +1 validated p.K393N 1.000 107 0% 58 37.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C14orf38 729665 genome.wustl.edu 37 14 59992057 59992057 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000281581 -1 known p.F646L 0.997 624 0% 288 36.1% - - benign(0) tolerated(0.54) neutral(0.007) NULL RTN1 6252 genome.wustl.edu 37 14 60194387 60194387 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021136.2 -1 reviewed e3-1 1.000 31 0% 18 33.3% - - - - - - C14orf135 64430 genome.wustl.edu 37 14 60581970 60581970 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022495.5 +1 validated p.S149F 0.983 377 0% 189 15.9% - - benign(0.234) deleterious(0.03) neutral(0.388) NULL C14orf135 64430 genome.wustl.edu 37 14 60591794 60591794 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022495.5 +1 validated p.D735Y 1.000 414 0% 190 32.1% - - benign(0.4) deleterious(0.01) deleterious(0.534) NULL DHRS7 51635 genome.wustl.edu 37 14 60616810 60616810 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016029.2 -1 validated p.E243D 0.994 146 0% 64 48.4% - - possibly_damaging(0.451) tolerated(0.48) neutral(0.158) superfamily_NAD(P)-binding Rossmann-fold domains PPM1A 5494 genome.wustl.edu 37 14 60749553 60749553 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_177952.2 +1 reviewed p.I117 0.364 764 0% 508 39% - - - - - HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C PPM1A 5494 genome.wustl.edu 37 14 60749942 60749942 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_177952.2 +1 reviewed p.R247Q 1.000 204 0% 119 18.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C C14orf39 317761 genome.wustl.edu 37 14 60921766 60921766 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_174978.2 -1 validated p.N486H 1.000 145 0% 54 51.9% - - unknown(0) deleterious(0) - NULL C14orf39 317761 genome.wustl.edu 37 14 60936346 60936346 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_174978.2 -1 validated p.D194Y 1.000 278 0% 107 22.4% - - possibly_damaging(0.882) deleterious(0) deleterious(0.789) NULL SIX6 4990 genome.wustl.edu 37 14 60976364 60976364 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007374.2 +1 reviewed p.S83L 1.000 83 0% 48 29.2% - - possibly_damaging(0.943) tolerated(0.33) neutral(0.412) NULL SIX4 51804 genome.wustl.edu 37 14 61180560 61180560 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017420.4 -1 reviewed p.I637 0.996 329 0% 168 12.5% - - - - - NULL SIX4 51804 genome.wustl.edu 37 14 61186478 61186478 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017420.4 -1 reviewed p.G517C 1.000 111 0% 83 34.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HIF1A 3091 genome.wustl.edu 37 14 62187117 62187117 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001530.3 +1 validated p.R18Q 1.000 278 0% 151 33.1% - - probably_damaging(0.963) deleterious(0.01) deleterious(0.811) superfamily_HLH helix-loop-helix DNA-binding domain HIF1A 3091 genome.wustl.edu 37 14 62200971 62200971 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001530.3 +1 validated p.P332 1.000 263 0% 177 35% - - - - - HMMSmart_SM00086,HMMPfam_PAS_3,superfamily_PYP-like sensor domain (PAS domain) HIF1A 3091 genome.wustl.edu 37 14 62207327 62207327 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001530.3 +1 validated p.K547N 1.000 338 0% 140 37.1% - - benign(0.218) tolerated(0.07) neutral(0.341) NULL SNAPC1 6617 genome.wustl.edu 37 14 62233749 62233749 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003082.3 +1 validated p.Q95P 1.000 336 0% 173 42.2% - - probably_damaging(0.996) tolerated(0.33) deleterious(0.486) HMMPfam_SNAPc_SNAP43 KCNH5 27133 genome.wustl.edu 37 14 63174459 63174459 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139318.3 -1 reviewed p.E912K 1.000 341 0% 182 36.8% - - possibly_damaging(0.876) deleterious(0.02) deleterious(0.724) NULL KCNH5 27133 genome.wustl.edu 37 14 63269215 63269215 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139318.3 -1 reviewed p.R552* 1.000 140 0% 64 29.7% - - - - - HMMSmart_SM00100,superfamily_cAMP-binding domain-like GPHB5 122876 genome.wustl.edu 37 14 63784538 63784538 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145171.2 -1 validated p.G9D 0.386 88 0% 50 32% - - - - - NULL WDR89 112840 genome.wustl.edu 37 14 64066239 64066239 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008726.1 -1 validated p.A141V 0.998 271 0% 165 41.2% - - possibly_damaging(0.903) tolerated(0.33) neutral(0.382) superfamily_WD40_like SYNE2 23224 genome.wustl.edu 37 14 64460578 64460578 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182914.2 +1 reviewed p.K891T 0.032 141 0% 59 22% - - probably_damaging(0.955) - - NULL SYNE2 23224 genome.wustl.edu 37 14 64484465 64484465 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182914.2 +1 reviewed p.E1680D 0.102 205 0% 98 12.2% - - benign(0.04) - - NULL SYNE2 23224 genome.wustl.edu 37 14 64491104 64491104 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182914.2 +1 reviewed p.E1923K 0.880 208 0% 110 39.1% - - probably_damaging(0.979) - - superfamily_Spectrin SYNE2 23224 genome.wustl.edu 37 14 64494408 64494408 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182914.2 +1 reviewed p.S2204Y 1.000 160 0% 59 23.7% - - probably_damaging(0.99) - - superfamily_Spectrin SYNE2 23224 genome.wustl.edu 37 14 64655376 64655376 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182914.2 +1 reviewed p.L5941I 0.779 221 0% 98 38.8% - - probably_damaging(0.981) tolerated(0.08) deleterious(0.726) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin MTHFD1 4522 genome.wustl.edu 37 14 64908849 64908849 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005956.3 +1 reviewed p.I654 0.324 270 0% 177 40.7% - - - - - HMMPfam_FTHFS,superfamily_P-loop containing nucleoside triphosphate hydrolases ZBTB25 7597 genome.wustl.edu 37 14 64954645 64954645 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006977.2 -1 validated p.L102I 1.000 144 0% 91 30.8% - - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB ZBTB1 22890 genome.wustl.edu 37 14 64989825 64989825 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001123329.1 +1 validated p.R535* 1.000 405 0% 228 32.9% - - - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2 MAX 4149 genome.wustl.edu 37 14 65568302 65568302 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000441116 -1 known p.L16I 1.000 121 0% 49 36.7% - - - - - NULL MPP5 64398 genome.wustl.edu 37 14 67787792 67787792 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022474.2 +1 validated p.R519Q 1.000 305 0% 233 39.9% - - possibly_damaging(0.816) deleterious(0.03) deleterious(0.673) HMMPfam_Guanylate_kin,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,superfamily_P-loop containing nucleoside triphosphate hydrolases MPP5 64398 genome.wustl.edu 37 14 67787844 67787844 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022474.2 +1 validated p.F536 0.988 392 0% 223 34.1% - - - - - HMMPfam_Guanylate_kin,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases ATP6V1D 51382 genome.wustl.edu 37 14 67819710 67819710 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015994.2 -1 reviewed p.R30Q 1.000 502 0% 251 30.7% - - possibly_damaging(0.836) deleterious(0) deleterious(0.764) HMMPfam_ATP-synt_D TMEM229B 161145 genome.wustl.edu 37 14 67940317 67940317 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182526.2 -1 provisional p.F108 0.999 173 0% 103 33% - - - - - NULL TMEM229B 161145 genome.wustl.edu 37 14 67940503 67940503 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182526.2 -1 provisional p.S46 1.000 51 0% 42 28.6% - - - - - NULL PLEKHH1 57475 genome.wustl.edu 37 14 68041026 68041026 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020715.2 +1 validated p.R665Q 0.997 183 0% 69 30.4% - - probably_damaging(0.997) tolerated(0.1) deleterious(0.752) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like PIGH 5283 genome.wustl.edu 37 14 68060601 68060601 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004569.3 -1 reviewed p.V83 1.000 272 0% 140 37.9% - - - - - NULL RAD51B 5890 genome.wustl.edu 37 14 68353772 68353772 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133509.2 +1 reviewed p.G203* 0.871 131 0% 75 38.7% - - - - - HMMSmart_SM00382,HMMPfam_Rad51,superfamily_P-loop containing nucleoside triphosphate hydrolases ACTN1 87 genome.wustl.edu 37 14 69360390 69360390 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130004.1 -1 reviewed p.Y279 0.970 212 0% 151 33.1% - - - - - HMMPfam_Spectrin,superfamily_Spectrin GALNTL1 57452 genome.wustl.edu 37 14 69792090 69792090 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020692.2 +1 validated p.E157 1.000 463 0% 360 30.3% - - - - - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases ERH 2079 genome.wustl.edu 37 14 69861567 69861567 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004450.2 -1 validated p.Y22 0.940 398 0% 206 11.2% - - - - - HMMPfam_ER SRSF5 6430 genome.wustl.edu 37 14 70235601 70235601 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039465.1 +1 validated p.R95Q 1.000 245 0% 145 33.1% - - benign(0.072) tolerated(0.38) neutral(0.023) superfamily_RNA-binding domain RBD SRSF5 6430 genome.wustl.edu 37 14 70237222 70237222 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000344070 +1 known p.V131I 0.998 239 0% 91 36.3% - - - - - NULL ENSG00000235812 0 genome.wustl.edu 37 14 70713296 70713296 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000433248 -1 known p.R191I 0.002 815 0% 366 23.5% - - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" COX16 51241 genome.wustl.edu 37 14 70809447 70809447 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016468.5 -1 validated e2-1 1.000 350 0% 140 30.7% - - - - - - SIPA1L1 26037 genome.wustl.edu 37 14 72176161 72176161 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015556.1 +1 provisional p.R1351C 0.978 71 0% 33 33.3% - - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL SIPA1L1 26037 genome.wustl.edu 37 14 72197010 72197010 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015556.1 +1 provisional p.S1639L 0.995 165 0% 102 33.3% - - benign(0.265) deleterious(0.01) neutral(0.433) NULL SIPA1L1 26037 genome.wustl.edu 37 14 72204987 72204987 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015556.1 +1 provisional p.S1739Y 1.000 355 0% 217 10.6% - - probably_damaging(0.984) deleterious(0.01) deleterious(0.836) NULL SIPA1L1 26037 genome.wustl.edu 37 14 72205025 72205025 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015556.1 +1 provisional p.R1752W 1.000 279 0% 168 18.5% - - possibly_damaging(0.946) deleterious(0) deleterious(0.835) NULL ZFYVE1 53349 genome.wustl.edu 37 14 73444681 73444681 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021260.1 -1 reviewed p.P530H 1.000 473 0% 267 40.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZFYVE1 53349 genome.wustl.edu 37 14 73464710 73464710 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021260.1 -1 reviewed p.R266Q 1.000 184 0% 131 19.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases RBM25 58517 genome.wustl.edu 37 14 73544152 73544152 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021239.2 +1 validated p.E78* 1.000 369 0% 184 35.3% - - - - - NULL PAPLN 89932 genome.wustl.edu 37 14 73712393 73712393 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173462.3 +1 validated p.C74R 0.993 65 0% 39 38.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 PAPLN 89932 genome.wustl.edu 37 14 73716781 73716781 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173462.3 +1 validated p.E142K 1.000 190 0% 128 40.6% - - probably_damaging(0.953) tolerated(0.18) neutral(0.453) NULL PAPLN 89932 genome.wustl.edu 37 14 73732177 73732177 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173462.3 +1 validated p.I1048 0.966 53 0% 30 46.7% - - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 C14orf43 91748 genome.wustl.edu 37 14 74186037 74186037 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001043318.1 -1 validated p.E1035 1.000 212 0% 114 32.5% - - - - - NULL ZNF410 57862 genome.wustl.edu 37 14 74363231 74363231 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021188.1 +1 provisional p.R128 1.000 168 0% 85 36.5% - - - - - NULL VSX2 338917 genome.wustl.edu 37 14 74706381 74706381 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182894.2 +1 reviewed p.G39 1.000 35 0.000 8 0.625 - - - - - NULL ABCD4 5826 genome.wustl.edu 37 14 74761882 74761882 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005050.3 -1 reviewed p.R230W 1.000 244 0% 146 39% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_membrane_2,superfamily_ABC_TM_1 LTBP2 4053 genome.wustl.edu 37 14 74988688 74988688 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000428.2 -1 reviewed p.R905H 0.021 166 0% 114 33.3% - - possibly_damaging(0.72) deleterious(0.01) deleterious(0.667) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin FCF1 51077 genome.wustl.edu 37 14 75180199 75180199 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015962.4 +1 validated p.K5N 1.000 214 0.5% 92 32.6% - - possibly_damaging(0.6) tolerated(0.06) deleterious(0.530) NULL YLPM1 56252 genome.wustl.edu 37 14 75230708 75230708 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019589.2 +1 validated p.P172 0.998 301 0.3% 149 39.6% - - - - - NULL YLPM1 56252 genome.wustl.edu 37 14 75247187 75247187 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019589.2 +1 validated p.R397Q 1.000 241 0% 157 33.8% - - unknown(0) deleterious(0.01) - NULL YLPM1 56252 genome.wustl.edu 37 14 75276969 75276969 + Missense_Mutation SNP C C T rs190418068 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019589.2 +1 validated p.R1692C 0.978 148 0% 85 37.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ACYP1 97 genome.wustl.edu 37 14 75520362 75520362 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001107.3 -1 reviewed p.A29T 1.000 286 0% 199 36.7% - - unknown(0) - - HMMPfam_Acylphosphatase,superfamily_Acylphosphatase-like ZC2HC1C 79696 genome.wustl.edu 37 14 75537699 75537699 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024643.2 +1 validated p.L141F 1.000 180 0% 104 38.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TMED10 10972 genome.wustl.edu 37 14 75602546 75602546 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006827.5 -1 reviewed p.R152Q 0.995 339 0% 168 41.1% - - probably_damaging(0.956) deleterious(0.03) deleterious(0.764) HMMPfam_EMP24_GP25L FOS 2353 genome.wustl.edu 37 14 75746797 75746797 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005252.3 +1 reviewed p.A120V 0.996 68 0% 33 27.3% - - benign(0.009) tolerated(0.06) neutral(0.323) NULL C14orf1 11161 genome.wustl.edu 37 14 76121302 76121302 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007176.2 -1 validated p.R51W 1.000 275 0% 157 40.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Erg28 C14orf166B 145497 genome.wustl.edu 37 14 77304288 77304288 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194287.2 +1 validated p.S190Y 0.443 366 0% 174 32.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00368,superfamily_RNI-like TMEM63C 57156 genome.wustl.edu 37 14 77706878 77706878 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020431.2 +1 validated p.E331K 1.000 51 0% 38 47.4% - - probably_damaging(0.999) tolerated(0.18) deleterious(0.546) NULL TMEM63C 57156 genome.wustl.edu 37 14 77709312 77709312 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020431.2 +1 validated p.F418 1.000 319 0% 231 16.5% - - - - - HMMPfam_DUF221 TMEM63C 57156 genome.wustl.edu 37 14 77714836 77714836 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020431.2 +1 validated p.R583I 1.000 214 0% 134 32.1% - - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) HMMPfam_DUF221 GSTZ1 2954 genome.wustl.edu 37 14 77793201 77793201 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145870.2 +1 reviewed p.D30N 0.350 109 0% 68 41.2% - - benign(0.001) tolerated(0.31) neutral(0.027) HMMPfam_GST_N,superfamily_Thioredoxin-like SPTLC2 9517 genome.wustl.edu 37 14 77984495 77984495 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004863.2 -1 validated p.E485D 1.000 176 0% 68 29.4% - - possibly_damaging(0.767) tolerated(0.09) deleterious(0.581) HMMPfam_Aminotran_1_2,superfamily_PyrdxlP-dep_Trfase_major SPTLC2 9517 genome.wustl.edu 37 14 78063597 78063597 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004863.2 -1 validated p.L87I 1.000 366 0% 182 34.6% - - benign(0.072) tolerated(0.78) neutral(0.006) NULL NRXN3 9369 genome.wustl.edu 37 14 79117578 79117578 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004796.4 +1 reviewed p.S4L 1.000 266 0% 155 40% - - benign(0.205) deleterious(0) neutral(0.465) superfamily_ConA_like_lec_gl NRXN3 9369 genome.wustl.edu 37 14 79434659 79434659 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004796.4 +1 reviewed p.R665W 0.997 257 0% 145 40.7% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) superfamily_ConA_like_lec_gl CEP128 145508 genome.wustl.edu 37 14 81251485 81251485 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152446.3 -1 validated p.E655 1.000 428 0% 270 17% - - - - - NULL GTF2A1 2957 genome.wustl.edu 37 14 81646649 81646649 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015859.2 -1 validated p.K350T 1.000 226 0% 100 29% - - possibly_damaging(0.806) deleterious(0) deleterious(0.748) HMMPfam_TFIIA,superfamily_Transcription factor IIA (TFIIA) beta-barrel domain GTF2A1 2957 genome.wustl.edu 37 14 81662506 81662506 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015859.2 -1 validated p.Q186 0.995 422 0.2% 210 43.3% - - - - - HMMPfam_TFIIA GTF2A1 2957 genome.wustl.edu 37 14 81682762 81682762 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015859.2 -1 validated p.K43E 1.000 223 0% 90 11.1% - - possibly_damaging(0.892) deleterious(0) deleterious(0.796) HMMPfam_TFIIA,superfamily_Transcription factor IIA (TFIIA) alpha-helical domain FLRT2 23768 genome.wustl.edu 37 14 86089454 86089454 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013231.4 +1 reviewed p.T532 0.235 118 0% 53 45.3% - - - - - NULL FLRT2 23768 genome.wustl.edu 37 14 86089685 86089685 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013231.4 +1 reviewed p.I609 0.995 69 0% 30 33.3% - - - - - NULL GALC 2581 genome.wustl.edu 37 14 88442795 88442795 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000153.2 -1 reviewed p.R220Q 0.056 244 0% 127 40.2% - - benign(0.003) tolerated(0.63) neutral(0.004) HMMPfam_Glyco_hydro_59,superfamily_(Trans)glycosidases GPR65 8477 genome.wustl.edu 37 14 88478112 88478112 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003608.3 +1 validated p.F307L 0.926 194 0% 122 35.2% - - benign(0) tolerated(0.66) neutral(0.003) superfamily_Family A G protein-coupled receptor-like SPATA7 55812 genome.wustl.edu 37 14 88904673 88904673 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018418.4 +1 reviewed p.F569L 0.000 118 0% 64 28.1% - - benign(0) tolerated(0.28) neutral(0.032) NULL PTPN21 11099 genome.wustl.edu 37 14 88936376 88936376 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007039.3 -1 reviewed p.E964K 1.000 361 0% 151 35.1% - - possibly_damaging(0.78) deleterious(0.03) deleterious(0.656) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTPN21 11099 genome.wustl.edu 37 14 88962818 88962818 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007039.3 -1 reviewed p.K291E 1.000 199 0% 101 39.6% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_FERM_C,superfamily_PH domain-like ZC3H14 79882 genome.wustl.edu 37 14 89044481 89044481 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024824.4 +1 validated p.Q426K 0.999 78 0% 25 44% - - benign(0) tolerated(0.6) neutral(0.004) NULL EML5 161436 genome.wustl.edu 37 14 89093199 89093199 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_183387.2 -1 validated p.A1575T 0.974 199 0% 126 17.5% - - benign(0.043) tolerated(0.27) neutral(0.036) HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase EML5 161436 genome.wustl.edu 37 14 89171831 89171831 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_183387.2 -1 validated p.R643* 1.000 211 0% 97 28.9% - - - - - NULL FOXN3 1112 genome.wustl.edu 37 14 89878785 89878785 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001085471.1 -1 reviewed p.E12D 1.000 114 0% 70 11.4% - - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL EFCAB11 90141 genome.wustl.edu 37 14 90398912 90398912 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145231.2 -1 validated p.R93W 0.129 341 0.3% 154 41.6% - - benign(0.006) tolerated(0.18) neutral(0.056) superfamily_EF-hand EFCAB11 90141 genome.wustl.edu 37 14 90416477 90416477 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145231.2 -1 validated p.D61N 0.809 169 0% 95 22.1% - - - - - superfamily_EF-hand TDP1 55775 genome.wustl.edu 37 14 90450938 90450938 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008744.1 +1 reviewed p.A321 0.997 375 0% 189 35.4% - - - - - HMMPfam_Tyr-DNA_phospho,superfamily_SSF56024 KCNK13 56659 genome.wustl.edu 37 14 90651042 90651042 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022054.2 +1 reviewed p.R308* 0.004 58 0% 53 34% - - - - - NULL C14orf102 55051 genome.wustl.edu 37 14 90756674 90756674 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017970.2 -1 validated p.R707Q 0.969 155 0% 101 36.6% - - possibly_damaging(0.885) tolerated(0.37) neutral(0.365) superfamily_Prenyl_trans CALM1 801 genome.wustl.edu 37 14 90870756 90870756 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006888.4 +1 reviewed p.R107C 1.000 482 0% 253 36.8% - - benign(0.124) deleterious(0.01) neutral(0.416) HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand RPS6KA5 9252 genome.wustl.edu 37 14 91366479 91366479 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004755.2 -1 validated p.A451D 0.994 258 0% 115 33.9% - - benign(0) tolerated(0.12) neutral(0.261) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase C14orf159 80017 genome.wustl.edu 37 14 91636380 91636380 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001102368.1 +1 validated p.F97 0.005 82 0% 54 48.1% - - - - - NULL SMEK1 55671 genome.wustl.edu 37 14 91929137 91929137 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032560.4 -1 validated p.G626* 1.000 634 0% 378 38.9% - - - - - NULL CATSPERB 79820 genome.wustl.edu 37 14 92074695 92074695 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024764.2 -1 validated p.N884K 1.000 484 0% 221 33% - - benign(0.316) deleterious(0.03) neutral(0.464) NULL TRIP11 9321 genome.wustl.edu 37 14 92454635 92454635 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004239.3 -1 reviewed p.K1751N 1.000 269 0% 144 45.1% - - possibly_damaging(0.611) tolerated(0.15) neutral(0.453) NULL TRIP11 9321 genome.wustl.edu 37 14 92472695 92472695 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004239.3 -1 reviewed p.R542I 0.851 221 0% 129 20.2% - - probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL CPSF2 53981 genome.wustl.edu 37 14 92621536 92621536 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017437.1 +1 validated p.T437 0.004 251 0% 109 30.3% - - - - - NULL RIN3 79890 genome.wustl.edu 37 14 93043734 93043734 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024832.3 +1 validated p.S93 0.034 193 0% 83 21.7% - - - - - HMMSmart_SM00252,superfamily_SH2 domain GOLGA5 9950 genome.wustl.edu 37 14 93290966 93290966 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005113.2 +1 reviewed p.E566* 1.000 258 0% 112 38.4% - - - - - HMMPfam_Golgin_A5 GOLGA5 9950 genome.wustl.edu 37 14 93299583 93299583 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005113.2 +1 reviewed p.K612N 1.000 143 0.7% 96 40.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Golgin_A5 C14orf109 26175 genome.wustl.edu 37 14 93652955 93652955 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098621.1 +1 predicted p.R150H 1.000 170 0.6% 163 32.5% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL UBR7 55148 genome.wustl.edu 37 14 93686646 93686646 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175748.3 +1 validated p.V338I 1.000 112 0% 61 21.3% - - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL BTBD7 55727 genome.wustl.edu 37 14 93730195 93730195 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001002860.2 -1 validated p.S436L 1.000 234 0% 122 36.9% - - benign(0.296) deleterious(0) deleterious(0.536) HMMPfam_BACK UNC79 57578 genome.wustl.edu 37 14 94069764 94069764 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020818.3 +1 validated p.R1075* 1.000 256 0% 141 31.9% - - - - - NULL PRIMA1 145270 genome.wustl.edu 37 14 94203593 94203593 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178013.3 -1 reviewed p.I118R 1.000 210 0% 115 10.4% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL ASB2 51676 genome.wustl.edu 37 14 94405676 94405676 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016150.3 -1 reviewed p.A417 0.998 30 0% 26 30.8% - - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat OTUB2 78990 genome.wustl.edu 37 14 94512187 94512187 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023112.3 +1 validated p.F208L 1.000 191 0% 138 43.5% - - benign(0.13) deleterious(0.01) neutral(0.417) HMMPfam_Peptidase_C65,superfamily_Cysteine proteinases PPP4R4 57718 genome.wustl.edu 37 14 94725646 94725646 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_058237.1 +1 reviewed p.F689L 1.000 132 0% 73 42.5% - - benign(0.007) tolerated(0.94) - NULL SERPINA12 145264 genome.wustl.edu 37 14 94962931 94962931 + Missense_Mutation SNP G G T rs34365882 byCluster;byFrequency TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173850.2 -1 provisional p.F228L 0.462 177 0% 147 40.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINA4 5267 genome.wustl.edu 37 14 95034559 95034559 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006215.2 +1 provisional p.T339 0.000 310 0.3% 152 15.8% - - - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINA5 5104 genome.wustl.edu 37 14 95053897 95053897 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000624.4 +1 validated p.F66L 1.000 82 0% 39 15.4% - - probably_damaging(0.998) tolerated(0.11) deleterious(0.746) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINA5 5104 genome.wustl.edu 37 14 95054134 95054134 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000624.4 +1 validated p.F145 0.267 134 0% 74 35.1% - - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins DICER1 23405 genome.wustl.edu 37 14 95557660 95557660 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030621.3 -1 reviewed p.E1803K 1.000 540 0% 223 36.3% - - possibly_damaging(0.901) deleterious(0) deleterious(0.801) HMMPfam_Ribonuclease_3,HMMSmart_RIBOc,superfamily_RNase_III DICER1 23405 genome.wustl.edu 37 14 95570150 95570150 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030621.3 -1 reviewed p.D1195N 1.000 380 0% 232 38.4% - - benign(0.15) tolerated(0.26) neutral(0.047) NULL DICER1 23405 genome.wustl.edu 37 14 95572534 95572534 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030621.3 -1 reviewed p.R944Q 1.000 191 0% 138 35.5% - - probably_damaging(0.999) tolerated(0.19) deleterious(0.540) HMMPfam_PAZ,superfamily_SSF101690 DICER1 23405 genome.wustl.edu 37 14 95582863 95582863 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030621.3 -1 reviewed p.Y560C 1.000 263 0% 183 23% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 DICER1 23405 genome.wustl.edu 37 14 95590633 95590633 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030621.3 -1 reviewed p.E426* 1.000 294 0% 157 16.6% - - - - - superfamily_SSF52540 CLMN 79789 genome.wustl.edu 37 14 95669414 95669414 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024734.3 -1 validated p.E758K 0.003 99 0% 69 30.4% - - probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL CLMN 79789 genome.wustl.edu 37 14 95669415 95669415 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024734.3 -1 validated p.L757 0.000 98 0% 69 31.9% - - - - - NULL CLMN 79789 genome.wustl.edu 37 14 95669993 95669993 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024734.3 -1 validated p.K565E 0.008 311 0% 162 35.2% - - benign(0.42) deleterious(0) deleterious(0.581) NULL CLMN 79789 genome.wustl.edu 37 14 95670788 95670788 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024734.3 -1 validated p.D300N 0.733 149 0% 94 14.9% - - benign(0.106) tolerated(0.95) neutral(0.008) NULL C14orf49 161176 genome.wustl.edu 37 14 95921973 95921973 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152592.3 -1 validated p.L293S 0.968 104 0% 57 36.8% - - probably_damaging(1) tolerated(0.51) deleterious(0.509) HMMSmart_SM00150,superfamily_Spectrin repeat BDKRB2 624 genome.wustl.edu 37 14 96706744 96706744 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000623.3 +1 reviewed p.D27N 0.015 32 0% 30 33.3% - - benign(0.011) deleterious(0.01) neutral(0.406) NULL BDKRB2 624 genome.wustl.edu 37 14 96707170 96707170 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000623.3 +1 reviewed p.R169C 1.000 67 0% 75 42.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ATG2B 55102 genome.wustl.edu 37 14 96752156 96752156 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018036.5 -1 validated p.R2058I 1.000 295 0% 179 37.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ATG_C AK7 122481 genome.wustl.edu 37 14 96924468 96924468 + Missense_Mutation SNP G G A rs149622950 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152327.2 +1 validated p.E426K 0.682 229 0% 117 33.3% - - benign(0.004) tolerated(0.71) neutral(0.002) superfamily_P-loop containing nucleoside triphosphate hydrolases PAPOLA 10914 genome.wustl.edu 37 14 97009137 97009137 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032632.3 +1 validated p.R399Q 1.000 455 0% 170 37.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAP_RNA-bind,superfamily_PAP/Archaeal CCA-adding enzyme C-terminal domain VRK1 7443 genome.wustl.edu 37 14 97322563 97322563 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003384.2 +1 reviewed p.K269R 0.979 229 0% 87 42.5% - - benign(0.002) tolerated(0.52) neutral(0.009) superfamily_Kinase_like BCL11B 64919 genome.wustl.edu 37 14 99642514 99642514 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138576.2 -1 reviewed p.S220I 1.000 30 0% 23 39.1% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_C2H2 and C2HC zinc fingers SETD3 84193 genome.wustl.edu 37 14 99865291 99865291 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032233.2 -1 validated p.E504* 1.000 358 0% 233 32.6% - - - - - superfamily_RuBisCo LSMT C-terminal substrate-binding domain SETD3 84193 genome.wustl.edu 37 14 99866564 99866564 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032233.2 -1 validated p.A404T 0.999 194 0% 115 37.4% - - probably_damaging(0.983) tolerated(0.19) deleterious(0.478) HMMPfam_Rubis-subs-bind,superfamily_RuBisCo LSMT C-terminal substrate-binding domain SETD3 84193 genome.wustl.edu 37 14 99929845 99929845 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032233.2 -1 validated p.E58D 1.000 353 0% 178 34.3% - - probably_damaging(1) tolerated(0.28) deleterious(0.531) NULL CCNK 8812 genome.wustl.edu 37 14 99968607 99968607 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099402.1 +1 reviewed p.L213 0.011 368 0% 222 40.1% - - - - - HMMSmart_SM00385,superfamily_Cyclin-like EML1 2009 genome.wustl.edu 37 14 100373991 100373991 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008707.1 +1 reviewed p.L361R 1.000 347 0% 138 39.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_WD40,superfamily_WD40_like DEGS2 123099 genome.wustl.edu 37 14 100613226 100613226 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_206918.2 -1 reviewed p.E282K 1.000 101 0% 67 47.8% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_FA_desaturase WARS 7453 genome.wustl.edu 37 14 100826997 100826997 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004184.3 -1 reviewed p.R106W 0.993 517 0% 314 36.6% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_Nucleotidylyl transferase RTL1 388015 genome.wustl.edu 37 14 101348447 101348447 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134888.2 -1 reviewed p.I893 0.000 94 0% 49 38.8% - - - - - superfamily_DNA/RNA polymerases RTL1 388015 genome.wustl.edu 37 14 101349060 101349060 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134888.2 -1 reviewed p.A689E 0.933 188 0% 154 37% - - possibly_damaging(0.894) deleterious(0) deleterious(0.796) superfamily_DNA/RNA polymerases RTL1 388015 genome.wustl.edu 37 14 101349578 101349578 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134888.2 -1 reviewed p.V516 0.933 80 0% 67 41.8% - - - - - superfamily_Acid proteases RTL1 388015 genome.wustl.edu 37 14 101349960 101349960 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134888.2 -1 reviewed p.R389M 0.994 65 0% 48 41.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MIR411 693121 genome.wustl.edu 37 14 101489672 101489672 + RNA SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000362239 +1 known NULL 1.000 224 0% 147 46.3% - - - - - - MIR1247 100302145 genome.wustl.edu 37 14 102026722 102026722 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000408206 -1 known NULL 1.000 16 0.000 6 0.667 - - - - - - DIO3 1735 genome.wustl.edu 37 14 102028017 102028017 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001362.3 +1 reviewed p.L36I 0.955 53 0% 48 25% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_T4_deiodinase DYNC1H1 1778 genome.wustl.edu 37 14 102478316 102478316 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001376.4 +1 reviewed p.L2241 1.000 288 0% 185 33% - - - - - HMMSmart_AAA,HMMPfam_AAA_5,superfamily_SSF52540 DYNC1H1 1778 genome.wustl.edu 37 14 102508812 102508812 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001376.4 +1 reviewed p.R4123* 0.850 157 0% 121 35.5% - - - - - HMMPfam_Dynein_heavy DYNC1H1 1778 genome.wustl.edu 37 14 102514870 102514870 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001376.4 +1 reviewed p.F4412L 1.000 147 0% 58 32.8% - - possibly_damaging(0.57) tolerated(0.14) neutral(0.445) HMMPfam_Dynein_heavy HSP90AA1 3320 genome.wustl.edu 37 14 102568360 102568360 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017963.2 -1 validated p.S73Y 0.027 183 0% 111 35.1% - - unknown(0) - - NULL WDR20 91833 genome.wustl.edu 37 14 102676054 102676054 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181291.1 +1 reviewed p.R516Q 1.000 179 0% 129 24% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_WD40_like WDR20 91833 genome.wustl.edu 37 14 102676097 102676097 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181291.1 +1 reviewed p.K530N 1.000 200 0.5% 136 16.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40_like MOK 5891 genome.wustl.edu 37 14 102749863 102749863 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014226.1 -1 provisional p.R25K 0.985 711 0% 366 25.1% - - unknown(0) tolerated(0.34) - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase TECPR2 9895 genome.wustl.edu 37 14 102843182 102843182 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014844.3 +1 validated p.D42N 1.000 174 0% 142 14.1% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMSmart_WD40,superfamily_WD40_like RCOR1 23186 genome.wustl.edu 37 14 103173724 103173724 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015156.2 +1 validated p.E176K 1.000 450 0% 224 11.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CDC42BPB 9578 genome.wustl.edu 37 14 103452887 103452887 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006035.3 -1 reviewed p.D209 0.933 516 0% 241 36.5% - - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase TNFAIP2 7127 genome.wustl.edu 37 14 103596438 103596438 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006291.2 +1 reviewed p.E359K 1.000 40 0% 39 30.8% - - probably_damaging(1) tolerated(0.38) deleterious(0.517) HMMPfam_Sec6 MARK3 4140 genome.wustl.edu 37 14 103941404 103941404 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128918.1 +1 validated p.E447* 1.000 163 0% 114 34.2% - - - - - NULL BAG5 9529 genome.wustl.edu 37 14 104026334 104026334 + Nonsense_Mutation SNP G G A rs182208325 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001015049.1 -1 reviewed p.R431* 0.501 138 0% 81 46.9% - - - - - HMMPfam_BAG,HMMSmart_SM00264,superfamily_BAG domain BAG5 9529 genome.wustl.edu 37 14 104027073 104027073 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001015049.1 -1 reviewed p.I184 0.949 250 0% 136 36% - - - - - NULL KLC1 3831 genome.wustl.edu 37 14 104123969 104123969 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130107.1 +1 reviewed p.E116D 1.000 157 0% 89 19.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Rab5-bind,superfamily_TPR-like TDRD9 122402 genome.wustl.edu 37 14 104436888 104436888 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153046.2 +1 validated p.R259Q 1.000 418 0% 238 32.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases TDRD9 122402 genome.wustl.edu 37 14 104441821 104441821 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153046.2 +1 validated p.E314D 0.985 422 0% 267 40.8% - - possibly_damaging(0.909) tolerated(0.35) neutral(0.383) HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases TDRD9 122402 genome.wustl.edu 37 14 104472785 104472785 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153046.2 +1 validated p.L591F 1.000 255 0% 127 33.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_HA2,superfamily_P-loop containing nucleoside triphosphate hydrolases INF2 64423 genome.wustl.edu 37 14 105179822 105179822 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022489.3 +1 validated p.I973 1.000 77 0% 38 23.7% - - - - - HMMSmart_SM00498 AHNAK2 113146 genome.wustl.edu 37 14 105412067 105412067 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138420.2 -1 validated p.R3241C 0.001 372 0% 215 28.8% - - unknown(0) tolerated(0.1) - NULL AHNAK2 113146 genome.wustl.edu 37 14 105412322 105412322 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138420.2 -1 validated p.S3156P 0.003 412 0% 272 35.3% - - possibly_damaging(0.643) tolerated(0.26) neutral(0.260) NULL AHNAK2 113146 genome.wustl.edu 37 14 105419300 105419300 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138420.2 -1 validated p.D830Y 0.813 431 0% 322 30.7% - - benign(0.028) deleterious(0.01) neutral(0.407) NULL AHNAK2 113146 genome.wustl.edu 37 14 105423782 105423782 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138420.2 -1 validated p.E60K 0.923 55 0% 52 25% - - benign(0.02) deleterious(0) neutral(0.446) NULL C14orf79 122616 genome.wustl.edu 37 14 105455403 105455403 + Missense_Mutation SNP G G A rs145688822 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_174891.3 +1 validated p.V183I 0.000 324 0.3% 139 30.2% - - benign(0) tolerated(0.59) neutral(0.004) NULL BRF1 2972 genome.wustl.edu 37 14 105677495 105677495 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001519.2 -1 reviewed p.P654S 0.998 77 0% 59 32.2% - - benign(0.005) tolerated(0.67) neutral(0.003) NULL MTA1 9112 genome.wustl.edu 37 14 105924686 105924686 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004689.3 +1 reviewed p.I210 0.456 71 0% 37 29.7% - - - - - HMMPfam_ELM2 IGHG4 3503 genome.wustl.edu 37 14 106090888 106090888 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000390543 -1 known p.F303 0.021 374 0% 253 31.6% - - - - - PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 IGHD3-10 28499 genome.wustl.edu 37 14 106370371 106370371 + Silent SNP G G A rs188553983 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000390583 -1 known p.F5 0.001 357 0% 211 36.5% - - - - - NULL IGHV3-21 28444 genome.wustl.edu 37 14 106691939 106691939 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000390607 -1 known p.G29C 0.946 322 0% 221 35.7% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_V-set,superfamily_Immunoglobulin IGHV5-51 28388 genome.wustl.edu 37 14 107035135 107035135 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000390626 -1 known p.L10I 0.060 138 0% 81 33.3% - - benign(0.011) tolerated(0.12) neutral(0.261) NULL IGHV3-64 28414 genome.wustl.edu 37 14 107113742 107113742 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000454421 -1 known p.R118I 0.196 261 0% 142 12% - - possibly_damaging(0.913) deleterious(0) deleterious(0.809) HMMSmart_IGv,superfamily_SSF48726 IGHV3-72 28410 genome.wustl.edu 37 14 107198998 107198998 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000433072 -1 known p.K97 0.001 423 0% 242 14.5% - - - - - HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGHV3-72 28410 genome.wustl.edu 37 14 107199077 107199077 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000433072 -1 known p.R71I 0.000 442 0% 259 16.6% - - benign(0.139) tolerated(0.39) neutral(0.028) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGHV3-73 28409 genome.wustl.edu 37 14 107210933 107210933 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000390636 -1 known p.R119K 0.424 185 0% 94 36.2% - - benign(0.085) tolerated(0.17) neutral(0.065) HMMSmart_SM00406,superfamily_Immunoglobulin IGHV3-74 28408 genome.wustl.edu 37 14 107218742 107218742 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000424969 -1 known p.K95N 0.000 334 0.3% 205 41% - - benign(0.06) tolerated(0.08) neutral(0.304) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGHV7-81 28378 genome.wustl.edu 37 14 107283039 107283039 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000390639 -1 known p.A35V 0.277 311 0% 222 26.6% - - benign(0.309) tolerated(0.1) neutral(0.383) HMMPfam_V-set,superfamily_Immunoglobulin ENSG00000215407 0 genome.wustl.edu 37 15 20468127 20468127 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000400226 -1 known p.L58V 0.000 979 0% 398 11.8% - - - - - HMMPfam_BRO1 GOLGA6L6 727832 genome.wustl.edu 37 15 20740436 20740436 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145004.1 -1 inferred p.K438N 0.982 422 0% 397 8.3% - - unknown(0) deleterious(0.02) - NULL LOC727924 727924 genome.wustl.edu 37 15 22332609 22332609 + RNA SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_015416.1 +1 predicted NULL 0.779 568 0% 297 17.8% - - - - - - OR4M2 390538 genome.wustl.edu 37 15 22368776 22368776 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004719.2 +1 validated p.A67 0.472 1840 0.2% 837 18.9% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CYFIP1 23191 genome.wustl.edu 37 15 23002903 23002903 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014608.2 +1 validated p.R1209C 1.000 90 0% 51 37.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FragX_IP LOC100288671 100288671 genome.wustl.edu 37 15 23108824 23108824 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343316.1 -1 model p.E29* 1.000 33 0% 18 33.3% - - - - - NULL LOC283683 283683 genome.wustl.edu 37 15 23145916 23145916 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_015696.3 -1 model NULL 1.000 139 0% 77 13% - - - - - - ENSG00000140181 0 genome.wustl.edu 37 15 23299068 23299068 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000454333 -1 known p.F184L 1.000 376 0% 226 22.6% - - - - - NULL ENSG00000223681 0 genome.wustl.edu 37 15 23330012 23330012 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000422607 -1 known p.P11S 1.000 1027 0.2% 539 18% - - benign(0.311) tolerated(0.74) neutral(0.099) NULL LOC653061 653061 genome.wustl.edu 37 15 23600036 23600036 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343324.1 +1 model p.R27I 0.999 184 0% 88 10.2% - - - - - NULL LOC653061 653061 genome.wustl.edu 37 15 23606901 23606901 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343324.1 +1 model p.E385K 0.994 744 0.1% 339 12.7% - - - - - NULL MKRN3 7681 genome.wustl.edu 37 15 23812328 23812328 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005664.3 +1 reviewed p.V467M 0.006 409 0% 197 28.9% - - benign(0.001) tolerated(0.25) neutral(0.037) NULL C15orf2 23742 genome.wustl.edu 37 15 24923588 24923588 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018958.2 +1 reviewed p.G858 0.001 261 0% 131 38.9% - - - - - NULL C15orf2 23742 genome.wustl.edu 37 15 24923874 24923874 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018958.2 +1 reviewed p.A954T 0.000 157 0% 98 29.6% - - benign(0.355) deleterious(0) deleterious(0.557) NULL UBE3A 7337 genome.wustl.edu 37 15 25584345 25584345 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000462.2 -1 reviewed p.E856G 1.000 480 0% 197 32% - - benign(0.151) deleterious(0.01) neutral(0.419) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain UBE3A 7337 genome.wustl.edu 37 15 25615832 25615832 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000462.2 -1 reviewed p.R500C 1.000 194 0.5% 114 24.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UBE3A 7337 genome.wustl.edu 37 15 25620626 25620626 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000462.2 -1 reviewed p.R119I 1.000 130 0% 49 16.3% - - possibly_damaging(0.836) tolerated(0.16) neutral(0.379) NULL ATP10A 57194 genome.wustl.edu 37 15 25966994 25966994 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024490.3 -1 reviewed p.F391L 1.000 276 0% 127 40.9% - - benign(0.035) tolerated(0.53) neutral(0.009) HMMPfam_E1-E2_ATPase HERC2 8924 genome.wustl.edu 37 15 28369299 28369299 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004667.4 -1 reviewed p.E4358K 1.000 270 0% 142 35.2% - - possibly_damaging(0.95) deleterious(0.01) deleterious(0.799) NULL HERC2 8924 genome.wustl.edu 37 15 28465764 28465764 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004667.4 -1 reviewed p.R1893 0.995 278 0% 181 24.9% - - - - - HMMPfam_MIB_HERC2 HERC2 8924 genome.wustl.edu 37 15 28474383 28474383 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004667.4 -1 reviewed p.R1744* 1.000 237 0% 103 36.9% - - - - - NULL APBA2 321 genome.wustl.edu 37 15 29393975 29393975 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005503.3 +1 reviewed p.F504 0.998 70 0% 50 24% - - - - - HMMPfam_PID,HMMSmart_PTB,superfamily_SSF50729 TJP1 7082 genome.wustl.edu 37 15 30010985 30010985 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003257.3 -1 validated p.E1121K 0.995 560 0.2% 234 32.1% - - benign(0.058) deleterious(0.03) neutral(0.368) NULL TJP1 7082 genome.wustl.edu 37 15 30054558 30054558 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003257.3 -1 validated p.E225* 1.000 429 0% 237 32.9% - - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like CHRFAM7A 89832 genome.wustl.edu 37 15 30654988 30654988 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139320.1 -1 reviewed p.C249 1.000 250 0.4% 193 22.3% - - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM ARHGAP11B 89839 genome.wustl.edu 37 15 30925789 30925789 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039841.1 +1 provisional p.K99 1.000 486 0% 262 41.2% - - - - - HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP MTMR10 54893 genome.wustl.edu 37 15 31253154 31253154 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017762.2 -1 validated p.E230* 1.000 382 0% 216 35.2% - - - - - superfamily_(Phosphotyrosine protein) phosphatases II MTMR10 54893 genome.wustl.edu 37 15 31266552 31266552 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017762.2 -1 validated p.R147C 1.000 268 0% 115 41.7% - - benign(0.139) tolerated(0.11) neutral(0.284) superfamily_PH domain-like TRPM1 4308 genome.wustl.edu 37 15 31294387 31294387 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002420.4 -1 reviewed p.D1484N 0.772 210 0% 160 21.2% - - benign(0.269) tolerated(0.35) neutral(0.049) NULL ARHGAP11A 9824 genome.wustl.edu 37 15 32915739 32915739 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014783.3 +1 validated p.E83K 1.000 518 0.2% 350 35.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP ARHGAP11A 9824 genome.wustl.edu 37 15 32925298 32925298 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014783.3 +1 validated p.K408N 1.000 250 0% 130 51.5% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ARHGAP11A 9824 genome.wustl.edu 37 15 32928756 32928756 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014783.3 +1 validated p.E594D 0.988 189 0% 90 44.4% - - possibly_damaging(0.574) deleterious(0.03) deleterious(0.561) NULL RYR3 6263 genome.wustl.edu 37 15 33916084 33916084 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001036.3 +1 validated p.A812S 1.000 265 0% 157 42% - - benign(0) - - NULL RYR3 6263 genome.wustl.edu 37 15 34023764 34023764 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001036.3 +1 validated p.L2431 0.998 233 0% 156 35.9% - - - - - NULL RYR3 6263 genome.wustl.edu 37 15 34130257 34130257 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001036.3 +1 validated p.E4026K 0.996 162 0% 102 41.2% - - benign(0.05) - - NULL RYR3 6263 genome.wustl.edu 37 15 34130507 34130507 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001036.3 +1 validated p.D4109G 1.000 234 0% 135 37% - - benign(0.006) - - NULL RYR3 6263 genome.wustl.edu 37 15 34133073 34133073 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001036.3 +1 validated p.S4342 0.992 414 0% 230 34.8% - - - - - HMMPfam_RR_TM4-6 RYR3 6263 genome.wustl.edu 37 15 34134069 34134069 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001036.3 +1 validated p.E4348* 1.000 580 0.2% 184 41.3% - - - - - HMMPfam_RR_TM4-6 RYR3 6263 genome.wustl.edu 37 15 34140491 34140491 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001036.3 +1 validated e94-1 1.000 106 0% 50 40% - - - - - - RYR3 6263 genome.wustl.edu 37 15 34151796 34151796 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001036.3 +1 validated p.Y4721 0.594 811 0% 469 14.7% - - - - - HMMPfam_Ion_trans C15orf24 56851 genome.wustl.edu 37 15 34388153 34388153 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020154.2 -1 validated p.S100F 1.000 278 0% 151 32.5% - - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMPfam_DUF2012 PGBD4 161779 genome.wustl.edu 37 15 34394854 34394854 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152595.4 +1 validated p.F41C 0.008 105 0% 63 36.5% - - unknown(0) deleterious(0.02) - NULL PGBD4 161779 genome.wustl.edu 37 15 34396030 34396030 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152595.4 +1 validated p.S433L 0.833 146 0% 68 41.2% - - benign(0.057) tolerated(0.22) neutral(0.046) NULL PGBD4 161779 genome.wustl.edu 37 15 34396248 34396248 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152595.4 +1 validated p.R506* 0.005 170 0% 135 33.3% - - - - - NULL C15orf29 79768 genome.wustl.edu 37 15 34445233 34445233 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024713.2 -1 validated p.R66C 0.076 233 0% 119 30.3% - - possibly_damaging(0.772) deleterious(0.02) deleterious(0.670) NULL C15orf29 79768 genome.wustl.edu 37 15 34455846 34455846 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024713.2 -1 validated p.R11Q 0.999 219 0% 104 31.7% - - benign(0.057) tolerated(0.2) neutral(0.053) NULL SLC12A6 9990 genome.wustl.edu 37 15 34542535 34542535 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133647.1 -1 reviewed p.F538C 1.000 294 0% 131 12.2% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_AA_permease SLC12A6 9990 genome.wustl.edu 37 15 34551026 34551026 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133647.1 -1 reviewed p.K177N 0.999 682 0% 359 34.3% - - benign(0.41) tolerated(0.06) neutral(0.455) NULL LPCAT4 254531 genome.wustl.edu 37 15 34651441 34651441 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153613.2 -1 validated p.R488C 1.000 586 0% 329 32.8% - - probably_damaging(0.998) tolerated(0.15) deleterious(0.716) NULL AQR 9716 genome.wustl.edu 37 15 35159749 35159749 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014691.2 -1 validated p.R1277Q 1.000 250 0% 95 36.8% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL AQR 9716 genome.wustl.edu 37 15 35202398 35202398 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014691.2 -1 validated p.R534Q 1.000 268 0% 159 14.5% - - possibly_damaging(0.455) tolerated(0.42) neutral(0.163) NULL AQR 9716 genome.wustl.edu 37 15 35256458 35256458 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014691.2 -1 validated p.K37E 1.000 198 1% 84 40.5% - - benign(0) tolerated(0.84) neutral(0.001) NULL ATPBD4 89978 genome.wustl.edu 37 15 35834651 35834651 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080650.3 -1 validated p.I27 1.000 232 0.4% 130 32.3% - - - - - HMMPfam_ATP_bind_4,superfamily_Adenine nucleotide alpha hydrolases-like RASGRP1 10125 genome.wustl.edu 37 15 38800196 38800196 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005739.3 -1 reviewed p.G325S 1.000 92 0% 61 13.1% - - benign(0) tolerated(0.71) neutral(0.002) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF THBS1 7057 genome.wustl.edu 37 15 39881173 39881173 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003246.2 +1 reviewed p.S553 0.999 418 0% 268 34% - - - - - HMMSmart_SM00179,HMMSmart_SM00181,superfamily_EGF/Laminin THBS1 7057 genome.wustl.edu 37 15 39883721 39883721 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003246.2 +1 reviewed p.R810Q 0.999 410 0% 205 38% - - possibly_damaging(0.555) tolerated(0.35) neutral(0.210) HMMPfam_TSP_3,superfamily_TSP type-3 repeat EIF2AK4 440275 genome.wustl.edu 37 15 40253992 40253992 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013703.2 +1 validated p.R251C 1.000 298 0% 162 34.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL BUB1B 701 genome.wustl.edu 37 15 40505665 40505665 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001211.5 +1 reviewed p.L890I 0.996 438 0% 274 29.2% - - probably_damaging(0.971) deleterious(0.02) deleterious(0.796) superfamily_Protein kinase-like (PK-like) DISP2 85455 genome.wustl.edu 37 15 40661286 40661286 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033510.1 +1 reviewed p.F991L 1.000 68 0% 71 23.9% - - probably_damaging(0.991) tolerated(0.12) deleterious(0.705) superfamily_SSF82866 C15orf23 90417 genome.wustl.edu 37 15 40675068 40675068 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033286.3 +1 validated p.R11I 0.000 90 0% 44 38.6% - - benign(0.011) tolerated(0.08) neutral(0.300) NULL CASC5 57082 genome.wustl.edu 37 15 40901078 40901078 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_170589.3 +1 validated p.R57C 1.000 139 0% 67 44.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CASC5 57082 genome.wustl.edu 37 15 40916438 40916438 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_170589.3 +1 validated p.D1352Y 0.028 180 0% 84 44% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL SPINT1 6692 genome.wustl.edu 37 15 41146000 41146000 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181642.2 +1 reviewed p.F278 0.141 217 0% 114 39.5% - - - - - HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like VPS18 57617 genome.wustl.edu 37 15 41191393 41191393 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020857.2 +1 reviewed p.R126Q 1.000 215 0% 129 42.6% - - probably_damaging(0.968) tolerated(0.15) deleterious(0.651) NULL RHOV 171177 genome.wustl.edu 37 15 41571080 41571080 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007236.4 +1 reviewed p.F176S 1.000 393 0% 184 28.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand NUSAP1 51203 genome.wustl.edu 37 15 41672322 41672322 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016359.3 +1 validated p.R422* 0.911 654 0% 244 33.2% - - - - - NULL NDUFAF1 51103 genome.wustl.edu 37 15 41688739 41688739 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016013.2 -1 validated p.Q173H 0.294 142 0% 98 49% - - benign(0) tolerated(0.06) neutral(0.323) HMMPfam_CIA30 RPAP1 26015 genome.wustl.edu 37 15 41813062 41813062 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015540.2 -1 reviewed p.R1108C 0.028 68 0% 40 40% - - possibly_damaging(0.888) tolerated(0.08) deleterious(0.647) NULL MGA 23269 genome.wustl.edu 37 15 41988692 41988692 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080541.2 +1 validated p.R495Q 0.982 95 0% 60 36.7% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL MGA 23269 genome.wustl.edu 37 15 42019410 42019410 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080541.2 +1 validated p.R1155* 1.000 249 0% 159 33.3% - - - - - NULL MGA 23269 genome.wustl.edu 37 15 42034979 42034979 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080541.2 +1 validated p.E1656D 1.000 191 0% 140 42.9% - - possibly_damaging(0.946) deleterious(0) deleterious(0.835) NULL MGA 23269 genome.wustl.edu 37 15 42052661 42052661 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080541.2 +1 validated p.E2493D 1.000 302 0% 184 37.5% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain JMJD7-PLA2G4B 8681 genome.wustl.edu 37 15 42134747 42134747 + RNA SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_015346.1 +1 validated NULL 0.977 262 0% 124 36.3% - - - - - - SPTBN5 51332 genome.wustl.edu 37 15 42147510 42147510 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016642.2 -1 validated p.R3077Q 0.001 21 0% 20 30% - - possibly_damaging(0.85) tolerated(0.08) deleterious(0.627) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN5 51332 genome.wustl.edu 37 15 42147758 42147758 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016642.2 -1 validated p.K3034N 0.503 61 0% 34 38.2% - - benign(0.013) tolerated(0.93) neutral(0.001) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN5 51332 genome.wustl.edu 37 15 42178008 42178008 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016642.2 -1 validated p.R447H 1.000 53 0% 38 34.2% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat PLA2G4D 283748 genome.wustl.edu 37 15 42363056 42363056 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178034.3 -1 validated p.S634 0.756 226 0% 122 36.9% - - - - - HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like GANC 2595 genome.wustl.edu 37 15 42598789 42598789 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198141.2 +1 reviewed p.F202L 0.999 400 0% 160 31.9% - - probably_damaging(0.957) tolerated(0.29) neutral(0.430) NULL ZFP106 64397 genome.wustl.edu 37 15 42743538 42743538 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022473.1 -1 provisional p.L288P 0.000 468 0% 281 35.2% - - benign(0.052) tolerated(0.15) neutral(0.244) NULL LRRC57 255252 genome.wustl.edu 37 15 42837298 42837298 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153260.2 -1 validated p.R219* 1.000 260 0% 127 37.8% - - - - - NULL STARD9 57519 genome.wustl.edu 37 15 42961385 42961385 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001129482.3 +1 model p.Q421H 1.000 142 0% 93 45.2% - - possibly_damaging(0.705) - - NULL STARD9 57519 genome.wustl.edu 37 15 42967937 42967937 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001129482.3 +1 model p.R540Q 1.000 113 0% 108 38% - - possibly_damaging(0.935) - - NULL STARD9 57519 genome.wustl.edu 37 15 42976854 42976854 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001129482.3 +1 model p.K978N 0.001 185 0% 105 32.4% - - possibly_damaging(0.564) - - NULL STARD9 57519 genome.wustl.edu 37 15 42983010 42983010 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001129482.3 +1 model p.S2992 0.000 131 0% 73 34.2% - - - - - NULL STARD9 57519 genome.wustl.edu 37 15 42987420 42987420 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001129482.3 +1 model p.E4263K 1.000 204 0% 133 42.9% - - possibly_damaging(0.667) - - NULL TTBK2 146057 genome.wustl.edu 37 15 43044672 43044672 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173500.3 -1 reviewed p.E924 0.978 124 0% 87 41.4% - - - - - NULL UBR1 197131 genome.wustl.edu 37 15 43351915 43351915 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_174916.2 -1 reviewed p.I324V 1.000 197 0% 72 38.9% - - benign(0.001) tolerated(0.85) neutral(0.001) NULL TMEM62 80021 genome.wustl.edu 37 15 43461855 43461855 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024956.3 +1 provisional p.R454Q 0.024 496 0.2% 308 34.7% - - benign(0.005) tolerated(0.3) neutral(0.029) NULL CCNDBP1 23582 genome.wustl.edu 37 15 43483788 43483788 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012142.3 +1 reviewed p.R259W 0.978 203 0.5% 129 34.1% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL TGM7 116179 genome.wustl.edu 37 15 43568727 43568727 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052955.2 -1 validated p.L687I 1.000 315 0% 179 10.6% - - possibly_damaging(0.895) deleterious(0.01) deleterious(0.758) HMMPfam_Transglut_C,superfamily_Transglut_C LCMT2 9836 genome.wustl.edu 37 15 43621586 43621586 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014793.3 -1 reviewed p.D368N 0.000 122 0% 77 44.2% - - benign(0.004) tolerated(0.55) neutral(0.007) NULL LCMT2 9836 genome.wustl.edu 37 15 43621841 43621841 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014793.3 -1 reviewed p.E283* 1.000 66 0% 25 36% - - - - - HMMPfam_LCM,superfamily_SSF53335 ZSCAN29 146050 genome.wustl.edu 37 15 43661991 43661991 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152455.3 -1 validated p.E41K 1.000 150 0% 105 29.5% - - unknown(0) tolerated(0.21) - HMMPfam_SCAN,HMMSmart_SM00431 TUBGCP4 27229 genome.wustl.edu 37 15 43668301 43668301 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014444.2 +1 provisional p.S28 0.926 172 0% 134 40.3% - - - - - HMMPfam_Spc97_Spc98 TUBGCP4 27229 genome.wustl.edu 37 15 43672297 43672297 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014444.2 +1 provisional p.I153L 1.000 275 0% 137 35% - - benign(0.01) tolerated(1) neutral(0.001) HMMPfam_Spc97_Spc98 TUBGCP4 27229 genome.wustl.edu 37 15 43687329 43687329 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014444.2 +1 provisional p.E347* 1.000 830 0% 490 35.5% - - - - - HMMPfam_Spc97_Spc98 MAP1A 4130 genome.wustl.edu 37 15 43816024 43816024 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002373.5 +1 reviewed p.E785K 1.000 36 0% 40 32.5% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL MAP1A 4130 genome.wustl.edu 37 15 43818138 43818138 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002373.5 +1 reviewed p.E1489D 0.001 283 0% 94 47.9% - - benign(0) tolerated(1) - NULL MAP1A 4130 genome.wustl.edu 37 15 43820259 43820259 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002373.5 +1 reviewed p.F2196 1.000 51 0% 38 39.5% - - - - - NULL STRC 161497 genome.wustl.edu 37 15 43895447 43895447 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153700.2 -1 reviewed p.A1513E 1.000 230 0% 150 34.7% - - probably_damaging(0.979) deleterious(0.02) deleterious(0.805) NULL STRC 161497 genome.wustl.edu 37 15 43902548 43902548 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153700.2 -1 reviewed p.R1154* 0.994 818 0% 415 23.4% - - - - - NULL STRC 161497 genome.wustl.edu 37 15 44002886 44002886 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000381686 -1 known p.V1076 0.346 85 0% 64 17.2% - - - - - NULL WDR76 79968 genome.wustl.edu 37 15 44149150 44149150 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024908.3 +1 validated p.R400 0.998 214 0% 89 36% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like FRMD5 84978 genome.wustl.edu 37 15 44202115 44202115 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032892.3 -1 validated p.S131L 1.000 160 0% 69 40.6% - - probably_damaging(0.998) tolerated(0.1) deleterious(0.761) HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 SPG11 80208 genome.wustl.edu 37 15 44855385 44855385 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025137.3 -1 reviewed p.E2422D 0.926 304 0% 168 13.1% - - possibly_damaging(0.63) tolerated(1) neutral(0.220) NULL SPG11 80208 genome.wustl.edu 37 15 44865724 44865724 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000427534 -1 known p.S2076A 0.000 86 0% 50 48% - - - - - NULL SPG11 80208 genome.wustl.edu 37 15 44865794 44865794 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025137.3 -1 reviewed p.L2052 0.869 135 0% 96 29.2% - - - - - NULL SPG11 80208 genome.wustl.edu 37 15 44903068 44903068 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025137.3 -1 reviewed p.T1087 0.940 267 0% 140 27.1% - - - - - NULL PATL2 197135 genome.wustl.edu 37 15 44960623 44960623 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145112.1 -1 validated p.E428K 0.967 371 0% 189 28.6% - - benign(0.007) tolerated(0.73) neutral(0.002) HMMPfam_PAT1 PATL2 197135 genome.wustl.edu 37 15 44962208 44962208 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145112.1 -1 validated p.K245 1.000 308 0% 178 47.8% - - - - - NULL PATL2 197135 genome.wustl.edu 37 15 44966425 44966425 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145112.1 -1 validated p.A76T 0.762 109 0% 56 48.2% - - benign(0.01) deleterious(0.04) neutral(0.349) NULL DUOX2 50506 genome.wustl.edu 37 15 45398344 45398344 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014080.4 -1 reviewed p.K709N 1.000 119 0% 79 27.8% - - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) NULL DUOX2 50506 genome.wustl.edu 37 15 45404059 45404059 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014080.4 -1 reviewed p.F140 1.000 49 0% 34 32.4% - - - - - HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases DUOX1 53905 genome.wustl.edu 37 15 45426080 45426080 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017434.3 +1 reviewed p.S26L 0.930 183 0% 102 33.3% - - benign(0.002) deleterious(0.01) neutral(0.406) superfamily_Heme-dependent peroxidases DUOX1 53905 genome.wustl.edu 37 15 45431334 45431334 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017434.3 +1 reviewed p.R395Q 0.998 445 0% 253 30.4% - - benign(0.262) tolerated(0.25) neutral(0.065) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases LOC100289438 100289438 genome.wustl.edu 37 15 45440142 45440142 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343344.1 -1 model p.V227I 0.413 422 0% 254 35.8% - - - - - NULL LOC100289438 100289438 genome.wustl.edu 37 15 45440384 45440384 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343344.1 -1 model p.S186Y 0.000 130 0% 116 40.5% - - - - - NULL SLC28A2 9153 genome.wustl.edu 37 15 45555328 45555328 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004212.3 +1 validated p.T111I 0.999 435 0% 226 44.2% - - probably_damaging(0.998) tolerated(0.14) deleterious(0.724) NULL SLC28A2 9153 genome.wustl.edu 37 15 45556875 45556875 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004212.3 +1 validated p.S204L 1.000 557 0% 285 11.6% - - benign(0) tolerated(0.19) neutral(0.050) HMMPfam_Nucleos_tra2_N SLC28A2 9153 genome.wustl.edu 37 15 45561666 45561666 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004212.3 +1 validated p.S500Y 0.998 451 0% 275 36.4% - - possibly_damaging(0.948) deleterious(0.01) deleterious(0.796) HMMPfam_Nucleos_tra2_C HMGN2P46 283651 genome.wustl.edu 37 15 45847679 45847679 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000313559 +1 known p.D10A 0.015 92 0% 51 31.4% - - - - - NULL SEMA6D 80031 genome.wustl.edu 37 15 48062819 48062819 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153618.1 +1 reviewed p.R687* 0.998 190 0% 119 36.1% - - - - - NULL SLC12A1 6557 genome.wustl.edu 37 15 48519333 48519333 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000396577 +1 known p.S229Y 1.000 441 0% 223 34.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AA_permease SLC12A1 6557 genome.wustl.edu 37 15 48533778 48533778 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000338.2 +1 reviewed p.G428R 0.949 478 0% 244 35.7% - - possibly_damaging(0.807) tolerated(0.09) deleterious(0.601) HMMPfam_AA_permease FBN1 2200 genome.wustl.edu 37 15 48762954 48762954 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000138.4 -1 reviewed e35-1 1.000 164 0% 95 40% - - - - - - GALK2 2585 genome.wustl.edu 37 15 49509446 49509446 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002044.2 +1 reviewed p.L68I 0.996 234 0% 153 39.9% - - benign(0.194) tolerated(0.27) neutral(0.052) HMMPfam_GalKase_gal_bdg,superfamily_Ribosomal_S5_D2-typ_fold C15orf33 196951 genome.wustl.edu 37 15 49833921 49833921 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152647.2 -1 validated p.E277A 1.000 107 0% 30 46.7% - - probably_damaging(0.975) tolerated(0.28) neutral(0.449) NULL DTWD1 56986 genome.wustl.edu 37 15 49935705 49935705 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144955.1 +1 validated p.S282Y 1.000 75 0% 41 31.7% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_DTW ATP8B4 79895 genome.wustl.edu 37 15 50212512 50212512 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024837.2 -1 validated p.A618 0.978 293 0% 196 33.7% - - - - - superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 ATP8B4 79895 genome.wustl.edu 37 15 50223394 50223394 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024837.2 -1 validated p.E522* 1.000 464 0% 189 30.2% - - - - - superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 ATP8B4 79895 genome.wustl.edu 37 15 50279641 50279641 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024837.2 -1 validated p.R232I 1.000 288 0% 142 32.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF81665 USP8 9101 genome.wustl.edu 37 15 50773906 50773906 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128610.1 +1 validated p.R483W 1.000 421 0% 153 39.2% - - benign(0) tolerated(0.14) neutral(0.249) NULL USP8 9101 genome.wustl.edu 37 15 50782026 50782026 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128610.1 +1 validated p.R640Q 0.982 87 0% 29 44.8% - - possibly_damaging(0.809) deleterious(0.03) deleterious(0.669) NULL USP8 9101 genome.wustl.edu 37 15 50788072 50788072 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128610.1 +1 validated p.E896* 1.000 54 0% 29 13.8% - - - - - HMMPfam_UCH,superfamily_SSF54001 USP50 373509 genome.wustl.edu 37 15 50833255 50833255 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_203494.4 -1 validated p.C222 0.854 226 0% 151 33.1% - - - - - HMMPfam_UCH,superfamily_SSF54001 TRPM7 54822 genome.wustl.edu 37 15 50867138 50867138 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017672.4 -1 reviewed p.L1644I 1.000 367 0% 209 12.9% - - possibly_damaging(0.506) deleterious(0.03) deleterious(0.534) HMMPfam_Alpha_kinase,HMMSmart_Alpha_kinase,superfamily_Kinase_like TRPM7 54822 genome.wustl.edu 37 15 50902041 50902041 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017672.4 -1 reviewed p.E800K 1.000 583 0% 250 23.6% - - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) NULL SPPL2A 84888 genome.wustl.edu 37 15 51014369 51014369 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032802.3 -1 reviewed p.D427Y 1.000 305 0% 132 31.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00730,HMMPfam_Peptidase_A22B TNFAIP8L3 388121 genome.wustl.edu 37 15 51350081 51350081 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207381.2 -1 provisional p.L292 0.734 71 0% 45 42.2% - - - - - HMMPfam_DUF758 CYP19A1 1588 genome.wustl.edu 37 15 51507430 51507430 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000103.3 -1 reviewed e7-1 1.000 244 0% 100 34% - - - - - - DMXL2 23312 genome.wustl.edu 37 15 51790759 51790759 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015263.3 -1 validated p.K1554N 1.000 151 0% 107 37.4% - - benign(0.001) tolerated(0.37) neutral(0.019) NULL DMXL2 23312 genome.wustl.edu 37 15 51792406 51792406 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015263.3 -1 validated p.I1005M 1.000 168 0% 97 40.2% - - benign(0.113) deleterious(0) neutral(0.454) HMMSmart_SM00320 DMXL2 23312 genome.wustl.edu 37 15 51828531 51828531 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015263.3 -1 validated p.H716N 1.000 524 0.4% 257 27.2% - - probably_damaging(0.998) tolerated(0.31) deleterious(0.501) NULL DMXL2 23312 genome.wustl.edu 37 15 51830521 51830521 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015263.3 -1 validated p.R412* 0.997 428 0% 218 38.1% - - - - - superfamily_WD40 repeat-like DMXL2 23312 genome.wustl.edu 37 15 51834686 51834686 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015263.3 -1 validated p.N317Y 1.000 237 0% 128 29.7% - - probably_damaging(0.996) tolerated(0.63) neutral(0.465) superfamily_WD40 repeat-like LEO1 123169 genome.wustl.edu 37 15 52258037 52258037 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138792.2 -1 provisional p.E241D 1.000 350 0% 251 32.7% - - benign(0.368) tolerated(0.38) neutral(0.135) NULL MAPK6 5597 genome.wustl.edu 37 15 52356578 52356578 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002748.3 +1 reviewed p.G516V 1.000 220 0% 88 29.5% - - benign(0) tolerated(0.07) neutral(0.319) NULL MAPK6 5597 genome.wustl.edu 37 15 52357054 52357054 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002748.3 +1 reviewed p.E675K 0.998 92 0% 51 37.3% - - benign(0.141) deleterious(0) neutral(0.457) NULL MYO5A 4644 genome.wustl.edu 37 15 52622561 52622561 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000259.3 -1 reviewed p.N1490S 1.000 353 0% 207 29.5% - - benign(0.187) tolerated(0.09) neutral(0.314) NULL MYO5A 4644 genome.wustl.edu 37 15 52668737 52668737 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000259.3 -1 reviewed p.F743L 1.000 205 0% 114 35.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO5A 4644 genome.wustl.edu 37 15 52688579 52688579 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000259.3 -1 reviewed p.E445D 0.987 207 0% 116 47.4% - - benign(0.003) tolerated(0.17) neutral(0.059) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO5A 4644 genome.wustl.edu 37 15 52689484 52689484 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000259.3 -1 reviewed p.L411 1.000 204 0% 131 45.8% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO5A 4644 genome.wustl.edu 37 15 52702567 52702567 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000259.3 -1 reviewed p.R240I 1.000 183 0% 89 39.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM214A 56204 genome.wustl.edu 37 15 52876966 52876966 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019600.2 -1 validated p.L1018S 1.000 532 0% 337 32.6% - - possibly_damaging(0.559) tolerated(0.12) neutral(0.451) NULL FAM214A 56204 genome.wustl.edu 37 15 52901775 52901775 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019600.2 -1 validated p.R446* 0.001 328 0% 157 31.8% - - - - - NULL ONECUT1 3175 genome.wustl.edu 37 15 53081784 53081784 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004498.1 -1 provisional p.P100S 1.000 326 0% 151 41.1% - - benign(0) tolerated(1) - NULL WDR72 256764 genome.wustl.edu 37 15 54005024 54005024 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182758.2 -1 validated p.R219Q 1.000 328 0.3% 138 29% - - probably_damaging(1) tolerated(0.22) deleterious(0.542) superfamily_WD40 repeat-like WDR72 256764 genome.wustl.edu 37 15 54005064 54005064 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182758.2 -1 validated p.E206* 1.000 289 0% 113 34.5% - - - - - superfamily_WD40 repeat-like UNC13C 440279 genome.wustl.edu 37 15 54305142 54305142 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080534.1 +1 provisional p.I14 0.644 175 0% 78 34.6% - - - - - NULL UNC13C 440279 genome.wustl.edu 37 15 54306066 54306066 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080534.1 +1 provisional p.R322S 0.998 233 0% 104 40.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL UNC13C 440279 genome.wustl.edu 37 15 54307445 54307445 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080534.1 +1 provisional p.R782Q 1.000 224 0% 124 37.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL UNC13C 440279 genome.wustl.edu 37 15 54916116 54916116 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080534.1 +1 provisional p.N2108S 1.000 451 0% 179 11.7% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB UNC13C 440279 genome.wustl.edu 37 15 54919106 54919106 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080534.1 +1 provisional p.R2147Q 1.000 314 0% 149 34.9% - - probably_damaging(0.96) tolerated(0.07) deleterious(0.722) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB CCPG1 9236 genome.wustl.edu 37 15 55652650 55652650 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004748.3 -1 validated p.E441K 1.000 534 0.2% 303 38.3% - - probably_damaging(1) tolerated(0.33) deleterious(0.524) NULL CCPG1 9236 genome.wustl.edu 37 15 55652974 55652974 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004748.3 -1 validated p.E333* 1.000 430 0% 235 37.4% - - - - - NULL CCPG1 9236 genome.wustl.edu 37 15 55669172 55669172 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004748.3 -1 validated p.Q143H 0.882 178 0% 97 42.3% - - possibly_damaging(0.892) deleterious(0) deleterious(0.796) NULL DYX1C1 161582 genome.wustl.edu 37 15 55742537 55742537 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_130810.2 -1 reviewed p.E222D 0.098 189 0% 97 29.9% - - benign(0.001) tolerated(0.34) neutral(0.023) NULL DYX1C1 161582 genome.wustl.edu 37 15 55783444 55783444 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_130810.2 -1 reviewed p.E94 1.000 620 0% 343 35% - - - - - superfamily_HSP20-like chaperones PRTG 283659 genome.wustl.edu 37 15 55971563 55971563 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173814.4 -1 validated p.G352* 1.000 353 0% 194 32.5% - - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 PRTG 283659 genome.wustl.edu 37 15 55972381 55972381 + Missense_Mutation SNP G G A rs186873190 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173814.4 -1 validated p.R282W 0.998 189 0% 71 23.9% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 PRTG 283659 genome.wustl.edu 37 15 56032722 56032722 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173814.4 -1 validated p.I85 1.000 308 0% 181 34.3% - - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 NEDD4 4734 genome.wustl.edu 37 15 56132879 56132879 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198400.2 -1 validated p.E976K 1.000 372 0% 183 27.9% - - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT NEDD4 4734 genome.wustl.edu 37 15 56208920 56208920 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198400.2 -1 validated p.R37I 0.629 289 0% 170 30.6% - - unknown(0) deleterious(0) - NULL NEDD4 4734 genome.wustl.edu 37 15 56243600 56243600 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006154.2 -1 validated p.K71E 1.000 113 0% 47 34% - - possibly_damaging(0.939) tolerated(0.16) neutral(0.444) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) TEX9 374618 genome.wustl.edu 37 15 56657819 56657819 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198524.1 +1 provisional p.Q24* 0.002 249 0% 104 21.2% - - - - - NULL TEX9 374618 genome.wustl.edu 37 15 56686948 56686948 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198524.1 +1 provisional p.S248 1.000 127 0% 41 31.7% - - - - - NULL MNS1 55329 genome.wustl.edu 37 15 56721305 56721305 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018365.2 -1 reviewed p.E494D 0.000 349 0% 157 11.5% - - possibly_damaging(0.49) tolerated(0.51) neutral(0.172) NULL ZNF280D 54816 genome.wustl.edu 37 15 56993103 56993103 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001002844.1 -1 validated p.A137T 0.376 243 0.4% 149 41.6% - - - - - NULL CGNL1 84952 genome.wustl.edu 37 15 57744378 57744378 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032866.3 +1 validated p.A649T 0.041 357 0% 103 33% - - benign(0.003) tolerated(0.59) neutral(0.004) NULL GCOM1 145781 genome.wustl.edu 37 15 57913876 57913876 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001018090.1 +1 reviewed p.R130Q 0.461 284 0% 121 39.7% - - benign(0.009) tolerated(0.57) neutral(0.007) NULL ADAM10 102 genome.wustl.edu 37 15 58919936 58919936 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001110.2 -1 reviewed p.S441 1.000 534 0.2% 276 43.8% - - - - - HMMPfam_Reprolysin,superfamily_SSF55486 ADAM10 102 genome.wustl.edu 37 15 59009902 59009902 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001110.2 -1 reviewed p.K27T 1.000 191 0% 125 38.4% - - possibly_damaging(0.616) tolerated(0.07) deleterious(0.533) HMMPfam_Pep_M12B_propep FAM63B 54629 genome.wustl.edu 37 15 59064145 59064145 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040450.1 +1 validated p.S184Y 1.000 83 0% 43 32.6% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL SLTM 79811 genome.wustl.edu 37 15 59185145 59185145 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024755.2 -1 validated p.E617K 1.000 574 0% 302 31.1% - - unknown(0) deleterious(0.03) - NULL RNF111 54778 genome.wustl.edu 37 15 59323499 59323499 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017610.6 +1 reviewed p.E160* 1.000 281 0% 151 39.1% - - - - - NULL RNF111 54778 genome.wustl.edu 37 15 59384797 59384797 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017610.6 +1 reviewed p.C934F 1.000 526 0% 190 27.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box FAM81A 145773 genome.wustl.edu 37 15 59752479 59752479 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000454797 +1 known p.S120Y 0.000 119 0% 63 34.9% - - - - - NULL GCNT3 9245 genome.wustl.edu 37 15 59911741 59911741 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004751.2 +1 reviewed p.G435V 1.000 156 0% 106 37.7% - - possibly_damaging(0.885) tolerated(0.06) deleterious(0.668) NULL FOXB1 27023 genome.wustl.edu 37 15 60297446 60297446 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012182.2 +1 validated p.D95G 1.000 42 0% 37 51.4% - - possibly_damaging(0.515) deleterious(0.03) deleterious(0.538) HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 ANXA2 302 genome.wustl.edu 37 15 60641361 60641361 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001002858.2 -1 reviewed p.I309 1.000 225 0% 112 43.8% - - - - - superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_SM00335 ANXA2 302 genome.wustl.edu 37 15 60653157 60653157 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001002858.2 -1 reviewed p.L132I 1.000 218 0% 104 34.6% - - benign(0.055) tolerated(0.3) neutral(0.032) superfamily_Annexin,HMMPfam_Annexin NARG2 79664 genome.wustl.edu 37 15 60745904 60745904 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024611.4 -1 validated p.I341 0.934 323 0% 133 39.8% - - - - - NULL NARG2 79664 genome.wustl.edu 37 15 60745934 60745934 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024611.4 -1 validated p.K331N 0.993 298 0% 124 22.6% - - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) NULL NARG2 79664 genome.wustl.edu 37 15 60747576 60747576 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024611.4 -1 validated p.D244 0.002 458 0% 234 12.8% - - - - - NULL RORA 6095 genome.wustl.edu 37 15 60793217 60793217 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_134260.2 -1 reviewed p.S445F 1.000 364 0% 165 30.3% - - possibly_damaging(0.886) deleterious(0.04) deleterious(0.696) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain RORA 6095 genome.wustl.edu 37 15 60907124 60907124 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002943.3 -1 reviewed p.F80L 0.010 89 0% 36 33.3% - - benign(0) tolerated(1) - NULL VPS13C 54832 genome.wustl.edu 37 15 62173772 62173772 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020821.1 -1 validated p.L3256V 0.934 207 0% 101 50.5% - - possibly_damaging(0.663) tolerated(0.1) deleterious(0.521) NULL VPS13C 54832 genome.wustl.edu 37 15 62212707 62212707 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020821.1 -1 validated p.N2401T 1.000 215 0% 102 33.3% - - possibly_damaging(0.8) deleterious(0.03) deleterious(0.665) NULL VPS13C 54832 genome.wustl.edu 37 15 62234000 62234000 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020821.1 -1 validated p.D1805 0.998 159 0% 73 24.7% - - - - - NULL VPS13C 54832 genome.wustl.edu 37 15 62256041 62256041 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020821.1 -1 validated p.K1108 1.000 342 0% 156 26.9% - - - - - NULL VPS13C 54832 genome.wustl.edu 37 15 62261555 62261555 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020821.1 -1 validated p.D952Y 0.965 289 0% 127 37.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL USP3 9960 genome.wustl.edu 37 15 63848898 63848898 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006537.2 +1 validated p.R134K 1.000 154 0% 46 32.6% - - benign(0.064) tolerated(0.09) neutral(0.300) NULL HERC1 8925 genome.wustl.edu 37 15 63908094 63908094 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003922.3 -1 reviewed p.G4656V 1.000 214 0% 127 35.4% - - probably_damaging(1) - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HERC1 8925 genome.wustl.edu 37 15 64010840 64010840 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003922.3 -1 reviewed p.R1304Q 1.000 335 0% 191 29.8% - - probably_damaging(0.997) - - NULL HERC1 8925 genome.wustl.edu 37 15 64041896 64041896 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003922.3 -1 reviewed p.R666K 1.000 200 0% 97 20.6% - - benign(0.227) - - superfamily_RCC1/BLIP-II CSNK1G1 53944 genome.wustl.edu 37 15 64508831 64508831 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022048.3 -1 validated p.L125S 1.000 162 0% 81 43.2% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TRIP4 9325 genome.wustl.edu 37 15 64737306 64737306 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016213.3 +1 validated p.I559 1.000 163 0% 59 13.6% - - - - - NULL ANKDD1A 348094 genome.wustl.edu 37 15 65239790 65239790 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182703.3 +1 validated p.D443G 0.000 51 0% 55 38.2% - - benign(0.069) tolerated(0.26) neutral(0.038) HMMPfam_Death,superfamily_DEATH_like CLPX 10845 genome.wustl.edu 37 15 65456392 65456392 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006660.3 -1 provisional p.E216D 1.000 336 0% 149 22.8% - - probably_damaging(0.971) tolerated(0.15) deleterious(0.654) superfamily_P-loop containing nucleoside triphosphate hydrolases IGDCC3 9543 genome.wustl.edu 37 15 65621806 65621806 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004884.3 -1 validated p.E709 0.984 36 0% 21 52.4% - - - - - NULL DPP8 54878 genome.wustl.edu 37 15 65793089 65793089 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_197960.2 -1 reviewed p.R150Q 1.000 471 0% 286 38.5% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain PTPLAD1 51495 genome.wustl.edu 37 15 65862533 65862533 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016395.2 +1 validated p.E255D 1.000 951 0% 462 36.4% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PTPLA DENND4A 10260 genome.wustl.edu 37 15 66044943 66044943 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144823.1 -1 validated p.R112I 1.000 127 0% 59 30.5% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL DIS3L 115752 genome.wustl.edu 37 15 66607521 66607521 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133375.3 +1 validated p.S238L 0.000 135 0% 74 40.5% - - benign(0) tolerated(0.35) neutral(0.021) NULL DIS3L 115752 genome.wustl.edu 37 15 66621407 66621407 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133375.3 +1 validated p.S684 0.026 138 0% 116 38.8% - - - - - HMMPfam_RNB DIS3L 115752 genome.wustl.edu 37 15 66625175 66625175 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133375.3 +1 validated p.R845Q 0.563 168 0% 94 34% - - probably_damaging(0.997) tolerated(0.31) deleterious(0.493) NULL TIPIN 54962 genome.wustl.edu 37 15 66633692 66633692 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017858.2 -1 validated p.E160* 0.679 187 0% 139 28.1% - - - - - NULL MAP2K1 5604 genome.wustl.edu 37 15 66779598 66779598 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002755.3 +1 reviewed p.I310L 1.000 360 0% 165 37.6% - - possibly_damaging(0.858) deleterious(0) deleterious(0.776) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ZWILCH 55055 genome.wustl.edu 37 15 66816079 66816079 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017975.3 +1 validated p.F271C 1.000 201 0% 98 31.6% - - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_DUF2352 ZWILCH 55055 genome.wustl.edu 37 15 66838975 66838975 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017975.3 +1 validated p.F578L 0.106 272 0% 147 24.5% - - benign(0.005) tolerated(0.4) neutral(0.016) HMMPfam_DUF2352 FEM1B 10116 genome.wustl.edu 37 15 68582151 68582151 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015322.3 +1 provisional p.K152R 1.000 157 0% 96 39.6% - - possibly_damaging(0.913) tolerated(0.88) neutral(0.364) HMMPfam_Ank,superfamily_ANK FEM1B 10116 genome.wustl.edu 37 15 68583403 68583403 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015322.3 +1 provisional p.T569 0.919 339 0% 178 30.9% - - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ITGA11 22801 genome.wustl.edu 37 15 68631911 68631911 + Silent SNP C C A rs144305058 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004439.1 -1 reviewed p.G401 0.642 116 0% 63 14.3% - - - - - superfamily_Integrin alpha N-terminal domain KIF23 9493 genome.wustl.edu 37 15 69714463 69714463 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138555.1 +1 reviewed p.R150L 1.000 234 0% 138 31.9% - - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF23 9493 genome.wustl.edu 37 15 69718709 69718709 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138555.1 +1 reviewed p.L294F 1.000 229 0% 149 34.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases TLE3 7090 genome.wustl.edu 37 15 70368486 70368486 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005078.2 -1 validated p.A82 0.971 216 0% 107 33.6% - - - - - HMMPfam_TLE_N THAP10 56906 genome.wustl.edu 37 15 71184269 71184269 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020147.2 -1 provisional p.L115F 0.000 61 0% 43 37.2% - - benign(0.005) tolerated(0.25) neutral(0.037) NULL LRRC49 54839 genome.wustl.edu 37 15 71341784 71341784 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017691.2 +1 validated p.I632V 0.055 98 0% 49 32.7% - - benign(0) tolerated(1) - NULL MYO9A 4649 genome.wustl.edu 37 15 72172100 72172100 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006901.2 -1 validated p.R1901W 1.000 395 0% 215 33% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYO9A 4649 genome.wustl.edu 37 15 72190136 72190136 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006901.2 -1 validated p.E1570* 0.996 201 0% 134 38.1% - - - - - NULL MYO9A 4649 genome.wustl.edu 37 15 72191017 72191017 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006901.2 -1 validated p.R1276I 1.000 427 0% 247 32% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PARP6 56965 genome.wustl.edu 37 15 72534313 72534313 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020214.2 -1 provisional p.K573N 1.000 144 0% 67 38.8% - - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) superfamily_ADP-ribosylation TMEM202 338949 genome.wustl.edu 37 15 72699537 72699537 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080462.1 +1 provisional p.D200N 0.001 369 0% 184 38% - - possibly_damaging(0.933) deleterious(0.02) deleterious(0.762) NULL ARIH1 25820 genome.wustl.edu 37 15 72853840 72853840 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005744.3 +1 validated p.S252A 1.000 232 0% 82 35.4% - - benign(0.099) tolerated(0.5) neutral(0.018) superfamily_RING/U-box MIR630 693215 genome.wustl.edu 37 15 72879644 72879644 + RNA SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000384957 +1 known NULL 0.001 337 0% 167 31.7% - - - - - - NEO1 4756 genome.wustl.edu 37 15 73590697 73590697 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002499.3 +1 validated p.R1304* 1.000 196 0% 116 37.1% - - - - - HMMPfam_Neogenin_C HCN4 10021 genome.wustl.edu 37 15 73615999 73615999 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005477.2 -1 reviewed p.S812Y 0.022 75 0% 38 34.2% - - benign(0.003) deleterious(0.01) neutral(0.406) NULL HCN4 10021 genome.wustl.edu 37 15 73616469 73616469 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005477.2 -1 reviewed p.A702T 1.000 61 0% 35 40% - - benign(0.012) tolerated(0.12) neutral(0.261) HMMSmart_cNMP,superfamily_cNMP_binding HCN4 10021 genome.wustl.edu 37 15 73624577 73624577 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005477.2 -1 reviewed p.I422 0.994 133 0% 105 10.5% - - - - - HMMPfam_Ion_trans,superfamily_SSF81324 ISLR2 57611 genome.wustl.edu 37 15 74425505 74425505 + Missense_Mutation SNP C C A rs3889598 byCluster;byFrequency;by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130136.1 +1 validated p.S137Y 0.881 40 0% 25 36% - - benign(0.071) tolerated(0.08) neutral(0.305) HMMPfam_LRR_1,superfamily_SSF52058 ISLR 3671 genome.wustl.edu 37 15 74467595 74467595 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005545.3 +1 validated p.N132 0.921 143 0% 89 37.1% - - - - - HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 CCDC33 80125 genome.wustl.edu 37 15 74623007 74623007 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025055.3 +1 validated p.S487F 0.017 212 0% 78 23.1% - - benign(0.006) deleterious(0.01) neutral(0.406) NULL SEMA7A 8482 genome.wustl.edu 37 15 74704330 74704330 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003612.3 -1 reviewed p.V440L 1.000 33 0% 20 40% - - benign(0) tolerated(0.21) neutral(0.044) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema EDC3 80153 genome.wustl.edu 37 15 74948297 74948297 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142443.1 -1 validated p.I199 0.999 411 0% 291 31.3% - - - - - HMMPfam_DFDF CYP1A1 1543 genome.wustl.edu 37 15 75015209 75015209 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000499.3 -1 reviewed p.R77Q 0.985 106 0% 65 32.3% - - benign(0.173) tolerated(0.62) neutral(0.020) HMMPfam_p450,superfamily_Cytochrome P450 ENSG00000187812 0 genome.wustl.edu 37 15 76073206 76073206 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000395215 +1 known p.E152K 0.999 258 0% 156 32.1% - - probably_damaging(0.994) tolerated(0.09) deleterious(0.748) NULL ENSG00000167141 0 genome.wustl.edu 37 15 76079014 76079014 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000338857 +1 known p.E211* 0.017 110 0% 80 27.5% - - - - - NULL LOC730058 730058 genome.wustl.edu 37 15 76084998 76084998 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001719538.1 -1 model p.S37 0.977 53 0% 49 44.9% - - - - - NULL FBXO22 26263 genome.wustl.edu 37 15 76209598 76209598 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_147188.1 +1 reviewed p.R164Q 1.000 203 0% 88 34.1% - - benign(0.014) tolerated(0.51) neutral(0.009) NULL ISL2 64843 genome.wustl.edu 37 15 76630607 76630607 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145805.1 +1 provisional p.K88T 1.000 12 0.000 8 0.750 - - possibly_damaging(0.914) deleterious(0) deleterious(0.810) HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) LINGO1 84894 genome.wustl.edu 37 15 77907078 77907078 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032808.5 -1 validated p.R391W 0.995 63 0% 57 12.3% - - possibly_damaging(0.927) deleterious(0.01) deleterious(0.780) NULL SH2D7 646892 genome.wustl.edu 37 15 78385075 78385075 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001101404.1 +1 provisional p.P50H 0.997 134 0% 105 39% - - possibly_damaging(0.852) deleterious(0.01) deleterious(0.733) HMMSmart_SH2,superfamily_SSF55550 IREB2 3658 genome.wustl.edu 37 15 78789502 78789502 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004136.2 +1 validated p.K877T 1.000 444 0% 181 51.4% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_Aconitase_C,superfamily_Aconitase AGPHD1 123688 genome.wustl.edu 37 15 78825714 78825714 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013619.2 +1 validated p.I275S 1.000 304 0% 181 42.5% - - benign(0.044) tolerated(0.19) neutral(0.052) HMMPfam_APH,superfamily_Protein kinase-like (PK-like) CHRNA5 1138 genome.wustl.edu 37 15 78880708 78880708 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000745.2 +1 provisional p.K119R 1.000 350 0% 139 39.6% - - benign(0) tolerated(0.37) neutral(0.019) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD CHRNA5 1138 genome.wustl.edu 37 15 78880761 78880761 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000745.2 +1 provisional p.D137N 1.000 213 0% 87 12.6% - - possibly_damaging(0.568) tolerated(1) neutral(0.195) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD CHRNA5 1138 genome.wustl.edu 37 15 78882598 78882598 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000745.2 +1 provisional p.L289F 0.998 316 0% 207 32.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM CTSH 1512 genome.wustl.edu 37 15 79224774 79224774 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004390.3 -1 reviewed p.F144L 1.000 106 0% 72 23.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_THIOL_PROTEASE_CYS,HMMPfam_Peptidase_C1,HMMSmart_SM00645,superfamily_Cysteine proteinases RASGRF1 5923 genome.wustl.edu 37 15 79310205 79310205 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002891.4 -1 reviewed p.I550 0.430 315 0% 192 14.6% - - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like KIAA1024 23251 genome.wustl.edu 37 15 79748657 79748657 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015206.2 +1 validated p.L56 0.389 199 0.5% 121 13.2% - - - - - NULL KIAA1024 23251 genome.wustl.edu 37 15 79749930 79749930 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015206.2 +1 validated p.V481M 0.001 119 0% 82 32.9% - - benign(0.28) tolerated(0.08) neutral(0.386) NULL FAM108C1 58489 genome.wustl.edu 37 15 81041981 81041981 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021214.1 +1 validated p.R240C 1.000 383 0% 242 40.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_alpha/beta-Hydrolases KIAA1199 57214 genome.wustl.edu 37 15 81173252 81173252 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018689.1 +1 validated p.G131D 0.000 233 0% 126 11.1% - - benign(0) tolerated(0.41) neutral(0.015) HMMPfam_G8 KIAA1199 57214 genome.wustl.edu 37 15 81199155 81199155 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018689.1 +1 validated p.F521 0.938 314 0% 198 39.4% - - - - - NULL KIAA1199 57214 genome.wustl.edu 37 15 81213399 81213399 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018689.1 +1 validated p.N677S 1.000 294 0% 172 33.7% - - possibly_damaging(0.838) deleterious(0.05) deleterious(0.665) NULL AP3B2 8120 genome.wustl.edu 37 15 83333196 83333196 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004644.3 -1 validated p.S709 0.534 330 0.3% 190 37.4% - - - - - NULL AP3B2 8120 genome.wustl.edu 37 15 83334225 83334225 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004644.3 -1 validated p.S652Y 1.000 179 0% 113 38.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL AP3B2 8120 genome.wustl.edu 37 15 83345366 83345366 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004644.3 -1 validated p.I504 1.000 164 0% 104 32.7% - - - - - HMMPfam_Adaptin_N,superfamily_ARM-type_fold FSD2 123722 genome.wustl.edu 37 15 83455641 83455641 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001007122.2 -1 provisional p.E168* 1.000 249 0% 146 37% - - - - - NULL SH3GL3 6457 genome.wustl.edu 37 15 84237405 84237405 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003027.3 +1 validated p.L104 0.005 171 0% 80 41.2% - - - - - HMMPfam_BAR,HMMSmart_SM00721 SH3GL3 6457 genome.wustl.edu 37 15 84241351 84241351 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003027.3 +1 validated p.K122 0.985 301 0% 110 30.9% - - - - - HMMPfam_BAR,HMMSmart_SM00721 ADAMTSL3 57188 genome.wustl.edu 37 15 84685191 84685191 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207517.2 +1 validated p.L1405I 0.004 322 0% 145 35.2% - - benign(0.02) tolerated(0.13) neutral(0.254) NULL ALPK3 57538 genome.wustl.edu 37 15 85383894 85383894 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020778.4 +1 validated p.A664T 0.000 40 0% 29 48.3% - - benign(0.001) deleterious(0.03) neutral(0.364) NULL ALPK3 57538 genome.wustl.edu 37 15 85402505 85402505 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020778.4 +1 validated p.E1485 1.000 120 0% 126 31.7% - - - - - HMMSmart_SM00409,superfamily_Immunoglobulin AKAP13 11214 genome.wustl.edu 37 15 86270685 86270685 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006738.4 +1 reviewed p.E2364* 1.000 336 0% 138 38.4% - - - - - NULL AGBL1 123624 genome.wustl.edu 37 15 86686960 86686960 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152336.2 +1 validated p.S3I 1.000 216 0% 145 37.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat AGBL1 123624 genome.wustl.edu 37 15 86838485 86838485 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152336.2 +1 validated e15-1 1.000 126 0% 62 33.9% - - - - - - AGBL1 123624 genome.wustl.edu 37 15 87099490 87099490 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152336.2 +1 validated p.R965G 0.008 281 0% 157 29.9% - - possibly_damaging(0.878) tolerated(0.17) neutral(0.401) HMMPfam_Peptidase_M14 NTRK3 4916 genome.wustl.edu 37 15 88799191 88799191 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012338.1 -1 reviewed p.S65N 1.000 523 0.2% 319 29.8% - - benign(0.004) tolerated(0.06) neutral(0.323) NULL ACAN 176 genome.wustl.edu 37 15 89401708 89401708 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013227.3 +1 reviewed p.L1849 1.000 57 0% 51 15.7% - - - - - NULL MFGE8 4240 genome.wustl.edu 37 15 89449889 89449889 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005928.2 -1 validated p.D170N 0.620 113 0% 69 31.9% - - benign(0.039) tolerated(0.38) neutral(0.020) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like POLG 5428 genome.wustl.edu 37 15 89876788 89876788 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001126131.1 -1 reviewed p.G66 0.826 23 0% 21 38.1% - - - - - NULL RHCG 51458 genome.wustl.edu 37 15 90020378 90020378 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016321.1 -1 provisional p.G391E 0.995 172 0% 109 30.3% - - possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909) C15orf42 90381 genome.wustl.edu 37 15 90152048 90152048 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152259.3 +1 validated p.R913* 0.998 208 0% 103 38.8% - - - - - NULL PEX11A 8800 genome.wustl.edu 37 15 90226823 90226823 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003847.1 -1 provisional p.L177F 1.000 321 0% 176 33.5% - - possibly_damaging(0.594) tolerated(0.32) neutral(0.229) HMMPfam_PEX11 WDR93 56964 genome.wustl.edu 37 15 90245189 90245189 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020212.1 +1 provisional p.S71Y 0.014 150 0% 86 10.5% - - possibly_damaging(0.509) deleterious(0.05) deleterious(0.516) NULL WDR93 56964 genome.wustl.edu 37 15 90272980 90272980 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020212.1 +1 provisional p.R397Q 0.605 267 0% 146 21.2% - - possibly_damaging(0.938) deleterious(0.03) deleterious(0.748) superfamily_C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase ZNF710 374655 genome.wustl.edu 37 15 90611131 90611131 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198526.2 +1 validated p.F254 0.001 25 0% 29 48.3% - - - - - NULL IDH2 3418 genome.wustl.edu 37 15 90630804 90630804 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002168.2 -1 reviewed p.I228L 1.000 169 0% 138 44.9% - - possibly_damaging(0.792) deleterious(0) deleterious(0.742) HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like SEMA4B 10509 genome.wustl.edu 37 15 90771512 90771512 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020210.3 +1 validated p.E717 1.000 193 0% 146 34.2% - - - - - NULL C15orf58 390637 genome.wustl.edu 37 15 90784745 90784745 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013657.2 +1 validated p.R202H 1.000 54 0% 52 19.2% - - probably_damaging(0.999) tolerated(0.1) deleterious(0.777) PatternScan_PHOSPHOPANTETHEINE NGRN 51335 genome.wustl.edu 37 15 90814700 90814700 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001033088.1 +1 validated p.N186Y 0.000 122 0% 56 25% - - benign(0.163) tolerated(0.06) neutral(0.337) HMMPfam_Neugrin IQGAP1 8826 genome.wustl.edu 37 15 91017875 91017875 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003870.3 +1 reviewed p.L912F 1.000 216 0% 125 37.6% - - probably_damaging(0.988) tolerated(0.06) deleterious(0.760) NULL IQGAP1 8826 genome.wustl.edu 37 15 91030268 91030268 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003870.3 +1 reviewed p.F1369 1.000 206 1% 100 38% - - - - - NULL BLM 641 genome.wustl.edu 37 15 91346787 91346787 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000057.2 +1 reviewed p.G1132V 1.000 201 0% 101 35.6% - - possibly_damaging(0.951) deleterious(0) deleterious(0.839) HMMPfam_RQC,superfamily_SSF52540 FES 2242 genome.wustl.edu 37 15 91438772 91438772 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002005.3 +1 reviewed p.R818Q 0.985 59 0% 34 38.2% - - possibly_damaging(0.738) tolerated(0.22) neutral(0.312) superfamily_Protein kinase-like (PK-like) VPS33B 26276 genome.wustl.edu 37 15 91553074 91553074 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018668.3 -1 reviewed p.F120L 1.000 431 0% 181 34.8% - - benign(0) tolerated(1) - HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins SLCO3A1 28232 genome.wustl.edu 37 15 92690271 92690271 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013272.3 +1 validated p.P524S 1.000 122 0% 83 14.5% - - probably_damaging(1) tolerated(0.39) deleterious(0.516) HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors SLCO3A1 28232 genome.wustl.edu 37 15 92690373 92690373 + Missense_Mutation SNP G G C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013272.3 +1 validated p.V558L 1.000 90 0% 74 31.1% - - probably_damaging(0.987) tolerated(1) neutral(0.436) HMMPfam_OATP,superfamily_MFS general substrate transporter FAM174B 400451 genome.wustl.edu 37 15 93173457 93173457 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207446.2 -1 validated p.D155N 1.000 361 0% 190 36.8% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_DUF1180 CHD2 1106 genome.wustl.edu 37 15 93567925 93567925 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001271.3 +1 reviewed p.R1826Q 1.000 237 0% 158 18.4% - - probably_damaging(0.994) deleterious(0.04) deleterious(0.801) NULL MCTP2 55784 genome.wustl.edu 37 15 94913386 94913386 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018349.3 +1 validated p.D520G 1.000 384 0.3% 163 36.8% - - benign(0.002) tolerated(1) - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) MCTP2 55784 genome.wustl.edu 37 15 95013571 95013571 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018349.3 +1 validated p.N790K 1.000 386 0% 311 34.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NR2F2 7026 genome.wustl.edu 37 15 96880586 96880586 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021005.3 +1 reviewed p.G327D 1.000 114 0% 57 36.8% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain FAM149B2 100113400 genome.wustl.edu 37 15 97301714 97301714 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000398303 +1 known p.R267Q 0.011 188 0% 124 43.5% - - - - - NULL SYNM 23336 genome.wustl.edu 37 15 99671092 99671092 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000336292 +1 known p.D842N 0.518 155 0% 90 44.4% - - possibly_damaging(0.773) deleterious(0) deleterious(0.732) NULL SYNM 23336 genome.wustl.edu 37 15 99671320 99671320 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000336292 +1 known p.E918* 0.031 106 0% 63 38.1% - - - - - NULL SYNM 23336 genome.wustl.edu 37 15 99671341 99671341 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000336292 +1 known p.E925* 1.000 99 0% 59 30.5% - - - - - NULL HSP90B2P 7190 genome.wustl.edu 37 15 99799238 99799238 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000378906 +1 known p.K130N 1.000 160 0% 109 36.7% - - - - - superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_HSP90 LRRC28 123355 genome.wustl.edu 37 15 99892665 99892665 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144598.2 +1 provisional p.I228 0.998 248 0% 132 40.2% - - - - - superfamily_L domain-like LYSMD4 145748 genome.wustl.edu 37 15 100269634 100269634 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152449.2 -1 validated p.T196 0.001 119 0% 64 32.8% - - - - - NULL ADAMTS17 170691 genome.wustl.edu 37 15 100591855 100591855 + Missense_Mutation SNP C C T rs139385294 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139057.2 -1 reviewed p.E793K 1.000 464 0% 222 35.1% - - probably_damaging(0.955) deleterious(0.03) deleterious(0.763) NULL ADAMTS17 170691 genome.wustl.edu 37 15 100636642 100636642 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139057.2 -1 reviewed p.E686* 1.000 70 0% 82 11% - - - - - NULL LINS 55180 genome.wustl.edu 37 15 101114038 101114038 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040614.1 -1 reviewed p.S347L 0.326 188 0% 102 31.4% - - benign(0) tolerated(1) - NULL LINS 55180 genome.wustl.edu 37 15 101114441 101114441 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040614.1 -1 reviewed p.L213I 0.590 36 0% 24 62.5% - - possibly_damaging(0.938) deleterious(0) deleterious(0.828) NULL LINS 55180 genome.wustl.edu 37 15 101120817 101120817 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040614.1 -1 reviewed p.K77N 0.002 294 0% 201 12.4% - - benign(0.004) tolerated(0.12) neutral(0.261) NULL ALDH1A3 220 genome.wustl.edu 37 15 101440938 101440938 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000693.2 +1 reviewed p.D348N 0.998 146 0% 74 28.4% - - benign(0.017) tolerated(0.08) neutral(0.300) HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH LRRK1 79705 genome.wustl.edu 37 15 101602890 101602890 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024652.3 +1 validated p.K1637Q 0.967 208 0% 119 37.8% - - possibly_damaging(0.869) deleterious(0.02) deleterious(0.720) NULL LRRK1 79705 genome.wustl.edu 37 15 101605790 101605790 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024652.3 +1 validated p.I1716 0.019 159 0% 103 29.1% - - - - - NULL CHSY1 22856 genome.wustl.edu 37 15 101717801 101717801 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000254190 -1 known p.T734M 0.992 128 0% 99 36.4% - - possibly_damaging(0.771) deleterious(0.03) deleterious(0.651) HMMPfam_CHGN,superfamily_SSF53448 OR4F15 390649 genome.wustl.edu 37 15 102359009 102359009 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001674.1 +1 provisional p.S207Y 0.001 870 0% 403 35.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like AXIN1 8312 genome.wustl.edu 37 16 396834 396834 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003502.2 -1 reviewed p.S64 0.005 95 1.1% 79 41.8% - - - - - NULL TMEM8A 58986 genome.wustl.edu 37 16 424230 424230 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021259.2 -1 validated p.F582L 1.000 56 0% 52 26.9% - - probably_damaging(1) tolerated(0.13) deleterious(0.752) NULL TMEM8A 58986 genome.wustl.edu 37 16 427758 427758 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021259.2 -1 validated p.R71H 0.039 61 0% 41 36.6% - - benign(0.175) tolerated(0.27) neutral(0.050) NULL RAB11FIP3 9727 genome.wustl.edu 37 16 532623 532623 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014700.3 +1 validated p.P334 0.305 55 0% 35 31.4% - - - - - NULL NHLRC4 283948 genome.wustl.edu 37 16 618232 618232 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_176677.1 +1 provisional p.V62A 0.001 75 0% 33 42.4% - - benign(0.102) deleterious(0.01) neutral(0.414) HMMPfam_NHL,superfamily_SSF101898 WDR24 84219 genome.wustl.edu 37 16 735512 735512 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032259.2 -1 provisional p.L588 1.000 28 0% 24 33.3% - - - - - NULL MSLNL 401827 genome.wustl.edu 37 16 824962 824962 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001025190.1 -1 provisional p.M537T 1.000 11 0% 14 35.7% - - possibly_damaging(0.922) deleterious(0.01) deleterious(0.777) HMMPfam_Mesothelin CHTF18 63922 genome.wustl.edu 37 16 846780 846780 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022092.2 +1 validated p.T840 1.000 31 0% 21 38.1% - - - - - NULL CHTF18 63922 genome.wustl.edu 37 16 847922 847922 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022092.2 +1 validated p.E959K 1.000 50 0% 28 39.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LMF1 64788 genome.wustl.edu 37 16 929672 929672 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022773.2 -1 reviewed p.F265 0.013 138 0% 78 35.9% - - - - - HMMPfam_DUF1222 LMF1 64788 genome.wustl.edu 37 16 984251 984251 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022773.2 -1 reviewed p.Y169 1.000 219 0% 75 41.3% - - - - - HMMPfam_DUF1222 CACNA1H 8912 genome.wustl.edu 37 16 1251766 1251766 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021098.2 +1 reviewed p.R439H 1.000 43 0% 56 32.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CACNA1H 8912 genome.wustl.edu 37 16 1261243 1261243 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021098.2 +1 reviewed p.I1433 0.997 195 0% 98 31.6% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels BAIAP3 8938 genome.wustl.edu 37 16 1394475 1394475 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000440627 +1 known p.Q177* 0.899 175 0% 145 33.8% - - - - - NULL BAIAP3 8938 genome.wustl.edu 37 16 1395076 1395076 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003933.3 +1 reviewed p.R674H 0.998 86 0% 57 43.9% - - probably_damaging(0.994) deleterious(0.04) deleterious(0.801) NULL CLCN7 1186 genome.wustl.edu 37 16 1503841 1503841 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001287.4 -1 reviewed p.R403Q 1.000 98 0% 61 21.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Voltage_CLC,superfamily_Cl-channel_core CLCN7 1186 genome.wustl.edu 37 16 1515300 1515300 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001287.4 -1 reviewed p.S61G 0.975 168 0% 83 32.5% - - unknown(0) tolerated(0.09) - NULL CRAMP1L 57585 genome.wustl.edu 37 16 1706521 1706521 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020825.3 +1 validated p.Q588R 0.000 25 0% 10 50% - - benign(0) tolerated(0.71) neutral(0.002) NULL HN1L 90861 genome.wustl.edu 37 16 1748827 1748827 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144570.2 +1 validated p.P134L 0.000 90 0% 60 36.7% - - benign(0.167) tolerated(0.21) neutral(0.059) NULL NUBP2 10101 genome.wustl.edu 37 16 1836639 1836639 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012225.2 +1 validated p.R40C 1.000 51 0% 34 41.2% - - benign(0.007) tolerated(0.14) neutral(0.249) superfamily_SSF52540 C16orf73 254528 genome.wustl.edu 37 16 1887814 1887814 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000325962 -1 known p.L426I 1.000 166 0% 53 24.5% - - probably_damaging(0.97) deleterious(0) deleterious(0.857) NULL C16orf73 254528 genome.wustl.edu 37 16 1910434 1910434 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152764.2 -1 validated p.R101I 1.000 619 0% 327 30.3% - - possibly_damaging(0.666) deleterious(0.03) deleterious(0.601) superfamily_Nucleic_acid_OB RPL3L 6123 genome.wustl.edu 37 16 1995860 1995860 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005061.2 -1 reviewed p.K341N 1.000 279 0% 169 35.5% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Ribosomal_L3,superfamily_Translat_factor ZNF598 90850 genome.wustl.edu 37 16 2048813 2048813 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000431526 -1 known p.E751K 0.997 108 0% 55 16.4% - - probably_damaging(0.987) tolerated(0.18) deleterious(0.492) NULL PKD1 5310 genome.wustl.edu 37 16 2139983 2139983 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009944.2 -1 reviewed p.F4219 0.204 68 0% 38 50% - - - - - NULL CASKIN1 57524 genome.wustl.edu 37 16 2239038 2239038 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020764.3 -1 validated p.D203N 1.000 172 0% 121 42.1% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK E4F1 1877 genome.wustl.edu 37 16 2278450 2278450 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004424.3 +1 reviewed p.Q79K 1.000 68 0% 47 21.3% - - possibly_damaging(0.903) deleterious(0) deleterious(0.802) superfamily_C2H2 and C2HC zinc fingers ABCA3 21 genome.wustl.edu 37 16 2338039 2338039 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001089.2 -1 reviewed p.R998C 0.008 39 0% 27 44.4% - - probably_damaging(0.953) tolerated(0.18) neutral(0.453) NULL ABCA3 21 genome.wustl.edu 37 16 2358563 2358563 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001089.2 -1 reviewed p.F391 0.988 154 0% 105 27.6% - - - - - NULL ABCA3 21 genome.wustl.edu 37 16 2376201 2376201 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001089.2 -1 reviewed p.R43 1.000 203 0% 103 30.1% - - - - - NULL SRRM2 23524 genome.wustl.edu 37 16 2811844 2811844 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016333.3 +1 validated p.E439* 1.000 152 0% 78 42.3% - - - - - NULL SRRM2 23524 genome.wustl.edu 37 16 2811977 2811977 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016333.3 +1 validated p.R483K 1.000 125 0% 80 31.2% - - unknown(0) - - NULL SRRM2 23524 genome.wustl.edu 37 16 2812622 2812622 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016333.3 +1 validated p.R698K 0.940 79 0% 54 35.2% - - unknown(0) - - NULL SRRM2 23524 genome.wustl.edu 37 16 2812948 2812948 + Nonsense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016333.3 +1 validated p.K807* 0.998 187 0% 78 28.2% - - - - - NULL SRRM2 23524 genome.wustl.edu 37 16 2814737 2814737 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016333.3 +1 validated p.S1403Y 0.354 119 0% 57 43.9% - - unknown(0) - - NULL SRRM2 23524 genome.wustl.edu 37 16 2821355 2821355 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000396975 +1 known p.F311L 1.000 33 0% 26 42.3% - - possibly_damaging(0.737) - - NULL THOC6 79228 genome.wustl.edu 37 16 3076519 3076519 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024339.3 +1 validated p.E138D 1.000 347 0% 189 44.4% - - benign(0.001) tolerated(0.95) - superfamily_WD40 repeat-like CCDC64B 146439 genome.wustl.edu 37 16 3079326 3079326 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001103175.1 -1 validated p.E354D 0.248 300 0.3% 169 32% - - benign(0) tolerated(0.32) neutral(0.024) NULL ZNF200 7752 genome.wustl.edu 37 16 3283659 3283659 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003454.3 -1 validated p.R33* 0.998 239 0% 141 37.6% - - - - - NULL MEFV 4210 genome.wustl.edu 37 16 3299713 3299713 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000243.2 -1 reviewed p.T326 0.000 92 0% 82 17.1% - - - - - NULL NLRC3 197358 genome.wustl.edu 37 16 3600494 3600494 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178844.2 -1 validated p.F785L 0.992 48 0% 33 45.5% - - benign(0) tolerated(1) - HMMSmart_SM00368,superfamily_RNI-like SLX4 84464 genome.wustl.edu 37 16 3639963 3639963 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032444.2 -1 provisional p.R1226W 0.000 96 0% 74 36.5% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SLX4 84464 genome.wustl.edu 37 16 3652166 3652166 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032444.2 -1 provisional p.K301N 1.000 135 0% 103 40.8% - - probably_damaging(0.989) deleterious(0.02) deleterious(0.823) NULL TRAP1 10131 genome.wustl.edu 37 16 3708826 3708826 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016292.2 -1 validated p.E661K 0.466 66 0% 46 41.3% - - benign(0.003) tolerated(0.08) neutral(0.300) superfamily_SSF110942 TRAP1 10131 genome.wustl.edu 37 16 3726052 3726052 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016292.2 -1 validated p.E267K 1.000 232 0% 153 32.7% - - benign(0.009) tolerated(0.29) neutral(0.030) superfamily_ATP_bd_ATPase,HMMPfam_HSP90 CREBBP 1387 genome.wustl.edu 37 16 3778767 3778767 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004380.2 -1 reviewed p.P2094L 1.000 68 0% 50 52% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Nuc_recept_coact,HMMPfam_Creb_binding ADCY9 115 genome.wustl.edu 37 16 4016941 4016941 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001116.2 -1 reviewed p.S966L 0.997 45 0% 30 13.3% - - benign(0.001) tolerated(0.19) neutral(0.050) NULL ADCY9 115 genome.wustl.edu 37 16 4027514 4027514 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001116.2 -1 reviewed p.L933F 0.928 46 0% 33 33.3% - - benign(0.055) deleterious(0.04) neutral(0.352) NULL ADCY9 115 genome.wustl.edu 37 16 4164165 4164165 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001116.2 -1 reviewed p.D427N 1.000 77 0% 69 37.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain SRL 6345 genome.wustl.edu 37 16 4242289 4242289 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098814.1 -1 validated p.E429D 1.000 154 0% 88 26.1% - - benign(0) tolerated(0.61) neutral(0.004) NULL TFAP4 7023 genome.wustl.edu 37 16 4312647 4312647 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003223.2 -1 validated p.R49W 1.000 113 0% 75 34.7% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_HLH,superfamily_HLH_basic NMRAL1 57407 genome.wustl.edu 37 16 4511876 4511876 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020677.3 -1 provisional p.D269N 0.992 196 0% 151 37.1% - - benign(0.061) tolerated(0.47) neutral(0.015) superfamily_NAD(P)-bd NMRAL1 57407 genome.wustl.edu 37 16 4519410 4519410 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020677.3 -1 provisional p.R33* 0.993 191 0% 131 32.1% - - - - - HMMPfam_NmrA,superfamily_NAD(P)-bd LOC342346 342346 genome.wustl.edu 37 16 4606569 4606569 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145011.1 +1 predicted p.H27Y 0.908 72 0% 58 39.7% - - unknown(0) deleterious(0) - NULL MGRN1 23295 genome.wustl.edu 37 16 4732878 4732878 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015246.2 +1 validated p.S471 0.393 111 0% 44 27.3% - - - - - NULL ANKS3 124401 genome.wustl.edu 37 16 4751009 4751009 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133450.2 -1 provisional p.S416G 0.000 146 0% 63 36.5% - - benign(0.014) tolerated(0.54) neutral(0.008) NULL UBN1 29855 genome.wustl.edu 37 16 4908594 4908594 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079514.1 +1 validated p.R121Q 1.000 294 0% 154 23.4% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL UBN1 29855 genome.wustl.edu 37 16 4911055 4911055 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079514.1 +1 validated p.P354 0.162 144 0% 78 32.1% - - - - - NULL UBN1 29855 genome.wustl.edu 37 16 4926967 4926967 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079514.1 +1 validated p.S1040 0.000 233 0% 145 31% - - - - - NULL PPL 5493 genome.wustl.edu 37 16 4944609 4944609 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002705.4 -1 reviewed p.S418L 0.079 119 0% 74 36.5% - - benign(0.021) tolerated(0.56) neutral(0.007) HMMSmart_SM00150,superfamily_Spectrin repeat SEC14L5 9717 genome.wustl.edu 37 16 5057401 5057401 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014692.1 +1 validated p.E496* 0.620 89 0% 57 26.3% - - - - - HMMPfam_CRAL_TRIO,superfamily_CRAL_TRIO_C C16orf89 146556 genome.wustl.edu 37 16 5105317 5105317 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152459.3 -1 validated p.F304L 1.000 53 0% 45 26.7% - - probably_damaging(0.999) tolerated(0.11) deleterious(0.762) NULL FAM86A 196483 genome.wustl.edu 37 16 5140246 5140246 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_201400.2 -1 validated p.L194P 0.996 101 0% 84 31% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases RBFOX1 54715 genome.wustl.edu 37 16 7383011 7383011 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145891.2 +1 reviewed p.A3 1.000 327 0% 162 37.7% - - - - - NULL RBFOX1 54715 genome.wustl.edu 37 16 7629849 7629849 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145891.2 +1 reviewed p.S134Y 1.000 336 0% 146 34.9% - - benign(0.196) tolerated(0.09) neutral(0.315) superfamily_SSF54928 ABAT 18 genome.wustl.edu 37 16 8873372 8873372 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000663.4 +1 reviewed p.R436* 0.954 236 0% 146 37.7% - - - - - HMMPfam_Aminotran_3,superfamily_PyrdxlP-dep_Trfase_major PMM2 5373 genome.wustl.edu 37 16 8906942 8906942 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000303.2 +1 reviewed p.F206L 1.000 242 0% 176 38.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PMM,superfamily_HAD-like LOC100132944 100132944 genome.wustl.edu 37 16 8941568 8941568 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001716801.2 -1 model p.E205K 0.001 57 0% 38 34.2% - - - - - NULL USP7 7874 genome.wustl.edu 37 16 8993562 8993562 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003470.2 -1 validated p.R788* 0.918 386 0% 205 22% - - - - - NULL GRIN2A 2903 genome.wustl.edu 37 16 9857867 9857867 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000833.3 -1 reviewed p.L1178 0.003 300 0% 194 37.1% - - - - - HMMPfam_NMDAR2_C ATF7IP2 80063 genome.wustl.edu 37 16 10575768 10575768 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024997.2 +1 validated p.R571* 0.002 487 0.2% 183 43.2% - - - - - NULL CIITA 4261 genome.wustl.edu 37 16 10997631 10997631 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000246.3 +1 reviewed p.F272 0.000 193 0.5% 122 39.3% - - - - - NULL TNP2 7142 genome.wustl.edu 37 16 11362996 11362996 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005425.4 -1 validated p.R42C 0.000 508 0% 331 37.8% - - probably_damaging(0.988) tolerated(0.12) deleterious(0.698) HMMPfam_TP2 PRM2 5620 genome.wustl.edu 37 16 11369713 11369713 + Missense_Mutation SNP G G A rs140797025 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000435245 -1 known p.R133C 0.011 414 0% 226 29.6% - - possibly_damaging(0.641) - - NULL SNX29 92017 genome.wustl.edu 37 16 12136879 12136879 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032167.2 +1 validated p.E125K 1.000 39 0% 45 42.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RUN,HMMSmart_SM00593 ERCC4 2072 genome.wustl.edu 37 16 14041854 14041854 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005236.2 +1 reviewed p.L801I 1.000 308 0% 208 38.9% - - possibly_damaging(0.896) tolerated(1) neutral(0.353) superfamily_Restrict_endonuc_II-like_core MKL2 57496 genome.wustl.edu 37 16 14352005 14352005 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014048.3 +1 validated p.L867 1.000 239 0% 149 31.5% - - - - - NULL PARN 5073 genome.wustl.edu 37 16 14530620 14530620 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002582.2 -1 reviewed p.S625L 0.002 199 0% 131 37.4% - - benign(0.005) deleterious(0.01) neutral(0.406) NULL PARN 5073 genome.wustl.edu 37 16 14698008 14698008 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002582.2 -1 reviewed p.E260* 1.000 830 0% 453 35.3% - - - - - HMMPfam_CAF1,superfamily_Ribonuclease H-like NOMO1 23420 genome.wustl.edu 37 16 14951404 14951404 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014287.3 +1 reviewed p.T371I 0.999 918 0.1% 537 27% - - possibly_damaging(0.837) deleterious(0.03) deleterious(0.684) superfamily_Starch-binding domain-like NOMO1 23420 genome.wustl.edu 37 16 14978246 14978246 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014287.3 +1 reviewed p.I1043 0.988 401 0% 277 35% - - - - - superfamily_Carboxypeptidase regulatory domain PDXDC1 23042 genome.wustl.edu 37 16 15126764 15126764 + Missense_Mutation SNP G G A rs141392697 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015027.2 +1 validated p.E540K 1.000 155 0% 88 34.1% - - possibly_damaging(0.943) tolerated(0.14) deleterious(0.637) NULL KIAA0430 9665 genome.wustl.edu 37 16 15706615 15706615 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014647.3 -1 validated p.S1091 0.998 158 0% 107 38.3% - - unknown(0) deleterious(0.02) - NULL KIAA0430 9665 genome.wustl.edu 37 16 15727570 15727570 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014647.3 -1 validated p.E379 1.000 177 0% 102 32.4% - - - - - HMMPfam_DUF537 MYH11 4629 genome.wustl.edu 37 16 15814827 15814827 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040114.1 -1 reviewed p.E1561K 1.000 206 0% 169 43.2% - - possibly_damaging(0.68) tolerated(0.08) deleterious(0.542) HMMPfam_Myosin_tail_1 MYH11 4629 genome.wustl.edu 37 16 15851701 15851701 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040114.1 -1 reviewed p.E527K 1.000 333 0% 202 40.1% - - possibly_damaging(0.944) deleterious(0) deleterious(0.833) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH11 4629 genome.wustl.edu 37 16 15851845 15851845 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040114.1 -1 reviewed p.E479K 1.000 416 0% 277 30.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 ABCC1 4363 genome.wustl.edu 37 16 16232306 16232306 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004996.3 +1 reviewed p.V1460M 1.000 89 0% 88 36.4% - - possibly_damaging(0.949) deleterious(0) deleterious(0.838) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases SMG1 23049 genome.wustl.edu 37 16 18839429 18839429 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015092.4 -1 reviewed p.R3222Q 1.000 344 0% 160 21.2% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL SMG1 23049 genome.wustl.edu 37 16 18851086 18851086 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015092.4 -1 reviewed p.P2293 0.795 137 0% 77 31.2% - - - - - HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) TMC7 79905 genome.wustl.edu 37 16 19070756 19070756 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024847.3 +1 validated p.F682L 1.000 284 0% 126 35.7% - - benign(0.017) tolerated(0.23) neutral(0.042) NULL CCP110 9738 genome.wustl.edu 37 16 19543802 19543802 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014711.4 +1 validated p.R69I 0.743 388 0% 141 35.5% - - probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL CCP110 9738 genome.wustl.edu 37 16 19548258 19548258 + Missense_Mutation SNP G G A rs148705711 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014711.4 +1 validated p.E423K 0.181 308 0% 163 33.7% - - benign(0) deleterious(0.01) neutral(0.406) NULL CCP110 9738 genome.wustl.edu 37 16 19553298 19553298 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014711.4 +1 validated p.L713 0.041 346 0% 134 38.8% - - - - - NULL C16orf62 57020 genome.wustl.edu 37 16 19584549 19584549 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020314.4 +1 predicted p.E132K 1.000 157 0% 70 28.6% - - possibly_damaging(0.942) deleterious(0) deleterious(0.832) NULL GPRC5B 51704 genome.wustl.edu 37 16 19883766 19883766 + Silent SNP C C T rs182863834 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016235.1 -1 reviewed p.A134 0.456 38 0% 18 38.9% - - - - - HMMPfam_7tm_3 ACSM2A 123876 genome.wustl.edu 37 16 20486988 20486988 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010845.2 +1 validated p.L331I 0.931 253 0% 152 35.5% - - probably_damaging(0.994) tolerated(0.09) deleterious(0.748) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM2B 348158 genome.wustl.edu 37 16 20566602 20566602 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105069.1 -1 validated p.K195N 0.019 427 0.2% 205 40% - - benign(0.01) tolerated(0.36) neutral(0.021) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like THUMPD1 55623 genome.wustl.edu 37 16 20749051 20749051 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017736.3 -1 validated p.E212* 1.000 381 0% 179 33% - - - - - HMMPfam_THUMP THUMPD1 55623 genome.wustl.edu 37 16 20750321 20750321 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017736.3 -1 validated p.E102* 1.000 367 0% 223 33.6% - - - - - NULL ACSM3 6296 genome.wustl.edu 37 16 20796331 20796331 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005622.3 +1 validated p.C349G 1.000 320 0% 136 44.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like DNAH3 55567 genome.wustl.edu 37 16 20944760 20944760 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017539.1 -1 provisional p.E4023* 1.000 380 0% 198 32.3% - - - - - HMMPfam_Dynein_heavy DNAH3 55567 genome.wustl.edu 37 16 20986563 20986563 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017539.1 -1 provisional p.G2751* 0.685 435 0% 297 40.4% - - - - - NULL DNAH3 55567 genome.wustl.edu 37 16 20990817 20990817 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017539.1 -1 provisional p.L2637 0.000 409 0% 286 28.3% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH3 55567 genome.wustl.edu 37 16 20999312 20999312 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017539.1 -1 provisional p.S2226L 0.356 425 0% 216 31.5% - - possibly_damaging(0.623) tolerated(0.12) deleterious(0.478) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH3 55567 genome.wustl.edu 37 16 21110026 21110026 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017539.1 -1 provisional p.E811K 1.000 347 0% 211 37.4% - - possibly_damaging(0.92) tolerated(0.29) neutral(0.400) NULL ZP2 7783 genome.wustl.edu 37 16 21210115 21210115 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003460.1 -1 reviewed p.D666Y 0.000 259 0% 142 38% - - possibly_damaging(0.56) deleterious(0.02) deleterious(0.574) NULL ZP2 7783 genome.wustl.edu 37 16 21221032 21221032 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003460.1 -1 reviewed p.D84N 0.044 354 0% 203 28.1% - - benign(0.085) deleterious(0.05) neutral(0.351) NULL ANKS4B 257629 genome.wustl.edu 37 16 21261887 21261887 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145865.2 +1 validated p.D334N 0.959 655 0% 325 31.7% - - benign(0) tolerated(0.39) neutral(0.016) NULL OTOA 146183 genome.wustl.edu 37 16 21747669 21747669 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144672.3 +1 reviewed p.R797W 0.547 473 0% 294 21.4% - - benign(0.003) tolerated(0.22) neutral(0.042) NULL PDZD9 255762 genome.wustl.edu 37 16 22000036 22000036 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173806.3 -1 validated p.H34 0.030 204 0% 110 38.2% - - - - - NULL EEF2K 29904 genome.wustl.edu 37 16 22277813 22277813 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013302.3 +1 reviewed p.E515K 0.993 204 0% 97 42.3% - - benign(0) tolerated(0.7) neutral(0.002) NULL USP31 57478 genome.wustl.edu 37 16 23080366 23080366 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020718.3 -1 validated p.E1020D 1.000 478 0% 238 29.8% - - benign(0) tolerated(0.23) neutral(0.042) NULL SCNN1G 6340 genome.wustl.edu 37 16 23197820 23197820 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039.3 +1 reviewed p.F76L 0.560 89 0% 50 32% - - benign(0) tolerated(0.79) neutral(0.001) HMMPfam_ASC SCNN1B 6338 genome.wustl.edu 37 16 23364359 23364359 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000336.2 +1 reviewed p.I183 0.045 244 0% 112 37.5% - - - - - HMMPfam_ASC ERN2 10595 genome.wustl.edu 37 16 23702468 23702468 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033266.3 -1 validated p.L898 0.703 217 0% 152 40.1% - - - - - HMMSmart_SM00580,HMMPfam_Ribonuc_2-5A CACNG3 10368 genome.wustl.edu 37 16 24366209 24366209 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006539.2 +1 reviewed p.F117 0.903 109 0% 105 18.1% - - - - - HMMPfam_PMP22_Claudin RBBP6 5930 genome.wustl.edu 37 16 24567184 24567184 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006910.4 +1 reviewed p.T160 0.173 243 0% 127 31.5% - - - - - HMMPfam_zf-CCHC,HMMSmart_SM00343,superfamily_Retrovirus zinc finger-like domains RBBP6 5930 genome.wustl.edu 37 16 24573206 24573206 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006910.4 +1 reviewed p.P338H 0.975 652 0% 245 22.4% - - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) NULL RBBP6 5930 genome.wustl.edu 37 16 24582256 24582256 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006910.4 +1 reviewed p.R1290Q 1.000 131 0% 29 37.9% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL RBBP6 5930 genome.wustl.edu 37 16 24583347 24583347 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006910.4 +1 reviewed p.E1654* 1.000 157 0% 82 28% - - - - - NULL RBBP6 5930 genome.wustl.edu 37 16 24583372 24583372 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006910.4 +1 reviewed p.S1662Y 0.560 133 0% 70 38.6% - - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL RBBP6 5930 genome.wustl.edu 37 16 24583592 24583592 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006910.4 +1 reviewed p.K1735N 1.000 192 0% 67 32.8% - - unknown(0) deleterious(0) - NULL TNRC6A 27327 genome.wustl.edu 37 16 24788401 24788401 + Missense_Mutation SNP C C T rs112426081 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014494.2 +1 reviewed p.P104L 0.404 83 0% 69 29% - - benign(0) tolerated(0.15) neutral(0.241) NULL TNRC6A 27327 genome.wustl.edu 37 16 24829988 24829988 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014494.2 +1 reviewed p.V1683I 1.000 363 0% 172 33.7% - - benign(0.053) tolerated(0.39) neutral(0.019) NULL SLC5A11 115584 genome.wustl.edu 37 16 24909402 24909402 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000449109 +1 known p.W194R 0.967 168 0% 88 33% - - possibly_damaging(0.729) deleterious(0.02) deleterious(0.649) HMMPfam_SSF ARHGAP17 55114 genome.wustl.edu 37 16 24953418 24953418 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001006634.1 -1 validated p.P460 0.016 264 0% 136 47.8% - - - - - NULL ARHGAP17 55114 genome.wustl.edu 37 16 24966023 24966023 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000441763 -1 known p.G217E 0.976 151 0% 101 31.7% - - benign(0.006) - - HMMSmart_SM00721 JMJD5 79831 genome.wustl.edu 37 16 27226229 27226229 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145348.1 +1 reviewed p.R271Q 1.000 210 0% 139 32.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF51197 IL4R 3566 genome.wustl.edu 37 16 27367145 27367145 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000418.2 +1 reviewed p.F229 0.435 156 0.6% 99 37.4% - - - - - NULL IL21R 50615 genome.wustl.edu 37 16 27449003 27449003 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021798.2 +1 reviewed p.E116G 0.000 123 0% 83 37.3% - - benign(0.009) deleterious(0.05) neutral(0.346) superfamily_Fibronectin type III IL21R 50615 genome.wustl.edu 37 16 27454283 27454283 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021798.2 +1 reviewed p.I118T 1.000 331 0.3% 249 36.1% - - probably_damaging(1) tolerated(0.21) deleterious(0.544) superfamily_Fibronectin type III GTF3C1 2975 genome.wustl.edu 37 16 27475805 27475805 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001520.3 -1 validated p.D1903A 0.000 88 0% 61 27.9% - - benign(0.063) tolerated(0.23) neutral(0.045) NULL GTF3C1 2975 genome.wustl.edu 37 16 27523103 27523103 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001520.3 -1 validated p.E365K 0.997 236 0% 147 29.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_B-block_TFIIIC KIAA0556 23247 genome.wustl.edu 37 16 27640074 27640074 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015202.2 +1 validated p.S78L 0.732 179 0% 104 39.4% - - probably_damaging(0.98) deleterious(0.02) deleterious(0.807) NULL XPO6 23214 genome.wustl.edu 37 16 28188560 28188560 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015171.2 -1 provisional p.Y63C 1.000 261 0% 121 38% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_IBN_N,superfamily_ARM repeat SH2B1 25970 genome.wustl.edu 37 16 28883182 28883182 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015503.2 +1 reviewed p.S464L 1.000 154 0% 107 41.1% - - possibly_damaging(0.616) tolerated(0.07) deleterious(0.533) NULL ATP2A1 487 genome.wustl.edu 37 16 28913303 28913303 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173201.2 +1 reviewed p.F740L 1.000 190 0% 173 28.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M RRN3P2 653390 genome.wustl.edu 37 16 29096564 29096564 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000415221 +1 known p.V167I 0.999 594 0% 296 23.3% - - benign(0.08) tolerated(0.17) neutral(0.065) HMMPfam_RRN3 RRN3P2 653390 genome.wustl.edu 37 16 29110492 29110492 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000427965 +1 known p.I386T 1.000 179 0% 74 35.1% - - benign(0.077) deleterious(0.02) neutral(0.389) HMMPfam_RRN3 KIF22 3835 genome.wustl.edu 37 16 29810350 29810350 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007317.1 +1 reviewed p.R202W 0.988 48 0% 32 40.6% - - benign(0.006) deleterious(0.01) neutral(0.406) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 C16orf53 79447 genome.wustl.edu 37 16 29828312 29828312 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024516.3 +1 validated p.E156* 1.000 94 0% 47 23.4% - - - - - NULL MVP 9961 genome.wustl.edu 37 16 29855944 29855944 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005115.3 +1 reviewed p.D589N 1.000 109 0% 79 36.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TAOK2 9344 genome.wustl.edu 37 16 29990823 29990823 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016151.2 +1 validated p.E217K 1.000 446 0% 235 40.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PPP4C 5531 genome.wustl.edu 37 16 30094139 30094139 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002720.1 +1 provisional p.E92K 1.000 132 0% 108 31.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases PPP4C 5531 genome.wustl.edu 37 16 30096303 30096303 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002720.1 +1 provisional p.D282Y 1.000 77 0% 48 29.2% - - benign(0) tolerated(0.06) neutral(0.323) HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases GDPD3 79153 genome.wustl.edu 37 16 30122741 30122741 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024307.2 -1 validated p.F225L 0.970 297 0% 154 37.7% - - benign(0.02) tolerated(0.15) neutral(0.242) HMMPfam_GDPD,superfamily_PLC-like phosphodiesterases GDPD3 79153 genome.wustl.edu 37 16 30123644 30123644 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024307.2 -1 validated p.E156K 0.005 177 0% 121 43% - - benign(0.018) tolerated(0.12) neutral(0.261) HMMPfam_GDPD,superfamily_PLC-like phosphodiesterases CD2BP2 10421 genome.wustl.edu 37 16 30365230 30365230 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006110.2 -1 reviewed p.I123V 1.000 66 0% 58 39.7% - - benign(0.159) tolerated(0.13) neutral(0.267) NULL ITGAL 3683 genome.wustl.edu 37 16 30492807 30492807 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002209.2 +1 reviewed p.F208L 0.983 353 0% 185 10.3% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like,superfamily_Integrin alpha N-terminal domain ZNF768 79724 genome.wustl.edu 37 16 30536963 30536963 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024671.3 -1 validated p.Q166 0.428 156 0% 66 28.8% - - - - - NULL ZNF688 146542 genome.wustl.edu 37 16 30581396 30581396 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145271.3 -1 validated p.F224 1.000 16 0% 22 31.8% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF689 115509 genome.wustl.edu 37 16 30616672 30616672 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138447.1 -1 provisional p.R139Q 0.588 59 0% 34 44.1% - - possibly_damaging(0.858) tolerated(0.42) neutral(0.345) NULL SRCAP 10847 genome.wustl.edu 37 16 30718978 30718978 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006662.2 +1 validated p.R193Q 0.994 303 0% 152 34.9% - - unknown(0) - - HMMPfam_HSA,HMMSmart_SM00573 SRCAP 10847 genome.wustl.edu 37 16 30724038 30724038 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006662.2 +1 validated p.V678M 1.000 339 0% 172 39.5% - - unknown(0) - - HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases BCL7C 9274 genome.wustl.edu 37 16 30900234 30900234 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004765.2 -1 reviewed p.E159K 1.000 146 0% 123 34.1% - - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL FUS 2521 genome.wustl.edu 37 16 31201374 31201374 + Silent SNP C C A rs190724342 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004960.3 +1 reviewed p.S360 0.993 586 0.2% 274 41.2% - - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD FUS 2521 genome.wustl.edu 37 16 31202383 31202383 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004960.3 +1 reviewed p.R498Q 1.000 125 0% 44 22.7% - - probably_damaging(0.963) tolerated(0.25) neutral(0.443) NULL ITGAD 3681 genome.wustl.edu 37 16 31422182 31422182 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005353.2 +1 validated p.E447K 0.141 98 0% 39 25.6% - - benign(0.006) tolerated(0.78) neutral(0.001) HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain ZNF843 283933 genome.wustl.edu 37 16 31448122 31448122 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136509.1 -1 provisional p.A17S 0.000 65 0% 53 30.2% - - unknown(0) - - superfamily_SSF57667 ZNF267 10308 genome.wustl.edu 37 16 31927264 31927264 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003414.4 +1 validated p.R565L 0.001 189 0% 106 42.5% - - possibly_damaging(0.523) tolerated(0.16) neutral(0.236) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SHCBP1 79801 genome.wustl.edu 37 16 46638366 46638366 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024745.4 -1 validated p.D233Y 1.000 78 0% 39 41% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SHCBP1 79801 genome.wustl.edu 37 16 46642218 46642218 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024745.4 -1 validated p.R227Q 1.000 491 0% 253 32% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RAB43P1 440375 genome.wustl.edu 37 16 46660795 46660795 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000332781 -1 known p.D23N 1.000 108 0% 85 11.8% - - - - - HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 MYLK3 91807 genome.wustl.edu 37 16 46744629 46744629 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182493.2 -1 validated p.W729C 1.000 166 0% 68 29.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase NETO2 81831 genome.wustl.edu 37 16 47163219 47163219 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018092.3 -1 reviewed p.R50* 1.000 270 0% 140 40.7% - - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain PHKB 5257 genome.wustl.edu 37 16 47684808 47684808 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000293.2 +1 reviewed p.V649 1.000 420 0% 146 29.5% - - - - - HMMPfam_PHK_AB PHKB 5257 genome.wustl.edu 37 16 47727313 47727313 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000293.2 +1 reviewed p.I930 0.468 206 0% 111 24.3% - - - - - HMMPfam_PHK_AB ABCC12 94160 genome.wustl.edu 37 16 48122467 48122467 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033226.2 -1 reviewed p.R1155I 1.000 282 0% 132 43.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC12 94160 genome.wustl.edu 37 16 48145815 48145815 + Missense_Mutation SNP C C T rs186956235 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033226.2 -1 reviewed p.E666K 1.000 297 0% 189 17.5% - - probably_damaging(0.991) tolerated(0.59) neutral(0.449) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC11 85320 genome.wustl.edu 37 16 48239409 48239409 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032583.3 -1 reviewed p.L574M 0.922 124 0% 78 20.5% - - possibly_damaging(0.76) tolerated(0.14) deleterious(0.530) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC11 85320 genome.wustl.edu 37 16 48247384 48247384 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032583.3 -1 reviewed p.T442 0.000 207 0% 101 38.6% - - - - - superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC11 85320 genome.wustl.edu 37 16 48249133 48249133 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032583.3 -1 reviewed p.E358D 1.000 334 0% 223 13% - - probably_damaging(0.96) tolerated(0.35) neutral(0.424) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC11 85320 genome.wustl.edu 37 16 48256554 48256554 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032583.3 -1 reviewed p.E244D 0.992 237 0% 111 34.2% - - benign(0.322) tolerated(0.11) neutral(0.373) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain LONP2 83752 genome.wustl.edu 37 16 48381552 48381552 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031490.2 +1 provisional p.D691 0.073 169 0% 124 34.7% - - - - - HMMPfam_Lon_C,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_SSF52540 N4BP1 9683 genome.wustl.edu 37 16 48585329 48585329 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153029.3 -1 validated p.V695 0.996 232 0% 103 35% - - - - - NULL HEATR3 55027 genome.wustl.edu 37 16 50104153 50104153 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182922.2 +1 provisional p.S155Y 0.243 323 0% 151 37.1% - - benign(0) tolerated(1) - superfamily_ARM repeat NOD2 64127 genome.wustl.edu 37 16 50744557 50744557 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022162.1 +1 reviewed p.T245 0.960 123 0% 89 33.7% - - - - - NULL CYLD 1540 genome.wustl.edu 37 16 50785567 50785567 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015247.2 +1 reviewed p.L186R 0.997 332 0% 187 34.2% - - benign(0.422) tolerated(0.06) neutral(0.460) HMMPfam_CAP_GLY,superfamily_Cap-Gly domain CYLD 1540 genome.wustl.edu 37 16 50818257 50818257 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015247.2 +1 reviewed p.S615Y 1.000 335 0% 182 11% - - benign(0.189) deleterious(0) neutral(0.462) HMMPfam_UCH,superfamily_Cysteine proteinases SALL1 6299 genome.wustl.edu 37 16 51172672 51172672 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002968.2 -1 reviewed p.R1154I 1.000 303 0% 193 39.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SALL1 6299 genome.wustl.edu 37 16 51174469 51174469 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002968.2 -1 reviewed p.V555A 1.000 90 0% 75 41.3% - - probably_damaging(0.996) tolerated(0.15) deleterious(0.703) NULL TOX3 27324 genome.wustl.edu 37 16 52473275 52473275 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080430.2 -1 reviewed p.R531 1.000 156 0% 80 36.2% - - - - - NULL TOX3 27324 genome.wustl.edu 37 16 52484379 52484379 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080430.2 -1 reviewed p.A163V 0.999 241 0% 143 11.9% - - possibly_damaging(0.672) tolerated(0.31) neutral(0.265) NULL CHD9 80205 genome.wustl.edu 37 16 53191270 53191270 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025134.4 +1 validated p.F423 1.000 207 0.5% 134 29.1% - - - - - NULL CHD9 80205 genome.wustl.edu 37 16 53243565 53243565 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025134.4 +1 validated p.E542* 1.000 311 0% 99 35.4% - - - - - NULL CHD9 80205 genome.wustl.edu 37 16 53289552 53289552 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025134.4 +1 validated p.R1357Q 1.000 305 0% 129 20.2% - - possibly_damaging(0.854) deleterious(0.01) deleterious(0.735) superfamily_SSF52540 CHD9 80205 genome.wustl.edu 37 16 53341841 53341841 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000219084 +1 known p.K2343N 1.000 64 0% 41 39% - - probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL CHD9 80205 genome.wustl.edu 37 16 53357965 53357965 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025134.4 +1 validated p.L2602F 1.000 82 0% 33 45.5% - - unknown(0) deleterious(0) - NULL RBL2 5934 genome.wustl.edu 37 16 53476577 53476577 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005611.3 +1 validated p.E127K 1.000 157 0% 72 30.6% - - benign(0.406) deleterious(0.03) deleterious(0.495) HMMSmart_CYCLIN RBL2 5934 genome.wustl.edu 37 16 53495699 53495699 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005611.3 +1 validated p.E465* 1.000 439 0% 229 41.5% - - - - - HMMPfam_RB_A,superfamily_Cyclin_like RBL2 5934 genome.wustl.edu 37 16 53496517 53496517 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005611.3 +1 validated p.E504* 1.000 199 0% 86 32.6% - - - - - HMMPfam_RB_A,superfamily_Cyclin_like RBL2 5934 genome.wustl.edu 37 16 53515709 53515709 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005611.3 +1 validated p.E1071* 1.000 269 0% 152 34.2% - - - - - NULL RPGRIP1L 23322 genome.wustl.edu 37 16 53720384 53720384 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015272.2 -1 reviewed p.S246Y 1.000 383 0.3% 204 36.8% - - possibly_damaging(0.845) deleterious(0.01) deleterious(0.730) NULL FTO 79068 genome.wustl.edu 37 16 54145754 54145754 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080432.2 +1 reviewed p.S482L 0.000 221 0% 122 27% - - possibly_damaging(0.918) deleterious(0.01) deleterious(0.774) NULL IRX5 10265 genome.wustl.edu 37 16 54966716 54966716 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005853.5 +1 validated p.E186K 1.000 207 0% 119 34.5% - - probably_damaging(0.993) tolerated(0.09) deleterious(0.746) NULL LPCAT2 54947 genome.wustl.edu 37 16 55616948 55616948 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017839.4 +1 reviewed p.A525T 0.000 360 0% 110 10% - - benign(0) tolerated(0.5) neutral(0.010) NULL SLC6A2 6530 genome.wustl.edu 37 16 55703601 55703601 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001043.3 +1 reviewed p.F133L 0.993 71 0% 54 33.3% - - benign(0) tolerated(1) - HMMPfam_SNF SLC6A2 6530 genome.wustl.edu 37 16 55725862 55725862 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001043.3 +1 reviewed p.F272 0.907 108 0% 82 22% - - - - - HMMPfam_SNF CES1 1066 genome.wustl.edu 37 16 55846911 55846911 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001025195.1 -1 reviewed p.L330 0.001 491 0% 265 15.8% - - - - - HMMPfam_COesterase,superfamily_SSF53474 CES1 1066 genome.wustl.edu 37 16 55855282 55855282 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001025195.1 -1 reviewed p.L231I 0.995 237 0% 132 17.4% - - probably_damaging(0.999) tolerated(0.11) deleterious(0.762) HMMPfam_COesterase,superfamily_SSF53474 CES1 1066 genome.wustl.edu 37 16 55855329 55855329 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001025195.1 -1 reviewed p.S215F 0.980 236 0% 110 21.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_COesterase,PatternScan_CARBOXYLESTERASE_B_1,superfamily_SSF53474 GNAO1 2775 genome.wustl.edu 37 16 56370655 56370655 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020988.2 +1 validated p.V202 0.878 61 0% 54 20.4% - - - - - HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases AMFR 267 genome.wustl.edu 37 16 56442017 56442017 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144.4 -1 reviewed p.S175 0.786 145 0% 108 28.7% - - - - - NULL OGFOD1 55239 genome.wustl.edu 37 16 56508805 56508805 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018233.3 +1 validated p.H451N 1.000 285 0% 122 27% - - benign(0.275) tolerated(0.3) neutral(0.058) HMMPfam_Ofd1_CTDD NUP93 9688 genome.wustl.edu 37 16 56863003 56863003 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014669.3 +1 validated p.A303 0.490 226 0% 99 43.4% - - - - - HMMPfam_Nic96 NLRC5 84166 genome.wustl.edu 37 16 57059639 57059639 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032206.3 +1 validated p.R262C 1.000 138 0% 106 33% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases NLRC5 84166 genome.wustl.edu 37 16 57059678 57059678 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032206.3 +1 validated p.E275K 0.977 142 0% 116 44.8% - - benign(0.277) tolerated(0.16) neutral(0.089) HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases NLRC5 84166 genome.wustl.edu 37 16 57059999 57059999 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032206.3 +1 validated p.A382T 0.001 69 0% 57 31.6% - - possibly_damaging(0.731) deleterious(0.01) deleterious(0.673) HMMPfam_NACHT CPNE2 221184 genome.wustl.edu 37 16 57147250 57147250 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152727.4 +1 reviewed p.K77N 1.000 238 0% 112 43.8% - - benign(0.06) deleterious(0.01) neutral(0.410) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB GPR97 222487 genome.wustl.edu 37 16 57713114 57713114 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_170776.4 +1 validated p.G173D 0.047 144 0% 118 16.1% - - benign(0.428) tolerated(0.45) neutral(0.151) NULL CCDC135 84229 genome.wustl.edu 37 16 57734141 57734141 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032269.5 +1 validated p.D155N 0.998 98 0% 69 11.6% - - probably_damaging(0.999) tolerated(0.21) deleterious(0.534) NULL KIFC3 3801 genome.wustl.edu 37 16 57800882 57800882 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005550.3 -1 validated p.E412K 1.000 68 0% 56 25% - - benign(0.003) tolerated(0.94) - superfamily_P-loop containing nucleoside triphosphate hydrolases CNGB1 1258 genome.wustl.edu 37 16 58001095 58001095 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001297.4 -1 reviewed p.E32D 0.047 368 0% 256 39.1% - - benign(0.181) tolerated(0.1) neutral(0.303) NULL TEPP 374739 genome.wustl.edu 37 16 58011754 58011754 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199046.2 +1 validated p.D67N 0.302 71 0% 61 31.1% - - possibly_damaging(0.886) deleterious(0.04) deleterious(0.696) NULL ZNF319 57567 genome.wustl.edu 37 16 58031271 58031271 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020807.1 -1 provisional p.S300L 0.967 41 0% 35 45.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF57667 ZNF319 57567 genome.wustl.edu 37 16 58031380 58031380 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020807.1 -1 provisional p.E264K 1.000 101 0% 69 39.1% - - possibly_damaging(0.918) tolerated(0.06) deleterious(0.691) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 C16orf80 29105 genome.wustl.edu 37 16 58149300 58149300 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013242.2 -1 validated p.R113Q 0.992 484 0.2% 274 46% - - probably_damaging(0.963) deleterious(0.01) deleterious(0.811) HMMPfam_DUF667 CCDC113 29070 genome.wustl.edu 37 16 58292313 58292313 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014157.3 +1 validated p.S144 0.096 263 0% 148 34.5% - - - - - NULL CNOT1 23019 genome.wustl.edu 37 16 58559241 58559241 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016284.3 -1 validated p.R2209H 1.000 364 0% 218 30.7% - - benign(0.309) tolerated(0.06) neutral(0.419) HMMPfam_Not1 CNOT1 23019 genome.wustl.edu 37 16 58559906 58559906 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016284.3 -1 validated p.R2197H 1.000 308 0% 138 39.1% - - probably_damaging(0.961) deleterious(0.02) deleterious(0.787) HMMPfam_Not1 CNOT1 23019 genome.wustl.edu 37 16 58577605 58577605 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016284.3 -1 validated p.N1447S 1.000 204 0% 104 38.5% - - benign(0.103) tolerated(0.4) neutral(0.024) NULL CNOT1 23019 genome.wustl.edu 37 16 58622714 58622714 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016284.3 -1 validated p.D67Y 1.000 246 0% 136 36% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL CDH11 1009 genome.wustl.edu 37 16 65005552 65005552 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001797.2 -1 reviewed p.G524 1.000 393 0% 195 27.2% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DYNC1LI2 1783 genome.wustl.edu 37 16 66776563 66776563 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006141.2 -1 validated p.R103C 1.000 124 0% 83 33.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DLIC,superfamily_P-loop containing nucleoside triphosphate hydrolases CCDC79 283847 genome.wustl.edu 37 16 66804079 66804079 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136505.1 -1 provisional p.S469Y 0.013 435 0% 284 37.7% - - benign(0.028) deleterious(0.01) neutral(0.407) NULL NAE1 8883 genome.wustl.edu 37 16 66842942 66842942 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003905.3 -1 reviewed p.R396Q 1.000 336 0% 151 9.9% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) superfamily_Activating enzymes of the ubiquitin-like proteins PDP2 57546 genome.wustl.edu 37 16 66918510 66918510 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020786.1 +1 validated p.R108Q 0.833 72 0% 50 18% - - possibly_damaging(0.814) tolerated(0.38) neutral(0.325) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain CES4A 283848 genome.wustl.edu 37 16 67039259 67039259 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173815.4 +1 validated p.F399 0.004 118 0% 90 36.7% - - - - - HMMPfam_COesterase,superfamily_SSF53474 ELMO3 79767 genome.wustl.edu 37 16 67233122 67233122 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024712.3 +1 reviewed p.L18I 0.000 25 0% 21 19% - - benign(0) deleterious(0) neutral(0.445) NULL ELMO3 79767 genome.wustl.edu 37 16 67235682 67235682 + Missense_Mutation SNP C C G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024712.3 +1 reviewed p.A372G 1.000 71 0% 44 31.8% - - probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMPfam_ELMO_CED12 SLC9A5 6553 genome.wustl.edu 37 16 67290827 67290827 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004594.2 +1 validated p.Q382H 1.000 190 0% 151 43% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_Na_H_Exchanger KCTD19 146212 genome.wustl.edu 37 16 67328578 67328578 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001100915.1 -1 provisional p.E499* 1.000 158 0% 122 39.3% - - - - - NULL KCTD19 146212 genome.wustl.edu 37 16 67331472 67331472 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001100915.1 -1 provisional p.E361K 1.000 329 0% 255 36.9% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL LRRC36 55282 genome.wustl.edu 37 16 67401082 67401082 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018296.5 +1 validated p.S306* 0.762 265 0% 167 12% - - - - - NULL LRRC36 55282 genome.wustl.edu 37 16 67405063 67405063 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018296.5 +1 validated p.S471L 0.721 210 0.5% 135 38.5% - - possibly_damaging(0.489) deleterious(0) deleterious(0.607) NULL ZDHHC1 29800 genome.wustl.edu 37 16 67433334 67433334 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013304.2 -1 validated p.A152T 0.810 30 0% 20 30% - - benign(0.02) tolerated(0.1) neutral(0.287) HMMPfam_zf-DHHC ZDHHC1 29800 genome.wustl.edu 37 16 67435026 67435026 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013304.2 -1 validated p.A88T 0.043 82 1.2% 66 12.1% - - benign(0.271) tolerated(0.08) neutral(0.329) NULL FAM65A 79567 genome.wustl.edu 37 16 67575779 67575779 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024519.2 +1 validated p.R364* 0.165 153 0% 124 12.9% - - - - - NULL FAM65A 79567 genome.wustl.edu 37 16 67579328 67579328 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000428437 +1 known p.A1021T 0.648 83 0% 52 53.8% - - - - - NULL RLTPR 146206 genome.wustl.edu 37 16 67686231 67686231 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013838.1 +1 provisional p.E936* 0.491 159 0% 120 15% - - - - - NULL RLTPR 146206 genome.wustl.edu 37 16 67688786 67688786 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013838.1 +1 provisional p.E1230K 0.972 92 0% 50 26% - - possibly_damaging(0.806) deleterious(0.03) deleterious(0.668) NULL GFOD2 81577 genome.wustl.edu 37 16 67709493 67709493 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030819.3 -1 validated p.F241 1.000 58 0% 41 26.8% - - - - - HMMPfam_GFO_IDH_MocA_C,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain TSNAXIP1 55815 genome.wustl.edu 37 16 67857536 67857536 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018430.2 +1 validated p.R78I 1.000 276 0% 197 36% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL TSNAXIP1 55815 genome.wustl.edu 37 16 67858680 67858680 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018430.2 +1 validated p.E172K 0.933 192 0% 102 34.3% - - benign(0.009) tolerated(0.24) neutral(0.038) NULL PSMB10 5699 genome.wustl.edu 37 16 67970203 67970203 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002801.2 -1 reviewed p.L53M 1.000 62 0% 45 44.4% - - probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMPfam_Proteasome,PatternScan_PROTEASOME_B,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) DUS2L 54920 genome.wustl.edu 37 16 68087518 68087518 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017803.3 +1 provisional p.R75H 1.000 242 0.4% 139 15.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dus,superfamily_FMN-linked oxidoreductases ZFP90 146198 genome.wustl.edu 37 16 68597461 68597461 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000327567 +1 known p.P29L 0.955 115 0.9% 71 25.4% - - benign(0.009) tolerated(0.39) neutral(0.017) NULL CDH1 999 genome.wustl.edu 37 16 68867274 68867274 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004360.3 +1 reviewed p.E841K 0.970 169 0% 122 38.5% - - possibly_damaging(0.948) tolerated(0.16) neutral(0.451) HMMPfam_Cadherin_C TMCO7 79613 genome.wustl.edu 37 16 68893913 68893913 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024562.1 +1 validated p.R74K 0.795 164 0% 116 28.4% - - possibly_damaging(0.68) tolerated(0.51) neutral(0.252) NULL TMCO7 79613 genome.wustl.edu 37 16 68894402 68894402 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024562.1 +1 validated p.R237I 0.038 124 0% 70 15.7% - - benign(0.03) deleterious(0.02) neutral(0.385) NULL TMCO7 79613 genome.wustl.edu 37 16 68934385 68934385 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024562.1 +1 validated p.L476F 0.854 787 0% 418 34.7% - - benign(0.01) tolerated(0.58) neutral(0.005) superfamily_ARM repeat,HMMPfam_DUF2435 VPS4A 27183 genome.wustl.edu 37 16 69354623 69354623 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013245.2 +1 reviewed p.L268I 1.000 81 0% 65 30.8% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases TERF2 7014 genome.wustl.edu 37 16 69402327 69402327 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005652.2 -1 reviewed p.K258T 0.994 593 0% 334 31.4% - - benign(0.15) tolerated(0.33) neutral(0.037) NULL PDPR 55066 genome.wustl.edu 37 16 70177542 70177542 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017990.3 +1 validated p.A579S 1.000 307 0% 184 20.7% - - benign(0.024) deleterious(0.04) neutral(0.350) HMMPfam_GCV_T,superfamily_SSF103025 PDPR 55066 genome.wustl.edu 37 16 70190750 70190750 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017990.3 +1 validated p.D870Y 1.000 167 0.6% 126 23% - - possibly_damaging(0.708) tolerated(0.13) deleterious(0.508) NULL DDX19B 11269 genome.wustl.edu 37 16 70346536 70346536 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007242.4 +1 reviewed p.E28K 1.000 581 0% 282 14.2% - - possibly_damaging(0.442) tolerated(0.08) neutral(0.445) NULL DDX19B 11269 genome.wustl.edu 37 16 70366965 70366965 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007242.4 +1 reviewed p.I427 0.996 374 0% 263 26.2% - - - - - HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases SF3B3 23450 genome.wustl.edu 37 16 70588972 70588972 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012426.4 +1 reviewed p.R525W 1.000 338 0% 181 32.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SF3B3 23450 genome.wustl.edu 37 16 70597801 70597801 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012426.4 +1 reviewed p.G771S 1.000 405 0% 224 33% - - probably_damaging(0.988) deleterious(0.02) deleterious(0.821) NULL IL34 146433 genome.wustl.edu 37 16 70688526 70688526 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152456.2 +1 validated p.T38 0.014 411 0% 294 38.1% - - - - - NULL HYDIN 54768 genome.wustl.edu 37 16 70852311 70852311 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032821.2 -1 validated p.F4863L 0.783 173 0% 152 34.2% - - benign(0.007) tolerated(0.38) neutral(0.018) NULL HYDIN 54768 genome.wustl.edu 37 16 70955078 70955078 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032821.2 -1 validated p.E2400K 0.998 207 0% 142 27.5% - - possibly_damaging(0.806) tolerated(0.29) neutral(0.333) NULL HYDIN 54768 genome.wustl.edu 37 16 71012932 71012932 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032821.2 -1 validated p.Y1507C 1.000 856 0% 521 24.4% - - probably_damaging(0.983) tolerated(0.09) deleterious(0.726) NULL HYDIN 54768 genome.wustl.edu 37 16 71163646 71163646 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032821.2 -1 validated p.R375Q 1.000 378 0% 237 20.3% - - benign(0.046) tolerated(0.57) neutral(0.009) NULL FTSJD1 55783 genome.wustl.edu 37 16 71318755 71318755 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099642.1 -1 validated p.L357I 1.000 124 0% 77 35.1% - - possibly_damaging(0.526) tolerated(0.13) neutral(0.430) NULL ZNF23 7571 genome.wustl.edu 37 16 71483436 71483436 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145911.1 -1 provisional p.E164D 0.092 117 0% 88 39.8% - - benign(0.001) tolerated(0.14) neutral(0.249) NULL ZNF23 7571 genome.wustl.edu 37 16 71487970 71487970 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145911.1 -1 provisional p.E3D 1.000 470 0% 191 27.2% - - possibly_damaging(0.783) deleterious(0) deleterious(0.738) HMMSmart_KRAB ZNF19 7567 genome.wustl.edu 37 16 71509236 71509236 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006961.3 -1 reviewed p.R405I 0.023 284 0% 163 34.4% - - possibly_damaging(0.446) deleterious(0.05) deleterious(0.491) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF19 7567 genome.wustl.edu 37 16 71509842 71509842 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006961.3 -1 reviewed p.S203L 0.000 268 0% 173 27.2% - - probably_damaging(0.979) tolerated(0.32) neutral(0.446) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF19 7567 genome.wustl.edu 37 16 71512807 71512807 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006961.3 -1 reviewed p.E45D 1.000 351 0% 171 35.7% - - possibly_damaging(0.636) deleterious(0.02) deleterious(0.606) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) TAT 6898 genome.wustl.edu 37 16 71604296 71604296 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000353.2 -1 reviewed p.R306Q 1.000 103 0% 44 38.6% - - probably_damaging(0.996) tolerated(0.13) deleterious(0.714) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases PHLPP2 23035 genome.wustl.edu 37 16 71682808 71682808 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015020.2 -1 validated p.F1319 1.000 93 0% 68 17.6% - - - - - NULL ATXN1L 342371 genome.wustl.edu 37 16 71885267 71885267 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001137675.2 +1 validated p.E542K 1.000 195 0.5% 141 35.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_AXH,superfamily_Ataxin-1_HBP1 PMFBP1 83449 genome.wustl.edu 37 16 72188118 72188118 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031293.2 -1 validated p.E136* 1.000 296 0% 141 13.5% - - - - - NULL ZFHX3 463 genome.wustl.edu 37 16 72821815 72821815 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006885.3 -1 reviewed p.D3454N 1.000 80 0% 47 48.9% - - unknown(0) - - NULL ZFHX3 463 genome.wustl.edu 37 16 72828389 72828389 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006885.3 -1 reviewed p.R2731Q 1.000 76 0% 50 36% - - possibly_damaging(0.949) - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFHX3 463 genome.wustl.edu 37 16 72828693 72828693 + Missense_Mutation SNP C C T rs145288413 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006885.3 -1 reviewed p.D2630N 1.000 298 0.3% 157 22.3% - - probably_damaging(0.99) - - superfamily_Homeodomain-like ZFHX3 463 genome.wustl.edu 37 16 72830892 72830892 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006885.3 -1 reviewed p.E1897K 1.000 521 0% 272 35.7% - - unknown(0) - - NULL ENSG00000226351 0 genome.wustl.edu 37 16 73127011 73127011 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000433532 +1 known p.R19I 0.000 333 0% 202 31.7% - - - - - NULL LOC100289496 100289496 genome.wustl.edu 37 16 73164972 73164972 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344114.1 -1 model p.E53K 0.000 475 0% 204 61.8% - - benign(0.35) - - NULL NPIPL2 440348 genome.wustl.edu 37 16 74425638 74425638 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000429990 +1 known p.P331H 0.033 464 0% 424 11.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_NPIP MLKL 197259 genome.wustl.edu 37 16 74719432 74719432 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152649.2 -1 validated p.E258K 1.000 462 0% 305 29.5% - - benign(0.311) deleterious(0.03) neutral(0.462) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ZFP1 162239 genome.wustl.edu 37 16 75203619 75203619 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153688.2 +1 validated p.R204I 1.000 110 0% 63 41.3% - - possibly_damaging(0.727) deleterious(0.01) deleterious(0.670) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers BCAR1 9564 genome.wustl.edu 37 16 75269100 75269100 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014567.3 -1 validated p.R566Q 0.145 12 0% 13 61.5% - - probably_damaging(0.989) tolerated(0.6) neutral(0.444) HMMPfam_Serine_rich BCAR1 9564 genome.wustl.edu 37 16 75276891 75276891 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014567.3 -1 validated p.T37M 1.000 85 0% 69 34.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain CHST6 4166 genome.wustl.edu 37 16 75513135 75513135 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021615.4 -1 reviewed p.V198M 1.000 36 0% 41 34.1% - - possibly_damaging(0.934) deleterious(0) deleterious(0.825) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 CHST6 4166 genome.wustl.edu 37 16 75513562 75513562 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021615.4 -1 reviewed p.F55 1.000 16 0% 14 57.1% - - - - - HMMPfam_Sulfotransfer_1,superfamily_SSF52540 TERF2IP 54386 genome.wustl.edu 37 16 75690213 75690213 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018975.3 +1 reviewed p.E302* 0.757 115 0% 79 34.2% - - - - - NULL CNTNAP4 85445 genome.wustl.edu 37 16 76523650 76523650 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033401.3 +1 reviewed p.R650K 0.835 134 0% 56 25% - - - - - NULL CNTNAP4 85445 genome.wustl.edu 37 16 76587179 76587179 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138994.3 +1 validated e21-1 1.000 98 0% 59 33.9% - - - - - - ADAMTS18 170692 genome.wustl.edu 37 16 77353859 77353859 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199355.2 -1 reviewed p.D807N 1.000 94 0% 70 51.4% - - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_ADAM_spacer1 VAT1L 57687 genome.wustl.edu 37 16 78005746 78005746 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020927.1 +1 provisional e8-1 1.000 184 0% 113 38.1% - - - - - - CLEC3A 10143 genome.wustl.edu 37 16 78064613 78064613 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005752.3 +1 validated p.A157S 0.950 140 0% 121 25.6% - - benign(0) tolerated(0.85) neutral(0.001) HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold CMC2 56942 genome.wustl.edu 37 16 81030951 81030951 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020188.3 -1 validated p.L17 1.000 546 0% 317 11.7% - - - - - HMMPfam_Cmc1 CENPN 55839 genome.wustl.edu 37 16 81045684 81045684 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001100625.1 +1 validated p.S47Y 0.000 269 0% 148 39.2% - - benign(0.005) tolerated(1) - HMMPfam_CHL4 ATMIN 23300 genome.wustl.edu 37 16 81075941 81075941 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015251.2 +1 validated p.S173L 0.939 139 0% 54 38.9% - - probably_damaging(0.975) tolerated(0.28) neutral(0.449) HMMSmart_SM00355 PKD1L2 114780 genome.wustl.edu 37 16 81219103 81219103 + Missense_Mutation SNP C C T rs114183450 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001076780.1 -1 reviewed p.R664Q 0.059 71 0% 64 14.1% - - benign(0.012) tolerated(0.84) neutral(0.001) NULL PKD1L2 114780 genome.wustl.edu 37 16 81219188 81219188 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001076780.1 -1 reviewed p.R636C 0.443 44 0% 49 36.7% - - possibly_damaging(0.916) deleterious(0.02) deleterious(0.750) NULL BCMO1 53630 genome.wustl.edu 37 16 81272516 81272516 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017429.2 +1 reviewed p.M1I 0.305 181 0% 81 33.3% - - possibly_damaging(0.77) deleterious(0) deleterious(0.730) HMMPfam_RPE65 GAN 8139 genome.wustl.edu 37 16 81385256 81385256 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022041.3 +1 reviewed p.S79L 1.000 355 0% 174 41.4% - - possibly_damaging(0.927) deleterious(0.01) deleterious(0.780) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB PLCG2 5336 genome.wustl.edu 37 16 81888096 81888096 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002661.2 +1 validated p.D81Y 1.000 176 0% 97 33% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 HSD17B2 3294 genome.wustl.edu 37 16 82104725 82104725 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002153.2 +1 validated p.S219R 1.000 265 0% 150 16% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_adh_short,PatternScan_ADH_SHORT,superfamily_NAD(P)-binding Rossmann-fold domains NECAB2 54550 genome.wustl.edu 37 16 84012114 84012114 + Nonsense_Mutation SNP G G T rs143707961 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019065.2 +1 provisional p.E98* 1.000 272 0% 155 31% - - - - - HMMSmart_EFh,superfamily_SSF47473 NECAB2 54550 genome.wustl.edu 37 16 84034371 84034371 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019065.2 +1 provisional p.I335 0.998 384 0% 178 15.7% - - - - - HMMPfam_ABM,superfamily_Dimer_A_B_barrel SLC38A8 146167 genome.wustl.edu 37 16 84043404 84043404 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080442.1 -1 provisional p.V431 0.637 78 0% 52 28.8% - - - - - NULL SLC38A8 146167 genome.wustl.edu 37 16 84056457 84056457 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080442.1 -1 provisional p.R243H 0.000 123 0% 67 40.3% - - benign(0.011) deleterious(0.05) neutral(0.346) HMMPfam_Aa_trans MBTPS1 8720 genome.wustl.edu 37 16 84089672 84089672 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003791.2 -1 reviewed p.S967L 0.877 260 0% 101 44.6% - - benign(0.001) deleterious(0.02) neutral(0.383) NULL ADAD2 161931 genome.wustl.edu 37 16 84228108 84228108 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139174.3 +1 validated p.T232I 0.160 122 0% 62 33.9% - - possibly_damaging(0.887) tolerated(0.09) deleterious(0.643) HMMPfam_dsrm KCNG4 93107 genome.wustl.edu 37 16 84270788 84270788 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172347.1 -1 reviewed p.D102N 1.000 58 0% 34 47.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_K_tetra,superfamily_POZ domain KIAA0182 23199 genome.wustl.edu 37 16 85689517 85689517 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014615.2 +1 validated p.A328V 0.253 37 0% 23 39.1% - - unknown(0) tolerated(0.06) - NULL KIAA0182 23199 genome.wustl.edu 37 16 85697156 85697156 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000438180 +1 known p.S62L 0.969 140 0% 96 34.4% - - - - - NULL COX4I1 1327 genome.wustl.edu 37 16 85838590 85838590 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001861.2 +1 reviewed p.R41 0.999 159 0% 53 37.7% - - - - - HMMPfam_COX4,superfamily_Mitochondrial cytochrome c oxidase subunit IV FBXO31 79791 genome.wustl.edu 37 16 87377315 87377315 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024735.3 -1 validated p.V182 0.970 136 0% 97 46.4% - - - - - NULL MAP1LC3B 81631 genome.wustl.edu 37 16 87432442 87432442 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022818.4 +1 reviewed p.R21Q 0.935 339 0% 201 34.3% - - benign(0.004) tolerated(0.52) neutral(0.009) HMMPfam_MAP1_LC3,superfamily_Ubiquitin-like ZCCHC14 23174 genome.wustl.edu 37 16 87446128 87446128 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015144.2 -1 validated p.V596 0.019 62 0% 47 42.6% - - - - - NULL JPH3 57338 genome.wustl.edu 37 16 87678316 87678316 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020655.2 +1 reviewed p.D279N 1.000 75 0% 72 38.9% - - possibly_damaging(0.679) tolerated(0.07) deleterious(0.561) NULL ZC3H18 124245 genome.wustl.edu 37 16 88694366 88694366 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144604.3 +1 validated p.R770W 1.000 140 0% 43 39.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PIEZO1 9780 genome.wustl.edu 37 16 88786329 88786329 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000451779 -1 known p.F1605 0.956 97 0% 45 40% - - - - - NULL PIEZO1 9780 genome.wustl.edu 37 16 88787640 88787640 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000451779 -1 known p.R1405C 0.001 85 0% 77 29.9% - - possibly_damaging(0.937) tolerated(0.13) deleterious(0.635) NULL CDT1 81620 genome.wustl.edu 37 16 88873739 88873739 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030928.3 +1 validated p.P442 0.002 52 0% 26 30.8% - - - - - NULL CDT1 81620 genome.wustl.edu 37 16 88873815 88873815 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030928.3 +1 validated p.E468K 0.998 56 0% 44 34.1% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL APRT 353 genome.wustl.edu 37 16 88876199 88876199 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000485.2 -1 reviewed p.V150 0.975 99 0% 73 34.2% - - - - - HMMPfam_Pribosyltran,superfamily_SSF53271 GALNS 2588 genome.wustl.edu 37 16 88898499 88898499 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000512.4 -1 reviewed p.N303 0.209 54 0% 55 32.7% - - - - - HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core PABPN1L 390748 genome.wustl.edu 37 16 88931331 88931331 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080487.1 -1 provisional p.F195S 1.000 27 0% 20 30% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD CDH15 1013 genome.wustl.edu 37 16 89254642 89254642 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004933.2 +1 reviewed p.F309L 0.037 53 0% 38 28.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin ANKRD11 29123 genome.wustl.edu 37 16 89349023 89349023 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013275.4 -1 validated p.T1309 0.006 95 0% 63 34.9% - - - - - superfamily_Ankyrin repeat ANKRD11 29123 genome.wustl.edu 37 16 89350504 89350504 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013275.4 -1 validated p.E816K 0.983 187 0% 95 37.9% - - benign(0.092) deleterious(0.03) neutral(0.371) superfamily_Ankyrin repeat CHMP1A 5119 genome.wustl.edu 37 16 89715821 89715821 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001083314.1 -1 validated p.S57L 1.000 133 0% 79 50.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C16orf7 9605 genome.wustl.edu 37 16 89776302 89776302 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004913.2 -1 validated p.S424L 0.998 82 0% 56 37.5% - - probably_damaging(0.995) tolerated(0.25) deleterious(0.494) superfamily_SSF109993 SPIRE2 84501 genome.wustl.edu 37 16 89922085 89922085 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032451.1 +1 validated p.P323 0.000 67 0% 53 37.7% - - - - - NULL MC1R 4157 genome.wustl.edu 37 16 89986080 89986080 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002386.3 +1 reviewed p.I138 0.191 65 0% 55 25.5% - - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like DEF8 54849 genome.wustl.edu 37 16 90030922 90030922 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207514.1 +1 validated p.V459M 1.000 68 0% 81 39.5% - - probably_damaging(0.961) deleterious(0.02) deleterious(0.787) HMMSmart_SM00109,superfamily_Cysteine-rich domain PRDM7 11105 genome.wustl.edu 37 16 90124735 90124735 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098173.1 -1 reviewed p.P481S 0.510 268 0% 146 33.6% - - benign(0) - - NULL VPS53 55275 genome.wustl.edu 37 17 559187 559187 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128159.1 -1 reviewed p.E127* 1.000 417 0% 205 34.6% - - - - - HMMPfam_Vps53_N VPS53 55275 genome.wustl.edu 37 17 613778 613778 + Missense_Mutation SNP C C T rs150204494 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128159.1 -1 reviewed p.E55K 1.000 332 0% 181 36.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Vps53_N GEMIN4 50628 genome.wustl.edu 37 17 649240 649240 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015721.2 -1 reviewed p.N681 0.000 100 0% 50 42% - - - - - NULL YWHAE 7531 genome.wustl.edu 37 17 1265279 1265279 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006761.4 -1 reviewed p.I96 1.000 74 0% 40 32.5% - - - - - HMMPfam_14-3-3,HMMSmart_SM00101,superfamily_14-3-3 protein YWHAE 7531 genome.wustl.edu 37 17 1268292 1268292 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006761.4 -1 reviewed p.R42I 1.000 497 0.4% 256 41.8% - - possibly_damaging(0.818) deleterious(0.01) deleterious(0.715) HMMPfam_14-3-3,HMMSmart_SM00101,PatternScan_1433_1,superfamily_14-3-3 protein LOC100288617 100288617 genome.wustl.edu 37 17 1479996 1479996 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343497.1 +1 model p.E262K 0.803 28 0% 25 28% - - - - - NULL RILP 83547 genome.wustl.edu 37 17 1549777 1549777 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031430.2 -1 validated p.E389* 0.000 138 0% 96 26% - - - - - NULL PRPF8 10594 genome.wustl.edu 37 17 1564650 1564650 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006445.3 -1 reviewed p.R1418Q 1.000 365 0% 201 36.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SMYD4 114826 genome.wustl.edu 37 17 1690859 1690859 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052928.2 -1 validated p.R526H 1.000 140 0% 102 17.6% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_SET domain SMG6 23293 genome.wustl.edu 37 17 2202843 2202843 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017575.4 -1 validated p.R402W 1.000 165 0.6% 102 32.4% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL SRR 63826 genome.wustl.edu 37 17 2222205 2222205 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021947.1 +1 provisional p.Y127 0.994 235 0% 133 33.1% - - - - - HMMPfam_PALP,superfamily_PyrdxlP-dep_enz_bsu TSR1 55720 genome.wustl.edu 37 17 2236293 2236293 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018128.4 -1 validated p.D423Y 1.000 425 0% 230 32.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SGSM2 9905 genome.wustl.edu 37 17 2270594 2270594 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014853.2 +1 validated p.S440G 1.000 61 0% 58 36.2% - - possibly_damaging(0.799) tolerated(0.2) neutral(0.350) NULL SGSM2 9905 genome.wustl.edu 37 17 2276371 2276371 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014853.2 +1 validated p.E638G 1.000 112 0% 79 30.4% - - benign(0.07) tolerated(0.16) neutral(0.065) HMMSmart_TBC,superfamily_RabGAP_TBC KIAA0664 23277 genome.wustl.edu 37 17 2598285 2598285 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015229.3 -1 validated p.K867N 1.000 212 0% 122 31.1% - - benign(0.15) deleterious(0.02) neutral(0.396) NULL OR1D2 4991 genome.wustl.edu 37 17 2995907 2995907 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002548.2 -1 validated p.C128 0.894 360 0% 263 33.8% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR1G1 8390 genome.wustl.edu 37 17 3030538 3030538 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003555.1 -1 provisional p.F103C 0.888 157 0% 65 44.6% - - possibly_damaging(0.949) deleterious(0) deleterious(0.838) HMMPfam_7tm_1,superfamily_SSF81321 OR3A3 8392 genome.wustl.edu 37 17 3324419 3324419 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012373.2 +1 validated p.F186L 1.000 488 0% 268 20.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 SPATA22 84690 genome.wustl.edu 37 17 3352262 3352262 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032598.4 -1 validated p.E171* 0.026 606 0% 290 32.8% - - - - - NULL SPATA22 84690 genome.wustl.edu 37 17 3370780 3370780 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032598.4 -1 validated p.K38E 1.000 342 0% 190 36.3% - - benign(0.026) tolerated(0.22) neutral(0.043) NULL ATP2A3 489 genome.wustl.edu 37 17 3844743 3844743 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_174953.1 -1 reviewed p.F584C 1.000 76 0% 55 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M ATP2A3 489 genome.wustl.edu 37 17 3844886 3844886 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_174953.1 -1 reviewed p.P536 0.982 41 0% 41 29.3% - - - - - HMMPfam_Hydrolase,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M ZZEF1 23140 genome.wustl.edu 37 17 3920917 3920917 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015113.3 -1 validated p.R2583 0.958 172 0% 148 37.8% - - - - - NULL ZZEF1 23140 genome.wustl.edu 37 17 3935507 3935507 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015113.3 -1 validated p.E2269* 1.000 286 0% 144 38.9% - - - - - NULL ZZEF1 23140 genome.wustl.edu 37 17 3984717 3984717 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015113.3 -1 validated p.E928* 0.983 105 0% 71 25.4% - - - - - NULL ZZEF1 23140 genome.wustl.edu 37 17 3999173 3999173 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015113.3 -1 validated p.K622T 1.000 283 0% 131 17.6% - - benign(0.389) deleterious(0) deleterious(0.569) NULL ZZEF1 23140 genome.wustl.edu 37 17 4027298 4027298 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015113.3 -1 validated p.E134D 1.000 260 0% 164 12.8% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand SPNS2 124976 genome.wustl.edu 37 17 4436575 4436575 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001124758.1 +1 provisional p.L376M 0.990 41 0% 29 44.8% - - probably_damaging(0.994) tolerated(0.07) deleterious(0.771) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter GGT6 124975 genome.wustl.edu 37 17 4462341 4462341 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001122890.1 -1 validated p.W151R 0.999 42 0% 32 31.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_G_glu_transpept SMTNL2 342527 genome.wustl.edu 37 17 4496467 4496467 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001114974.1 +1 validated e3+1 0.999 40 0% 38 31.6% - - - - - - TM4SF5 9032 genome.wustl.edu 37 17 4685877 4685877 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003963.2 +1 reviewed p.R113Q 0.129 142 0% 107 33.6% - - benign(0.029) tolerated(0.57) neutral(0.007) HMMPfam_L6_membrane ENSG00000249874 0 genome.wustl.edu 37 17 4692136 4692136 + RNA SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000510649 -1 known NULL 0.002 12 0.000 9 0.444 - - - - - - GLTPD2 388323 genome.wustl.edu 37 17 4692388 4692388 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001014985.1 +1 provisional p.L28F 0.002 119 0% 69 31.9% - - possibly_damaging(0.828) deleterious(0) deleterious(0.758) NULL PSMB6 5694 genome.wustl.edu 37 17 4700750 4700750 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002798.1 +1 reviewed p.R63Q 1.000 176 0% 113 42.5% - - probably_damaging(0.993) deleterious(0.03) deleterious(0.815) HMMPfam_Proteasome,PatternScan_PROTEASOME_B,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) PLD2 5338 genome.wustl.edu 37 17 4711611 4711611 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002663.3 +1 validated p.D95N 0.599 156 0% 89 22.5% - - benign(0) tolerated(0.27) neutral(0.034) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain GP1BA 2811 genome.wustl.edu 37 17 4837384 4837384 + Silent SNP C C T rs148656162 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000173.5 +1 reviewed p.I482 0.000 181 0% 90 36.7% - - - - - NULL SPAG7 9552 genome.wustl.edu 37 17 4863824 4863824 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004890.2 -1 validated p.D58N 1.000 474 0% 286 40.9% - - benign(0.005) tolerated(0.38) neutral(0.018) HMMPfam_R3H,HMMSmart_R3H,superfamily_SSF82708 CAMTA2 23125 genome.wustl.edu 37 17 4876485 4876485 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015099.3 -1 validated p.F755L 1.000 298 0% 149 37.6% - - possibly_damaging(0.631) tolerated(0.56) neutral(0.227) HMMPfam_Ank,superfamily_Ankyrin repeat INCA1 388324 genome.wustl.edu 37 17 4892100 4892100 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_213726.2 -1 validated p.R164C 0.000 260 0% 138 37% - - probably_damaging(0.988) tolerated(0.14) deleterious(0.687) NULL KIF1C 10749 genome.wustl.edu 37 17 4905839 4905839 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006612.5 +1 validated p.E170 1.000 201 0% 125 33.6% - - - - - HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 KIF1C 10749 genome.wustl.edu 37 17 4906119 4906119 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006612.5 +1 validated p.T234 0.025 128 0.8% 102 43.1% - - - - - HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 KIF1C 10749 genome.wustl.edu 37 17 4926781 4926781 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006612.5 +1 validated p.E883* 0.999 48 0% 33 24.2% - - - - - NULL USP6 9098 genome.wustl.edu 37 17 5041492 5041492 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004505.2 +1 validated p.N334 0.128 173 0% 101 36.6% - - - - - superfamily_Ypt/Rab-GAP domain of gyp1p RABEP1 9135 genome.wustl.edu 37 17 5235304 5235304 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004703.4 +1 validated p.R75Q 1.000 325 0% 133 42.9% - - benign(0.033) tolerated(0.36) neutral(0.022) NULL RABEP1 9135 genome.wustl.edu 37 17 5280483 5280483 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004703.4 +1 validated p.E700* 1.000 182 0% 62 43.5% - - - - - HMMPfam_Rab5-bind RABEP1 9135 genome.wustl.edu 37 17 5281513 5281513 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004703.4 +1 validated p.V753M 0.951 251 0% 107 34.6% - - benign(0.013) tolerated(0.1) neutral(0.287) HMMPfam_Rab5-bind RABEP1 9135 genome.wustl.edu 37 17 5284730 5284730 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004703.4 +1 validated p.R806I 1.000 277 0% 128 39.8% - - possibly_damaging(0.91) tolerated(0.08) deleterious(0.662) HMMPfam_Rab5-bind FAM64A 54478 genome.wustl.edu 37 17 6348690 6348690 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019013.1 +1 provisional p.R87H 0.997 127 0% 58 15.5% - - benign(0.028) tolerated(0.15) neutral(0.242) HMMPfam_DUF1466 KIAA0753 9851 genome.wustl.edu 37 17 6515254 6515254 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014804.2 -1 validated p.A510 0.000 409 0% 258 22.5% - - - - - NULL CLEC10A 10462 genome.wustl.edu 37 17 6978690 6978690 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182906.2 -1 reviewed p.A257 0.000 201 0% 154 11.7% - - - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like ACADVL 37 genome.wustl.edu 37 17 7124898 7124898 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000018.2 +1 reviewed p.G173 0.122 125 0% 62 33.9% - - - - - HMMPfam_Acyl-CoA_dh_N,superfamily_Acyl-CoA dehydrogenase NM domain-like DVL2 1856 genome.wustl.edu 37 17 7132592 7132592 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004422.2 -1 reviewed p.E273D 1.000 178 0% 117 43.6% - - benign(0.07) tolerated(0.52) neutral(0.014) HMMPfam_PDZ,superfamily_PDZ domain-like SLC2A4 6517 genome.wustl.edu 37 17 7187948 7187948 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042.2 +1 reviewed p.A291V 0.995 68 0% 64 40.6% - - benign(0.002) tolerated(0.06) neutral(0.323) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter KCTD11 147040 genome.wustl.edu 37 17 7256762 7256762 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001002914.2 +1 validated p.P167 0.004 31 0% 26 53.8% - - - - - NULL SLC35G6 643664 genome.wustl.edu 37 17 7386013 7386013 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001102614.1 +1 provisional p.G237D 0.938 305 0% 256 35.2% - - benign(0.299) tolerated(0.09) neutral(0.389) HMMPfam_DUF6,superfamily_SSF103481 POLR2A 5430 genome.wustl.edu 37 17 7416821 7416821 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000937.3 +1 validated p.P1746 0.999 1705 0.2% 1102 39.2% - - - - - HMMPfam_RNA_pol_Rpb1_R,PatternScan_RNA_POL_II_REPEAT TNFSF12-TNFSF13 407977 genome.wustl.edu 37 17 7463447 7463447 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172089.2 +1 reviewed p.R236Q 0.993 79 0% 51 33.3% - - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_TNF,HMMSmart_TNF,PatternScan_TNF_1,superfamily_TNF_like CD68 968 genome.wustl.edu 37 17 7483613 7483613 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001251.2 +1 reviewed p.R179* 0.171 303 0.3% 160 36.2% - - - - - HMMPfam_Lamp FXR2 9513 genome.wustl.edu 37 17 7509051 7509051 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004860.3 -1 reviewed p.Q47P 1.000 279 0% 131 35.1% - - probably_damaging(0.961) deleterious(0.01) deleterious(0.810) NULL SAT2 112483 genome.wustl.edu 37 17 7530328 7530328 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133491.3 -1 validated p.F79L 1.000 150 0% 78 29.5% - - benign(0.128) tolerated(0.11) neutral(0.282) HMMPfam_Acetyltransf_1,superfamily_Acyl_CoA_acyltransferase ATP1B2 482 genome.wustl.edu 37 17 7556709 7556709 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001678.3 +1 reviewed p.Y44D 1.000 380 0% 213 39.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Na_K-ATPase TP53 7157 genome.wustl.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000546.4 -1 reviewed p.R213* 0.893 420 0% 220 70.5% - - - - - superfamily_p53-like transcription factors,HMMPfam_P53 TP53 7157 genome.wustl.edu 37 17 7578458 7578458 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000546.4 -1 reviewed p.R158C 0.981 154 0% 87 12.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_p53-like transcription factors,HMMPfam_P53 DNAH2 146754 genome.wustl.edu 37 17 7637556 7637556 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020877.2 +1 validated p.M228I 0.995 389 0.3% 178 28.7% - - benign(0.009) tolerated(0.38) neutral(0.018) NULL DNAH2 146754 genome.wustl.edu 37 17 7640572 7640572 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020877.2 +1 validated p.R389Q 0.999 204 0% 115 32.2% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_DHC_N1 DNAH2 146754 genome.wustl.edu 37 17 7643052 7643052 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020877.2 +1 validated p.V391A 0.997 158 0% 120 35.8% - - possibly_damaging(0.799) deleterious(0) deleterious(0.746) HMMPfam_DHC_N1 DNAH2 146754 genome.wustl.edu 37 17 7662915 7662915 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020877.2 +1 validated p.G875E 0.938 249 0% 166 38% - - possibly_damaging(0.527) tolerated(1) neutral(0.178) NULL DNAH2 146754 genome.wustl.edu 37 17 7668873 7668873 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020877.2 +1 validated p.F1167 0.070 184 0% 100 16% - - - - - NULL DNAH2 146754 genome.wustl.edu 37 17 7671518 7671518 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020877.2 +1 validated p.K1292Q 0.971 140 0% 110 29.1% - - possibly_damaging(0.822) tolerated(0.38) neutral(0.329) HMMPfam_DHC_N2 DNAH2 146754 genome.wustl.edu 37 17 7678097 7678097 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020877.2 +1 validated p.E1508* 1.000 171 0% 107 36.4% - - - - - HMMPfam_DHC_N2 DNAH2 146754 genome.wustl.edu 37 17 7736718 7736718 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020877.2 +1 validated p.Y4384C 1.000 72 0% 73 41.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynein_heavy CHD3 1107 genome.wustl.edu 37 17 7800528 7800528 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005271.2 +1 reviewed p.P671L 1.000 149 0% 84 26.2% - - benign(0.008) - - NULL CHD3 1107 genome.wustl.edu 37 17 7803698 7803698 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005271.2 +1 reviewed p.L984F 1.000 258 0% 141 36.2% - - probably_damaging(1) - - HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases KCNAB3 9196 genome.wustl.edu 37 17 7830681 7830681 + Missense_Mutation SNP C C T rs184269668 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004732.2 -1 reviewed p.E129K 1.000 390 0% 214 39.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red ALOX12B 242 genome.wustl.edu 37 17 7979598 7979598 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001139.2 -1 reviewed p.Y476S 0.848 141 0% 88 36.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Lipoxygenase,superfamily_Lipoxygenase ALOXE3 59344 genome.wustl.edu 37 17 8006728 8006728 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021628.2 -1 reviewed p.K623N 0.999 493 0% 233 30.5% - - benign(0.004) tolerated(0.14) neutral(0.249) HMMPfam_Lipoxygenase,superfamily_Lipoxygenase ALOXE3 59344 genome.wustl.edu 37 17 8021760 8021760 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000380149 -1 known p.S6F 0.002 22 0% 19 21.1% - - unknown(0) - - NULL PER1 5187 genome.wustl.edu 37 17 8051103 8051103 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002616.2 -1 reviewed p.R426H 1.000 101 0% 63 36.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PAS_3,superfamily_PYP-like sensor domain (PAS domain) SLC25A35 399512 genome.wustl.edu 37 17 8194789 8194789 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_201520.1 -1 provisional p.A152 0.077 67 0% 53 30.2% - - - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr ARHGEF15 22899 genome.wustl.edu 37 17 8218575 8218575 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173728.2 +1 reviewed p.Q414K 1.000 71 0% 41 22% - - benign(0.039) tolerated(0.23) neutral(0.044) superfamily_DH-domain ODF4 146852 genome.wustl.edu 37 17 8249084 8249084 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153007.4 +1 reviewed p.E230* 0.000 268 0% 156 34.6% - - - - - NULL KRBA2 124751 genome.wustl.edu 37 17 8273633 8273633 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_213597.2 -1 provisional p.E100* 0.028 454 0% 253 36% - - - - - NULL NDEL1 81565 genome.wustl.edu 37 17 8363382 8363382 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030808.3 +1 reviewed p.R283Q 1.000 384 0% 179 34.6% - - probably_damaging(0.956) deleterious(0.01) deleterious(0.805) HMMPfam_NUDE_C MYH10 4628 genome.wustl.edu 37 17 8395665 8395665 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005964.1 -1 validated p.R1510* 1.000 163 0% 146 31.5% - - - - - HMMPfam_Myosin_tail_1,superfamily_Prefoldin GLP2R 9340 genome.wustl.edu 37 17 9760787 9760787 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004246.1 +1 reviewed p.S220Y 1.000 364 0% 211 37.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_2 GLP2R 9340 genome.wustl.edu 37 17 9783712 9783712 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004246.1 +1 reviewed p.L388P 0.963 386 0% 240 37.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_2 GAS7 8522 genome.wustl.edu 37 17 9862611 9862611 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003644.2 -1 reviewed p.E5K 1.000 215 0% 112 25% - - benign(0.35) deleterious(0) deleterious(0.555) NULL GAS7 8522 genome.wustl.edu 37 17 9885167 9885167 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_201433.1 -1 reviewed p.G113 1.000 90 0% 47 46.8% - - - - - NULL MYH13 8735 genome.wustl.edu 37 17 10219222 10219222 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003802.2 -1 validated p.Q1287* 1.000 620 0% 358 33.2% - - - - - HMMPfam_Myosin_tail_1,superfamily_Prefoldin MYH13 8735 genome.wustl.edu 37 17 10223478 10223478 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003802.2 -1 validated p.E1114* 1.000 467 0% 227 34.8% - - - - - HMMPfam_Myosin_tail_1 MYH13 8735 genome.wustl.edu 37 17 10261056 10261056 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003802.2 -1 validated p.R245I 1.000 342 0% 132 20.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH8 4626 genome.wustl.edu 37 17 10301910 10301910 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002472.2 -1 reviewed p.C1343 0.995 437 0% 322 35.7% - - - - - HMMPfam_Myosin_tail_1 MYH8 4626 genome.wustl.edu 37 17 10304221 10304221 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002472.2 -1 reviewed p.E1104* 1.000 303 0% 122 16.4% - - - - - HMMPfam_Myosin_tail_1 MYH4 4622 genome.wustl.edu 37 17 10362607 10362607 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017533.2 -1 validated p.F516 0.978 631 0% 379 36.9% - - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH1 4619 genome.wustl.edu 37 17 10404926 10404926 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005963.3 -1 reviewed p.K1111N 1.000 416 0% 261 27.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_tail_1 MYH2 4620 genome.wustl.edu 37 17 10432487 10432487 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001100112.1 -1 reviewed p.E1116* 1.000 344 0% 216 34.3% - - - - - HMMPfam_Myosin_tail_1 MYH2 4620 genome.wustl.edu 37 17 10433173 10433173 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001100112.1 -1 reviewed p.K972N 1.000 1398 0% 839 25.7% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL MYH2 4620 genome.wustl.edu 37 17 10446201 10446201 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001100112.1 -1 reviewed p.E299* 1.000 123 0% 53 17% - - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH3 4621 genome.wustl.edu 37 17 10537376 10537376 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002470.2 -1 reviewed p.D1494Y 1.000 343 0% 151 16.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_tail_1 MYH3 4621 genome.wustl.edu 37 17 10543345 10543345 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002470.2 -1 reviewed p.E884* 1.000 476 0% 253 45.5% - - - - - NULL MYH3 4621 genome.wustl.edu 37 17 10546202 10546202 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002470.2 -1 reviewed p.E508K 1.000 500 0% 357 29.4% - - benign(0.076) deleterious(0.03) neutral(0.370) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 DNAH9 1770 genome.wustl.edu 37 17 11540051 11540051 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001372.3 +1 reviewed p.D579G 1.000 239 0% 104 37.5% - - benign(0.001) tolerated(0.33) neutral(0.024) HMMPfam_DHC_N1 DNAH9 1770 genome.wustl.edu 37 17 11593659 11593659 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001372.3 +1 reviewed p.A1507V 0.959 155 0% 70 40% - - benign(0.095) tolerated(0.13) neutral(0.260) HMMPfam_DHC_N2 DNAH9 1770 genome.wustl.edu 37 17 11833332 11833332 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001372.3 +1 reviewed p.E4009 1.000 162 0% 93 32.3% - - - - - HMMPfam_Dynein_heavy DNAH9 1770 genome.wustl.edu 37 17 11837215 11837215 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001372.3 +1 reviewed p.R4106C 1.000 256 0% 123 22.8% - - possibly_damaging(0.909) deleterious(0) deleterious(0.806) HMMPfam_Dynein_heavy MAP2K4 6416 genome.wustl.edu 37 17 12028639 12028639 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003010.2 +1 reviewed p.R281Q 1.000 378 0.3% 206 37.4% - - probably_damaging(0.983) tolerated(0.59) neutral(0.433) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MAP2K4 6416 genome.wustl.edu 37 17 12043161 12043161 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003010.2 +1 reviewed p.T349M 1.000 375 0% 150 32.7% - - possibly_damaging(0.841) tolerated(0.12) deleterious(0.582) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MYOCD 93649 genome.wustl.edu 37 17 12659733 12659733 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000425538 +1 known p.N687K 0.998 120 0% 63 34.9% - - benign(0.312) tolerated(1) neutral(0.098) NULL ELAC2 60528 genome.wustl.edu 37 17 12901819 12901819 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018127.6 -1 reviewed p.R477I 0.001 272 0% 162 32.1% - - benign(0.055) tolerated(0.18) neutral(0.060) NULL ENSG00000205325 0 genome.wustl.edu 37 17 14673552 14673552 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000379640 -1 known p.K104N 0.000 159 0% 99 36.4% - - unknown(0) - - NULL TEKT3 64518 genome.wustl.edu 37 17 15212124 15212124 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031898.2 -1 reviewed p.E371D 1.000 342 0% 228 36.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tektin TEKT3 64518 genome.wustl.edu 37 17 15231348 15231348 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031898.2 -1 reviewed p.I208 0.273 388 0% 266 28.2% - - - - - HMMPfam_Tektin TEKT3 64518 genome.wustl.edu 37 17 15234496 15234496 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031898.2 -1 reviewed p.R136I 0.963 1003 0% 623 36% - - benign(0.196) deleterious(0.02) neutral(0.402) HMMPfam_Tektin CDRT1 374286 genome.wustl.edu 37 17 15508675 15508675 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006382.3 -1 provisional p.R432Q 1.000 509 0% 292 29.8% - - unknown(0) deleterious(0.01) - superfamily_WD40 repeat-like ZNF286A 57335 genome.wustl.edu 37 17 15620495 15620495 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130842.1 +1 validated p.R486I 1.000 481 0% 269 37.5% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CDRT15P2 644694 genome.wustl.edu 37 17 15668141 15668141 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_932309.3 +1 model p.K17 0.000 127 0% 70 37.1% - - - - - NULL NCOR1 9611 genome.wustl.edu 37 17 15976868 15976868 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006311.2 -1 reviewed p.R1229Q 1.000 334 0% 184 35.3% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL MIR1288 100302124 genome.wustl.edu 37 17 16185356 16185356 + RNA SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000408428 +1 known NULL 0.030 150 0% 88 34.1% - - - - - - UBB 7314 genome.wustl.edu 37 17 16285549 16285549 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018955.2 +1 reviewed p.E110* 1.000 488 0% 273 33.7% - - - - - HMMPfam_ubiquitin,HMMSmart_SM00213,PatternScan_UBIQUITIN_1,superfamily_Ubiquitin-like TRPV2 51393 genome.wustl.edu 37 17 16330086 16330086 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016113.3 +1 reviewed p.A382 0.172 206 0% 101 37.6% - - - - - NULL ZNF287 57336 genome.wustl.edu 37 17 16456559 16456559 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020653.2 -1 validated p.V299 0.000 100 0% 43 30.2% - - - - - NULL ZNF624 57547 genome.wustl.edu 37 17 16526037 16526037 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020787.2 -1 validated p.E721D 1.000 282 0% 209 27.8% - - possibly_damaging(0.804) deleterious(0.05) deleterious(0.648) superfamily_C2H2 and C2HC zinc fingers ZNF624 57547 genome.wustl.edu 37 17 16537200 16537200 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020787.2 -1 validated p.E118* 0.993 370 0% 168 31.5% - - - - - NULL CCDC144A 9720 genome.wustl.edu 37 17 16638044 16638044 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014695.1 +1 provisional p.E820G 0.749 136 0% 38 23.7% - - unknown(0) tolerated(0.11) - NULL CCDC144A 9720 genome.wustl.edu 37 17 16667310 16667310 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014695.1 +1 provisional p.Q1307* 0.000 329 0% 178 33.7% - - - - - NULL MPRIP 23164 genome.wustl.edu 37 17 17041269 17041269 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015134.2 +1 validated p.R259H 1.000 53 0% 35 42.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MPRIP 23164 genome.wustl.edu 37 17 17076099 17076099 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015134.2 +1 validated p.S800L 0.986 57 0% 43 39.5% - - benign(0.196) tolerated(0.34) neutral(0.041) NULL LRRC48 83450 genome.wustl.edu 37 17 17919894 17919894 + Missense_Mutation SNP G G T rs73303861 byCluster;by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130090.1 +1 validated p.R494M 1.000 182 0% 73 54.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DRG2 1819 genome.wustl.edu 37 17 18010542 18010542 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001388.3 +1 reviewed p.I361 0.091 56 0% 36 13.9% - - - - - HMMPfam_TGS MYO15A 51168 genome.wustl.edu 37 17 18025222 18025222 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016239.3 +1 reviewed p.K1036 0.014 132 0% 80 33.8% - - - - - NULL MYO15A 51168 genome.wustl.edu 37 17 18034585 18034585 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016239.3 +1 reviewed p.F1357 0.985 141 0% 70 27.1% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO15A 51168 genome.wustl.edu 37 17 18040945 18040945 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016239.3 +1 reviewed p.N1609 0.671 285 0% 145 32.4% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases FLII 2314 genome.wustl.edu 37 17 18157933 18157933 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002018.2 -1 reviewed p.S159 1.000 128 0% 59 39% - - - - - HMMPfam_LRR_1,superfamily_SSF52058 SMCR8 140775 genome.wustl.edu 37 17 18219626 18219626 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144775.2 +1 validated p.E175K 0.976 121 0.8% 66 21.2% - - benign(0.242) tolerated(0.24) neutral(0.062) NULL SMCR8 140775 genome.wustl.edu 37 17 18226275 18226275 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144775.2 +1 validated p.V902A 1.000 237 0% 133 36.8% - - probably_damaging(0.973) deleterious(0.02) deleterious(0.798) NULL LGALS9C 654346 genome.wustl.edu 37 17 18396067 18396067 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040078.2 +1 validated p.F273S 0.372 417 0% 240 37.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Gal-bind_lectin,HMMSmart_SM00276,superfamily_Concanavalin A-like lectins/glucanases LOC645139 645139 genome.wustl.edu 37 17 18554176 18554176 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_928169.3 +1 model p.D263G 1.000 380 0% 205 34.1% - - - - - HMMPfam_MIF4G,HMMSmart_SM00543,superfamily_ARM repeat ZNF286B 729288 genome.wustl.edu 37 17 18566194 18566194 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145045.1 -1 validated p.D209N 0.698 377 0% 180 35.6% - - - - - NULL ZNF286B 729288 genome.wustl.edu 37 17 18566462 18566462 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145045.1 -1 validated p.Q119 0.459 424 0% 246 39% - - - - - NULL ZNF286B 729288 genome.wustl.edu 37 17 18584120 18584120 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145045.1 -1 validated p.P20 0.987 483 0% 193 33.2% - - - - - NULL FBXW10 10517 genome.wustl.edu 37 17 18675989 18675989 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031456.3 +1 validated p.F757L 0.000 109 0% 44 36.4% - - benign(0) tolerated(1) - NULL FBXW10 10517 genome.wustl.edu 37 17 18682407 18682407 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031456.3 +1 validated p.F984 0.985 209 0% 120 43.3% - - - - - NULL FAM18B1 51030 genome.wustl.edu 37 17 18707518 18707518 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016078.4 +1 predicted p.R177H 1.000 621 0% 373 34.6% - - benign(0.003) deleterious(0) neutral(0.445) NULL SLC5A10 125206 genome.wustl.edu 37 17 18862004 18862004 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152351.3 +1 validated p.R41W 0.980 233 0% 160 35% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL EPN2 22905 genome.wustl.edu 37 17 19186619 19186619 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014964.4 +1 reviewed p.R63W 1.000 193 0% 124 16.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ENTH,superfamily_ENTH/VHS domain,HMMSmart_SM00273 MFAP4 4239 genome.wustl.edu 37 17 19289699 19289699 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002404.1 -1 reviewed p.Y55S 1.000 116 0% 78 37.2% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like RNF112 7732 genome.wustl.edu 37 17 19316976 19316976 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007148.4 +1 reviewed p.T269 0.641 124 0% 71 35.2% - - - - - HMMPfam_GBP,superfamily_SSF52540 SPECC1 92521 genome.wustl.edu 37 17 20108622 20108622 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001033553.1 +1 validated p.T420 0.000 95 0% 56 44.6% - - - - - NULL CCDC144C 348254 genome.wustl.edu 37 17 20254697 20254697 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000444742 +1 known p.R626I 0.002 430 0% 283 29.3% - - - - - NULL CCDC144C 348254 genome.wustl.edu 37 17 20269306 20269306 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000425519 +1 known p.R922I 0.349 134 0% 40 32.5% - - probably_damaging(0.998) tolerated(0.25) deleterious(0.511) NULL USP22 23326 genome.wustl.edu 37 17 20931877 20931877 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015276.1 -1 validated p.A94 0.379 148 0% 88 36.4% - - - - - HMMPfam_zf-UBP WSB1 26118 genome.wustl.edu 37 17 25633863 25633863 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015626.8 +1 reviewed p.F222L 1.000 254 0% 157 36.3% - - benign(0.036) deleterious(0.04) neutral(0.351) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 WSB1 26118 genome.wustl.edu 37 17 25636285 25636285 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015626.8 +1 reviewed p.L291M 1.000 188 0% 102 30.4% - - probably_damaging(0.999) tolerated(0.17) deleterious(0.549) superfamily_WD40 repeat-like LGALS9 3965 genome.wustl.edu 37 17 25958267 25958267 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_024043.1 +1 reviewed NULL 0.000 180 0% 118 42.4% - - - - - - NOS2 4843 genome.wustl.edu 37 17 26101322 26101322 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000625.4 -1 reviewed p.E479D 1.000 230 0% 142 36.6% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_NO_synthase,superfamily_Nitric oxide (NO) synthase oxygenase domain NOS2 4843 genome.wustl.edu 37 17 26107839 26107839 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000625.4 -1 reviewed p.E320K 1.000 83 0% 46 23.9% - - possibly_damaging(0.513) deleterious(0.04) deleterious(0.521) HMMPfam_NO_synthase,superfamily_Nitric oxide (NO) synthase oxygenase domain ENSG00000251558 0 genome.wustl.edu 37 17 26206294 26206294 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000502259 +1 known NULL 0.000 19 0% 21 38.1% - - - - - - NLK 51701 genome.wustl.edu 37 17 26370125 26370125 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016231.4 +1 validated p.A76T 1.000 90 0% 143 42.7% - - benign(0.145) deleterious(0.01) neutral(0.418) NULL NLK 51701 genome.wustl.edu 37 17 26370186 26370186 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016231.4 +1 validated p.S96* 1.000 280 0% 256 37.1% - - - - - NULL TMEM199 147007 genome.wustl.edu 37 17 26687822 26687822 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152464.1 +1 provisional p.F161 0.870 284 0% 215 38.1% - - - - - NULL VTN 7448 genome.wustl.edu 37 17 26696530 26696530 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000638.3 -1 reviewed p.R176Q 1.000 54 0% 41 51.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX SLC13A2 9058 genome.wustl.edu 37 17 26817354 26817354 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000444914 +1 known p.F43 0.000 57 0% 49 32.7% - - - - - NULL UNC119 9094 genome.wustl.edu 37 17 26874734 26874734 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005148.3 -1 reviewed p.E191K 1.000 175 0% 79 24.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GMP_PDE_delta,superfamily_E set domains TLCD1 116238 genome.wustl.edu 37 17 27051724 27051724 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138463.3 -1 validated p.R183H 1.000 215 0% 110 38.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TRAM_LAG1_CLN8,HMMSmart_TLC PIPOX 51268 genome.wustl.edu 37 17 27381634 27381634 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016518.2 +1 validated p.P244 0.019 475 0.4% 316 40.5% - - - - - HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain MYO18A 399687 genome.wustl.edu 37 17 27441106 27441106 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_078471.3 -1 validated p.E841K 1.000 147 0% 87 43.7% - - possibly_damaging(0.911) tolerated(0.24) neutral(0.400) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases TAOK1 57551 genome.wustl.edu 37 17 27857552 27857552 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020791.1 +1 validated p.R759Q 1.000 207 0% 72 27.8% - - possibly_damaging(0.938) tolerated(0.43) neutral(0.397) superfamily_Protein kinase-like (PK-like) GIT1 28964 genome.wustl.edu 37 17 27905324 27905324 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001085454.1 -1 validated p.N301K 1.000 336 0% 183 38.3% - - possibly_damaging(0.49) deleterious(0.02) deleterious(0.546) HMMPfam_GIT_SHD,HMMSmart_GIT ANKRD13B 124930 genome.wustl.edu 37 17 27934791 27934791 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152345.4 +1 validated p.R49Q 1.000 20 0% 14 35.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat EFCAB5 374786 genome.wustl.edu 37 17 28323342 28323342 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198529.3 +1 validated p.L313I 0.997 243 0% 145 37.9% - - possibly_damaging(0.569) deleterious(0) deleterious(0.639) superfamily_EF-hand EFCAB5 374786 genome.wustl.edu 37 17 28380998 28380998 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198529.3 +1 validated p.D676Y 0.000 210 0% 85 42.4% - - possibly_damaging(0.523) tolerated(0.19) neutral(0.226) superfamily_EF-hand NSRP1 84081 genome.wustl.edu 37 17 28507952 28507952 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032141.2 +1 validated p.D179Y 1.000 415 0% 198 36.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2040 TMIGD1 388364 genome.wustl.edu 37 17 28645840 28645840 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_206832.1 -1 provisional p.K244N 0.019 453 0% 212 34.4% - - benign(0.001) tolerated(0.28) neutral(0.032) NULL ATAD5 79915 genome.wustl.edu 37 17 29162381 29162381 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024857.3 +1 provisional p.D428Y 1.000 109 0% 50 38% - - possibly_damaging(0.948) deleterious(0) deleterious(0.836) NULL TEFM 79736 genome.wustl.edu 37 17 29231479 29231479 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024683.3 -1 validated p.R34W 0.426 116 0% 63 33.3% - - probably_damaging(0.984) deleterious(0.01) deleterious(0.836) NULL LOC646021 646021 genome.wustl.edu 37 17 29349051 29349051 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_933339.3 +1 model p.R277I 1.000 70 0% 29 17.2% - - - - - NULL ENSG00000250288 0 genome.wustl.edu 37 17 29351278 29351278 + RNA SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000504550 +1 novel NULL 0.492 24 0% 14 28.6% - - - - - - NF1 4763 genome.wustl.edu 37 17 29483109 29483109 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042492.2 +1 reviewed p.G57S 1.000 303 0% 131 39.7% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL EVI2A 2123 genome.wustl.edu 37 17 29646015 29646015 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001003927.2 -1 validated p.E29G 0.330 350 0% 157 31.2% - - benign(0.001) tolerated(0.27) neutral(0.034) HMMPfam_EVI2A NF1 4763 genome.wustl.edu 37 17 29664521 29664521 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042492.2 +1 reviewed p.S2188F 1.000 431 0% 217 26.7% - - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) NULL C17orf75 64149 genome.wustl.edu 37 17 30662353 30662353 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022344.2 -1 validated p.L220M 1.000 247 0% 161 31.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C17orf75 64149 genome.wustl.edu 37 17 30665290 30665290 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022344.2 -1 validated p.S143Y 0.797 300 0% 144 41% - - probably_damaging(0.984) deleterious(0.03) deleterious(0.795) NULL PSMD11 5717 genome.wustl.edu 37 17 30806902 30806902 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002815.2 +1 reviewed p.K358E 1.000 425 0% 270 32.2% - - benign(0) tolerated(0.91) - "HMMPfam_PCI,HMMSmart_SM00088,superfamily_""Winged helix"" DNA-binding domain" TMEM98 26022 genome.wustl.edu 37 17 31260313 31260313 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001033504.1 +1 validated p.E85K 1.000 230 0% 142 12% - - possibly_damaging(0.887) tolerated(0.16) neutral(0.406) NULL TMEM98 26022 genome.wustl.edu 37 17 31263370 31263370 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001033504.1 +1 validated p.E106 1.000 161 0% 152 38.8% - - - - - NULL SPACA3 124912 genome.wustl.edu 37 17 31324751 31324751 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173847.3 +1 provisional p.C201 1.000 350 0% 165 37.6% - - - - - HMMPfam_Lys,HMMSmart_SM00263,superfamily_Lysozyme-like ASIC2 40 genome.wustl.edu 37 17 31355330 31355330 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_183377.1 -1 reviewed p.T356 1.000 144 0% 83 44.6% - - - - - HMMPfam_ASC,PatternScan_ASC ENSG00000226049 0 genome.wustl.edu 37 17 32366765 32366765 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000430493 -1 known p.G42R 0.762 293 0% 145 34.5% - - - - - NULL UNC45B 146862 genome.wustl.edu 37 17 33481676 33481676 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173167.2 +1 validated p.L185 1.000 182 0% 112 42.9% - - - - - HMMSmart_SM00185,superfamily_ARM repeat UNC45B 146862 genome.wustl.edu 37 17 33513534 33513534 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173167.2 +1 validated p.L918I 1.000 367 0% 175 33.7% - - benign(0.25) deleterious(0.01) neutral(0.431) superfamily_ARM repeat SLFN5 162394 genome.wustl.edu 37 17 33591481 33591481 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144975.3 +1 validated p.S473Y 0.004 339 0% 169 29.6% - - benign(0.354) deleterious(0) deleterious(0.556) NULL SLFN5 162394 genome.wustl.edu 37 17 33592266 33592266 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144975.3 +1 validated p.L679I 1.000 397 0% 244 30.7% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_P-loop containing nucleoside triphosphate hydrolases SLFN11 91607 genome.wustl.edu 37 17 33680971 33680971 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001104587.1 -1 validated p.R436W 0.000 213 0.5% 129 24.8% - - possibly_damaging(0.946) deleterious(0.02) deleterious(0.773) NULL SLFN12L 100506736 genome.wustl.edu 37 17 33802073 33802073 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145027.1 -1 validated p.A575T 0.000 683 0% 334 15% - - benign(0) tolerated(0.73) neutral(0.002) NULL SLFN14 342618 genome.wustl.edu 37 17 33879838 33879838 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001129820.1 -1 provisional p.K605N 0.994 196 0.5% 91 30.8% - - possibly_damaging(0.602) deleterious(0) deleterious(0.653) NULL AP2B1 163 genome.wustl.edu 37 17 33925251 33925251 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001030006.1 +1 reviewed p.E14* 1.000 275 0% 121 35.5% - - - - - HMMPfam_Adaptin_N,superfamily_ARM repeat AP2B1 163 genome.wustl.edu 37 17 33977553 33977553 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001030006.1 +1 reviewed p.S514Y 1.000 349 0% 191 35.1% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Adaptin_N,superfamily_ARM repeat GAS2L2 246176 genome.wustl.edu 37 17 34071964 34071964 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139285.2 -1 validated p.P851L 0.000 260 0% 141 31.9% - - unknown(0) deleterious(0.01) - NULL GAS2L2 246176 genome.wustl.edu 37 17 34072237 34072237 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139285.2 -1 validated p.R760I 1.000 123 0% 106 28.3% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL GAS2L2 246176 genome.wustl.edu 37 17 34072796 34072796 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139285.2 -1 validated p.E574K 0.000 48 0% 47 36.2% - - benign(0.005) deleterious(0.03) neutral(0.364) NULL MMP28 79148 genome.wustl.edu 37 17 34105998 34105998 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001032278.1 -1 reviewed p.C91 1.000 141 0% 84 42.9% - - - - - superfamily_PGBD_like MYO19 80179 genome.wustl.edu 37 17 34852154 34852154 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025109.5 -1 validated p.L752 0.995 291 0% 150 38.7% - - - - - NULL MYO19 80179 genome.wustl.edu 37 17 34867240 34867240 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025109.5 -1 validated p.E317* 0.999 150 0% 129 42.6% - - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO19 80179 genome.wustl.edu 37 17 34871759 34871759 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025109.5 -1 validated p.K163N 1.000 192 0% 99 26.3% - - benign(0.253) tolerated(0.51) neutral(0.035) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 PIGW 284098 genome.wustl.edu 37 17 34893631 34893631 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178517.3 +1 validated p.E227 1.000 309 0% 202 13.9% - - - - - NULL GGNBP2 79893 genome.wustl.edu 37 17 34935677 34935677 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024835.2 +1 validated p.R283Q 0.998 204 0% 114 30.7% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL AATF 26574 genome.wustl.edu 37 17 35378312 35378312 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012138.3 +1 reviewed p.R516W 1.000 237 0% 90 30% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TRAUB ACACA 31 genome.wustl.edu 37 17 35453960 35453960 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198834.1 -1 reviewed p.W2288G 1.000 482 0% 244 32% - - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL ACACA 31 genome.wustl.edu 37 17 35518820 35518820 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198834.1 -1 reviewed p.L1742I 1.000 254 0% 159 38.4% - - benign(0.049) deleterious(0.03) neutral(0.367) HMMPfam_Carboxyl_trans,superfamily_SSF52096 ACACA 31 genome.wustl.edu 37 17 35597463 35597463 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198834.1 -1 reviewed p.R1017Q 0.997 138 0% 60 36.7% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_ACC_central ACACA 31 genome.wustl.edu 37 17 35614746 35614746 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198834.1 -1 reviewed p.R569C 1.000 350 0% 198 30.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Biotin_carb_C,superfamily_Rudmnt_hyb_motif TADA2A 6871 genome.wustl.edu 37 17 35787058 35787058 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001488.3 +1 reviewed p.R48* 0.998 337 0% 163 28.8% - - - - - NULL TADA2A 6871 genome.wustl.edu 37 17 35797849 35797849 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001488.3 +1 reviewed p.F68C 1.000 580 0% 301 42.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Homeodomain-like TADA2A 6871 genome.wustl.edu 37 17 35802742 35802742 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001488.3 +1 reviewed p.D174Y 1.000 336 0% 146 30.8% - - possibly_damaging(0.933) deleterious(0) deleterious(0.824) NULL ENSG00000174093 0 genome.wustl.edu 37 17 36352450 36352450 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000312412 -1 known p.R446Q 1.000 203 0% 89 18% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) "superfamily_Metalloproteases (""zincins"") catalytic domain" ENSG00000174093 0 genome.wustl.edu 37 17 36365127 36365127 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000312412 -1 known p.M156I 1.000 436 0% 165 16.4% - - possibly_damaging(0.61) deleterious(0) deleterious(0.656) HMMPfam_Peptidase_M1,superfamily_Leukotriene A4 hydrolase N-terminal domain SOCS7 30837 genome.wustl.edu 37 17 36508867 36508867 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014598.1 +1 validated p.S247N 1.000 12 0% 11 36.4% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL SRCIN1 80725 genome.wustl.edu 37 17 36709077 36709077 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025248.2 -1 validated p.S739L 1.000 127 0% 81 27.2% - - probably_damaging(0.99) tolerated(0.64) neutral(0.445) NULL PIP4K2B 8396 genome.wustl.edu 37 17 36955606 36955606 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003559.4 -1 reviewed p.K24N 1.000 88 0% 107 25.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CWC25 54883 genome.wustl.edu 37 17 36958363 36958363 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017748.3 -1 provisional p.K420N 1.000 191 0% 123 26% - - possibly_damaging(0.496) deleterious(0.01) deleterious(0.571) NULL CWC25 54883 genome.wustl.edu 37 17 36981424 36981424 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017748.3 -1 provisional p.D5Y 1.000 336 0% 168 44% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FBXO47 494188 genome.wustl.edu 37 17 37118189 37118189 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008777.2 -1 validated p.N98S 1.000 512 0% 258 12.8% - - benign(0.013) tolerated(0.81) neutral(0.001) NULL ARL5C 390790 genome.wustl.edu 37 17 37321357 37321357 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143968.1 -1 provisional p.G28* 0.916 239 0.4% 134 44% - - - - - HMMPfam_Arf,superfamily_SSF52540 CACNB1 782 genome.wustl.edu 37 17 37351184 37351184 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000723.3 -1 reviewed p.D42Y 0.999 152 0% 79 35.4% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RPL19 6143 genome.wustl.edu 37 17 37358641 37358641 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000981.3 +1 reviewed p.R62* 1.000 64 0% 45 13.3% - - - - - HMMPfam_Ribosomal_L19e,superfamily_Ribosomal protein L19 (L19e) CDK12 51755 genome.wustl.edu 37 17 37627509 37627509 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016507.2 +1 validated p.S475Y 1.000 246 0% 95 26.3% - - unknown(0) deleterious(0.03) - NULL NEUROD2 4761 genome.wustl.edu 37 17 37762587 37762587 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006160.3 -1 reviewed p.E89G 1.000 73 0% 63 49.2% - - benign(0.35) tolerated(0.12) neutral(0.371) NULL STARD3 10948 genome.wustl.edu 37 17 37818510 37818510 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006804.3 +1 reviewed p.E382D 1.000 132 0% 85 52.9% - - probably_damaging(0.967) deleterious(0.02) deleterious(0.792) HMMPfam_START,HMMSmart_START,superfamily_SSF55961 PNMT 5409 genome.wustl.edu 37 17 37826452 37826452 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002686.3 +1 reviewed p.S220L 0.997 27 0% 35 40% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_NNMT_PNMT_TEMT,superfamily_SSF53335 ERBB2 2064 genome.wustl.edu 37 17 37880207 37880207 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004448.2 +1 reviewed p.A751T 1.000 353 0% 162 28.4% - - probably_damaging(0.964) deleterious(0) deleterious(0.851) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP ERBB2 2064 genome.wustl.edu 37 17 37881400 37881400 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004448.2 +1 reviewed p.F864 0.548 186 0% 108 42.6% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) PSMD3 5709 genome.wustl.edu 37 17 38146409 38146409 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002809.2 +1 reviewed p.R314C 1.000 105 0% 75 36% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00753,superfamily_TPR-like MSL1 339287 genome.wustl.edu 37 17 38285834 38285834 + Silent SNP G G A rs141878833 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012241.1 +1 validated p.P180 0.995 33 0% 15 26.7% - - - - - NULL MSL1 339287 genome.wustl.edu 37 17 38289317 38289317 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012241.1 +1 validated p.S241L 0.984 383 0% 181 30.9% - - possibly_damaging(0.85) tolerated(0.78) neutral(0.328) NULL CASC3 22794 genome.wustl.edu 37 17 38319915 38319915 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007359.4 +1 reviewed p.R323C 0.995 401 0% 305 31.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CDC6 990 genome.wustl.edu 37 17 38457265 38457265 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001254.3 +1 reviewed p.E479* 1.000 212 0% 96 31.2% - - - - - HMMPfam_Cdc6_C,superfamily_SSF46785 TOP2A 7153 genome.wustl.edu 37 17 38554818 38554818 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001067.2 -1 reviewed p.E1177K 1.000 212 0% 128 39.1% - - benign(0.024) tolerated(0.35) neutral(0.022) HMMPfam_DNA_topoisoIV,superfamily_Type II DNA topoisomerase TNS4 84951 genome.wustl.edu 37 17 38638394 38638394 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032865.5 -1 validated p.T553 0.793 109 0% 69 34.8% - - - - - superfamily_SSF55550 SMARCE1 6605 genome.wustl.edu 37 17 38792252 38792252 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003079.4 -1 reviewed p.R158* 1.000 556 0% 248 38.7% - - - - - NULL KRT26 353288 genome.wustl.edu 37 17 38926062 38926062 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181539.4 -1 reviewed p.E305K 0.994 685 0.1% 365 19.5% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Prefoldin,HMMPfam_Filament KRT26 353288 genome.wustl.edu 37 17 38926570 38926570 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181539.4 -1 reviewed p.D206N 0.903 271 0% 183 41.5% - - probably_damaging(0.986) deleterious(0) deleterious(0.879) superfamily_Prefoldin,HMMPfam_Filament KRT12 3859 genome.wustl.edu 37 17 39023000 39023000 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000223.3 -1 reviewed p.E147* 1.000 129 0% 56 42.9% - - - - - HMMPfam_Filament KRT23 25984 genome.wustl.edu 37 17 39092801 39092801 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015515.3 -1 reviewed p.G19* 0.047 48 0% 28 39.3% - - - - - NULL KRTAP4-6 81871 genome.wustl.edu 37 17 39296274 39296274 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000345847 -1 known p.E156* 0.000 191 0% 159 18.9% - - - - - HMMPfam_Keratin_B2 KRTAP9-8 83901 genome.wustl.edu 37 17 39394611 39394611 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031963.2 +1 reviewed p.R103I 0.400 365 0% 289 29.1% - - probably_damaging(0.994) tolerated(0.07) deleterious(0.771) HMMPfam_Keratin_B2 KRTAP9-6 100507608 genome.wustl.edu 37 17 39421752 39421752 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000391355 +1 known p.S41 0.060 271 0% 179 40.8% - - - - - HMMPfam_Keratin_B2 KRT34 3885 genome.wustl.edu 37 17 39535324 39535324 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021013.3 -1 reviewed p.E369D 0.919 292 0% 242 38.4% - - benign(0.016) tolerated(0.2) neutral(0.050) HMMPfam_Filament KRT32 3882 genome.wustl.edu 37 17 39622408 39622408 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002278.3 -1 reviewed p.E163D 0.995 298 0% 200 38.5% - - benign(0.048) tolerated(0.4) neutral(0.019) HMMPfam_Filament KRT35 3886 genome.wustl.edu 37 17 39635105 39635105 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002280.4 -1 reviewed p.E285G 1.000 123 0% 75 33.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Prefoldin,HMMPfam_Filament KRT15 3866 genome.wustl.edu 37 17 39670283 39670283 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002275.3 -1 reviewed p.E455* 0.993 189 0% 134 28.4% - - - - - NULL GAST 2520 genome.wustl.edu 37 17 39872118 39872118 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000805.3 +1 reviewed p.E100D 0.003 110 0.9% 86 37.2% - - benign(0.105) tolerated(0.89) neutral(0.008) HMMPfam_Gastrin,HMMSmart_GASTRIN FKBP10 60681 genome.wustl.edu 37 17 39977251 39977251 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021939.3 +1 reviewed p.E437K 0.897 48 0% 21 42.9% - - benign(0.382) tolerated(1) neutral(0.122) HMMPfam_FKBP_C,superfamily_SSF54534 ACLY 47 genome.wustl.edu 37 17 40058048 40058048 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001096.2 -1 reviewed p.R362* 1.000 161 0% 107 39.3% - - - - - superfamily_CoA_ligase KCNH4 23415 genome.wustl.edu 37 17 40327755 40327755 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012285.2 -1 reviewed e6-1 1.000 313 0% 115 14.8% - - - - - - KCNH4 23415 genome.wustl.edu 37 17 40330471 40330471 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012285.2 -1 reviewed p.D112G 1.000 101 0% 49 36.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_PAC,HMMPfam_PAS,superfamily_SSF55785 STAT3 6774 genome.wustl.edu 37 17 40498635 40498635 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139276.2 -1 reviewed p.S75 0.991 243 0% 124 26.6% - - - - - HMMPfam_STAT_int,superfamily_Transcription factor STAT-4 N-domain EZH1 2145 genome.wustl.edu 37 17 40874816 40874816 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001991.3 -1 validated p.E162* 1.000 500 0% 324 32.1% - - - - - HMMSmart_SM00717 WNK4 65266 genome.wustl.edu 37 17 40948574 40948574 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032387.4 +1 reviewed p.F1236S 1.000 188 0% 102 39.2% - - probably_damaging(0.962) deleterious(0) deleterious(0.850) NULL AOC2 314 genome.wustl.edu 37 17 41002212 41002212 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_009590.2 +1 reviewed p.F706L 1.000 320 0% 188 27.7% - - probably_damaging(0.991) tolerated(0.13) deleterious(0.697) HMMPfam_Cu_amine_oxid,superfamily_Amine oxidase catalytic domain AARSD1 80755 genome.wustl.edu 37 17 41122352 41122352 + Nonsense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000424284 -1 known p.R101* 0.525 294 0% 164 36.6% - - benign(0.256) deleterious(0.01) neutral(0.432) NULL ETV4 2118 genome.wustl.edu 37 17 41610695 41610695 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079675.1 -1 validated p.Q135 0.982 70 0% 33 42.4% - - - - - HMMPfam_ETS_PEA3_N HDAC5 10014 genome.wustl.edu 37 17 42156172 42156172 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001015053.1 -1 reviewed p.E1053K 1.000 213 0% 162 30.9% - - benign(0.042) tolerated(0.46) neutral(0.015) superfamily_Arginase/deacetylase HDAC5 10014 genome.wustl.edu 37 17 42168844 42168844 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001015053.1 -1 reviewed p.S395L 0.935 64 0% 26 53.8% - - benign(0.202) tolerated(0.06) neutral(0.342) NULL ATXN7L3 56970 genome.wustl.edu 37 17 42272138 42272138 + Silent SNP C C T rs181092765 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020218.1 -1 validated p.S252 0.514 61 0% 41 41.5% - - - - - NULL UBTF 7343 genome.wustl.edu 37 17 42286768 42286768 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014233.2 -1 validated p.A619 0.000 209 0% 164 29.3% - - - - - HMMSmart_SM00398,superfamily_HMG-box UBTF 7343 genome.wustl.edu 37 17 42290609 42290609 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014233.2 -1 validated p.F172 1.000 183 0% 133 36.8% - - - - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box UBTF 7343 genome.wustl.edu 37 17 42293103 42293103 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014233.2 -1 validated p.A131 0.840 597 0% 369 35% - - - - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box SLC4A1 6521 genome.wustl.edu 37 17 42332629 42332629 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000342.3 -1 reviewed p.I612 1.000 117 0% 46 34.8% - - - - - HMMPfam_HCO3_cotransp RUNDC3A 10900 genome.wustl.edu 37 17 42392345 42392345 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144825.1 +1 validated p.I199 0.998 199 0% 93 30.1% - - - - - NULL ITGA2B 3674 genome.wustl.edu 37 17 42461928 42461928 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000419.3 -1 reviewed p.F275 1.000 97 0% 68 38.2% - - - - - HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain FZD2 2535 genome.wustl.edu 37 17 42636026 42636026 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001466.2 +1 reviewed p.K324Q 1.000 107 0% 110 34.5% - - benign(0.103) tolerated(0.46) neutral(0.020) HMMPfam_Frizzled C17orf104 284071 genome.wustl.edu 37 17 42734564 42734564 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145080.2 +1 validated p.T47A 0.013 83 0% 67 34.3% - - benign(0.141) tolerated(0.06) neutral(0.335) NULL C17orf104 284071 genome.wustl.edu 37 17 42750875 42750875 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000409122 +1 known p.R867W 1.000 243 0% 171 36.3% - - probably_damaging(0.956) deleterious(0) deleterious(0.844) NULL DBF4B 80174 genome.wustl.edu 37 17 42818756 42818756 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145663.1 +1 validated p.L256I 1.000 323 0.3% 158 26.6% - - possibly_damaging(0.814) tolerated(0.44) neutral(0.320) NULL DBF4B 80174 genome.wustl.edu 37 17 42824544 42824544 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145663.1 +1 validated p.F308 0.082 159 0% 103 37.9% - - - - - HMMPfam_zf-DBF,HMMSmart_SM00586 ADAM11 4185 genome.wustl.edu 37 17 42848999 42848999 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002390.4 +1 reviewed p.P143 0.000 48 0% 54 31.5% - - - - - HMMPfam_Pep_M12B_propep GFAP 2670 genome.wustl.edu 37 17 42987857 42987857 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000376990 -1 known p.V433M 0.000 89 0% 60 25% - - - - - NULL KIF18B 146909 genome.wustl.edu 37 17 43005412 43005412 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080443.1 -1 provisional p.D756G 0.622 77 0% 54 48.1% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL FMNL1 752 genome.wustl.edu 37 17 43323043 43323043 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005892.3 +1 reviewed p.K979N 1.000 155 0% 114 13.2% - - unknown(0) deleterious(0) - HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) MAP3K14 9020 genome.wustl.edu 37 17 43350919 43350919 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003954.2 -1 reviewed p.A536V 0.998 53 0% 46 17.4% - - - - - NULL ARHGAP27 201176 genome.wustl.edu 37 17 43473941 43473941 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199282.2 -1 validated p.F354 1.000 23 0% 26 53.8% - - - - - superfamily_GTPase activation domain GAP PLEKHM1 9842 genome.wustl.edu 37 17 43535707 43535707 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014798.2 -1 reviewed p.G469 0.001 175 0% 78 25.6% - - - - - NULL ENSG00000131484 0 genome.wustl.edu 37 17 43580854 43580854 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000253803 +1 known p.S49R 0.000 79 0% 66 19.7% - - possibly_damaging(0.811) deleterious(0) deleterious(0.750) NULL SPPL2C 162540 genome.wustl.edu 37 17 43923654 43923654 + Missense_Mutation SNP G G A rs12185233 byCluster;byFrequency TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175882.2 +1 validated p.R461H 1.000 296 0% 181 35.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00730,HMMPfam_Peptidase_A22B WNT3 7473 genome.wustl.edu 37 17 44846130 44846130 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030753.3 -1 reviewed p.C208 1.000 97 0% 73 37% - - - - - HMMPfam_wnt,HMMSmart_WNT1,PatternScan_WNT1 LOC644397 644397 genome.wustl.edu 37 17 45102056 45102056 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_042323.2 +1 model NULL 0.995 422 0.2% 184 28.8% - - unknown(0) tolerated(0.34) - - C17orf57 124989 genome.wustl.edu 37 17 45425281 45425281 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152347.3 +1 provisional p.E209* 0.988 257 0% 125 30.4% - - - - - superfamily_EF-hand C17orf57 124989 genome.wustl.edu 37 17 45481359 45481359 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152347.3 +1 provisional p.E711D 0.961 243 0.4% 85 35.3% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) superfamily_EF-hand NPEPPS 9520 genome.wustl.edu 37 17 45689927 45689927 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006310.3 +1 reviewed p.V733M 1.000 241 0% 92 30.4% - - possibly_damaging(0.903) tolerated(0.12) deleterious(0.619) NULL KPNB1 3837 genome.wustl.edu 37 17 45757974 45757974 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000290158 +1 known p.K857Q 1.000 391 0% 192 38.5% - - possibly_damaging(0.91) deleterious(0.03) deleterious(0.727) superfamily_ARM repeat OSBPL7 114881 genome.wustl.edu 37 17 45896422 45896422 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145798.2 -1 reviewed p.S100L 0.989 339 0.3% 273 14.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 PRR15L 79170 genome.wustl.edu 37 17 46030430 46030430 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024320.2 -1 provisional p.K57N 1.000 558 0% 323 37.2% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL NFE2L1 4779 genome.wustl.edu 37 17 46136822 46136822 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003204.2 +1 validated p.K713T 1.000 126 0% 80 35% - - possibly_damaging(0.845) deleterious(0.01) deleterious(0.730) HMMSmart_SM00338 SNF8 11267 genome.wustl.edu 37 17 47022058 47022058 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007241.2 -1 provisional p.K13N 1.000 88 0% 57 43.9% - - probably_damaging(0.999) tolerated(0.11) deleterious(0.762) HMMPfam_EAP30 GIP 2695 genome.wustl.edu 37 17 47041683 47041683 + Silent SNP C C T rs139574667 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004123.2 -1 reviewed p.G82 1.000 306 0% 202 34.7% - - - - - NULL GNGT2 2793 genome.wustl.edu 37 17 47284724 47284724 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031498.2 -1 reviewed p.E21* 1.000 359 0% 255 31.4% - - - - - HMMPfam_G-gamma,HMMSmart_SM00224,superfamily_Transducin (heterotrimeric G protein) gamma chain PHB 5245 genome.wustl.edu 37 17 47486756 47486756 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002634.2 -1 reviewed p.I110 0.973 252 0% 171 42.1% - - - - - HMMPfam_Band_7,HMMSmart_SM00244 LOC100131693 100131693 genome.wustl.edu 37 17 47502121 47502121 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001726582.1 -1 model p.T55N 1.000 446 0.2% 243 37.4% - - - - - HMMPfam_IF4E,superfamily_Translation initiation factor eIF4e FAM117A 81558 genome.wustl.edu 37 17 47810066 47810066 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030802.3 -1 validated p.S71 0.233 164 0% 123 43.9% - - - - - NULL DLX3 1747 genome.wustl.edu 37 17 48069190 48069190 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005220.2 -1 reviewed p.K185N 1.000 354 0% 200 32.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 DLX3 1747 genome.wustl.edu 37 17 48070875 48070875 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005220.2 -1 reviewed p.I135 1.000 99 0% 67 31.3% - - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like COL1A1 1277 genome.wustl.edu 37 17 48264142 48264142 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000088.3 -1 reviewed p.R1225C 1.000 114 0% 121 44.6% - - unknown(0) deleterious(0.01) - NULL LOC100288444 100288444 genome.wustl.edu 37 17 48431347 48431347 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343567.1 -1 model p.D64N 0.908 24 0.000 8 0.500 - - - - - NULL ACSF2 80221 genome.wustl.edu 37 17 48539855 48539855 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025149.4 +1 validated p.A234V 1.000 98 0% 61 39.3% - - possibly_damaging(0.44) tolerated(0.09) neutral(0.440) HMMPfam_AMP-binding,superfamily_SSF56801 CACNA1G 8913 genome.wustl.edu 37 17 48681624 48681624 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018896.3 +1 validated p.F1426 0.997 500 0% 279 36.2% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1G 8913 genome.wustl.edu 37 17 48684317 48684317 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018896.3 +1 validated p.Y1493 0.472 584 0% 281 37.7% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SPAG9 9043 genome.wustl.edu 37 17 49079095 49079095 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130528.2 -1 reviewed p.R530* 1.000 327 0% 198 29.3% - - - - - NULL MMD 23531 genome.wustl.edu 37 17 53478886 53478886 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012329.2 -1 reviewed p.E154* 1.000 343 0% 119 42% - - - - - HMMPfam_HlyIII ANKFN1 162282 genome.wustl.edu 37 17 54534657 54534657 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153228.2 +1 validated p.N452 1.000 167 0% 90 37.8% - - - - - NULL ANKFN1 162282 genome.wustl.edu 37 17 54543716 54543716 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153228.2 +1 validated e14-1 1.000 251 0% 156 29.5% - - - - - - DGKE 8526 genome.wustl.edu 37 17 54940083 54940083 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003647.2 +1 reviewed p.F545L 1.000 194 0% 99 34.3% - - benign(0.011) tolerated(1) neutral(0.001) NULL COIL 8161 genome.wustl.edu 37 17 55027491 55027491 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004645.2 -1 reviewed p.G371D 0.072 263 0.4% 112 20.5% - - benign(0) tolerated(1) - NULL AKAP1 8165 genome.wustl.edu 37 17 55187508 55187508 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003488.3 +1 reviewed p.E613K 1.000 122 0% 92 39.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) AKAP1 8165 genome.wustl.edu 37 17 55189873 55189873 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003488.3 +1 reviewed p.K666R 1.000 171 0% 111 36.9% - - possibly_damaging(0.461) deleterious(0.04) deleterious(0.500) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) AKAP1 8165 genome.wustl.edu 37 17 55189950 55189950 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003488.3 +1 reviewed p.A692T 0.999 157 0% 113 45.1% - - benign(0.012) tolerated(0.4) neutral(0.017) NULL SRSF1 6426 genome.wustl.edu 37 17 56083261 56083261 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006924.4 -1 reviewed p.D151 1.000 251 0% 106 34% - - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD DYNLL2 140735 genome.wustl.edu 37 17 56166575 56166575 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080677.2 +1 validated p.E69K 1.000 381 0% 216 36.1% - - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMPfam_Dynein_light,superfamily_DLC,PatternScan_DYNEIN_LIGHT_1 OR4D1 26689 genome.wustl.edu 37 17 56232586 56232586 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012374.1 +1 provisional p.Q24H 0.001 176 0% 101 42.6% - - benign(0.02) deleterious(0.01) neutral(0.407) superfamily_SSF81321 BZRAP1 9256 genome.wustl.edu 37 17 56383751 56383751 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004758.2 -1 validated p.T1726A 0.001 158 0% 120 33.3% - - benign(0.005) tolerated(0.31) neutral(0.027) NULL BZRAP1 9256 genome.wustl.edu 37 17 56386510 56386510 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004758.2 -1 validated p.R1375* 0.001 76 0% 69 34.8% - - - - - NULL SEPT4 5414 genome.wustl.edu 37 17 56598470 56598470 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004574.2 -1 reviewed p.R389H 1.000 201 0% 134 36.6% - - probably_damaging(0.993) deleterious(0.02) deleterious(0.833) HMMPfam_Septin ENSG00000227324 0 genome.wustl.edu 37 17 56738339 56738339 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000453538 -1 known p.E208* 1.000 443 0% 263 27.4% - - - - - HMMPfam_TAP42 TRIM37 4591 genome.wustl.edu 37 17 57148209 57148209 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005207.2 -1 reviewed p.T262A 1.000 177 0% 83 34.9% - - benign(0.073) tolerated(0.23) neutral(0.046) NULL TRIM37 4591 genome.wustl.edu 37 17 57161421 57161421 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005207.2 -1 reviewed p.V104A 0.999 390 0% 190 41.1% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_RING/U-box GDPD1 284161 genome.wustl.edu 37 17 57350186 57350186 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182569.3 +1 validated p.R271* 0.929 526 0% 297 32% - - - - - HMMPfam_GDPD,superfamily_PLC-like phosphodiesterases CLTC 1213 genome.wustl.edu 37 17 57738814 57738814 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004859.3 +1 reviewed p.R393H 1.000 204 0% 110 30.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat CLTC 1213 genome.wustl.edu 37 17 57754428 57754428 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004859.3 +1 reviewed p.R892I 1.000 226 0% 123 30.1% - - benign(0.234) deleterious(0.03) neutral(0.388) HMMPfam_Clathrin,HMMSmart_SM00299,superfamily_ARM repeat RNFT1 51136 genome.wustl.edu 37 17 58035798 58035798 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016125.3 -1 validated p.F234I 1.000 149 0% 62 33.9% - - benign(0.087) tolerated(0.68) neutral(0.009) NULL ENSG00000238283 0 genome.wustl.edu 37 17 58088004 58088004 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000407042 -1 known p.G280R 1.000 338 0% 219 23.3% - - - - - HMMPfam_TBC HEATR6 63897 genome.wustl.edu 37 17 58120963 58120963 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022070.4 -1 validated p.S1169 0.017 241 0% 160 35.6% - - - - - NULL HEATR6 63897 genome.wustl.edu 37 17 58148161 58148161 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022070.4 -1 validated p.Q236L 1.000 407 0% 228 13.6% - - unknown(0) tolerated(0.17) - NULL USP32 84669 genome.wustl.edu 37 17 58283007 58283007 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032582.3 -1 validated p.S1017L 0.999 426 0% 223 35% - - benign(0) tolerated(0.12) neutral(0.261) HMMPfam_UCH,superfamily_SSF54001 USP32 84669 genome.wustl.edu 37 17 58289423 58289423 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032582.3 -1 validated p.S714Y 1.000 410 0% 179 32.4% - - benign(0.085) tolerated(0.58) neutral(0.011) NULL USP32 84669 genome.wustl.edu 37 17 58289457 58289457 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032582.3 -1 validated p.R703C 1.000 423 0% 185 34.1% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL C17orf64 124773 genome.wustl.edu 37 17 58503528 58503528 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181707.2 +1 validated p.E54* 1.000 251 0% 161 32.3% - - - - - NULL TBX2 6909 genome.wustl.edu 37 17 59485435 59485435 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005994.3 +1 validated p.F569 1.000 70 0% 60 15% - - - - - NULL TBX4 9496 genome.wustl.edu 37 17 59557291 59557291 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018488.2 +1 reviewed p.G251D 1.000 132 0% 95 45.3% - - probably_damaging(1) tolerated(0.43) deleterious(0.513) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd TBX4 9496 genome.wustl.edu 37 17 59560437 59560437 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018488.2 +1 reviewed p.E400K 1.000 114 0% 74 27% - - benign(0.133) deleterious(0.05) neutral(0.356) NULL INTS2 57508 genome.wustl.edu 37 17 59999170 59999170 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020748.2 -1 validated p.E159* 1.000 99 0% 34 23.5% - - - - - NULL MED13 9969 genome.wustl.edu 37 17 60060416 60060416 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005121.2 -1 reviewed p.S983Y 1.000 146 0% 66 40.9% - - benign(0.229) deleterious(0.01) neutral(0.429) NULL MED13 9969 genome.wustl.edu 37 17 60062153 60062153 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005121.2 -1 reviewed p.M850I 1.000 326 0.3% 155 32.3% - - benign(0.104) tolerated(0.99) neutral(0.008) NULL ENSG00000188755 0 genome.wustl.edu 37 17 60349287 60349287 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000339120 -1 known p.T87 0.998 391 0% 218 30.7% - - - - - superfamily_RabGAP_TBC TLK2 11011 genome.wustl.edu 37 17 60631049 60631049 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006852.3 +1 validated p.S218F 1.000 228 0% 81 34.6% - - benign(0.223) deleterious(0.03) neutral(0.387) NULL MARCH10 162333 genome.wustl.edu 37 17 60799873 60799873 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001100875.1 -1 validated p.F730L 1.000 218 0% 108 38.9% - - possibly_damaging(0.882) tolerated(0.08) deleterious(0.644) superfamily_RING/U-box MARCH10 162333 genome.wustl.edu 37 17 60813545 60813545 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001100875.1 -1 validated p.L562I 0.000 105 0% 53 35.8% - - benign(0.144) deleterious(0) neutral(0.457) NULL MARCH10 162333 genome.wustl.edu 37 17 60813617 60813617 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001100875.1 -1 validated p.E538K 0.046 89 0% 44 31.8% - - possibly_damaging(0.798) deleterious(0) deleterious(0.745) NULL TANC2 26115 genome.wustl.edu 37 17 61432186 61432186 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025185.3 +1 validated p.R599* 1.000 88 1.1% 58 50% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases TANC2 26115 genome.wustl.edu 37 17 61432698 61432698 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025185.3 +1 validated p.E769D 1.000 200 0% 106 37.7% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL TANC2 26115 genome.wustl.edu 37 17 61466049 61466049 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025185.3 +1 validated p.I841 0.959 550 0% 224 32.6% - - - - - NULL TANC2 26115 genome.wustl.edu 37 17 61498689 61498689 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025185.3 +1 validated p.F1782L 1.000 212 0% 132 34.1% - - probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL DDX42 11325 genome.wustl.edu 37 17 61895615 61895615 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007372.2 +1 reviewed p.R892C 0.997 46 0% 21 28.6% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL FTSJ3 117246 genome.wustl.edu 37 17 61901303 61901303 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017647.3 -1 reviewed p.K388N 1.000 267 0% 152 14.5% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PSMC5 5705 genome.wustl.edu 37 17 61908724 61908724 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002805.4 +1 reviewed p.S303L 1.000 70 0% 61 34.4% - - benign(0.011) deleterious(0) neutral(0.445) HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases CSH1 1442 genome.wustl.edu 37 17 61972495 61972495 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001317.3 -1 reviewed p.A181T 0.706 473 0% 394 38.1% - - possibly_damaging(0.93) tolerated(0.21) neutral(0.420) HMMPfam_Hormone_1,superfamily_4-helical cytokines CSH1 1442 genome.wustl.edu 37 17 61972690 61972690 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022640.2 -1 reviewed p.P200L 0.006 188 0% 126 34.9% - - possibly_damaging(0.688) deleterious(0) deleterious(0.691) NULL CSHL1 1444 genome.wustl.edu 37 17 61988140 61988140 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022579.1 -1 reviewed p.D52G 1.000 200 0% 145 37.9% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Hormone_1,superfamily_4-helical cytokines CD79B 974 genome.wustl.edu 37 17 62007560 62007560 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039933.1 -1 reviewed p.E103K 0.000 320 0% 256 13.7% - - benign(0) tolerated(0.22) neutral(0.042) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin SCN4A 6329 genome.wustl.edu 37 17 62019319 62019319 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000334.4 -1 reviewed p.F1441 1.000 139 0% 93 34.4% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN4A 6329 genome.wustl.edu 37 17 62026016 62026016 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000334.4 -1 reviewed p.F1033 0.929 98 0% 69 14.5% - - - - - HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels SCN4A 6329 genome.wustl.edu 37 17 62036624 62036624 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000334.4 -1 reviewed e12+1 1.000 112 0% 98 26.5% - - - - - - SCN4A 6329 genome.wustl.edu 37 17 62036709 62036709 + Silent SNP G G A rs181494727 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000334.4 -1 reviewed p.F645 0.995 203 0% 136 19.9% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels TEX2 55852 genome.wustl.edu 37 17 62254767 62254767 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018469.3 -1 validated p.R837I 1.000 334 0% 177 39% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2404 TEX2 55852 genome.wustl.edu 37 17 62271059 62271059 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018469.3 -1 validated p.R679I 0.821 263 0% 172 34.3% - - benign(0.003) tolerated(0.13) neutral(0.253) HMMSmart_PH CEP95 90799 genome.wustl.edu 37 17 62530774 62530774 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138363.1 +1 provisional p.I663 0.074 409 0% 202 33.2% - - - - - NULL SMURF2 64750 genome.wustl.edu 37 17 62589640 62589640 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022739.3 -1 validated p.K84 1.000 182 0.5% 113 37.2% - - - - - HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB GNA13 10672 genome.wustl.edu 37 17 63049662 63049662 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006572.4 -1 validated p.S156 0.968 117 0% 76 31.6% - - - - - HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases RGS9 8787 genome.wustl.edu 37 17 63159173 63159173 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003835.3 +1 reviewed p.D156N 1.000 159 0% 80 33.8% - - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL CEP112 201134 genome.wustl.edu 37 17 63637150 63637150 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145036.3 -1 validated p.L911V 1.000 675 0.1% 419 32.7% - - benign(0.014) tolerated(0.11) neutral(0.272) NULL PRKCA 5578 genome.wustl.edu 37 17 64731716 64731716 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002737.2 +1 reviewed p.R389Q 1.000 242 0% 139 25.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HELZ 9931 genome.wustl.edu 37 17 65156376 65156376 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014877.3 -1 validated e14+1 1.000 208 0% 82 29.3% - - - - - - NOL11 25926 genome.wustl.edu 37 17 65735673 65735673 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015462.3 +1 provisional p.S628 0.951 505 0% 260 35.4% - - - - - NULL BPTF 2186 genome.wustl.edu 37 17 65909054 65909054 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182641.3 +1 reviewed p.R1685Q 0.995 191 0% 110 40.9% - - possibly_damaging(0.656) tolerated(0.17) neutral(0.290) NULL SLC16A6 9120 genome.wustl.edu 37 17 66270100 66270100 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004694.4 -1 validated p.S115Y 0.253 129 0% 63 39.7% - - benign(0) tolerated(1) - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLC16A6 9120 genome.wustl.edu 37 17 66274255 66274255 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004694.4 -1 validated p.I69 0.822 159 0% 93 37.6% - - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter WIPI1 55062 genome.wustl.edu 37 17 66423367 66423367 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017983.5 -1 validated p.E367D 1.000 786 0% 415 21.9% - - benign(0.217) tolerated(0.51) neutral(0.030) NULL WIPI1 55062 genome.wustl.edu 37 17 66449099 66449099 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017983.5 -1 validated p.L39 1.000 284 0% 178 14% - - - - - superfamily_WD40 repeat-like PRKAR1A 5573 genome.wustl.edu 37 17 66511610 66511610 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002734.3 +1 reviewed p.K24Q 1.000 171 0% 75 29.3% - - benign(0.11) tolerated(0.07) neutral(0.328) NULL FAM20A 54757 genome.wustl.edu 37 17 66536067 66536067 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017565.3 -1 validated p.F420 0.976 276 0% 152 26.3% - - - - - HMMPfam_DUF1193 FAM20A 54757 genome.wustl.edu 37 17 66538302 66538302 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017565.3 -1 validated p.S311 1.000 461 0% 216 35.2% - - - - - HMMPfam_DUF1193 ABCA8 10351 genome.wustl.edu 37 17 66864318 66864318 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007168.2 -1 reviewed p.L1552M 1.000 238 0% 131 35.1% - - probably_damaging(0.974) tolerated(0.1) deleterious(0.702) NULL ABCA8 10351 genome.wustl.edu 37 17 66872633 66872633 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007168.2 -1 reviewed p.T1406 0.020 248 0% 159 39% - - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA9 10350 genome.wustl.edu 37 17 67041348 67041348 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080283.3 -1 reviewed p.R145I 0.808 251 0% 162 33.3% - - possibly_damaging(0.671) tolerated(0.35) neutral(0.259) NULL ABCA6 23460 genome.wustl.edu 37 17 67077213 67077213 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080284.2 -1 reviewed p.E1564* 1.000 319 0% 152 38.2% - - - - - NULL ABCA6 23460 genome.wustl.edu 37 17 67083584 67083584 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080284.2 -1 reviewed p.P1243 0.003 824 0% 511 33.7% - - - - - NULL ABCA6 23460 genome.wustl.edu 37 17 67106942 67106942 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080284.2 -1 reviewed p.D758Y 1.000 411 0% 225 38.2% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL ABCA10 10349 genome.wustl.edu 37 17 67215828 67215828 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080282.3 -1 reviewed p.E130* 0.000 153 0% 72 23.6% - - - - - NULL ABCA5 23461 genome.wustl.edu 37 17 67247996 67247996 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018672.3 -1 reviewed p.R1476Q 1.000 194 0.5% 103 41.7% - - probably_damaging(0.977) tolerated(0.43) neutral(0.432) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA5 23461 genome.wustl.edu 37 17 67251958 67251958 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018672.3 -1 reviewed p.E1298* 1.000 99 0% 58 32.8% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases MAP2K6 5608 genome.wustl.edu 37 17 67516457 67516457 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002758.3 +1 reviewed p.K138T 1.000 318 0% 156 42.3% - - possibly_damaging(0.711) deleterious(0) deleterious(0.702) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KCNJ16 3773 genome.wustl.edu 37 17 68128937 68128937 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018658.1 +1 reviewed p.D237Y 0.999 97 0% 52 34.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IRK,superfamily_Ig_E-set LOC124685 124685 genome.wustl.edu 37 17 69617346 69617346 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_040247.2 +1 model NULL 1.000 100 0% 51 35.3% - - - - - - CDC42EP4 23580 genome.wustl.edu 37 17 71281908 71281908 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012121.4 -1 reviewed p.G244 0.015 22 0% 28 42.9% - - - - - NULL SDK2 54549 genome.wustl.edu 37 17 71412023 71412023 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144952.1 -1 provisional p.I765 1.000 195 0% 110 41.8% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TTYH2 94015 genome.wustl.edu 37 17 72249397 72249397 + Silent SNP C C T rs191608577 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032646.5 +1 reviewed p.S479 0.081 88 0% 44 22.7% - - - - - NULL DNAI2 64446 genome.wustl.edu 37 17 72305444 72305444 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023036.4 +1 reviewed p.V422I 1.000 289 0% 208 28.4% - - possibly_damaging(0.688) tolerated(0.06) deleterious(0.569) HMMSmart_SM00320,superfamily_WD40 repeat-like KIF19 124602 genome.wustl.edu 37 17 72339281 72339281 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153209.3 +1 validated p.V146 0.996 66 0% 59 11.9% - - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases GPR142 350383 genome.wustl.edu 37 17 72368696 72368696 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181790.1 +1 provisional p.P449H 0.013 14 0% 13 38.5% - - possibly_damaging(0.475) deleterious(0) deleterious(0.601) NULL CD300E 342510 genome.wustl.edu 37 17 72613306 72613306 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181449.1 -1 provisional p.D113E 0.002 164 0% 88 30.7% - - probably_damaging(0.992) tolerated(0.1) deleterious(0.734) HMMSmart_SM00409,superfamily_Immunoglobulin OTOP2 92736 genome.wustl.edu 37 17 72923893 72923893 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178160.2 +1 validated p.Q215* 0.004 228 0% 159 35.2% - - - - - NULL KCTD2 23510 genome.wustl.edu 37 17 73058266 73058266 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015353.1 +1 validated p.F230V 1.000 244 0% 127 11.8% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL SUMO2 6613 genome.wustl.edu 37 17 73177159 73177159 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006937.3 -1 reviewed p.E49A 1.000 314 0% 143 38.5% - - benign(0.038) tolerated(0.09) neutral(0.298) HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like GGA3 23163 genome.wustl.edu 37 17 73238545 73238545 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138619.2 -1 reviewed p.R207W 0.952 328 0% 241 37.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GAT,superfamily_GAT-like domain GRB2 2885 genome.wustl.edu 37 17 73322040 73322040 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002086.4 -1 reviewed p.D80N 1.000 195 0% 107 13.1% - - benign(0.095) tolerated(0.48) neutral(0.018) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain KIAA0195 9772 genome.wustl.edu 37 17 73487780 73487780 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014738.4 +1 validated p.E465 0.652 94 0% 55 52.7% - - - - - NULL CASKIN2 57513 genome.wustl.edu 37 17 73503190 73503190 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020753.3 -1 validated p.A89T 1.000 29 0% 25 52% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat LLGL2 3993 genome.wustl.edu 37 17 73555445 73555445 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031803.1 +1 reviewed p.R162C 0.531 82 0% 73 41.1% - - benign(0) tolerated(0.07) neutral(0.319) superfamily_WD40 repeat-like FBF1 85302 genome.wustl.edu 37 17 73916414 73916414 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080542.1 -1 provisional p.A576T 0.000 80 0% 28 32.1% - - benign(0.001) tolerated(0.43) neutral(0.013) NULL ACOX1 51 genome.wustl.edu 37 17 73945836 73945836 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004035.6 -1 reviewed p.E481K 0.005 207 0.5% 155 18.1% - - benign(0) tolerated(0.76) neutral(0.001) HMMPfam_ACOX,superfamily_AcylCoADH_C_like ENSG00000251043 0 genome.wustl.edu 37 17 73970677 73970677 + RNA SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000505288 -1 known NULL 0.000 290 0% 152 44.1% - - - - - - EVPL 2125 genome.wustl.edu 37 17 74005393 74005393 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001988.2 -1 validated p.R1298H 1.000 58 0% 50 42% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_Prefoldin SRP68 6730 genome.wustl.edu 37 17 74039941 74039941 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014230.2 -1 reviewed p.S498Y 0.228 244 0% 138 35.5% - - probably_damaging(0.967) deleterious(0.02) deleterious(0.792) superfamily_TPR-like EXOC7 23265 genome.wustl.edu 37 17 74085343 74085343 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000422667 -1 known p.R234C 0.671 255 0% 122 17.2% - - - - - HMMPfam_Exo70 FOXJ1 2302 genome.wustl.edu 37 17 74134157 74134157 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001454.3 -1 reviewed p.K181N 0.912 59 0% 28 42.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 QRICH2 84074 genome.wustl.edu 37 17 74275493 74275493 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032134.1 -1 provisional p.F1423L 1.000 131 0% 75 33.3% - - possibly_damaging(0.609) tolerated(0.07) deleterious(0.530) NULL UBE2O 63893 genome.wustl.edu 37 17 74395595 74395595 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022066.3 -1 validated p.K521 1.000 538 0% 301 11.3% - - - - - NULL UBE2O 63893 genome.wustl.edu 37 17 74396366 74396366 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022066.3 -1 validated p.L339 0.998 107 0% 66 16.7% - - - - - NULL ST6GALNAC2 10610 genome.wustl.edu 37 17 74574855 74574855 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006456.2 -1 validated p.N57H 0.000 405 0% 181 42% - - possibly_damaging(0.513) tolerated(0.6) neutral(0.177) NULL ST6GALNAC1 55808 genome.wustl.edu 37 17 74625115 74625115 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018414.3 -1 validated p.F270 0.192 169 0% 103 19.4% - - - - - NULL SEPT9 10801 genome.wustl.edu 37 17 75494650 75494650 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001113491.1 +1 reviewed p.F557 0.994 56 0% 28 28.6% - - - - - HMMPfam_Septin ENSG00000204283 0 genome.wustl.edu 37 17 75878208 75878208 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000374983 -1 known p.D89Y 0.026 1206 0% 876 36% - - benign(0.238) - - NULL C17orf99 100141515 genome.wustl.edu 37 17 76162050 76162050 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000340363 +1 known p.R241C 0.001 148 0% 58 34.5% - - probably_damaging(0.997) - - NULL TK1 7083 genome.wustl.edu 37 17 76170933 76170933 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003258.4 -1 validated p.E204D 1.000 116 0% 85 16.5% - - benign(0.152) tolerated(0.35) neutral(0.034) NULL PGS1 9489 genome.wustl.edu 37 17 76399860 76399860 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024419.3 +1 provisional p.I364 0.010 132 0% 96 34.4% - - - - - NULL DNAH17 8632 genome.wustl.edu 37 17 76422542 76422542 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000389840 -1 known p.I4327S 0.999 54 0% 41 46.3% - - possibly_damaging(0.813) tolerated(0.09) deleterious(0.603) HMMPfam_Dynein_heavy DNAH17 8632 genome.wustl.edu 37 17 76440755 76440755 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000389840 -1 known p.N3806S 1.000 102 0% 85 35.3% - - benign(0.009) tolerated(0.12) neutral(0.261) HMMPfam_Dynein_heavy DNAH17 8632 genome.wustl.edu 37 17 76447686 76447686 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000389840 -1 known p.Y3519* 0.999 771 0% 399 36.3% - - - - - NULL DNAH17 8632 genome.wustl.edu 37 17 76481033 76481033 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000389840 -1 known p.D2508 0.999 173 0% 102 43.1% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CYTH1 9267 genome.wustl.edu 37 17 76696474 76696474 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004762.2 -1 reviewed p.R163 1.000 145 0% 81 30.9% - - - - - HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain USP36 57602 genome.wustl.edu 37 17 76803466 76803466 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025090.3 -1 validated p.P554S 0.000 363 0% 192 34.4% - - unknown(0) tolerated(0.23) - NULL USP36 57602 genome.wustl.edu 37 17 76823364 76823364 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025090.3 -1 validated p.D218N 1.000 73 0% 33 33.3% - - possibly_damaging(0.818) tolerated(0.08) deleterious(0.609) HMMPfam_UCH,superfamily_SSF54001 USP36 57602 genome.wustl.edu 37 17 76825010 76825010 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025090.3 -1 validated p.I185 1.000 179 0% 55 49.1% - - - - - HMMPfam_UCH,superfamily_SSF54001 TIMP2 7077 genome.wustl.edu 37 17 76853654 76853654 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003255.4 -1 reviewed p.T139A 0.997 109 0% 89 39.3% - - benign(0.304) tolerated(0.63) neutral(0.098) HMMPfam_TIMP,HMMSmart_NTR,superfamily_TIMP_like C1QTNF1 114897 genome.wustl.edu 37 17 77044162 77044162 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030968.2 +1 validated p.E280K 0.993 33 0% 25 32% - - probably_damaging(0.96) deleterious(0.01) deleterious(0.808) NULL RBFOX3 146713 genome.wustl.edu 37 17 77102736 77102736 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001082575.1 -1 validated p.F119 0.994 110 0% 73 32.9% - - - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 ENPP7 339221 genome.wustl.edu 37 17 77709132 77709132 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178543.3 +1 validated p.I230 0.000 75 0% 54 40.7% - - - - - HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core CCDC40 55036 genome.wustl.edu 37 17 78021185 78021185 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017950.2 +1 validated p.F220 0.000 52 0% 39 28.2% - - - - - NULL GAA 2548 genome.wustl.edu 37 17 78086494 78086494 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000152.3 +1 reviewed p.L624 0.001 18 0% 21 28.6% - - - - - HMMPfam_Glyco_hydro_31,superfamily_Glyco_hydro_cat CARD14 79092 genome.wustl.edu 37 17 78157852 78157852 + Missense_Mutation SNP G G A rs149667803 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024110.2 +1 reviewed p.E164K 0.855 18 0% 18 38.9% - - probably_damaging(0.995) tolerated(1) neutral(0.458) NULL RNF213 57674 genome.wustl.edu 37 17 78301767 78301767 + Missense_Mutation SNP G G C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000508628 +1 known p.Q1115H 0.643 248 0% 179 11.2% - - probably_damaging(0.983) deleterious(0.02) deleterious(0.812) NULL RNF213 57674 genome.wustl.edu 37 17 78320403 78320403 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000508628 +1 known p.V2756 0.001 40 0% 22 45.5% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases RNF213 57674 genome.wustl.edu 37 17 78321703 78321703 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000508628 +1 known p.E3190K 0.047 210 0% 149 35.6% - - benign(0.011) tolerated(0.33) neutral(0.025) NULL RNF213 57674 genome.wustl.edu 37 17 78360128 78360128 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000508628 +1 known p.R4873Q 0.993 157 0% 102 12.7% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL RNF213 57674 genome.wustl.edu 37 17 78360622 78360622 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000508628 +1 known p.F4951 0.980 65 0% 53 37.7% - - - - - NULL NPTX1 4884 genome.wustl.edu 37 17 78449479 78449479 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002522.3 -1 reviewed p.L162F 1.000 130 0% 64 32.8% - - benign(0.208) tolerated(0.26) neutral(0.054) NULL AATK 9625 genome.wustl.edu 37 17 79094786 79094786 + Splice_Site SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000374792 -1 known e13-2 0.002 40 0% 27 40.7% - - - - - - BAHCC1 57597 genome.wustl.edu 37 17 79414807 79414807 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080519.2 +1 inferred p.D1248N 0.033 44 0% 29 24.1% - - - - - NULL MRPL12 6182 genome.wustl.edu 37 17 79674064 79674064 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000332396 +1 known p.S157L 0.053 101 0% 63 41.3% - - benign(0) tolerated(1) - NULL P4HB 5034 genome.wustl.edu 37 17 79804940 79804940 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000436463 -1 known p.R198Q 0.463 267 0% 135 43% - - - - - NULL PCYT2 5833 genome.wustl.edu 37 17 79867402 79867402 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002861.3 -1 reviewed p.V56M 0.999 139 0% 140 35.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CTP_transf_2,superfamily_Nucleotidylyl transferase NOTUM 147111 genome.wustl.edu 37 17 79910912 79910912 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178493.5 -1 validated p.F472 0.941 51 0% 46 47.8% - - - - - NULL TEX19 400629 genome.wustl.edu 37 17 80320075 80320075 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207459.2 +1 provisional p.L17F 0.594 173 0% 89 30.3% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL FOXK2 3607 genome.wustl.edu 37 17 80525992 80525992 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004514.3 +1 reviewed p.R226Q 1.000 114 0% 63 36.5% - - possibly_damaging(0.827) tolerated(0.52) neutral(0.323) NULL ZNF750 79755 genome.wustl.edu 37 17 80790213 80790213 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024702.2 -1 reviewed p.L40I 0.999 287 0% 120 40.8% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_ZnF_C2H2 TBCD 6904 genome.wustl.edu 37 17 80884364 80884364 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005993.4 +1 reviewed p.A823V 0.101 220 0% 133 34.6% - - possibly_damaging(0.772) tolerated(0.19) neutral(0.336) superfamily_ARM repeat TBCD 6904 genome.wustl.edu 37 17 80895187 80895187 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005993.4 +1 reviewed p.E1078* 1.000 225 0% 110 32.7% - - - - - superfamily_ARM repeat USP14 9097 genome.wustl.edu 37 18 166795 166795 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005151.3 +1 reviewed p.D57E 1.000 627 0% 245 27.8% - - benign(0) tolerated(0.54) neutral(0.007) HMMSmart_UBQ,superfamily_SSF54236 THOC1 9984 genome.wustl.edu 37 18 214788 214788 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005131.2 -1 validated p.C604 0.992 529 0% 366 33.9% - - - - - HMMPfam_Death,HMMSmart_DEATH,superfamily_DEATH_like CLUL1 27098 genome.wustl.edu 37 18 627119 627119 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014410.4 +1 validated p.I149T 0.890 141 0% 84 13.1% - - probably_damaging(0.977) tolerated(0.06) deleterious(0.742) HMMPfam_Clusterin,HMMSmart_CLb ENSG00000215726 0 genome.wustl.edu 37 18 697390 697390 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000508278 +1 novel NULL 0.000 216 0% 130 30.8% - - - - - - YES1 7525 genome.wustl.edu 37 18 739756 739756 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005433.3 -1 reviewed p.Q372 0.481 214 0% 95 11.6% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like YES1 7525 genome.wustl.edu 37 18 745805 745805 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005433.3 -1 reviewed p.V209 1.000 452 0% 265 34.7% - - - - - HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 NDC80 10403 genome.wustl.edu 37 18 2577764 2577764 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006101.2 +1 validated p.R67W 1.000 184 0% 81 37% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ndc80_HEC SMCHD1 23347 genome.wustl.edu 37 18 2726497 2726497 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015295.2 +1 validated p.Q916H 1.000 62 0% 18 38.9% - - possibly_damaging(0.915) tolerated(0.12) deleterious(0.627) NULL EMILIN2 84034 genome.wustl.edu 37 18 2890578 2890578 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032048.2 +1 validated p.F151 0.086 66 0% 29 13.8% - - - - - NULL MYOM1 8736 genome.wustl.edu 37 18 3094169 3094169 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000400569 -1 known p.R1191* 1.000 259 0% 109 34.9% - - possibly_damaging(0.847) deleterious(0.04) deleterious(0.674) NULL MYOM1 8736 genome.wustl.edu 37 18 3154945 3154945 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003803.3 -1 reviewed p.K548T 1.000 172 0% 95 37.9% - - possibly_damaging(0.721) deleterious(0.03) deleterious(0.626) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MYOM1 8736 genome.wustl.edu 37 18 3174171 3174171 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003803.3 -1 reviewed p.S353L 1.000 336 0% 154 39% - - benign(0.176) tolerated(0.06) neutral(0.339) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MYOM1 8736 genome.wustl.edu 37 18 3188781 3188781 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003803.3 -1 reviewed p.R246* 0.997 543 0.2% 377 37.9% - - - - - NULL MYOM1 8736 genome.wustl.edu 37 18 3215091 3215091 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003803.3 -1 reviewed p.T44M 0.008 62 0% 62 38.7% - - possibly_damaging(0.884) deleterious(0.01) deleterious(0.750) NULL LAMA1 284217 genome.wustl.edu 37 18 6942197 6942197 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005559.2 -1 validated p.R3037C 1.000 141 0% 70 40% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_1 LAMA1 284217 genome.wustl.edu 37 18 7042185 7042185 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005559.2 -1 validated p.S407F 0.998 145 0% 75 32% - - probably_damaging(0.992) deleterious(0.03) deleterious(0.812) HMMPfam_Laminin_EGF,HMMSmart_SM00180,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin LAMA1 284217 genome.wustl.edu 37 18 7050933 7050933 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005559.2 -1 validated p.V116 0.951 116 0% 91 18.7% - - - - - HMMPfam_Laminin_N,HMMSmart_SM00136,superfamily_Galactose-binding domain-like LRRC30 339291 genome.wustl.edu 37 18 7231721 7231721 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105581.1 +1 provisional p.S195 0.996 148 0% 104 39.4% - - - - - superfamily_SSF52058 PTPRM 5797 genome.wustl.edu 37 18 7774265 7774265 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105244.1 +1 reviewed p.P64 0.893 339 0% 178 35.4% - - - - - HMMPfam_MAM,HMMSmart_SM00137 PTPRM 5797 genome.wustl.edu 37 18 8069702 8069702 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105244.1 +1 reviewed p.R384I 0.991 199 0.5% 87 33.3% - - probably_damaging(0.955) deleterious(0) deleterious(0.843) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRM 5797 genome.wustl.edu 37 18 8085711 8085711 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105244.1 +1 reviewed p.L532V 1.000 281 0% 143 14% - - benign(0.005) tolerated(0.89) - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRM 5797 genome.wustl.edu 37 18 8376129 8376129 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105244.1 +1 reviewed p.L1086R 1.000 48 0% 31 25.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II SOGA2 23255 genome.wustl.edu 37 18 8718560 8718560 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015210.3 +1 predicted p.R38W 1.000 306 0% 162 34% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SOGA2 23255 genome.wustl.edu 37 18 8784101 8784101 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015210.3 +1 predicted p.G331W 0.171 22 0% 20 45% - - possibly_damaging(0.942) deleterious(0.03) deleterious(0.752) NULL SOGA2 23255 genome.wustl.edu 37 18 8819105 8819105 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015210.3 +1 predicted p.P1002S 0.106 70 0% 49 20.4% - - benign(0.122) tolerated(0.14) neutral(0.260) NULL ANKRD12 23253 genome.wustl.edu 37 18 9211713 9211713 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015208.3 +1 validated p.R195* 0.998 344 0% 159 15.1% - - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ANKRD12 23253 genome.wustl.edu 37 18 9257187 9257187 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015208.3 +1 validated p.R1308* 1.000 183 0% 104 46.2% - - - - - superfamily_Ankyrin repeat ANKRD12 23253 genome.wustl.edu 37 18 9257427 9257427 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015208.3 +1 validated p.L1388I 0.939 130 0% 82 42.7% - - benign(0.033) deleterious(0.03) neutral(0.366) superfamily_Ankyrin repeat ANKRD12 23253 genome.wustl.edu 37 18 9258721 9258721 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015208.3 +1 validated p.S1819Y 1.000 109 0% 72 18.1% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_Ankyrin repeat RALBP1 10928 genome.wustl.edu 37 18 9516915 9516915 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006788.3 +1 validated p.S106F 1.000 148 0% 66 39.4% - - possibly_damaging(0.92) deleterious(0) deleterious(0.816) NULL RALBP1 10928 genome.wustl.edu 37 18 9517096 9517096 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006788.3 +1 validated p.K166N 1.000 223 0% 94 38.3% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL TXNDC2 84203 genome.wustl.edu 37 18 9888127 9888127 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098529.1 +1 validated p.E551K 0.988 64 0% 33 27.3% - - benign(0.344) tolerated(0.09) neutral(0.405) superfamily_Thioredoxin-like,HMMPfam_Thioredoxin VAPA 9218 genome.wustl.edu 37 18 9936135 9936135 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003574.5 +1 reviewed p.P87 0.961 343 0% 174 42% - - - - - HMMPfam_Motile_Sperm,superfamily_PapD-like VAPA 9218 genome.wustl.edu 37 18 9937059 9937059 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003574.5 +1 reviewed p.K138T 1.000 211 0% 163 38.7% - - benign(0.03) tolerated(0.09) neutral(0.298) NULL VAPA 9218 genome.wustl.edu 37 18 9950516 9950516 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003574.5 +1 reviewed p.R226I 1.000 270 0% 112 40.2% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL PIEZO2 63895 genome.wustl.edu 37 18 10677844 10677844 + Frame_Shift_Del DEL T T - novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000503781 -1 known p.I442fs 1.000 - - - - - - - - - NULL ENSG00000175388 0 genome.wustl.edu 37 18 10760977 10760977 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000383408 -1 known p.L391I 1.000 159 0% 90 34.4% - - probably_damaging(0.981) tolerated(0.1) deleterious(0.712) NULL ENSG00000175388 0 genome.wustl.edu 37 18 10763064 10763064 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000383408 -1 known p.S256 1.000 186 0% 101 24.8% - - - - - NULL ENSG00000175388 0 genome.wustl.edu 37 18 10787102 10787102 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000383408 -1 known p.F13L 1.000 349 0% 190 25.8% - - benign(0) tolerated(1) - NULL LOC729602 729602 genome.wustl.edu 37 18 11621157 11621157 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344140.1 -1 model p.R194K 0.003 179 0% 129 18.6% - - - - - HMMPfam_NPIP SLC35G4 646000 genome.wustl.edu 37 18 11644429 11644429 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000424015 +1 known p.L207R 0.300 222 0% 144 14.6% - - - - - NULL GNAL 2774 genome.wustl.edu 37 18 11868595 11868595 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182978.2 +1 validated p.R322* 1.000 254 0% 167 36.5% - - - - - HMMPfam_G-alpha,superfamily_SSF52540 SPIRE1 56907 genome.wustl.edu 37 18 12479708 12479708 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128626.1 -1 validated p.S465Y 1.000 275 0% 145 44.1% - - probably_damaging(0.993) deleterious(0.04) deleterious(0.799) NULL SPIRE1 56907 genome.wustl.edu 37 18 12496017 12496017 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128626.1 -1 validated p.P353S 1.000 385 0% 184 14.7% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL SPIRE1 56907 genome.wustl.edu 37 18 12546713 12546713 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128626.1 -1 validated p.R188I 0.923 307 0% 171 31% - - possibly_damaging(0.649) tolerated(0.05) deleterious(0.574) HMMSmart_SM00750 CEP76 79959 genome.wustl.edu 37 18 12700974 12700974 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024899.2 -1 provisional p.E68* 1.000 307 0% 217 28.1% - - - - - NULL CEP76 79959 genome.wustl.edu 37 18 12701088 12701088 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024899.2 -1 provisional p.E30* 1.000 313 0% 169 29.6% - - - - - NULL CEP192 55125 genome.wustl.edu 37 18 13015396 13015396 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000506447 +1 known p.L197V 0.306 287 0% 189 39.7% - - benign(0.364) tolerated(0.06) neutral(0.439) NULL CEP192 55125 genome.wustl.edu 37 18 13029915 13029915 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000506447 +1 known p.G435E 0.000 237 0% 126 35.7% - - benign(0.001) deleterious(0) neutral(0.445) NULL C18orf1 753 genome.wustl.edu 37 18 13612729 13612729 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001003674.2 +1 validated p.S9I 0.981 242 0% 117 30.8% - - benign(0.013) tolerated(0.06) neutral(0.323) NULL FAM210A 125228 genome.wustl.edu 37 18 13681918 13681918 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098801.1 -1 validated p.K53 0.000 387 0% 258 12% - - - - - NULL LOC729774 729774 genome.wustl.edu 37 18 14361677 14361677 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001131264.2 -1 model p.A101V 0.010 68 0% 44 29.5% - - - - - NULL LOC646359 646359 genome.wustl.edu 37 18 14377850 14377850 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_929288.3 -1 model p.E305* 0.282 57 0% 27 29.6% - - - - - NULL POTEC 388468 genome.wustl.edu 37 18 14511988 14511988 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001137671.1 -1 validated p.S513Y 0.856 433 0% 232 39.2% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL ROCK1 6093 genome.wustl.edu 37 18 18547870 18547870 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005406.2 -1 reviewed p.R1012Q 1.000 343 0% 169 36.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Rho_Binding ROCK1 6093 genome.wustl.edu 37 18 18603609 18603609 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005406.2 -1 reviewed p.R415I 1.000 182 0% 78 34.6% - - benign(0.01) tolerated(0.21) neutral(0.044) NULL ROCK1 6093 genome.wustl.edu 37 18 18629794 18629794 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005406.2 -1 reviewed p.D75N 1.000 529 0% 191 39.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like ROCK1 6093 genome.wustl.edu 37 18 18629808 18629808 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005406.2 -1 reviewed p.R70Q 1.000 470 0% 172 33.7% - - possibly_damaging(0.76) tolerated(0.4) neutral(0.297) superfamily_Kinase_like GREB1L 80000 genome.wustl.edu 37 18 19096578 19096578 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142966.1 +1 provisional p.F1712V 1.000 255 0% 157 38.2% - - probably_damaging(0.995) tolerated(0.57) neutral(0.464) NULL ESCO1 114799 genome.wustl.edu 37 18 19154243 19154243 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052911.2 -1 validated p.E188* 0.998 290 0% 176 36.9% - - - - - NULL ABHD3 171586 genome.wustl.edu 37 18 19231713 19231713 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138340.4 -1 reviewed p.E357* 1.000 128 0% 79 43% - - - - - HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases CTAGE1 64693 genome.wustl.edu 37 18 19996547 19996547 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172241.2 -1 validated p.E410* 0.993 233 0% 102 39.2% - - - - - NULL CTAGE1 64693 genome.wustl.edu 37 18 19996811 19996811 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172241.2 -1 validated p.E322K 0.268 202 0% 70 11.4% - - benign(0.372) tolerated(0.06) neutral(0.441) NULL CTAGE1 64693 genome.wustl.edu 37 18 19996877 19996877 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172241.2 -1 validated p.E300* 0.832 295 0% 122 31.1% - - - - - NULL RBBP8 5932 genome.wustl.edu 37 18 20516899 20516899 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002894.2 +1 reviewed p.E29* 1.000 382 0% 183 37.2% - - - - - HMMPfam_CtIP_N RIOK3 8780 genome.wustl.edu 37 18 21046199 21046199 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003831.3 +1 reviewed p.R216* 1.000 185 0% 89 42.7% - - - - - NULL NPC1 4864 genome.wustl.edu 37 18 21116674 21116674 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000271.4 -1 reviewed p.G1070S 0.990 222 0% 186 37.6% - - benign(0) tolerated(0.52) neutral(0.009) HMMPfam_Patched,superfamily_SSF82866 LAMA3 3909 genome.wustl.edu 37 18 21422439 21422439 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198129.1 +1 reviewed p.P1139 0.000 113 0% 99 36.4% - - - - - NULL HRH4 59340 genome.wustl.edu 37 18 22056854 22056854 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021624.3 +1 reviewed p.G167 0.868 612 0% 411 31.1% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF521 25925 genome.wustl.edu 37 18 22804419 22804419 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015461.2 -1 validated p.N1155H 1.000 250 0% 204 39.2% - - benign(0.396) tolerated(0.07) neutral(0.446) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers KCTD1 284252 genome.wustl.edu 37 18 24039732 24039732 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142730.1 -1 validated p.T764M 0.997 152 0% 109 38.5% - - benign(0.008) tolerated(0.47) neutral(0.011) NULL KCTD1 284252 genome.wustl.edu 37 18 24128045 24128045 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142730.1 -1 validated p.G152 0.987 8 0.000 8 0.750 - - - - - NULL AQP4 361 genome.wustl.edu 37 18 24436259 24436259 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001650.4 -1 reviewed p.P296 0.818 659 0% 397 33.2% - - - - - NULL DSC2 1824 genome.wustl.edu 37 18 28669484 28669484 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024422.3 -1 reviewed p.R183L 0.000 249 0% 146 37% - - benign(0.001) tolerated(1) - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSC2 1824 genome.wustl.edu 37 18 28671100 28671100 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024422.3 -1 reviewed p.K122T 0.058 340 0% 175 36% - - benign(0.024) tolerated(0.22) neutral(0.043) superfamily_Cadherin-like DSC1 1823 genome.wustl.edu 37 18 28714584 28714584 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024421.2 -1 reviewed p.F609L 0.018 322 0% 197 13.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSC1 1823 genome.wustl.edu 37 18 28725702 28725702 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024421.2 -1 reviewed p.E271K 1.000 545 0% 266 41.7% - - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSG1 1828 genome.wustl.edu 37 18 28914121 28914121 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001942.2 +1 reviewed p.E321* 1.000 121 0% 72 18.1% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSG1 1828 genome.wustl.edu 37 18 28914139 28914139 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001942.2 +1 reviewed p.N327H 1.000 104 0% 50 50% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSG1 1828 genome.wustl.edu 37 18 28918325 28918325 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001942.2 +1 reviewed p.R438I 0.128 196 0% 62 29% - - benign(0.019) deleterious(0.04) neutral(0.350) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSG4 147409 genome.wustl.edu 37 18 28979442 28979442 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134453.1 +1 reviewed p.N405H 0.995 255 0% 152 42.8% - - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Cadherin,superfamily_Cadherin DSG4 147409 genome.wustl.edu 37 18 28992970 28992970 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134453.1 +1 reviewed p.E864D 0.999 280 0% 178 33.7% - - benign(0.292) tolerated(0.38) neutral(0.107) NULL DSG2 1829 genome.wustl.edu 37 18 29125708 29125708 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001943.3 +1 reviewed p.D787Y 0.852 122 0% 60 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DSG2 1829 genome.wustl.edu 37 18 29126691 29126691 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001943.3 +1 reviewed p.Q1114 0.241 74 0% 38 26.3% - - - - - NULL TRAPPC8 22878 genome.wustl.edu 37 18 29410896 29410896 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014939.3 -1 validated p.K1377T 1.000 260 0% 165 39.4% - - benign(0.055) tolerated(0.44) neutral(0.016) NULL TRAPPC8 22878 genome.wustl.edu 37 18 29432414 29432414 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014939.3 -1 validated p.E1186* 1.000 492 0% 262 13% - - - - - NULL TRAPPC8 22878 genome.wustl.edu 37 18 29489639 29489639 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014939.3 -1 validated p.E286* 1.000 263 0% 118 11% - - - - - NULL C18orf34 374864 genome.wustl.edu 37 18 30969587 30969587 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105528.1 -1 validated p.A42D 0.002 200 0% 86 34.9% - - possibly_damaging(0.8) deleterious(0) deleterious(0.746) NULL C18orf34 374864 genome.wustl.edu 37 18 30992048 30992048 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105528.1 -1 validated p.T2N 0.976 205 0% 99 28.3% - - possibly_damaging(0.5) tolerated(0.11) neutral(0.439) NULL ASXL3 80816 genome.wustl.edu 37 18 31319541 31319541 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030632.1 +1 provisional p.T725A 0.999 273 0% 150 33.3% - - benign(0.001) deleterious(0) neutral(0.445) NULL ASXL3 80816 genome.wustl.edu 37 18 31323626 31323626 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030632.1 +1 provisional p.T1272A 1.000 187 0% 84 14.3% - - benign(0.19) deleterious(0.02) neutral(0.401) NULL ASXL3 80816 genome.wustl.edu 37 18 31325931 31325931 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030632.1 +1 provisional p.P2040L 0.985 33 0% 17 41.2% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NOL4 8715 genome.wustl.edu 37 18 31599388 31599388 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003787.3 -1 validated p.S317L 0.998 524 0% 290 41.4% - - probably_damaging(0.99) deleterious(0.04) deleterious(0.790) NULL DTNA 1837 genome.wustl.edu 37 18 32345936 32345936 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001390.4 +1 reviewed p.L27M 1.000 209 0% 122 23.8% - - possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMPfam_efhand_1,superfamily_EF-hand DTNA 1837 genome.wustl.edu 37 18 32455329 32455329 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001390.4 +1 reviewed p.V597L 1.000 155 0% 84 23.8% - - benign(0.333) tolerated(0.06) neutral(0.427) NULL MAPRE2 10982 genome.wustl.edu 37 18 32712070 32712070 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014268.2 +1 reviewed p.I275 0.992 271 0% 150 10.7% - - - - - HMMPfam_EB1 ZNF397 84307 genome.wustl.edu 37 18 32822598 32822598 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135178.2 +1 reviewed p.K55T 0.995 85 0% 65 33.8% - - probably_damaging(0.958) deleterious(0.01) deleterious(0.807) HMMPfam_SCAN,HMMSmart_SM00431 ZNF397 84307 genome.wustl.edu 37 18 32825919 32825919 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135178.2 +1 reviewed p.R417Q 1.000 191 0% 143 12.6% - - probably_damaging(0.998) tolerated(0.1) deleterious(0.761) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF24 7572 genome.wustl.edu 37 18 32917491 32917491 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006965.2 -1 validated p.R271I 1.000 284 0% 187 36.4% - - possibly_damaging(0.522) deleterious(0.01) deleterious(0.582) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF24 7572 genome.wustl.edu 37 18 32917563 32917563 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006965.2 -1 validated p.R247Q 0.990 232 0% 183 32.8% - - probably_damaging(0.973) tolerated(0.69) neutral(0.417) superfamily_SSF57667 ZNF396 252884 genome.wustl.edu 37 18 32949562 32949562 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145756.2 -1 validated p.E209* 0.008 322 0.6% 199 36.7% - - - - - NULL MIR187 406963 genome.wustl.edu 37 18 33484862 33484862 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000385062 -1 known NULL 1.000 26 0% 30 46.7% - - - - - - SLC39A6 25800 genome.wustl.edu 37 18 33703529 33703529 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012319.3 -1 validated p.L357F 1.000 247 0% 109 38.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Zip MOCOS 55034 genome.wustl.edu 37 18 33783113 33783113 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017947.2 +1 validated p.A327T 1.000 356 0% 204 31.4% - - probably_damaging(0.974) deleterious(0.04) deleterious(0.765) HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases FHOD3 80206 genome.wustl.edu 37 18 34297965 34297965 + Missense_Mutation SNP G G C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025135.2 +1 validated p.V727L 0.002 133 0% 89 33.7% - - benign(0.178) tolerated(0.52) neutral(0.025) NULL FHOD3 80206 genome.wustl.edu 37 18 34298583 34298583 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025135.2 +1 validated p.E933* 1.000 176 0% 105 39% - - - - - HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd KIAA1328 57536 genome.wustl.edu 37 18 34647094 34647094 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020776.1 +1 validated p.S273F 0.743 182 0% 101 29.7% - - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) NULL RIT2 6014 genome.wustl.edu 37 18 40503670 40503670 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002930.2 -1 provisional p.C98Y 1.000 106 0% 85 40% - - possibly_damaging(0.903) deleterious(0) deleterious(0.802) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases SLC14A1 6563 genome.wustl.edu 37 18 43314325 43314325 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128588.3 +1 reviewed p.F199C 1.000 555 0% 320 36.2% - - probably_damaging(0.987) deleterious(0.02) deleterious(0.820) HMMPfam_UT EPG5 57724 genome.wustl.edu 37 18 43469867 43469867 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020964.2 -1 validated p.Q1616 1.000 238 0% 173 44.5% - - - - - NULL ATP5A1 498 genome.wustl.edu 37 18 43666423 43666423 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001937.1 -1 reviewed p.R405H 1.000 175 0% 107 42.1% - - possibly_damaging(0.9) deleterious(0) deleterious(0.801) HMMPfam_ATP-synt_ab,superfamily_P-loop containing nucleoside triphosphate hydrolases C18orf25 147339 genome.wustl.edu 37 18 43796215 43796215 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145055.3 +1 validated p.A123 0.000 89 0% 46 50% - - - - - NULL LOXHD1 125336 genome.wustl.edu 37 18 44069073 44069073 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145472.2 -1 reviewed p.D860N 0.961 201 0% 134 28.4% - - benign(0.382) deleterious(0.04) deleterious(0.471) HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) LOXHD1 125336 genome.wustl.edu 37 18 44159619 44159619 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144612.6 -1 reviewed p.N317D 1.000 330 0% 245 31% - - benign(0.008) deleterious(0.04) neutral(0.349) HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase ST8SIA5 29906 genome.wustl.edu 37 18 44260332 44260332 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013305.4 -1 reviewed p.F268 1.000 85 0% 54 42.6% - - - - - HMMPfam_Glyco_transf_29 PIAS2 9063 genome.wustl.edu 37 18 44470800 44470800 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004671.2 -1 validated p.S81L 0.097 180 0% 96 11.5% - - benign(0.257) tolerated(0.18) neutral(0.083) NULL PIAS2 9063 genome.wustl.edu 37 18 44497293 44497293 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004671.2 -1 validated p.E6* 0.998 68 0% 37 32.4% - - - - - NULL TCEB3B 51224 genome.wustl.edu 37 18 44559944 44559944 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016427.2 -1 reviewed p.P564 0.050 185 0% 88 47.7% - - - - - HMMPfam_Elongin_A KATNAL2 83473 genome.wustl.edu 37 18 44625657 44625657 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031303.2 +1 validated p.L347 1.000 73 0% 76 42.1% - - - - - HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 SMAD2 4087 genome.wustl.edu 37 18 45394805 45394805 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001003652.2 -1 reviewed p.R182* 0.994 342 0% 150 32.7% - - - - - NULL MYO5B 4645 genome.wustl.edu 37 18 47518794 47518794 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080467.2 -1 reviewed p.G207E 1.000 272 0.4% 191 30.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases LOC100287130 100287130 genome.wustl.edu 37 18 47808872 47808872 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343599.1 +1 model p.P24 0.000 50 0% 29 20.7% - - - - - NULL SKA1 220134 genome.wustl.edu 37 18 47917607 47917607 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039535.2 +1 validated p.S188Y 0.991 156 0% 62 80.6% - - probably_damaging(0.961) deleterious(0.03) deleterious(0.768) HMMPfam_DUF1395 MRO 83876 genome.wustl.edu 37 18 48331679 48331679 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127176.1 -1 reviewed p.D106N 0.943 194 0% 124 31.5% - - possibly_damaging(0.777) deleterious(0.01) deleterious(0.696) superfamily_ARM repeat ME2 4200 genome.wustl.edu 37 18 48422288 48422288 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002396.4 +1 reviewed p.R33I 1.000 328 0% 136 40.4% - - probably_damaging(0.985) tolerated(0.19) deleterious(0.481) superfamily_SSF53223 ME2 4200 genome.wustl.edu 37 18 48434466 48434466 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002396.4 +1 reviewed p.L48I 1.000 232 0% 102 42.2% - - possibly_damaging(0.873) deleterious(0.05) deleterious(0.684) superfamily_SSF53223 ME2 4200 genome.wustl.edu 37 18 48466672 48466672 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002396.4 +1 reviewed p.Q501H 0.880 295 0% 145 35.9% - - benign(0.008) tolerated(0.47) neutral(0.011) HMMPfam_Malic_M,superfamily_NAD(P)-bd ELAC1 55520 genome.wustl.edu 37 18 48513443 48513443 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018696.2 +1 validated p.P360 0.769 120 0% 61 32.8% - - - - - NULL SMAD4 4089 genome.wustl.edu 37 18 48604790 48604790 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005359.5 +1 reviewed p.E538K 1.000 156 0% 87 28.7% - - benign(0.106) tolerated(0.56) neutral(0.014) superfamily_SMAD/FHA domain DCC 1630 genome.wustl.edu 37 18 50848514 50848514 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005215.3 +1 reviewed p.E717D 1.000 180 0% 112 43.8% - - possibly_damaging(0.764) deleterious(0.04) deleterious(0.632) superfamily_Fibronectin type III DCC 1630 genome.wustl.edu 37 18 51013309 51013309 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005215.3 +1 reviewed p.F1293 0.416 250 0% 132 28.8% - - - - - HMMPfam_Neogenin_C LOC100133176 100133176 genome.wustl.edu 37 18 51668701 51668701 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001721815.1 +1 model p.N4K 0.396 79 0% 25 36% - - - - - NULL TXNL1 9352 genome.wustl.edu 37 18 54281690 54281690 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004786.2 -1 validated p.R234C 1.000 324 0% 166 41% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DUF1000 TXNL1 9352 genome.wustl.edu 37 18 54291656 54291656 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004786.2 -1 validated p.T78A 1.000 612 0% 352 34.9% - - possibly_damaging(0.875) deleterious(0) deleterious(0.784) superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin NARS 4677 genome.wustl.edu 37 18 55269014 55269014 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004539.3 -1 validated p.R506I 1.000 114 0% 74 43.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_2,superfamily_SSF55681 MALT1 10892 genome.wustl.edu 37 18 56390363 56390363 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006785.2 +1 reviewed p.E368K 1.000 521 0% 348 14.9% - - probably_damaging(0.996) tolerated(0.24) deleterious(0.499) HMMPfam_Peptidase_C14,superfamily_Caspase-like ZNF532 55205 genome.wustl.edu 37 18 56586400 56586400 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018181.4 +1 validated p.S294L 0.948 73 0% 54 14.8% - - possibly_damaging(0.69) deleterious(0.05) deleterious(0.593) NULL CPLX4 339302 genome.wustl.edu 37 18 56964052 56964052 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181654.3 -1 reviewed p.D121Y 1.000 450 0% 242 36% - - possibly_damaging(0.887) deleterious(0.03) deleterious(0.712) NULL CCBE1 147372 genome.wustl.edu 37 18 57122171 57122171 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133459.3 -1 reviewed p.S189Y 0.035 183 0% 113 38.1% - - benign(0.123) - - NULL MC4R 4160 genome.wustl.edu 37 18 58038691 58038691 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005912.2 -1 reviewed p.D298N 1.000 268 0% 130 33.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CDH20 28316 genome.wustl.edu 37 18 59166618 59166618 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031891.2 +1 reviewed p.S149* 1.000 138 0% 73 38.4% - - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin RNF152 220441 genome.wustl.edu 37 18 59483116 59483116 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173557.2 -1 validated p.S194Y 1.000 152 0% 100 28% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL PIGN 23556 genome.wustl.edu 37 18 59756030 59756030 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012327.5 -1 reviewed p.R777* 1.000 264 0% 126 37.3% - - - - - HMMPfam_PigN TNFRSF11A 8792 genome.wustl.edu 37 18 60051984 60051984 + Missense_Mutation SNP G G T rs150973326 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003839.2 +1 reviewed p.G523V 1.000 83 0% 48 14.6% - - benign(0.093) deleterious(0.02) neutral(0.390) NULL ZCCHC2 54877 genome.wustl.edu 37 18 60207019 60207019 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017742.4 +1 validated p.R349* 1.000 262 0% 156 33.3% - - - - - superfamily_PX PHLPP1 23239 genome.wustl.edu 37 18 60562356 60562356 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194449.2 +1 validated p.R215* 0.002 139 0% 100 45% - - - - - HMMSmart_SM00364,superfamily_L domain-like SERPINB13 5275 genome.wustl.edu 37 18 61256910 61256910 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012397.3 +1 validated p.E62 0.005 433 0% 149 35.6% - - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINB7 8710 genome.wustl.edu 37 18 61471575 61471575 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040147.1 +1 validated p.K283N 0.158 112 0% 54 29.6% - - possibly_damaging(0.944) tolerated(0.24) neutral(0.426) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINB2 5055 genome.wustl.edu 37 18 61564364 61564364 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143818.1 +1 validated p.L110I 0.827 371 0% 168 19% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINB10 5273 genome.wustl.edu 37 18 61602401 61602401 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005024.1 +1 provisional p.N373 0.936 241 0% 113 38.1% - - - - - HMMPfam_Serpin,HMMSmart_SERPIN,PatternScan_SERPIN,superfamily_Prot_inh_serpin HMSD 284293 genome.wustl.edu 37 18 61627535 61627535 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001123366.1 +1 validated p.F122 0.000 144 0% 46 10.9% - - - - - NULL CDH7 1005 genome.wustl.edu 37 18 63430078 63430078 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000397966 +1 known e1-1 1.000 289 0% 132 32.6% - - - - - - CDH7 1005 genome.wustl.edu 37 18 63477204 63477204 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004361.2 +1 reviewed p.T159A 0.998 69 0% 33 24.2% - - benign(0.006) tolerated(0.5) neutral(0.010) HMMPfam_Cadherin,superfamily_Cadherin-like CDH19 28513 genome.wustl.edu 37 18 64176456 64176456 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021153.2 -1 reviewed p.R535I 0.479 337 0% 158 31% - - possibly_damaging(0.703) deleterious(0) deleterious(0.697) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CCDC102B 79839 genome.wustl.edu 37 18 66504023 66504023 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001093729.1 +1 validated p.R8Q 0.004 87 0% 38 34.2% - - benign(0.035) tolerated(0.07) neutral(0.321) NULL RTTN 25914 genome.wustl.edu 37 18 67727116 67727116 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173630.3 -1 validated p.R1637Q 0.000 362 0% 149 25.5% - - benign(0.026) tolerated(0.46) neutral(0.013) NULL RTTN 25914 genome.wustl.edu 37 18 67776920 67776920 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173630.3 -1 validated p.T1239 0.219 92 0% 61 36.1% - - - - - NULL RTTN 25914 genome.wustl.edu 37 18 67795672 67795672 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173630.3 -1 validated p.R1022I 1.000 237 0% 113 36.3% - - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL NETO1 81832 genome.wustl.edu 37 18 70526289 70526289 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138966.2 -1 reviewed p.E81* 1.000 152 0% 99 41.4% - - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain FBXO15 201456 genome.wustl.edu 37 18 71796800 71796800 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142958.1 -1 reviewed p.E209* 0.987 173 0% 100 38% - - - - - NULL ZNF407 55628 genome.wustl.edu 37 18 72347341 72347341 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017757.2 +1 reviewed p.E1456K 1.000 179 0% 116 30.2% - - probably_damaging(0.998) tolerated(0.5) deleterious(0.484) HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TSHZ1 10194 genome.wustl.edu 37 18 72999756 72999756 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005786.4 +1 reviewed p.I753 1.000 58 0% 49 40.8% - - - - - NULL TSHZ1 10194 genome.wustl.edu 37 18 72999842 72999842 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005786.4 +1 reviewed p.S782L 0.000 70 0% 37 43.2% - - benign(0.026) deleterious(0.02) neutral(0.384) NULL C18orf62 284274 genome.wustl.edu 37 18 73130745 73130745 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001037331.2 -1 provisional p.R86* 0.004 275 0% 118 39.8% - - - - - NULL FLJ44881 400661 genome.wustl.edu 37 18 74402211 74402211 + RNA SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_039919.1 +1 model NULL 0.000 169 0.6% 127 30.7% - - - - - - MBP 4155 genome.wustl.edu 37 18 74817195 74817195 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001025101.1 -1 reviewed p.R8Q 0.178 325 0% 222 33.3% - - possibly_damaging(0.867) deleterious(0.01) deleterious(0.742) NULL SALL3 27164 genome.wustl.edu 37 18 76753955 76753955 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_171999.2 +1 validated p.S655L 1.000 40 0% 15 26.7% - - possibly_damaging(0.808) tolerated(0.13) deleterious(0.556) NULL HCN2 610 genome.wustl.edu 37 19 603748 603748 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001194.3 +1 validated p.P279 0.998 243 0% 163 39.3% - - - - - HMMPfam_Ion_trans,superfamily_SSF81324 POLRMT 5442 genome.wustl.edu 37 19 622853 622853 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005035.3 -1 reviewed p.D475N 0.037 18 0% 20 40% - - benign(0.008) tolerated(0.61) neutral(0.004) superfamily_SSF56672 C19orf21 126353 genome.wustl.edu 37 19 758522 758522 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173481.2 +1 predicted p.W526G 0.046 62 0% 49 44.9% - - possibly_damaging(0.85) deleterious(0) deleterious(0.772) NULL AZU1 566 genome.wustl.edu 37 19 829698 829698 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001700.3 +1 reviewed p.L118 0.829 50 0% 53 41.5% - - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys C19orf6 91304 genome.wustl.edu 37 19 1011891 1011891 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001033026.1 -1 validated p.F314 0.963 16 0% 16 31.2% - - - - - HMMPfam_Membralin ABCA7 10347 genome.wustl.edu 37 19 1046292 1046292 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019112.3 +1 reviewed p.F503 1.000 49 0% 38 10.5% - - - - - NULL ABCA7 10347 genome.wustl.edu 37 19 1062225 1062225 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019112.3 +1 reviewed p.S1875 0.619 25 4% 23 26.1% - - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases HMHA1 23526 genome.wustl.edu 37 19 1074182 1074182 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012292.2 +1 validated p.K290N 1.000 32 0% 22 36.4% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_FCH HMHA1 23526 genome.wustl.edu 37 19 1080778 1080778 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012292.2 +1 validated p.F670 0.635 54 0% 42 35.7% - - - - - NULL MIDN 90007 genome.wustl.edu 37 19 1254477 1254477 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_177401.4 +1 validated p.E232 1.000 43 0% 35 42.9% - - - - - NULL EFNA2 1943 genome.wustl.edu 37 19 1298553 1298553 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001405.2 +1 reviewed p.A153V 0.998 88 0% 54 37% - - possibly_damaging(0.917) tolerated(0.31) neutral(0.395) HMMPfam_Ephrin,superfamily_Cupredoxin MUM1 84939 genome.wustl.edu 37 19 1358458 1358458 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032853.3 +1 validated p.S71L 0.000 375 0% 190 36.3% - - benign(0.147) tolerated(1) neutral(0.013) NULL DAZAP1 26528 genome.wustl.edu 37 19 1418718 1418718 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018959.2 +1 reviewed p.P97 0.220 95 0% 64 15.6% - - - - - NULL TCF3 6929 genome.wustl.edu 37 19 1611810 1611810 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003200.2 -1 validated p.R621* 0.127 103 1% 45 26.7% - - - - - NULL ATP8B3 148229 genome.wustl.edu 37 19 1783130 1783130 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138813.2 -1 reviewed p.G1267V 0.998 238 0% 141 28.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM108A1 81926 genome.wustl.edu 37 19 1877520 1877520 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031213.3 -1 validated p.D283N 1.000 30 0% 22 36.4% - - benign(0.09) deleterious(0) neutral(0.451) HMMPfam_Abhydrolase_2,superfamily_alpha/beta-Hydrolases FAM108A1 81926 genome.wustl.edu 37 19 1881308 1881308 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031213.3 -1 validated p.I86 0.758 62 0% 51 41.2% - - - - - PatternScan_TONB_DEPENDENT_REC_1 BTBD2 55643 genome.wustl.edu 37 19 1987554 1987554 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017797.3 -1 reviewed p.R376C 1.000 50 0% 28 32.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PHR OAZ1 4946 genome.wustl.edu 37 19 2272753 2272753 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004152.2 +1 reviewed p.F162I 1.000 35 0% 25 32% - - possibly_damaging(0.48) deleterious(0) deleterious(0.604) HMMPfam_ODC_AZ,PatternScan_ODC_AZ ZNF556 80032 genome.wustl.edu 37 19 2877980 2877980 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024967.1 +1 provisional p.P342S 0.071 97 0% 65 43.1% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_SSF57667 ZNF77 58492 genome.wustl.edu 37 19 2933648 2933648 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021217.2 -1 validated p.E493K 0.036 401 0% 273 36.3% - - benign(0.093) tolerated(0.65) neutral(0.010) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 C19orf71 100128569 genome.wustl.edu 37 19 3543677 3543677 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135580.1 +1 validated p.Y149 0.041 140 0% 108 38.9% - - - - - NULL HMG20B 10362 genome.wustl.edu 37 19 3578077 3578077 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006339.2 +1 validated p.V303I 0.626 26 0% 10 40% - - unknown(0) - - NULL PIP5K1C 23396 genome.wustl.edu 37 19 3638918 3638918 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012398.1 -1 reviewed p.S628 0.023 46 0% 30 33.3% - - - - - NULL PIP5K1C 23396 genome.wustl.edu 37 19 3645984 3645984 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012398.1 -1 reviewed p.R445W 1.000 154 0% 74 21.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MATK 4145 genome.wustl.edu 37 19 3778561 3778561 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002378.3 -1 reviewed p.F411 0.939 229 0.9% 117 38.5% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like MATK 4145 genome.wustl.edu 37 19 3778594 3778594 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002378.3 -1 reviewed e12-1 1.000 197 0% 104 13.5% - - - - - - ATCAY 85300 genome.wustl.edu 37 19 3913765 3913765 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033064.4 +1 reviewed p.F292L 1.000 208 0% 118 15.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00516,superfamily_CRAL/TRIO domain MIR637 693222 genome.wustl.edu 37 19 3961437 3961437 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000385000 -1 known NULL 0.000 67 0% 39 38.5% - - - - - - DAPK3 1613 genome.wustl.edu 37 19 3964315 3964315 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001348.1 -1 reviewed p.I160 0.983 156 0% 84 31% - - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase DAPK3 1613 genome.wustl.edu 37 19 3964675 3964675 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001348.1 -1 reviewed p.G126D 1.000 91 0% 73 42.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase EEF2 1938 genome.wustl.edu 37 19 3976618 3976618 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001961.3 -1 reviewed p.E837 1.000 55 0% 58 36.2% - - - - - superfamily_EF-G C-terminal domain-like EEF2 1938 genome.wustl.edu 37 19 3982293 3982293 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001961.3 -1 reviewed p.E248K 1.000 246 0% 171 26.3% - - benign(0.025) tolerated(0.16) neutral(0.060) HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases ZBTB7A 51341 genome.wustl.edu 37 19 4047884 4047884 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015898.2 -1 validated p.E541K 0.998 66 0% 27 48.1% - - unknown(0) deleterious(0.01) - NULL CREB3L3 84699 genome.wustl.edu 37 19 4159727 4159727 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032607.1 +1 provisional p.R175Q 0.000 75 0% 47 42.6% - - benign(0.166) tolerated(0.12) neutral(0.276) NULL ANKRD24 170961 genome.wustl.edu 37 19 4212566 4212566 + Splice_Site SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000262969 +1 known e9-1 0.000 259 0% 126 34.1% - - - - - - ANKRD24 170961 genome.wustl.edu 37 19 4222673 4222673 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133475.1 +1 provisional p.E1060* 1.000 93 0% 49 28.6% - - - - - NULL DPP9 91039 genome.wustl.edu 37 19 4683627 4683627 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139159.4 -1 reviewed p.I731 0.958 69 0% 50 34% - - - - - HMMPfam_Peptidase_S9,superfamily_SSF53474 DPP9 91039 genome.wustl.edu 37 19 4685732 4685732 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139159.4 -1 reviewed p.S646L 0.066 105 0% 70 11.4% - - possibly_damaging(0.594) deleterious(0.01) deleterious(0.611) superfamily_SSF53474 FEM1A 55527 genome.wustl.edu 37 19 4793540 4793540 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018708.2 +1 validated p.F558L 1.000 88 1.1% 82 24.4% - - possibly_damaging(0.946) tolerated(0.1) deleterious(0.676) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK TICAM1 148022 genome.wustl.edu 37 19 4817174 4817174 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182919.2 -1 validated p.E406K 0.997 126 0.8% 74 25.7% - - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL TICAM1 148022 genome.wustl.edu 37 19 4817925 4817925 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000343192 -1 known p.S15Y 0.004 50 0% 46 41.3% - - - - - NULL ARRDC5 645432 genome.wustl.edu 37 19 4891366 4891366 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080523.1 -1 provisional p.R241W 0.412 142 0% 118 30.5% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Arrestin_C,superfamily_E set domains PTPRS 5802 genome.wustl.edu 37 19 5220022 5220022 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002850.3 -1 reviewed p.F1231 0.940 51 2% 30 40% - - - - - NULL HSD11B1L 374875 genome.wustl.edu 37 19 5687545 5687545 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198533.1 +1 provisional p.Y178* 0.937 32 0% 39 20.5% - - - - - HMMPfam_adh_short,PatternScan_ADH_SHORT,superfamily_NAD(P)-binding Rossmann-fold domains LONP1 9361 genome.wustl.edu 37 19 5699086 5699086 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004793.2 -1 reviewed p.R546H 1.000 38 0% 13 38.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 DUS3L 56931 genome.wustl.edu 37 19 5789285 5789285 + Missense_Mutation SNP G G C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020175.2 -1 validated p.P278R 0.002 12 0% 10 50% - - benign(0.008) tolerated(0.33) neutral(0.024) NULL FUT6 2528 genome.wustl.edu 37 19 5831838 5831838 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000150.2 -1 reviewed p.E247D 1.000 289 0% 192 35.4% - - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_Glyco_transf_10 ACSBG2 81616 genome.wustl.edu 37 19 6183263 6183263 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030924.3 +1 validated p.Q434H 0.000 190 0% 66 27.3% - - benign(0.006) tolerated(0.08) neutral(0.300) HMMPfam_AMP-binding,superfamily_SSF56801 ACSBG2 81616 genome.wustl.edu 37 19 6187825 6187825 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030924.3 +1 validated p.E632D 0.973 296 0% 180 30.6% - - benign(0.002) tolerated(0.42) neutral(0.014) superfamily_SSF56801 GTF2F1 2962 genome.wustl.edu 37 19 6391942 6391942 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002096.2 -1 validated p.D35N 1.000 666 0% 406 39.9% - - probably_damaging(0.992) tolerated(0.46) neutral(0.460) HMMPfam_TFIIF_alpha,superfamily_Rap30/74 interaction domains KHSRP 8570 genome.wustl.edu 37 19 6418013 6418013 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003685.2 -1 validated p.S319 0.394 138 0% 99 38.4% - - - - - superfamily_Eukaryotic type KH-domain (KH-domain type I) DENND1C 79958 genome.wustl.edu 37 19 6468353 6468353 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024898.2 -1 validated p.S561 0.379 166 0% 115 34.8% - - - - - NULL DENND1C 79958 genome.wustl.edu 37 19 6471463 6471463 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024898.2 -1 validated p.F401L 0.622 141 0% 101 36.6% - - probably_damaging(0.965) tolerated(0.09) deleterious(0.704) NULL DENND1C 79958 genome.wustl.edu 37 19 6480028 6480028 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024898.2 -1 validated p.E18K 1.000 184 0% 106 32.1% - - possibly_damaging(0.435) deleterious(0.05) deleterious(0.487) HMMPfam_uDENN,HMMSmart_uDENN C3 718 genome.wustl.edu 37 19 6690717 6690717 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000064.2 -1 reviewed p.E1138K 0.956 218 0% 145 41.4% - - probably_damaging(0.975) tolerated(0.05) deleterious(0.762) superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp C3 718 genome.wustl.edu 37 19 6694485 6694485 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000064.2 -1 reviewed p.F1037 0.076 207 0.5% 86 41.9% - - - - - superfamily_Terpenoid cyclases/Protein prenyltransferases C3 718 genome.wustl.edu 37 19 6696399 6696399 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000064.2 -1 reviewed p.L981I 0.770 213 0% 157 35.7% - - benign(0) tolerated(0.4) neutral(0.016) NULL C3 718 genome.wustl.edu 37 19 6697783 6697783 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000064.2 -1 reviewed p.F821 0.923 75 0% 56 46.4% - - - - - HMMPfam_A2M GPR108 56927 genome.wustl.edu 37 19 6733610 6733610 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080452.1 -1 provisional p.P232S 0.003 196 0% 128 40.6% - - probably_damaging(0.999) tolerated(0.13) deleterious(0.743) HMMPfam_Lung_7-TM_R TRIP10 9322 genome.wustl.edu 37 19 6741291 6741291 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004240.2 +1 validated p.K66E 1.000 298 0% 119 36.1% - - benign(0.003) tolerated(0.56) neutral(0.006) HMMPfam_FCH,HMMSmart_SM00055 TRIP10 9322 genome.wustl.edu 37 19 6746539 6746539 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004240.2 +1 validated p.R354H 0.046 212 0% 93 34.4% - - probably_damaging(0.984) deleterious(0.01) deleterious(0.836) NULL TRIP10 9322 genome.wustl.edu 37 19 6750544 6750544 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004240.2 +1 validated p.E463D 0.791 217 0% 115 28.7% - - benign(0) tolerated(0.15) neutral(0.241) superfamily_SH3-domain VAV1 7409 genome.wustl.edu 37 19 6772993 6772993 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005428.2 +1 reviewed p.E59* 0.999 103 0% 66 43.9% - - - - - HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology VAV1 7409 genome.wustl.edu 37 19 6820782 6820782 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005428.2 +1 reviewed p.E92K 0.996 304 0% 171 31.6% - - possibly_damaging(0.599) deleterious(0.01) deleterious(0.613) HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology EMR1 2015 genome.wustl.edu 37 19 6908735 6908735 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001974.3 +1 reviewed p.S358 0.000 339 0% 186 38.2% - - - - - superfamily_Family A G protein-coupled receptor-like ENSG00000182315 0 genome.wustl.edu 37 19 7058574 7058574 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000333843 -1 known p.L15M 0.030 1024 0% 525 12.2% - - probably_damaging(0.996) tolerated(0.13) deleterious(0.714) NULL ZNF557 79230 genome.wustl.edu 37 19 7081448 7081448 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001044387.1 +1 validated p.L109I 0.004 212 0% 105 31.4% - - benign(0.019) tolerated(0.49) neutral(0.011) NULL INSR 3643 genome.wustl.edu 37 19 7166226 7166226 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000208.2 -1 reviewed p.S600 1.000 233 0% 112 28.6% - - - - - HMMSmart_SM00060,superfamily_Fibronectin type III INSR 3643 genome.wustl.edu 37 19 7174603 7174603 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000208.2 -1 reviewed p.R372* 1.000 132 0% 94 35.1% - - - - - HMMPfam_Recep_L_domain,superfamily_L domain-like C19orf45 374877 genome.wustl.edu 37 19 7573220 7573220 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198534.2 +1 validated p.F474 0.001 70 0% 47 36.2% - - - - - NULL MCOLN1 57192 genome.wustl.edu 37 19 7589945 7589945 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020533.2 +1 reviewed p.R44C 0.988 55 0% 30 20% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MCOLN1 57192 genome.wustl.edu 37 19 7592790 7592790 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020533.2 +1 reviewed p.N241H 1.000 125 0% 73 28.8% - - probably_damaging(1) tolerated(0.12) deleterious(0.760) NULL CAMSAP3 57662 genome.wustl.edu 37 19 7676636 7676636 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080429.2 +1 validated p.V446 0.993 24 0% 23 34.8% - - - - - NULL CAMSAP3 57662 genome.wustl.edu 37 19 7682267 7682267 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080429.2 +1 validated p.R1117W 0.039 227 0% 115 41.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL XAB2 56949 genome.wustl.edu 37 19 7690780 7690780 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020196.2 -1 validated p.G270S 1.000 85 0% 71 28.2% - - possibly_damaging(0.523) deleterious(0.04) deleterious(0.525) HMMSmart_HAT,superfamily_SSF48452 CLEC4M 10332 genome.wustl.edu 37 19 7832459 7832459 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014257.4 +1 reviewed p.D332Y 0.060 387 0% 228 36.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like TIMM44 10469 genome.wustl.edu 37 19 7992125 7992125 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006351.3 -1 validated p.A436T 0.998 25 0% 20 25% - - benign(0.431) tolerated(0.05) deleterious(0.486) HMMPfam_Tim44 TIMM44 10469 genome.wustl.edu 37 19 7992140 7992140 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006351.3 -1 validated p.E431K 1.000 23 0% 24 33.3% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Tim44 ELAVL1 1994 genome.wustl.edu 37 19 8046030 8046030 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001419.2 -1 reviewed p.A71 0.661 283 0% 165 37.6% - - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD FBN3 84467 genome.wustl.edu 37 19 8136955 8136955 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032447.3 -1 reviewed p.R2689C 0.827 68 0% 59 11.9% - - possibly_damaging(0.836) deleterious(0.01) deleterious(0.725) NULL FBN3 84467 genome.wustl.edu 37 19 8136997 8136997 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032447.3 -1 reviewed p.E2675K 1.000 83 0% 70 25.7% - - benign(0.003) deleterious(0.04) neutral(0.349) NULL PRAM1 84106 genome.wustl.edu 37 19 8563567 8563567 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032152.3 -1 reviewed p.F375 0.000 18 0% 14 50% - - - - - NULL PRAM1 84106 genome.wustl.edu 37 19 8563890 8563890 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032152.3 -1 reviewed p.A268T 0.000 72 0% 40 30% - - benign(0) tolerated(0.57) neutral(0.006) NULL MYO1F 4542 genome.wustl.edu 37 19 8595191 8595191 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012335.3 -1 validated p.F739 0.323 118 0% 88 33% - - - - - HMMPfam_Myosin_TH1 MYO1F 4542 genome.wustl.edu 37 19 8612995 8612995 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012335.3 -1 validated p.F398 1.000 170 0% 110 38.2% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ADAMTS10 81794 genome.wustl.edu 37 19 8651313 8651313 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030957.2 -1 reviewed p.F815L 1.000 36 0% 34 41.2% - - probably_damaging(0.957) deleterious(0.01) deleterious(0.806) HMMPfam_ADAM_spacer1 ADAMTS10 81794 genome.wustl.edu 37 19 8660742 8660742 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030957.2 -1 reviewed p.D461E 1.000 92 0% 67 49.3% - - benign(0.336) tolerated(1) neutral(0.106) NULL ACTL9 284382 genome.wustl.edu 37 19 8808649 8808649 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178525.3 -1 validated p.H135N 1.000 19 0% 27 22.2% - - benign(0.001) tolerated(1) - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain ZNF558 148156 genome.wustl.edu 37 19 8922677 8922677 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144693.1 -1 provisional p.T163 0.000 119 0% 73 38.4% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MUC16 94025 genome.wustl.edu 37 19 9028332 9028332 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024690.2 -1 validated p.D12154Y 0.002 309 0% 256 15.6% - - possibly_damaging(0.539) - - HMMPfam_SEA,HMMSmart_SM00200,superfamily_SEA domain MUC16 94025 genome.wustl.edu 37 19 9049655 9049655 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024690.2 -1 validated p.S10659L 0.000 530 0% 297 31.6% - - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9058397 9058397 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024690.2 -1 validated p.M9683I 0.000 557 0% 286 40.2% - - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9060595 9060595 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024690.2 -1 validated p.E8951* 0.000 276 0% 192 35.9% - - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9065243 9065243 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024690.2 -1 validated p.M7401I 0.000 329 0% 206 38.3% - - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9076796 9076796 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024690.2 -1 validated p.I3550 0.000 743 0% 448 33% - - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9077446 9077446 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024690.2 -1 validated p.E3334* 0.000 251 0% 174 35.6% - - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9083110 9083110 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024690.2 -1 validated p.T2902N 0.000 317 0% 153 31.4% - - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9084596 9084596 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024690.2 -1 validated p.L2407F 0.117 462 0% 227 36.6% - - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9088279 9088279 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024690.2 -1 validated p.S1179N 0.001 594 0% 315 38.7% - - unknown(0) - - NULL OR7G3 390883 genome.wustl.edu 37 19 9237596 9237596 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001958.1 -1 provisional p.E11* 0.129 269 0% 112 29.5% - - - - - superfamily_SSF81321 ZNF317 57693 genome.wustl.edu 37 19 9269581 9269581 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020933.3 +1 provisional p.T155 0.013 366 0% 227 29.5% - - - - - NULL ZNF317 57693 genome.wustl.edu 37 19 9271632 9271632 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020933.3 +1 provisional p.M437I 0.886 169 0% 83 39.8% - - possibly_damaging(0.612) deleterious(0.03) deleterious(0.577) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers OR7E24 26648 genome.wustl.edu 37 19 9361785 9361785 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079935.1 +1 provisional p.Q22H 0.000 128 0% 92 40.2% - - benign(0.022) deleterious(0.05) neutral(0.346) superfamily_Family A G protein-coupled receptor-like ZNF699 374879 genome.wustl.edu 37 19 9407512 9407512 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198535.1 -1 provisional p.T190A 0.004 168 0.6% 84 38.1% - - benign(0.32) tolerated(0.07) neutral(0.419) superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9577485 9577485 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152476.2 -1 validated p.K713R 0.005 246 0% 141 38.3% - - probably_damaging(0.957) tolerated(0.38) neutral(0.418) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9579006 9579006 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152476.2 -1 validated p.R206I 0.141 115 0% 62 33.9% - - probably_damaging(0.994) tolerated(0.19) deleterious(0.502) NULL ZNF560 147741 genome.wustl.edu 37 19 9580365 9580365 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152476.2 -1 validated p.S157I 0.535 294 0% 113 29.2% - - possibly_damaging(0.948) tolerated(0.08) deleterious(0.691) HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF121 7675 genome.wustl.edu 37 19 9676906 9676906 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008727.2 -1 validated p.V295I 0.000 281 0% 160 36.9% - - possibly_damaging(0.499) tolerated(0.37) neutral(0.185) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF121 7675 genome.wustl.edu 37 19 9677126 9677126 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008727.2 -1 validated p.I221M 0.035 140 0% 97 23.7% - - possibly_damaging(0.86) deleterious(0.02) deleterious(0.716) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF812 729648 genome.wustl.edu 37 19 9801763 9801763 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001726949.2 -1 model p.F66C 0.176 313 0% 151 13.9% - - possibly_damaging(0.553) tolerated(1) neutral(0.189) NULL ZNF846 162993 genome.wustl.edu 37 19 9873983 9873983 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077624.1 -1 validated p.E39D 0.999 319 0% 181 38.7% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) RDH8 50700 genome.wustl.edu 37 19 10131437 10131437 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015725.2 +1 validated p.F165L 1.000 241 0% 140 38.6% - - probably_damaging(0.999) tolerated(0.93) deleterious(0.490) HMMPfam_adh_short,PatternScan_ADH_SHORT,superfamily_NAD(P)-bd PPAN-P2RY11 692312 genome.wustl.edu 37 19 10221404 10221404 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040664.1 +1 validated p.R355W 0.005 112 0% 45 48.9% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL DNMT1 1786 genome.wustl.edu 37 19 10254465 10254465 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001130823.1 -1 reviewed p.K1031N 1.000 301 0% 223 30.9% - - possibly_damaging(0.598) tolerated(0.15) neutral(0.448) HMMPfam_BAH,HMMSmart_SM00439 ZGLP1 100125288 genome.wustl.edu 37 19 10418999 10418999 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001103167.1 -1 validated p.S120L 0.000 74 0% 53 30.2% - - benign(0.082) tolerated(0.18) neutral(0.062) NULL KRI1 65095 genome.wustl.edu 37 19 10672385 10672385 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023008.3 -1 validated p.S155L 0.000 277 0% 157 23.6% - - benign(0.002) tolerated(0.19) neutral(0.050) NULL LDLR 3949 genome.wustl.edu 37 19 11215934 11215934 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000527.3 +1 reviewed p.D118N 0.599 44 0% 40 35% - - benign(0.001) tolerated(0.66) neutral(0.003) HMMPfam_Ldl_recept_a,HMMSmart_SM00192,superfamily_LDL receptor-like module DOCK6 57572 genome.wustl.edu 37 19 11327765 11327765 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020812.2 -1 validated p.R1240H 1.000 59 0% 32 18.8% - - probably_damaging(0.993) tolerated(0.07) deleterious(0.769) NULL EPOR 2057 genome.wustl.edu 37 19 11494874 11494874 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000121.3 -1 reviewed p.L4I 0.001 16 0% 18 33.3% - - benign(0.167) deleterious(0.04) neutral(0.364) NULL PRKCSH 5589 genome.wustl.edu 37 19 11559370 11559370 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002743.2 +1 reviewed p.E397D 1.000 183 0% 149 32.2% - - probably_damaging(0.998) tolerated(0.27) deleterious(0.508) superfamily_Man6php_recept PRKCSH 5589 genome.wustl.edu 37 19 11560204 11560204 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002743.2 +1 reviewed p.E522K 0.000 30 0% 17 29.4% - - benign(0.26) tolerated(0.58) neutral(0.032) NULL ACP5 54 genome.wustl.edu 37 19 11687622 11687622 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001111034.1 -1 reviewed p.R100C 0.012 285 0% 177 19.2% - - possibly_damaging(0.625) tolerated(0.19) neutral(0.268) HMMPfam_Metallophos,superfamily_SSF56300 ZNF627 199692 genome.wustl.edu 37 19 11725643 11725643 + Silent SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145295.3 +1 validated p.G44 0.078 61 0% 40 37.5% - - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF627 199692 genome.wustl.edu 37 19 11728202 11728202 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145295.3 +1 validated p.R295Q 0.000 201 0% 132 38.6% - - possibly_damaging(0.545) tolerated(0.88) neutral(0.185) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF627 199692 genome.wustl.edu 37 19 11728550 11728550 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145295.3 +1 validated p.R411I 0.149 128 0% 83 12% - - benign(0.254) deleterious(0.01) neutral(0.432) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF823 55552 genome.wustl.edu 37 19 11832709 11832709 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080493.2 -1 validated p.R547I 1.000 306 0% 236 33.1% - - benign(0.055) tolerated(0.06) neutral(0.326) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF823 55552 genome.wustl.edu 37 19 11833054 11833054 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080493.2 -1 validated p.R432Q 0.004 235 0% 182 41.2% - - benign(0.171) tolerated(0.54) neutral(0.023) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF823 55552 genome.wustl.edu 37 19 11833579 11833579 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080493.2 -1 validated p.F257S 0.832 437 0% 319 38.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF491 126069 genome.wustl.edu 37 19 11917795 11917795 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152356.3 +1 validated p.R343* 0.004 196 0% 125 31.2% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF491 126069 genome.wustl.edu 37 19 11917976 11917976 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152356.3 +1 validated p.R403I 0.001 157 0% 84 32.1% - - possibly_damaging(0.831) deleterious(0.04) deleterious(0.665) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF69 7620 genome.wustl.edu 37 19 12016011 12016011 + Missense_Mutation SNP G G A rs190127307 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000429654 +1 known p.E267K 0.125 226 0.9% 153 32% - - benign(0.001) tolerated(0.5) neutral(0.010) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF69 7620 genome.wustl.edu 37 19 12016861 12016861 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000429654 +1 known p.R550Q 0.000 183 0% 103 35% - - benign(0.066) tolerated(1) neutral(0.004) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF700 90592 genome.wustl.edu 37 19 12060493 12060493 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144566.1 +1 provisional p.R552* 0.033 293 0% 207 30.4% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF763 284390 genome.wustl.edu 37 19 12089265 12089265 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012753.1 +1 validated p.E179* 0.193 307 0% 175 30.3% - - - - - HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF433 163059 genome.wustl.edu 37 19 12126425 12126425 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080411.1 -1 provisional p.E419D 1.000 239 0% 169 39.1% - - probably_damaging(0.967) tolerated(0.06) deleterious(0.732) superfamily_C2H2 and C2HC zinc fingers ZNF433 163059 genome.wustl.edu 37 19 12126693 12126693 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080411.1 -1 provisional p.R330I 0.990 210 0% 123 13% - - benign(0.069) tolerated(0.08) neutral(0.304) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF878 729747 genome.wustl.edu 37 19 12154972 12154972 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080404.1 -1 inferred p.R462Q 0.041 211 0% 159 35.8% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF878 729747 genome.wustl.edu 37 19 12155296 12155296 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080404.1 -1 inferred p.G354E 1.000 229 0.4% 168 38.1% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_C2H2 and C2HC zinc fingers ZNF878 729747 genome.wustl.edu 37 19 12155460 12155460 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080404.1 -1 inferred p.E299 1.000 331 0% 211 33.2% - - - - - superfamily_C2H2 and C2HC zinc fingers ZNF878 729747 genome.wustl.edu 37 19 12157527 12157527 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080404.1 -1 inferred p.W65R 0.997 454 0% 281 31.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF844 284391 genome.wustl.edu 37 19 12187738 12187738 + Silent SNP C C T rs144932544 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136501.1 +1 provisional p.F601 0.000 274 0% 157 35.7% - - - - - NULL ENSG00000188474 0 genome.wustl.edu 37 19 12222823 12222823 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000339302 +1 known p.S154Y 0.001 42 0% 22 31.8% - - benign(0.059) tolerated(1) neutral(0.004) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ENSG00000188474 0 genome.wustl.edu 37 19 12223747 12223747 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000339302 +1 known p.R462Q 0.000 64 0% 50 26% - - benign(0.26) tolerated(0.69) neutral(0.029) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF625 90589 genome.wustl.edu 37 19 12256527 12256527 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145233.2 -1 provisional p.R169Q 0.003 388 0% 262 35.5% - - possibly_damaging(0.594) tolerated(0.66) neutral(0.207) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF625 90589 genome.wustl.edu 37 19 12256599 12256599 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145233.2 -1 provisional p.R145Q 0.156 323 0% 203 37.9% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF136 7695 genome.wustl.edu 37 19 12297518 12297518 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003437.2 +1 validated p.E109* 0.154 457 0% 190 33.7% - - - - - NULL ZNF136 7695 genome.wustl.edu 37 19 12297618 12297618 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003437.2 +1 validated p.R142H 0.011 330 0% 199 12.6% - - benign(0.23) tolerated(0.65) neutral(0.026) superfamily_SSF57667 ZNF136 7695 genome.wustl.edu 37 19 12298584 12298584 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003437.2 +1 validated p.R464Q 0.000 274 0% 153 32% - - possibly_damaging(0.739) tolerated(1) neutral(0.271) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF44 51710 genome.wustl.edu 37 19 12383954 12383954 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016264.3 -1 validated p.K372N 0.049 329 0% 202 17.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF44 51710 genome.wustl.edu 37 19 12384031 12384031 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016264.3 -1 validated p.D347Y 0.001 378 0% 236 36.4% - - probably_damaging(0.995) tolerated(0.43) deleterious(0.471) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF44 51710 genome.wustl.edu 37 19 12384095 12384095 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016264.3 -1 validated p.Q325 0.000 395 0% 256 34.4% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF799 90576 genome.wustl.edu 37 19 12501619 12501619 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080821.1 -1 validated p.P531 0.009 403 0.2% 290 31.4% - - - - - superfamily_C2H2 and C2HC zinc fingers ZNF709 163051 genome.wustl.edu 37 19 12574841 12574841 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152601.3 -1 validated p.R632Q 0.000 259 0% 186 24.7% - - benign(0.029) tolerated(0.71) neutral(0.003) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF709 163051 genome.wustl.edu 37 19 12575333 12575333 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152601.3 -1 validated p.R468I 0.000 268 0% 189 46% - - possibly_damaging(0.894) tolerated(0.2) neutral(0.401) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF709 163051 genome.wustl.edu 37 19 12575417 12575417 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152601.3 -1 validated p.R440M 0.002 271 0.4% 198 32.8% - - probably_damaging(0.96) deleterious(0.02) deleterious(0.786) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF709 163051 genome.wustl.edu 37 19 12576089 12576089 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152601.3 -1 validated p.R216I 0.014 307 0% 195 31.8% - - benign(0.368) deleterious(0.04) neutral(0.466) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF564 163050 genome.wustl.edu 37 19 12637317 12637317 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144976.3 -1 validated p.K535N 0.000 245 0% 199 32.2% - - possibly_damaging(0.811) tolerated(0.16) neutral(0.365) NULL ZNF564 163050 genome.wustl.edu 37 19 12638453 12638453 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144976.3 -1 validated p.R157* 0.101 362 0% 220 20.5% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF791 163049 genome.wustl.edu 37 19 12735514 12735514 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153358.2 +1 validated p.R61* 0.001 189 0% 65 27.7% - - - - - HMMSmart_KRAB DHPS 1725 genome.wustl.edu 37 19 12786878 12786878 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001930.2 -1 reviewed p.E323K 1.000 82 0% 50 44% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DS,superfamily_DHS-like NAD/FAD-binding domain TNPO2 30000 genome.wustl.edu 37 19 12812468 12812468 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136196.1 -1 validated p.D844N 1.000 91 0% 60 28.3% - - possibly_damaging(0.684) tolerated(0.31) neutral(0.271) superfamily_ARM repeat BEST2 54831 genome.wustl.edu 37 19 12866240 12866240 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017682.2 +1 reviewed p.D228E 1.000 413 0% 234 36.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Bestrophin RNASEH2A 10535 genome.wustl.edu 37 19 12918027 12918027 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006397.2 +1 reviewed p.K69N 1.000 567 0% 304 36.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RNase_HII,superfamily_Ribonuclease H-like FARSA 2193 genome.wustl.edu 37 19 13035595 13035595 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004461.2 -1 validated p.F351L 1.000 186 0% 152 34.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_2d,superfamily_Class II aaRS and biotin synthetases CACNA1A 773 genome.wustl.edu 37 19 13368351 13368351 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127222.1 -1 reviewed p.S1468L 1.000 375 0.3% 205 35.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1A 773 genome.wustl.edu 37 19 13428087 13428087 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127222.1 -1 reviewed p.S465L 1.000 130 0% 66 40.9% - - benign(0.085) tolerated(0.11) neutral(0.278) NULL CCDC130 81576 genome.wustl.edu 37 19 13868235 13868235 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030818.2 +1 provisional p.F48 0.974 143 0% 110 30.9% - - - - - HMMPfam_DUF572 C19orf57 79173 genome.wustl.edu 37 19 14000019 14000019 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024323.3 -1 predicted p.F550 0.000 32 0% 26 46.2% - - - - - NULL RFX1 5989 genome.wustl.edu 37 19 14076532 14076532 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002918.4 -1 validated p.F673 0.995 138 0% 97 40.2% - - - - - NULL PALM3 342979 genome.wustl.edu 37 19 14165241 14165241 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145028.1 -1 validated p.E400* 0.001 851 0% 535 63.9% - - - - - NULL ENSG00000248045 0 genome.wustl.edu 37 19 14281668 14281668 + RNA SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000498856 +1 novel NULL 0.001 34 0% 28 39.3% - - - - - - CD97 976 genome.wustl.edu 37 19 14517179 14517179 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_078481.2 +1 reviewed p.H620N 1.000 109 0% 66 13.6% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like PKN1 5585 genome.wustl.edu 37 19 14578700 14578700 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_213560.1 +1 reviewed p.E639K 0.997 191 0.5% 112 35.7% - - benign(0.201) tolerated(0.13) neutral(0.272) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase DNAJB1 3337 genome.wustl.edu 37 19 14627332 14627332 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006145.1 -1 provisional p.I246 1.000 227 0% 119 37.8% - - - - - HMMPfam_DnaJ_C,superfamily_HSP40/DnaJ peptide-binding domain TECR 9524 genome.wustl.edu 37 19 14673357 14673357 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138501.4 +1 validated p.K12N 1.000 252 0% 105 41.9% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL ZNF333 84449 genome.wustl.edu 37 19 14829499 14829499 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032433.2 +1 validated p.D454Y 0.002 209 0.5% 102 45.1% - - possibly_damaging(0.732) deleterious(0) deleterious(0.712) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF333 84449 genome.wustl.edu 37 19 14829800 14829800 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032433.2 +1 validated p.R554Q 0.989 102 0% 67 35.8% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 SLC1A6 6511 genome.wustl.edu 37 19 15083691 15083691 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005071.1 -1 provisional p.R11Q 1.000 11 0% 10 40% - - possibly_damaging(0.473) tolerated(0.08) neutral(0.456) NULL CCDC105 126402 genome.wustl.edu 37 19 15124536 15124536 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173482.2 +1 validated p.S208I 0.001 467 0% 157 33.8% - - possibly_damaging(0.462) tolerated(0.15) neutral(0.392) NULL ILVBL 10994 genome.wustl.edu 37 19 15227316 15227316 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006844.3 -1 reviewed p.V402M 0.045 65 0% 41 9.8% - - benign(0.001) tolerated(0.11) neutral(0.272) HMMPfam_TPP_enzyme_M,superfamily_DHS-like NAD/FAD-binding domain NOTCH3 4854 genome.wustl.edu 37 19 15292520 15292520 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000435.2 -1 reviewed p.D887N 1.000 39 0% 36 27.8% - - possibly_damaging(0.909) tolerated(0.07) deleterious(0.681) HMMSmart_SM00179,PatternScan_EGF_CA NOTCH3 4854 genome.wustl.edu 37 19 15299971 15299971 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000435.2 -1 reviewed p.E403K 1.000 45 0% 41 29.3% - - probably_damaging(0.998) tolerated(0.06) deleterious(0.797) HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin EPHX3 79852 genome.wustl.edu 37 19 15341895 15341895 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142886.1 -1 validated p.S165L 1.000 186 0% 93 25.8% - - possibly_damaging(0.653) tolerated(0.15) deleterious(0.471) HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases EPHX3 79852 genome.wustl.edu 37 19 15342204 15342204 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142886.1 -1 validated p.F111L 1.000 76 0% 44 38.6% - - benign(0.097) deleterious(0.01) neutral(0.413) superfamily_alpha/beta-Hydrolases AKAP8 10270 genome.wustl.edu 37 19 15484701 15484701 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005858.2 -1 reviewed p.S89 0.006 158 0% 93 29% - - - - - superfamily_SSF56935 WIZ 58525 genome.wustl.edu 37 19 15533915 15533915 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021241.2 -1 validated p.A786V 1.000 92 0% 43 30.2% - - unknown(0) deleterious(0.01) - NULL WIZ 58525 genome.wustl.edu 37 19 15538309 15538309 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021241.2 -1 validated p.E189K 0.992 26 0% 15 33.3% - - probably_damaging(0.978) tolerated(0.06) deleterious(0.743) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 WIZ 58525 genome.wustl.edu 37 19 15547682 15547682 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021241.2 -1 validated p.R155H 0.838 74 0% 45 28.9% - - benign(0.004) tolerated(0.14) neutral(0.249) NULL RASAL3 64926 genome.wustl.edu 37 19 15571043 15571043 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022904.1 -1 validated p.K211N 1.000 428 0% 225 31.6% - - probably_damaging(0.959) tolerated(0.26) neutral(0.436) NULL CYP4F3 4051 genome.wustl.edu 37 19 15769171 15769171 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000896.2 +1 reviewed p.D405Y 1.000 187 0% 121 35.5% - - possibly_damaging(0.862) deleterious(0.01) deleterious(0.739) HMMPfam_p450,superfamily_Cytochrome_P450 CYP4F12 66002 genome.wustl.edu 37 19 15791204 15791204 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_023944.2 +1 reviewed p.E134* 0.668 125 0% 121 36.4% - - - - - HMMPfam_p450,superfamily_Cytochrome P450 ENSG00000225607 0 genome.wustl.edu 37 19 15881850 15881850 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000412610 -1 known p.R240K 0.940 195 0% 137 15.3% - - benign(0.002) tolerated(0.36) neutral(0.020) NULL CYP4F11 57834 genome.wustl.edu 37 19 16033229 16033229 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128932.1 -1 reviewed p.G310 0.328 592 0% 285 35.8% - - - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP4F11 57834 genome.wustl.edu 37 19 16045179 16045179 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128932.1 -1 reviewed p.V14M 0.000 72 0% 60 31.7% - - benign(0.009) tolerated(0.08) neutral(0.300) NULL HSH2D 84941 genome.wustl.edu 37 19 16268545 16268545 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032855.2 +1 provisional p.E334* 0.028 78 0% 45 15.6% - - possibly_damaging(0.459) deleterious(0.02) deleterious(0.533) NULL FAM32A 26017 genome.wustl.edu 37 19 16296498 16296498 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014077.2 +1 predicted p.K46N 1.000 251 0% 68 32.4% - - probably_damaging(0.958) tolerated(0.66) neutral(0.404) HMMPfam_DUF1754 CALR3 125972 genome.wustl.edu 37 19 16591460 16591460 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145046.3 -1 validated p.D326Y 0.999 385 0% 196 20.4% - - benign(0.149) deleterious(0.01) neutral(0.419) superfamily_ConA_like_lec_gl TMEM38A 79041 genome.wustl.edu 37 19 16791302 16791302 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024074.1 +1 provisional p.R126* 0.999 285 0% 218 19.3% - - - - - HMMPfam_DUF714 NWD1 284434 genome.wustl.edu 37 19 16910938 16910938 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001007525.2 +1 validated p.D1099G 1.000 97 0% 66 34.8% - - possibly_damaging(0.811) deleterious(0.02) deleterious(0.689) superfamily_WD40 repeat-like CPAMD8 27151 genome.wustl.edu 37 19 17010304 17010304 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000443236 -1 known p.C1668F 0.933 91 0% 63 38.1% - - - - - HMMPfam_A2M_recep,superfamily_Alpha-macroglobulin receptor domain MYO9B 4650 genome.wustl.edu 37 19 17264799 17264799 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004145.3 +1 reviewed p.L341V 0.827 267 0% 144 40.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO9B 4650 genome.wustl.edu 37 19 17273228 17273228 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004145.3 +1 reviewed p.R496 0.977 107 0% 77 15.6% - - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO9B 4650 genome.wustl.edu 37 19 17283260 17283260 + Silent SNP C C T rs142767244 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004145.3 +1 reviewed p.F636 1.000 177 0% 102 41.2% - - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 ANKLE1 126549 genome.wustl.edu 37 19 17394946 17394946 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152363.4 +1 validated p.T416M 0.927 122 0% 75 37.3% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL PLVAP 83483 genome.wustl.edu 37 19 17488069 17488069 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031310.1 -1 provisional p.S10F 0.001 68 0% 55 45.5% - - possibly_damaging(0.888) deleterious(0.01) deleterious(0.753) HMMPfam_PV-1 FAM125A 93343 genome.wustl.edu 37 19 17531415 17531415 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138401.2 +1 provisional p.F86L 0.981 125 0% 100 25% - - possibly_damaging(0.902) deleterious(0.01) deleterious(0.762) HMMPfam_DUF2464 UNC13A 23025 genome.wustl.edu 37 19 17752364 17752364 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080421.2 -1 validated p.N913S 1.000 172 0% 119 33.6% - - benign(0.023) tolerated(0.14) neutral(0.251) NULL UNC13A 23025 genome.wustl.edu 37 19 17756817 17756817 + Nonsense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080421.2 -1 validated p.Y804* 1.000 270 0% 139 34.5% - - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) MAP1S 55201 genome.wustl.edu 37 19 17836709 17836709 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018174.4 +1 validated p.F172 0.028 27 0% 12 33.3% - - - - - NULL MAP1S 55201 genome.wustl.edu 37 19 17836818 17836818 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018174.4 +1 validated p.E209K 0.937 44 0% 36 27.8% - - probably_damaging(0.975) deleterious(0.01) deleterious(0.823) NULL FCHO1 23149 genome.wustl.edu 37 19 17894972 17894972 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015122.2 +1 validated p.T718 0.238 31 0% 21 19% - - - - - NULL ARRDC2 27106 genome.wustl.edu 37 19 18119891 18119891 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015683.1 +1 validated p.V151 0.989 30 0% 33 15.2% - - - - - HMMPfam_Arrestin_N,superfamily_E set domains ARRDC2 27106 genome.wustl.edu 37 19 18120783 18120783 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015683.1 +1 validated p.R262W 1.000 7 0.000 10 0.500 - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Arrestin_C,superfamily_E set domains PIK3R2 5296 genome.wustl.edu 37 19 18277050 18277050 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005027.2 +1 validated p.E499D 1.000 120 0% 66 24.2% - - benign(0.069) deleterious(0.05) neutral(0.350) NULL PGPEP1 54858 genome.wustl.edu 37 19 18474205 18474205 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017712.2 +1 validated p.L148I 1.000 123 0% 71 29.6% - - probably_damaging(0.991) tolerated(0.13) deleterious(0.697) HMMPfam_Peptidase_C15,PatternScan_PYRASE_CYS,superfamily_Peptidase_C15-like ELL 8178 genome.wustl.edu 37 19 18569028 18569028 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006532.3 -1 validated p.R286W 0.997 76 0% 76 42.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ELL FKBP8 23770 genome.wustl.edu 37 19 18642994 18642994 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012181.3 -1 reviewed p.I409 0.939 67 0% 51 43.1% - - - - - NULL KLHL26 55295 genome.wustl.edu 37 19 18778567 18778567 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018316.1 +1 provisional p.F120 0.786 40 0% 53 28.3% - - - - - HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB CRTC1 23373 genome.wustl.edu 37 19 18888013 18888013 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098482.1 +1 validated p.E592* 1.000 33 0% 22 40.9% - - - - - NULL UPF1 5976 genome.wustl.edu 37 19 18958627 18958627 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002911.3 +1 reviewed p.G149E 1.000 303 0% 164 40.2% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_UPF1_Zn_bind COPE 11316 genome.wustl.edu 37 19 19017824 19017824 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007263.3 -1 reviewed p.D130N 1.000 54 0% 42 38.1% - - benign(0.013) deleterious(0) neutral(0.445) HMMPfam_Coatomer_E,superfamily_TPR-like COPE 11316 genome.wustl.edu 37 19 19021872 19021872 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007263.3 -1 reviewed p.F66 0.994 107 0.9% 88 35.2% - - - - - HMMPfam_Coatomer_E DDX49 54555 genome.wustl.edu 37 19 19038647 19038647 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019070.4 +1 validated p.R392Q 0.989 215 0% 99 39.4% - - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) superfamily_SSF52540 RFXANK 8625 genome.wustl.edu 37 19 19309477 19309477 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003721.2 +1 reviewed p.T192 0.001 144 0% 94 40.4% - - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat NCAN 1463 genome.wustl.edu 37 19 19337619 19337619 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004386.2 +1 validated p.S466* 0.000 35 0% 25 32% - - - - - NULL TSSK6 83983 genome.wustl.edu 37 19 19626008 19626008 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032037.2 -1 validated p.E77K 1.000 42 0% 40 30% - - possibly_damaging(0.773) tolerated(0.06) deleterious(0.610) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LPAR2 9170 genome.wustl.edu 37 19 19737838 19737838 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004720.5 -1 reviewed p.L86I 1.000 23 0% 26 23.1% - - benign(0.122) tolerated(0.63) neutral(0.013) HMMPfam_7tm_1,superfamily_SSF81321 GMIP 51291 genome.wustl.edu 37 19 19745629 19745629 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016573.2 -1 reviewed p.S620L 0.937 41 0% 39 30.8% - - benign(0.023) deleterious(0.01) neutral(0.407) HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP ZNF14 7561 genome.wustl.edu 37 19 19822955 19822955 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021030.2 -1 reviewed p.R379* 0.010 254 0% 152 43.4% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF93 81931 genome.wustl.edu 37 19 20045516 20045516 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031218.3 +1 validated p.K584 1.000 278 0% 180 15% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF93 81931 genome.wustl.edu 37 19 20045605 20045605 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031218.3 +1 validated p.I614T 0.862 166 0% 129 29.5% - - benign(0.037) tolerated(0.11) neutral(0.274) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF682 91120 genome.wustl.edu 37 19 20117061 20117061 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033196.2 -1 validated p.R417I 0.997 223 0% 166 16.3% - - probably_damaging(0.999) tolerated(0.42) deleterious(0.504) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF90 7643 genome.wustl.edu 37 19 20229797 20229797 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007138.1 +1 validated p.E478 1.000 232 0% 121 29.8% - - - - - superfamily_SSF57667 ZNF486 90649 genome.wustl.edu 37 19 20308458 20308458 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052852.2 +1 provisional p.K313N 0.964 214 0% 108 37% - - possibly_damaging(0.627) deleterious(0.05) deleterious(0.564) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ENSG00000213985 0 genome.wustl.edu 37 19 20369998 20369998 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000397155 +1 known p.R320Q 1.000 401 0.2% 236 28% - - - - - HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 ZNF737 100129842 genome.wustl.edu 37 19 20727496 20727496 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343624.1 -1 model p.G505* 1.000 166 0% 106 40.6% - - - - - superfamily_C2H2 and C2HC zinc fingers ZNF737 100129842 genome.wustl.edu 37 19 20727507 20727507 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343624.1 -1 model p.R501I 1.000 173 0% 118 30.5% - - benign(0.001) tolerated(0.25) neutral(0.037) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF626 199777 genome.wustl.edu 37 19 20807611 20807611 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001076675.2 -1 validated p.T358A 0.003 303 0% 164 44.5% - - benign(0.002) tolerated(0.35) neutral(0.021) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF85 7639 genome.wustl.edu 37 19 21131994 21131994 + Missense_Mutation SNP C C T rs150048393 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003429.3 +1 validated p.T225M 1.000 89 0% 57 40.4% - - possibly_damaging(0.854) deleterious(0.03) deleterious(0.694) superfamily_C2H2 and C2HC zinc fingers ZNF430 80264 genome.wustl.edu 37 19 21239788 21239788 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025189.3 +1 validated p.R225I 0.392 186 0% 99 34.3% - - benign(0.009) tolerated(0.09) neutral(0.297) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF430 80264 genome.wustl.edu 37 19 21240040 21240040 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025189.3 +1 validated p.R309I 0.837 51 0% 52 38.5% - - benign(0.001) tolerated(0.27) neutral(0.034) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF714 148206 genome.wustl.edu 37 19 21300218 21300218 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000291770 +1 known p.H250N 0.998 104 0% 44 31.8% - - possibly_damaging(0.496) deleterious(0) deleterious(0.610) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF708 7562 genome.wustl.edu 37 19 21477132 21477132 + Silent SNP C C T rs191052060 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021269.2 -1 validated p.T212 0.000 180 0% 122 35.2% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF493 284443 genome.wustl.edu 37 19 21606807 21606807 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001076678.2 +1 validated p.T449N 0.001 52 0% 44 11.4% - - benign(0.154) tolerated(0.4) neutral(0.029) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000196686 0 genome.wustl.edu 37 19 21607940 21607940 + RNA SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000341265 -1 novel NULL 0.000 33 0% 20 55% - - - - - - ZNF208 7757 genome.wustl.edu 37 19 22154338 22154338 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007153.3 -1 provisional p.E1038D 0.976 44 0% 37 35.1% - - possibly_damaging(0.76) deleterious(0.01) deleterious(0.687) superfamily_SSF57667 ZNF208 7757 genome.wustl.edu 37 19 22157186 22157186 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007153.3 -1 provisional p.T217N 0.000 151 0% 85 30.6% - - benign(0.095) tolerated(0.25) neutral(0.044) superfamily_SSF57667 ZNF257 113835 genome.wustl.edu 37 19 22271049 22271049 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033468.2 +1 provisional p.R166I 0.000 286 0% 138 33.3% - - benign(0.056) tolerated(0.48) neutral(0.014) superfamily_C2H2 and C2HC zinc fingers ZNF257 113835 genome.wustl.edu 37 19 22271475 22271475 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033468.2 +1 provisional p.R308K 1.000 154 0% 95 34.7% - - benign(0) tolerated(0.62) neutral(0.004) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF676 163223 genome.wustl.edu 37 19 22364334 22364334 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001411.2 -1 provisional p.S62Y 0.001 299 0% 143 32.9% - - possibly_damaging(0.595) tolerated(0.36) neutral(0.226) NULL LOC100130518 100130518 genome.wustl.edu 37 19 22487557 22487557 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001719773.2 +1 model p.K103N 0.053 602 0% 225 28.4% - - possibly_damaging(0.45) tolerated(0.28) neutral(0.179) NULL LOC100287226 100287226 genome.wustl.edu 37 19 22497601 22497601 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343636.1 +1 model p.K328T 0.104 90 0% 48 39.6% - - benign(0.313) tolerated(0.09) neutral(0.394) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22499121 22499121 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343636.1 +1 model p.E835* 0.110 134 1.5% 97 40.2% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF98 148198 genome.wustl.edu 37 19 22574340 22574340 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098626.1 -1 validated p.R566I 0.129 511 0% 256 25% - - benign(0) tolerated(0.22) neutral(0.042) NULL ZNF492 57615 genome.wustl.edu 37 19 22846953 22846953 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020855.2 +1 validated p.R161I 0.902 254 0% 124 33.1% - - benign(0.001) tolerated(0.08) neutral(0.300) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF99 7652 genome.wustl.edu 37 19 22941736 22941736 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080409.1 -1 provisional p.F234L 0.000 150 0% 100 50% - - benign(0.167) tolerated(0.67) neutral(0.017) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF99 7652 genome.wustl.edu 37 19 22942300 22942300 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080409.1 -1 provisional p.W158* 0.022 409 0% 186 12.9% - - - - - NULL ZNF99 7652 genome.wustl.edu 37 19 22942434 22942434 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080409.1 -1 provisional p.D114Y 0.041 334 0% 129 38.8% - - benign(0.108) tolerated(0.3) neutral(0.037) NULL ZNF728 388523 genome.wustl.edu 37 19 23159664 23159664 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001726961.1 -1 model p.N159D 0.000 380 0% 203 31.5% - - - - - superfamily_C2H2 and C2HC zinc fingers ZNF724P 440519 genome.wustl.edu 37 19 23406095 23406095 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000418100 -1 known p.A318T 0.085 43 0% 39 33.3% - - benign(0.094) tolerated(0.1) neutral(0.293) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF675 171392 genome.wustl.edu 37 19 23836194 23836194 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138330.2 -1 validated p.G514D 1.000 170 0% 102 43.1% - - benign(0.128) tolerated(0.13) neutral(0.263) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF675 171392 genome.wustl.edu 37 19 23837076 23837076 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138330.2 -1 validated p.R220I 1.000 180 0% 126 38.9% - - benign(0.001) tolerated(0.08) neutral(0.300) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF675 171392 genome.wustl.edu 37 19 23837160 23837160 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138330.2 -1 validated p.R192I 0.293 289 0% 162 35.2% - - benign(0.025) tolerated(0.22) neutral(0.043) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF681 148213 genome.wustl.edu 37 19 23926802 23926802 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138286.2 -1 validated p.R517Q 0.000 93 0% 62 40.3% - - benign(0.039) tolerated(0.82) neutral(0.003) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF681 148213 genome.wustl.edu 37 19 23937634 23937634 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138286.2 -1 validated p.E73K 0.241 667 0% 309 39.8% - - benign(0) tolerated(1) - NULL ZNF726 730087 genome.wustl.edu 37 19 24115906 24115906 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000322487 +1 known p.R330 0.096 92 0% 73 30.1% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers POP4 10775 genome.wustl.edu 37 19 30099571 30099571 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006627.2 +1 reviewed p.I5 0.989 375 0% 179 34.1% - - - - - NULL POP4 10775 genome.wustl.edu 37 19 30106209 30106209 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006627.2 +1 reviewed p.I195 1.000 186 0% 99 37.4% - - - - - HMMPfam_UPF0086,HMMSmart_SM00538,superfamily_RNase P subunit p29-like CCNE1 898 genome.wustl.edu 37 19 30311662 30311662 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001238.1 +1 reviewed p.F172L 1.000 273 0% 157 37.6% - - possibly_damaging(0.482) deleterious(0.01) deleterious(0.566) HMMSmart_SM00385,HMMPfam_Cyclin_N,PatternScan_CYCLINS,superfamily_Cyclin-like ZNF536 9745 genome.wustl.edu 37 19 30934835 30934835 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014717.1 +1 provisional p.D122 0.837 24 0% 22 31.8% - - - - - NULL ZNF536 9745 genome.wustl.edu 37 19 30935960 30935960 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014717.1 +1 provisional p.P497 0.023 30 0% 16 50% - - - - - NULL ZNF536 9745 genome.wustl.edu 37 19 31039231 31039231 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014717.1 +1 provisional p.R902K 1.000 146 0% 77 40.3% - - probably_damaging(0.988) deleterious(0.02) deleterious(0.821) NULL ZNF536 9745 genome.wustl.edu 37 19 31039865 31039865 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014717.1 +1 provisional p.K1113 1.000 192 0% 119 11.8% - - - - - NULL ZNF536 9745 genome.wustl.edu 37 19 31040142 31040142 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014717.1 +1 provisional p.G1206R 0.947 51 0% 22 22.7% - - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) NULL TSHZ3 57616 genome.wustl.edu 37 19 31767929 31767929 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020856.2 -1 validated p.M924V 1.000 108 0% 79 44.3% - - benign(0.258) deleterious(0.02) neutral(0.410) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like ZNF507 22847 genome.wustl.edu 37 19 32845207 32845207 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136156.1 +1 validated p.R491* 0.261 130 0% 78 41% - - - - - NULL ZNF507 22847 genome.wustl.edu 37 19 32845641 32845641 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136156.1 +1 validated p.P635 0.000 136 0% 92 41.3% - - - - - NULL DPY19L3 147991 genome.wustl.edu 37 19 32955652 32955652 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207325.2 +1 validated p.S526A 0.996 388 0% 191 37.2% - - benign(0.002) tolerated(0.39) neutral(0.016) HMMPfam_DUF2211 ANKRD27 84079 genome.wustl.edu 37 19 33093025 33093025 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032139.2 -1 validated p.K888I 1.000 214 0% 142 38% - - possibly_damaging(0.91) deleterious(0.01) deleterious(0.768) superfamily_ANK ANKRD27 84079 genome.wustl.edu 37 19 33113501 33113501 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032139.2 -1 validated p.D552N 1.000 149 0% 100 39% - - possibly_damaging(0.492) tolerated(0.19) neutral(0.214) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK CEP89 84902 genome.wustl.edu 37 19 33424435 33424435 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032816.3 -1 validated p.E270* 0.992 963 0% 445 35.5% - - - - - NULL WDR88 126248 genome.wustl.edu 37 19 33647373 33647373 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173479.3 +1 validated p.R308* 1.000 188 0% 133 10.5% - - - - - superfamily_WD40 repeat-like LRP3 4037 genome.wustl.edu 37 19 33696911 33696911 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002333.3 +1 validated p.G412D 1.000 11 0% 10 50% - - benign(0.011) tolerated(0.57) neutral(0.007) HMMSmart_LDLa PEPD 5184 genome.wustl.edu 37 19 33892769 33892769 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000285.3 -1 reviewed p.F275 0.962 99 0% 62 35.5% - - - - - HMMPfam_Peptidase_M24,superfamily_Peptidase_M24_cat_core LSM14A 26065 genome.wustl.edu 37 19 34712608 34712608 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001114093.1 +1 validated p.R445C 1.000 345 0% 175 33.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIAA0355 9710 genome.wustl.edu 37 19 34830782 34830782 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014686.3 +1 validated p.E458* 1.000 212 0% 129 40.3% - - - - - NULL GPI 2821 genome.wustl.edu 37 19 34868784 34868784 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000175.3 +1 reviewed p.K211E 1.000 190 0% 128 35.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PGI,superfamily_SSF53697 UBA2 10054 genome.wustl.edu 37 19 34929585 34929585 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005499.2 +1 validated p.P165 0.979 440 0.2% 237 35% - - - - - superfamily_MoeB,HMMPfam_UBA_e1_thiolCys ZNF302 55900 genome.wustl.edu 37 19 35175702 35175702 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012320.1 +1 validated p.E254* 1.000 354 0% 197 34.5% - - - - - superfamily_SSF57667 ZNF181 339318 genome.wustl.edu 37 19 35232280 35232280 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001029997.3 +1 validated p.R332C 0.001 267 0% 157 29.3% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00614,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF181 339318 genome.wustl.edu 37 19 35232476 35232476 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001029997.3 +1 validated p.R397I 0.994 226 0% 145 32.4% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF792 126375 genome.wustl.edu 37 19 35450392 35450392 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175872.4 -1 validated p.E123K 0.005 168 0% 108 40.7% - - benign(0) tolerated(1) - NULL SCN1B 6324 genome.wustl.edu 37 19 35523557 35523557 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199037.3 +1 reviewed p.E56K 0.989 100 0% 68 48.5% - - possibly_damaging(0.806) deleterious(0.01) deleterious(0.709) HMMPfam_ig,superfamily_SSF48726 SCN1B 6324 genome.wustl.edu 37 19 35524420 35524420 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199037.3 +1 reviewed p.N75 0.983 164 0% 85 43.5% - - - - - HMMPfam_ig,superfamily_SSF48726 LGI4 163175 genome.wustl.edu 37 19 35625474 35625474 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139284.2 -1 validated p.S37 0.359 54 0% 36 11.1% - - - - - NULL FXYD5 53827 genome.wustl.edu 37 19 35648396 35648396 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014164.5 +1 reviewed p.R45Q 0.000 201 0% 118 34.7% - - benign(0.004) tolerated(0.3) neutral(0.029) NULL FXYD5 53827 genome.wustl.edu 37 19 35654985 35654985 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000392217 +1 known p.Q2H 0.002 169 0% 101 42.6% - - benign(0.016) - - NULL KRTDAP 388533 genome.wustl.edu 37 19 35979725 35979725 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207392.1 -1 provisional p.E35D 0.000 104 0% 67 35.8% - - benign(0) tolerated(0.75) neutral(0.002) NULL ATP4A 495 genome.wustl.edu 37 19 36041820 36041820 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000704.2 -1 reviewed p.W999R 1.000 142 0% 89 34.8% - - possibly_damaging(0.926) deleterious(0) deleterious(0.819) HMMPfam_Cation_ATPase_C,superfamily_SSF81665 HAUS5 23354 genome.wustl.edu 37 19 36104782 36104782 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015302.1 +1 validated p.K58 1.000 215 0% 147 34% - - - - - NULL RBM42 79171 genome.wustl.edu 37 19 36125187 36125187 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024321.3 +1 provisional p.K349 1.000 90 0% 40 27.5% - - - - - superfamily_RNA-binding domain RBD ZBTB32 27033 genome.wustl.edu 37 19 36205924 36205924 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014383.1 +1 provisional p.E132D 0.025 117 0% 46 32.6% - - possibly_damaging(0.653) deleterious(0) deleterious(0.674) NULL MLL4 9757 genome.wustl.edu 37 19 36223430 36223430 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014727.1 +1 reviewed p.A1994T 1.000 85 0% 65 29.2% - - possibly_damaging(0.888) - - NULL NPHS1 4868 genome.wustl.edu 37 19 36321813 36321813 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004646.3 -1 reviewed p.Y1176C 1.000 143 0% 105 28.6% - - probably_damaging(0.984) deleterious(0.01) deleterious(0.836) NULL NPHS1 4868 genome.wustl.edu 37 19 36337010 36337010 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004646.3 -1 reviewed p.F509L 1.000 18 0% 12 50% - - benign(0.004) tolerated(0.1) neutral(0.286) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin ALKBH6 84964 genome.wustl.edu 37 19 36503928 36503928 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032878.3 -1 validated p.R68* 1.000 348 0% 151 32.5% - - - - - NULL WDR62 284403 genome.wustl.edu 37 19 36558828 36558828 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001083961.1 +1 validated p.A266 0.675 187 0% 134 34.3% - - - - - superfamily_WD40 repeat-like WDR62 284403 genome.wustl.edu 37 19 36595572 36595572 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001083961.1 +1 validated p.R1436C 0.718 104 0% 62 38.7% - - possibly_damaging(0.838) deleterious(0.01) deleterious(0.726) NULL CAPNS1 826 genome.wustl.edu 37 19 36633615 36633615 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001003962.1 +1 reviewed p.R102Q 1.000 218 0% 170 37.6% - - probably_damaging(1) tolerated(0.08) deleterious(0.800) superfamily_SSF47473 ZFP14 57677 genome.wustl.edu 37 19 36831728 36831728 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020917.1 -1 provisional p.H334N 1.000 272 0% 182 15.4% - - possibly_damaging(0.767) deleterious(0) deleterious(0.729) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP82 284406 genome.wustl.edu 37 19 36883749 36883749 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133466.2 -1 provisional p.R498K 1.000 219 0% 145 24.1% - - benign(0) tolerated(0.19) neutral(0.050) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF529 57711 genome.wustl.edu 37 19 37038086 37038086 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145649.1 -1 validated p.F458L 0.133 358 0% 211 37.9% - - possibly_damaging(0.942) deleterious(0.01) deleterious(0.792) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF529 57711 genome.wustl.edu 37 19 37045663 37045663 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145649.1 -1 validated p.F48L 1.000 356 0% 175 38.9% - - benign(0.067) deleterious(0.04) neutral(0.353) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF461 92283 genome.wustl.edu 37 19 37130519 37130519 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153257.2 -1 validated p.D243G 0.882 325 0% 190 30.5% - - benign(0.001) deleterious(0.01) neutral(0.406) superfamily_C2H2 and C2HC zinc fingers ZNF790 388536 genome.wustl.edu 37 19 37309595 37309595 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_206894.2 -1 validated p.R551* 0.002 210 0% 134 33.6% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF829 374899 genome.wustl.edu 37 19 37398889 37398889 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001037232.3 -1 validated p.L87 1.000 615 0% 287 31% - - - - - HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF568 374900 genome.wustl.edu 37 19 37441780 37441780 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198539.2 +1 validated p.L575 0.006 233 0% 129 36.4% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF420 147923 genome.wustl.edu 37 19 37619395 37619395 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144689.3 +1 provisional p.K501T 1.000 219 0% 141 41.1% - - probably_damaging(0.972) deleterious(0) deleterious(0.859) superfamily_SSF57667 HKR1 284459 genome.wustl.edu 37 19 37854097 37854097 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181786.2 +1 provisional p.K467T 0.998 267 0.4% 151 33.8% - - possibly_damaging(0.669) deleterious(0) deleterious(0.681) superfamily_C2H2 and C2HC zinc fingers ZNF569 148266 genome.wustl.edu 37 19 37903658 37903658 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152484.2 -1 validated p.F634 0.118 252 0.4% 149 46.3% - - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF569 148266 genome.wustl.edu 37 19 37903738 37903738 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152484.2 -1 validated p.C608R 1.000 381 0% 211 36% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF570 148268 genome.wustl.edu 37 19 37975539 37975539 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144694.1 +1 provisional p.F339V 0.978 235 0% 165 40.6% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF540 163255 genome.wustl.edu 37 19 38102515 38102515 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152606.3 +1 validated p.R112C 0.000 220 0% 70 22.9% - - possibly_damaging(0.763) tolerated(0.06) deleterious(0.605) NULL ZNF540 163255 genome.wustl.edu 37 19 38103473 38103473 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152606.3 +1 validated p.R431I 1.000 240 0% 135 32.6% - - possibly_damaging(0.926) deleterious(0) deleterious(0.819) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF607 84775 genome.wustl.edu 37 19 38189290 38189290 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032689.4 -1 validated p.R581Q 0.291 115 0% 91 34.1% - - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers WDR87 83889 genome.wustl.edu 37 19 38375886 38375886 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031951.3 -1 provisional p.K2770Q 0.638 75 0% 46 21.7% - - unknown(0) - - NULL WDR87 83889 genome.wustl.edu 37 19 38378473 38378473 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031951.3 -1 provisional p.E1907D 0.000 763 0% 399 36.1% - - probably_damaging(0.984) - - superfamily_WD40 repeat-like,superfamily_ARM repeat WDR87 83889 genome.wustl.edu 37 19 38378710 38378710 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031951.3 -1 provisional p.K1828N 0.000 718 0.1% 438 34% - - possibly_damaging(0.63) - - superfamily_WD40 repeat-like,superfamily_ARM repeat WDR87 83889 genome.wustl.edu 37 19 38379015 38379015 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031951.3 -1 provisional p.E1727* 0.000 768 0.3% 366 35.2% - - - - - superfamily_WD40 repeat-like,superfamily_ARM repeat WDR87 83889 genome.wustl.edu 37 19 38379226 38379226 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031951.3 -1 provisional p.E1656D 0.000 589 0% 333 39.3% - - probably_damaging(0.967) - - superfamily_WD40 repeat-like,superfamily_ARM repeat WDR87 83889 genome.wustl.edu 37 19 38380255 38380255 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031951.3 -1 provisional p.E1313D 0.002 377 0% 206 41.3% - - possibly_damaging(0.945) - - superfamily_WD40 repeat-like,superfamily_ARM repeat CATSPERG 57828 genome.wustl.edu 37 19 38857915 38857915 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021185.4 +1 validated p.N911 0.000 247 0% 160 30% - - - - - NULL CATSPERG 57828 genome.wustl.edu 37 19 38858734 38858734 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021185.4 +1 validated p.D993Y 0.079 418 0% 230 34.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM98C 147965 genome.wustl.edu 37 19 38899467 38899467 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_174905.3 +1 validated p.R332Q 1.000 126 0% 49 38.8% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_DUF2465 RYR1 6261 genome.wustl.edu 37 19 38956915 38956915 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000540.2 +1 reviewed p.R1019W 1.000 26 0% 20 35% - - probably_damaging(0.999) - - HMMPfam_RyR RYR1 6261 genome.wustl.edu 37 19 38979991 38979991 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000540.2 +1 reviewed p.K1908Q 0.521 355 0% 171 25.7% - - benign(0.24) - - NULL RYR1 6261 genome.wustl.edu 37 19 38987589 38987589 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000540.2 +1 reviewed p.E2296* 1.000 37 0% 32 28.1% - - - - - HMMPfam_RYDR_ITPR RYR1 6261 genome.wustl.edu 37 19 38993258 38993258 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000540.2 +1 reviewed p.A2576T 1.000 53 0% 35 42.9% - - probably_damaging(0.967) - - NULL RYR1 6261 genome.wustl.edu 37 19 38996982 38996982 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000540.2 +1 reviewed p.D2861N 1.000 206 0% 115 11.3% - - probably_damaging(0.999) - - HMMPfam_RyR RYR1 6261 genome.wustl.edu 37 19 39002230 39002230 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000540.2 +1 reviewed p.R3051H 1.000 470 0.2% 332 40.4% - - possibly_damaging(0.939) - - NULL RYR1 6261 genome.wustl.edu 37 19 39019632 39019632 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000540.2 +1 reviewed p.E3692D 0.997 174 0% 72 30.6% - - benign(0.013) - - NULL MAP4K1 11184 genome.wustl.edu 37 19 39103297 39103297 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007181.4 -1 validated p.E207K 1.000 45 0% 33 39.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ACTN4 81 genome.wustl.edu 37 19 39200067 39200067 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004924.3 +1 reviewed p.F228 0.958 215 0% 114 13.2% - - - - - HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology CAPN12 147968 genome.wustl.edu 37 19 39228920 39228920 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144691.3 -1 validated p.E320K 1.000 166 0% 119 30.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_C2,HMMSmart_CysPc,superfamily_SSF54001 LGALS4 3960 genome.wustl.edu 37 19 39292754 39292754 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006149.3 -1 reviewed p.L235M 0.980 160 0% 102 47.1% - - possibly_damaging(0.871) deleterious(0.02) deleterious(0.722) HMMPfam_Gal-bind_lectin,HMMSmart_SM00276,superfamily_Concanavalin A-like lectins/glucanases LGALS4 3960 genome.wustl.edu 37 19 39293005 39293005 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006149.3 -1 reviewed p.A204T 0.000 299 0% 197 18.3% - - benign(0.015) deleterious(0.03) neutral(0.365) HMMPfam_Gal-bind_lectin,HMMSmart_SM00276,superfamily_Concanavalin A-like lectins/glucanases SARS2 54938 genome.wustl.edu 37 19 39421175 39421175 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017827.3 -1 reviewed p.E68K 0.996 25 0% 18 22.2% - - possibly_damaging(0.784) deleterious(0.01) deleterious(0.699) superfamily_tRNA_binding_arm,HMMPfam_Seryl_tRNA_N MED29 55588 genome.wustl.edu 37 19 39884244 39884244 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017592.1 +1 provisional p.F130L 1.000 220 0% 119 29.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PLEKHG2 64857 genome.wustl.edu 37 19 39912792 39912792 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022835.2 +1 validated p.S514Y 0.360 152 0% 102 48% - - possibly_damaging(0.462) deleterious(0.04) deleterious(0.500) NULL SUPT5H 6829 genome.wustl.edu 37 19 39949469 39949469 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001111020.2 +1 validated p.D111N 1.000 378 0% 215 33% - - benign(0.103) tolerated(0.23) neutral(0.050) NULL SUPT5H 6829 genome.wustl.edu 37 19 39963104 39963104 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001111020.2 +1 validated p.I669T 1.000 144 0% 86 33.7% - - possibly_damaging(0.852) deleterious(0.04) deleterious(0.676) NULL CLC 1178 genome.wustl.edu 37 19 40224989 40224989 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001828.4 -1 reviewed p.K79N 0.000 354 0% 238 14.7% - - benign(0.001) tolerated(0.34) neutral(0.023) HMMPfam_Gal-bind_lectin,HMMSmart_GLECT,superfamily_ConA_like_lec_gl DYRK1B 9149 genome.wustl.edu 37 19 40319120 40319120 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004714.1 -1 reviewed p.G208 0.190 204 0% 121 43% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FCGBP 8857 genome.wustl.edu 37 19 40392628 40392628 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003890.2 -1 validated p.D2626N 0.647 120 0.8% 97 29.9% - - unknown(0) tolerated(0.34) - NULL FCGBP 8857 genome.wustl.edu 37 19 40408594 40408594 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003890.2 -1 validated p.F1415 0.895 168 0% 149 31.5% - - - - - NULL PSMC4 5704 genome.wustl.edu 37 19 40486588 40486588 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006503.2 +1 reviewed p.K369N 1.000 431 0% 205 33.2% - - possibly_damaging(0.89) deleterious(0.02) deleterious(0.733) HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF780B 163131 genome.wustl.edu 37 19 40540616 40540616 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005851.2 -1 validated p.R717Q 0.000 214 0% 136 28.7% - - probably_damaging(0.995) tolerated(0.67) neutral(0.460) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MAP3K10 4294 genome.wustl.edu 37 19 40711848 40711848 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002446.3 +1 reviewed p.R407W 1.000 36 0% 21 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LTBP4 8425 genome.wustl.edu 37 19 41122863 41122863 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000308370 +1 known p.S1028P 1.000 74 0% 59 35.6% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMSmart_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 LTBP4 8425 genome.wustl.edu 37 19 41133686 41133686 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042544.1 +1 reviewed p.A1548V 0.997 12 0% 21 57.1% - - - - - NULL ITPKC 80271 genome.wustl.edu 37 19 41223539 41223539 + Missense_Mutation SNP C C G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025194.2 +1 reviewed p.P167A 0.067 99 0% 66 33.3% - - possibly_damaging(0.454) deleterious(0.02) deleterious(0.531) NULL RAB4B 53916 genome.wustl.edu 37 19 41286315 41286315 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016154.3 +1 validated p.I41 0.808 495 0% 243 39.5% - - - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CYP2A7 1549 genome.wustl.edu 37 19 41384682 41384682 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000764.2 -1 reviewed p.L272I 0.999 382 0% 269 27.1% - - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_p450,superfamily_Cytochrome_P450 ENSG00000198251 0 genome.wustl.edu 37 19 41415154 41415154 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000412510 -1 known p.F152I 1.000 311 0% 139 31.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome P450 CYP2B6 1555 genome.wustl.edu 37 19 41510289 41510289 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000767.4 +1 reviewed p.S141N 0.000 493 0% 216 36.6% - - benign(0.106) tolerated(0.06) neutral(0.331) HMMPfam_p450,superfamily_Cytochrome_P450 CYP2B6 1555 genome.wustl.edu 37 19 41515901 41515901 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000767.4 +1 reviewed p.E275D 0.991 221 0% 158 35.4% - - benign(0.019) tolerated(0.06) neutral(0.324) HMMPfam_p450,superfamily_Cytochrome_P450 CYP2A13 1553 genome.wustl.edu 37 19 41596373 41596373 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000766.3 +1 reviewed p.V186 1.000 582 0% 314 32.2% - - - - - HMMPfam_p450,superfamily_Cytochrome_P450 BCKDHA 593 genome.wustl.edu 37 19 41916646 41916646 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000709.3 +1 reviewed p.N71 1.000 135 0% 71 35.2% - - - - - NULL ATP5SL 55101 genome.wustl.edu 37 19 41944155 41944155 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018035.2 -1 validated p.Q61H 0.001 259 0% 184 17.4% - - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL CEACAM4 1089 genome.wustl.edu 37 19 42128109 42128109 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001817.2 -1 validated p.V153I 0.003 95 0% 60 31.7% - - benign(0.035) tolerated(1) neutral(0.002) NULL CEACAM5 1048 genome.wustl.edu 37 19 42213831 42213831 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000398599 +1 known p.D96N 0.001 804 0% 412 36.2% - - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CEACAM5 1048 genome.wustl.edu 37 19 42224889 42224889 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004363.2 +1 validated p.S607P 0.001 284 0% 202 25.2% - - benign(0.001) tolerated(0.21) neutral(0.044) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin CEACAM6 4680 genome.wustl.edu 37 19 42260687 42260687 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002483.4 +1 validated p.Y82D 0.010 694 0% 511 39.5% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin DMRTC2 63946 genome.wustl.edu 37 19 42353013 42353013 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040283.1 +1 validated p.E200* 1.000 195 0% 136 40.4% - - - - - NULL CIC 23152 genome.wustl.edu 37 19 42792017 42792017 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015125.3 +1 validated p.R274Q 1.000 34 0% 31 29% - - possibly_damaging(0.772) deleterious(0.02) deleterious(0.670) NULL MEGF8 1954 genome.wustl.edu 37 19 42855870 42855870 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001410.2 +1 validated p.E953K 1.000 60 0% 49 32.7% - - possibly_damaging(0.601) tolerated(0.38) neutral(0.225) HMMPfam_PSI,HMMSmart_PSI MEGF8 1954 genome.wustl.edu 37 19 42866668 42866668 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001410.2 +1 validated p.E1926K 1.000 41 0% 40 57.5% - - probably_damaging(0.995) tolerated(0.85) neutral(0.458) NULL MEGF8 1954 genome.wustl.edu 37 19 42867312 42867312 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001410.2 +1 validated p.C1990 1.000 436 0.2% 285 38.9% - - - - - NULL CEACAM1 634 genome.wustl.edu 37 19 43023107 43023107 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001712.4 -1 reviewed p.N413 0.002 533 0% 285 35.1% - - - - - HMMSmart_SM00409,superfamily_Immunoglobulin PSG8 440533 genome.wustl.edu 37 19 43259169 43259169 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182707.2 -1 validated p.R320H 0.000 783 0% 395 34.9% - - benign(0.016) tolerated(0.3) neutral(0.029) HMMSmart_IG,superfamily_SSF48726 PSG1 5669 genome.wustl.edu 37 19 43348520 43348520 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000449000 -1 known p.E412K 0.000 576 0.2% 330 37.9% - - - - - HMMSmart_SM00409,superfamily_Immunoglobulin PSG1 5669 genome.wustl.edu 37 19 43373099 43373099 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006905.2 -1 validated p.S266I 0.000 900 0% 457 33.5% - - benign(0.122) deleterious(0) neutral(0.455) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PSG1 5669 genome.wustl.edu 37 19 43376052 43376052 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006905.2 -1 validated p.S192R 0.007 677 0% 370 38.9% - - benign(0) tolerated(1) - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PSG9 5678 genome.wustl.edu 37 19 43766245 43766245 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002784.3 -1 validated p.R159M 0.006 666 0.2% 333 33.9% - - benign(0.023) tolerated(0.15) neutral(0.242) HMMSmart_SM00409,superfamily_Immunoglobulin CD177 57126 genome.wustl.edu 37 19 43858504 43858504 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000457794 +1 known p.L113 0.000 64 0% 48 22.9% - - - - - NULL TEX101 83639 genome.wustl.edu 37 19 43922388 43922388 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031451.4 +1 validated p.I215L 0.000 170 0% 161 30.4% - - benign(0.393) tolerated(0.45) neutral(0.138) HMMPfam_UPAR_LY6 LYPD3 27076 genome.wustl.edu 37 19 43965843 43965843 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014400.2 -1 validated p.R234Q 0.000 372 0% 207 41.5% - - benign(0.392) deleterious(0) deleterious(0.570) NULL ETHE1 23474 genome.wustl.edu 37 19 44011055 44011055 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014297.3 -1 reviewed e7-1 1.000 104 0% 54 29.6% - - - - - - SRRM5 100170229 genome.wustl.edu 37 19 44116797 44116797 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145641.1 +1 validated p.R175Q 0.004 148 0% 78 35.9% - - probably_damaging(0.999) tolerated(0.13) deleterious(0.743) NULL CADM4 199731 genome.wustl.edu 37 19 44130337 44130337 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145296.1 -1 validated p.A201 0.269 189 0% 98 33.7% - - - - - HMMSmart_IG,HMMPfam_C2-set_2,superfamily_SSF48726 PLAUR 5329 genome.wustl.edu 37 19 44160757 44160757 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002659.2 -1 reviewed p.E116K 0.062 179 0% 118 50.8% - - possibly_damaging(0.666) deleterious(0) deleterious(0.680) HMMSmart_SM00134,PatternScan_LY6_UPAR,superfamily_Snake toxin-like ZNF283 284349 genome.wustl.edu 37 19 44351928 44351928 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181845.1 +1 validated p.R392Q 0.286 308 0% 142 40.8% - - possibly_damaging(0.809) tolerated(0.7) neutral(0.306) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF283 284349 genome.wustl.edu 37 19 44352264 44352264 + Missense_Mutation SNP G G A rs191317922 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181845.1 +1 validated p.R504Q 0.004 323 0% 189 37% - - benign(0.148) tolerated(0.72) neutral(0.014) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF283 284349 genome.wustl.edu 37 19 44352357 44352357 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181845.1 +1 validated p.R535I 1.000 255 0% 173 43.9% - - probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF221 7638 genome.wustl.edu 37 19 44470790 44470790 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013359.2 +1 validated p.R379Q 0.000 296 0% 145 32.4% - - benign(0.054) tolerated(0.1) neutral(0.290) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF284 342909 genome.wustl.edu 37 19 44591153 44591153 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001037813.2 +1 provisional p.E508* 0.997 225 0% 103 35.9% - - - - - superfamily_SSF57667 ZNF224 7767 genome.wustl.edu 37 19 44605025 44605025 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013398.2 +1 validated p.Q29H 0.999 701 0% 441 25.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF225 7768 genome.wustl.edu 37 19 44636174 44636174 + Silent SNP G G A rs145291466 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013362.2 +1 validated p.S469 0.000 286 0% 154 36.4% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF226 7769 genome.wustl.edu 37 19 44677077 44677077 + Silent SNP G G A rs143030063 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001032372.1 +1 validated p.T69 0.072 324 0% 166 30.7% - - - - - NULL ZNF226 7769 genome.wustl.edu 37 19 44681277 44681277 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001032372.1 +1 validated p.G621E 1.000 302 0% 160 27.5% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF226 7769 genome.wustl.edu 37 19 44681371 44681371 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001032372.1 +1 validated p.F652 0.934 333 0.3% 179 22.9% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP112 7771 genome.wustl.edu 37 19 44833386 44833386 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001083335.1 -1 validated p.E314D 0.001 233 0% 163 30.7% - - benign(0.013) tolerated(0.4) neutral(0.017) superfamily_C2H2 and C2HC zinc fingers ZNF285 26974 genome.wustl.edu 37 19 44891809 44891809 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152354.3 -1 validated p.G200* 0.044 310 0% 180 38.9% - - - - - NULL ZNF229 7772 genome.wustl.edu 37 19 44933584 44933584 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014518.2 -1 validated p.E458K 0.997 132 0% 106 10.4% - - probably_damaging(0.962) deleterious(0.04) deleterious(0.754) superfamily_C2H2 and C2HC zinc fingers ZNF180 7733 genome.wustl.edu 37 19 44980798 44980798 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013256.3 -1 validated p.E634* 0.049 277 0% 209 31.1% - - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF180 7733 genome.wustl.edu 37 19 44981100 44981100 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013256.3 -1 validated p.S533N 0.088 245 0% 180 36.1% - - benign(0.036) tolerated(0.16) neutral(0.061) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF180 7733 genome.wustl.edu 37 19 44981664 44981664 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013256.3 -1 validated p.R345I 0.992 142 0% 86 26.7% - - possibly_damaging(0.81) deleterious(0) deleterious(0.750) superfamily_C2H2 and C2HC zinc fingers ZNF180 7733 genome.wustl.edu 37 19 44981975 44981975 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013256.3 -1 validated p.E241D 0.000 108 0% 74 36.5% - - benign(0) tolerated(0.65) neutral(0.003) NULL PVRL2 5819 genome.wustl.edu 37 19 45368670 45368670 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042724.1 +1 reviewed p.A77 0.000 65 0% 54 33.3% - - - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CLPTM1 1209 genome.wustl.edu 37 19 45491409 45491409 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001294.1 +1 provisional p.F370 0.994 203 0% 166 37.3% - - - - - HMMPfam_CLPTM1 ZNF296 162979 genome.wustl.edu 37 19 45574967 45574967 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145288.1 -1 provisional p.P440 0.005 59 0% 46 41.3% - - - - - NULL ZNF296 162979 genome.wustl.edu 37 19 45575141 45575141 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145288.1 -1 provisional p.R382 0.000 72 0% 59 47.5% - - - - - NULL ERCC1 2067 genome.wustl.edu 37 19 45912975 45912975 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001983.3 -1 reviewed p.R284 1.000 208 0% 139 35.3% - - - - - HMMPfam_HHH,HMMSmart_HhH1,superfamily_RuvA_2_like GIPR 2696 genome.wustl.edu 37 19 46176210 46176210 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000164.2 +1 validated p.L128M 0.999 321 0% 216 35.2% - - benign(0.004) tolerated(0.14) neutral(0.249) superfamily_Hormone receptor domain (HRM Pfam 02793) DMPK 1760 genome.wustl.edu 37 19 46278282 46278282 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001081563.1 -1 reviewed p.S396L 0.998 48 0% 37 35.1% - - probably_damaging(0.993) tolerated(0.22) deleterious(0.492) HMMSmart_SM00133,HMMPfam_Pkinase_C NOVA2 4858 genome.wustl.edu 37 19 46443262 46443262 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002516.2 -1 validated p.G446 0.989 70 0% 65 33.8% - - - - - HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 CCDC61 729440 genome.wustl.edu 37 19 46511533 46511533 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080402.1 +1 provisional p.E232D 0.026 76 0% 39 25.6% - - possibly_damaging(0.892) deleterious(0.04) deleterious(0.700) NULL IGFL1 374918 genome.wustl.edu 37 19 46733387 46733387 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198541.1 +1 provisional p.I16 0.000 493 0% 223 12.1% - - - - - NULL HIF3A 64344 genome.wustl.edu 37 19 46825082 46825082 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152795.2 +1 reviewed p.S398 0.993 55 0% 50 42% - - - - - NULL PPP5C 5536 genome.wustl.edu 37 19 46887078 46887078 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006247.2 +1 provisional p.F247 1.000 216 0% 127 35.4% - - - - - HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases ARHGAP35 2909 genome.wustl.edu 37 19 47423781 47423781 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004491.4 +1 reviewed p.R617* 1.000 133 0% 84 21.4% - - - - - NULL ARHGAP35 2909 genome.wustl.edu 37 19 47424529 47424529 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004491.4 +1 reviewed p.S866Y 1.000 316 0.3% 255 25.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARHGAP35 2909 genome.wustl.edu 37 19 47424921 47424921 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004491.4 +1 reviewed p.R997* 1.000 75 0% 47 10.6% - - - - - NULL ZC3H4 23211 genome.wustl.edu 37 19 47593274 47593274 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015168.1 -1 validated p.K222R 1.000 286 0% 233 35.6% - - unknown(0) deleterious(0.02) - NULL SAE1 10055 genome.wustl.edu 37 19 47712515 47712515 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000413379 +1 known p.R278I 0.000 266 0% 172 30.8% - - benign(0.007) - - NULL KPTN 11133 genome.wustl.edu 37 19 47978759 47978759 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007059.2 -1 validated p.R409* 0.967 156 0% 99 29.3% - - - - - NULL ZNF541 84215 genome.wustl.edu 37 19 48044167 48044167 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001101419.1 -1 validated p.E815D 0.916 168 0% 115 33% - - benign(0.001) tolerated(0.24) neutral(0.037) NULL EHD2 30846 genome.wustl.edu 37 19 48239729 48239729 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014601.3 +1 reviewed p.A340V 0.991 172 0% 114 36% - - benign(0) tolerated(0.3) neutral(0.029) NULL TPRX1 284355 genome.wustl.edu 37 19 48305782 48305782 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198479.2 -1 validated p.P162 0.001 473 0% 308 41.6% - - - - - NULL CRX 1406 genome.wustl.edu 37 19 48342694 48342694 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000554.4 +1 reviewed p.S124P 0.062 53 0% 37 32.4% - - benign(0.001) tolerated(0.51) neutral(0.009) NULL SULT2A1 6822 genome.wustl.edu 37 19 48389466 48389466 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003167.3 -1 reviewed p.G17S 0.000 375 0% 219 19.6% - - benign(0.002) tolerated(0.41) neutral(0.015) superfamily_P-loop containing nucleoside triphosphate hydrolases PLA2G4C 8605 genome.wustl.edu 37 19 48556310 48556310 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003706.2 -1 reviewed p.K508N 0.008 319 0% 226 33.6% - - probably_damaging(0.998) tolerated(0.27) deleterious(0.508) superfamily_Acyl_Trfase/lysoPlipase PLA2G4C 8605 genome.wustl.edu 37 19 48608660 48608660 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003706.2 -1 reviewed p.K17T 0.247 260 0% 144 39.6% - - probably_damaging(0.954) deleterious(0.02) deleterious(0.780) HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase LIG1 3978 genome.wustl.edu 37 19 48631238 48631238 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000234.1 -1 reviewed p.E621K 1.000 301 0% 209 34.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_ligase_A_M,superfamily_DNA ligase/mRNA capping enzyme catalytic domain CARD8 22900 genome.wustl.edu 37 19 48733748 48733748 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014959.3 -1 reviewed p.E222K 0.003 324 0% 133 30.1% - - possibly_damaging(0.896) tolerated(0.08) deleterious(0.653) NULL CCDC114 93233 genome.wustl.edu 37 19 48800924 48800924 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144577.3 -1 validated p.E465K 0.922 114 0% 78 39.7% - - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) NULL CCDC114 93233 genome.wustl.edu 37 19 48806906 48806906 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144577.3 -1 validated e7+1 0.993 254 0% 134 29.1% - - - - - - KDELR1 10945 genome.wustl.edu 37 19 48892843 48892843 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006801.2 -1 reviewed p.A106 0.056 133 0% 78 37.2% - - - - - HMMPfam_ER_lumen_recept BAX 581 genome.wustl.edu 37 19 49459487 49459487 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004324.3 +1 reviewed p.R89Q 0.947 198 0% 140 35.7% - - probably_damaging(0.964) tolerated(0.86) neutral(0.407) HMMPfam_Bcl-2,HMMSmart_BCL,superfamily_SSF56854 HRC 3270 genome.wustl.edu 37 19 49654799 49654799 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002152.2 -1 reviewed p.D680N 0.996 170 0% 98 29.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HRC 3270 genome.wustl.edu 37 19 49657709 49657709 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002152.2 -1 reviewed p.V262 0.004 336 0% 220 30.5% - - - - - NULL HRC 3270 genome.wustl.edu 37 19 49657709 49657711 + In_Frame_Del DEL GAC GAC - novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 GAC GAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002152.2 -1 reviewed p.V262in_frame_del 0.004:0.156:0.165 - - - - - - - - - NULL HRC 3270 genome.wustl.edu 37 19 49657713 49657713 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002152.2 -1 reviewed p.D261V 0.119 217 3.7% 187 19.3% - - benign(0.003) tolerated(0.05) neutral(0.345) NULL SLC6A16 28968 genome.wustl.edu 37 19 49797118 49797118 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014037.2 -1 validated p.F528L 0.371 499 0% 243 25.5% - - probably_damaging(0.971) tolerated(0.74) neutral(0.414) HMMPfam_SNF SLC17A7 57030 genome.wustl.edu 37 19 49935835 49935835 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020309.3 -1 reviewed p.F364C 1.000 14 0% 16 50% - - probably_damaging(0.985) deleterious(0.04) deleterious(0.781) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter RPL13A 23521 genome.wustl.edu 37 19 49993541 49993541 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012423.2 +1 reviewed p.F47 1.000 104 0% 66 42.4% - - - - - HMMPfam_Ribosomal_L13,superfamily_Ribosomal_L13 RPL13A 23521 genome.wustl.edu 37 19 49994339 49994339 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012423.2 +1 reviewed p.L129 0.994 89 0% 54 44.4% - - - - - superfamily_Ribosomal_L13 RCN3 57333 genome.wustl.edu 37 19 50040295 50040295 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020650.2 +1 provisional p.E151* 1.000 105 0% 60 43.3% - - - - - NULL NOSIP 51070 genome.wustl.edu 37 19 50063238 50063238 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015953.3 -1 provisional p.F43 0.909 202 0% 156 34.6% - - - - - superfamily_SSF57850 RRAS 6237 genome.wustl.edu 37 19 50139929 50139929 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006270.3 -1 provisional p.D134N 0.680 72 0% 47 38.3% - - possibly_damaging(0.559) tolerated(0.14) neutral(0.440) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases SCAF1 58506 genome.wustl.edu 37 19 50154138 50154138 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021228.2 +1 validated p.S164 0.024 39 0% 28 46.4% - - - - - NULL SCAF1 58506 genome.wustl.edu 37 19 50154321 50154321 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021228.2 +1 validated p.F225 0.000 85 0% 28 28.6% - - - - - NULL BCL2L12 83596 genome.wustl.edu 37 19 50173529 50173529 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138639.1 +1 reviewed p.F246 0.997 19 0% 17 47.1% - - - - - NULL CPT1C 126129 genome.wustl.edu 37 19 50203963 50203963 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152359.1 +1 provisional p.R102W 0.051 75 0% 51 39.2% - - probably_damaging(0.967) deleterious(0.01) deleterious(0.815) NULL TSKS 60385 genome.wustl.edu 37 19 50247621 50247621 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021733.1 -1 reviewed p.E410K 1.000 64 0% 53 28.3% - - benign(0.029) deleterious(0.03) neutral(0.366) NULL PTOV1 53635 genome.wustl.edu 37 19 50361820 50361820 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017432.3 +1 provisional p.P317 0.964 28 0% 25 36% - - - - - NULL IL4I1 259307 genome.wustl.edu 37 19 50399077 50399077 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172374.1 -1 reviewed p.H105Y 0.998 85 0% 44 29.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain VRK3 51231 genome.wustl.edu 37 19 50482460 50482460 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016440.3 -1 reviewed p.T439M 0.003 198 0% 143 37.8% - - possibly_damaging(0.922) tolerated(0.1) deleterious(0.658) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ZNF473 25888 genome.wustl.edu 37 19 50549738 50549738 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001006656.1 +1 validated p.D680N 1.000 106 0% 105 29.5% - - probably_damaging(0.988) tolerated(0.16) deleterious(0.497) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NR1H2 7376 genome.wustl.edu 37 19 50882354 50882354 + Silent SNP C C T rs145512629 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007121.4 +1 validated p.I281 0.251 63 0% 53 35.8% - - - - - HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain MYBPC2 4606 genome.wustl.edu 37 19 50949211 50949211 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004533.3 +1 validated p.R403H 0.996 169 0% 86 39.5% - - possibly_damaging(0.881) deleterious(0.01) deleterious(0.749) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 C19orf63 284361 genome.wustl.edu 37 19 50978584 50978584 + Splice_Site SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000430752 +1 known e1-1 0.994 50 0% 41 24.4% - - - - - - LRRC4B 94030 genome.wustl.edu 37 19 51021312 51021312 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080457.1 -1 provisional p.F553S 1.000 30 0% 22 18.2% - - benign(0.02) tolerated(0.11) neutral(0.273) NULL SYT3 84258 genome.wustl.edu 37 19 51133181 51133181 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032298.2 -1 validated p.R308W 1.000 68 0% 49 32.7% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_C2_CaLB SHANK1 50944 genome.wustl.edu 37 19 51172497 51172497 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016148.2 -1 validated p.K907T 1.000 74 0% 29 17.2% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ENSG00000180279 0 genome.wustl.edu 37 19 51321694 51321694 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000326989 +1 known p.L41M 0.001 40 0.000 8 0.750 - - unknown(0) - - NULL KLK3 354 genome.wustl.edu 37 19 51361297 51361297 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001648.2 +1 reviewed p.I73 0.015 172 0% 133 33.1% - - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases KLK4 9622 genome.wustl.edu 37 19 51411964 51411964 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004917.3 -1 reviewed p.D116N 1.000 97 0% 54 44.4% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases KLK9 284366 genome.wustl.edu 37 19 51506384 51506384 + Nonsense_Mutation SNP C C A rs111525769 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012315.1 -1 validated p.E246* 0.013 143 0% 95 28.4% - - - - - superfamily_Trypsin-like serine proteases KLK9 284366 genome.wustl.edu 37 19 51507050 51507050 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012315.1 -1 validated p.E171D 0.015 139 0% 102 40.2% - - benign(0) tolerated(0.11) neutral(0.272) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases KLK10 5655 genome.wustl.edu 37 19 51518082 51518082 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077500.1 -1 reviewed p.I269V 1.000 267 0% 134 41% - - possibly_damaging(0.86) tolerated(0.06) deleterious(0.655) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases KLK10 5655 genome.wustl.edu 37 19 51519341 51519341 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077500.1 -1 reviewed p.R114H 0.000 79 0% 74 36.5% - - benign(0.003) tolerated(0.09) neutral(0.296) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases ENSG00000171101 0 genome.wustl.edu 37 19 51671036 51671036 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000341811 +1 known p.I81T 0.004 75 0% 46 34.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 C19orf75 284369 genome.wustl.edu 37 19 51768869 51768869 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173635.1 +1 predicted p.N90 0.000 176 0% 98 38.8% - - - - - NULL ETFB 2109 genome.wustl.edu 37 19 51857488 51857488 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001014763.1 -1 reviewed p.I135 0.961 103 0% 59 11.9% - - - - - HMMPfam_ETF,superfamily_SSF52402 ETFB 2109 genome.wustl.edu 37 19 51857546 51857546 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001014763.1 -1 reviewed p.D116G 1.000 109 0.9% 60 38.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_SSF52402 SIGLEC10 89790 genome.wustl.edu 37 19 51917741 51917741 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033130.4 -1 validated p.F548L 0.043 176 0.6% 119 36.1% - - benign(0.021) tolerated(0.72) neutral(0.003) NULL SIGLEC10 89790 genome.wustl.edu 37 19 51920352 51920352 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033130.4 -1 validated p.F135L 0.010 71 0% 24 37.5% - - benign(0.008) tolerated(1) - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin SIGLEC8 27181 genome.wustl.edu 37 19 51957546 51957546 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014442.2 -1 validated p.S391L 0.000 288 0% 157 27.4% - - possibly_damaging(0.719) tolerated(0.08) deleterious(0.560) NULL SIGLEC6 946 genome.wustl.edu 37 19 52031466 52031466 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001245.5 -1 validated p.W352G 0.000 283 0% 122 26.2% - - benign(0.001) tolerated(0.66) neutral(0.003) NULL ZNF175 7728 genome.wustl.edu 37 19 52091236 52091236 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007147.2 +1 validated p.R551I 0.921 235 0% 144 20.8% - - probably_damaging(0.973) deleterious(0) deleterious(0.859) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SIGLEC5 8778 genome.wustl.edu 37 19 52133129 52133129 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003830.2 -1 validated p.V126 0.000 464 0% 262 30.9% - - - - - HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 ZNF614 80110 genome.wustl.edu 37 19 52519161 52519161 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025040.3 -1 validated p.E564* 0.726 484 0% 269 38.3% - - - - - superfamily_SSF57667 ZNF614 80110 genome.wustl.edu 37 19 52519595 52519595 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025040.3 -1 validated p.R419Q 0.964 381 0% 232 28.4% - - possibly_damaging(0.869) deleterious(0.01) deleterious(0.743) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF432 9668 genome.wustl.edu 37 19 52538090 52538090 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014650.2 -1 provisional p.R281Q 0.972 305 0% 190 40% - - probably_damaging(0.996) tolerated(0.06) deleterious(0.784) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF432 9668 genome.wustl.edu 37 19 52538158 52538158 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014650.2 -1 provisional p.E258D 1.000 227 0% 150 36.7% - - benign(0.001) tolerated(0.11) neutral(0.272) superfamily_SSF57667 ZNF432 9668 genome.wustl.edu 37 19 52538174 52538174 + Missense_Mutation SNP C C A rs183925976 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014650.2 -1 provisional p.R253I 0.992 202 0% 138 37.7% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ENSG00000249246 0 genome.wustl.edu 37 19 52562200 52562200 + RNA SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000514408 -1 known NULL 0.000 83 0% 29 37.9% - - - - - - ZNF841 284371 genome.wustl.edu 37 19 52569286 52569286 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136499.1 -1 validated p.R617* 0.000 268 0% 196 35.7% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF616 90317 genome.wustl.edu 37 19 52618207 52618207 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178523.3 -1 validated p.R737I 0.004 388 0.3% 260 37.3% - - benign(0) tolerated(0.18) neutral(0.056) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF616 90317 genome.wustl.edu 37 19 52618630 52618630 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178523.3 -1 validated p.R596Q 0.028 311 0% 233 12% - - benign(0.054) tolerated(0.92) neutral(0.004) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF616 90317 genome.wustl.edu 37 19 52627272 52627272 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178523.3 -1 validated p.E15* 0.653 338 0% 161 19.9% - - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF836 162962 genome.wustl.edu 37 19 52658375 52658375 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001102657.1 -1 provisional p.R854I 0.001 305 0% 236 36.9% - - probably_damaging(1) tolerated(0.22) deleterious(0.542) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF836 162962 genome.wustl.edu 37 19 52658888 52658888 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001102657.1 -1 provisional p.K683T 0.009 311 0% 162 35.8% - - benign(0.003) tolerated(0.63) neutral(0.004) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF836 162962 genome.wustl.edu 37 19 52660058 52660058 + Missense_Mutation SNP C C T rs190793359 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001102657.1 -1 provisional p.R293Q 0.220 286 0% 222 37.8% - - benign(0.003) tolerated(0.54) neutral(0.007) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF480 147657 genome.wustl.edu 37 19 52803646 52803646 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144684.2 +1 validated e1-1 0.000 532 0% 223 33.6% - - - - - - ZNF610 162963 genome.wustl.edu 37 19 52856965 52856965 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173530.2 +1 validated p.E32K 0.891 431 0% 211 14.7% - - probably_damaging(0.99) deleterious(0.04) deleterious(0.790) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF610 162963 genome.wustl.edu 37 19 52869757 52869757 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173530.2 +1 validated p.E376K 0.025 210 0.5% 122 15.6% - - probably_damaging(0.988) deleterious(0.04) deleterious(0.786) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF534 147658 genome.wustl.edu 37 19 52941237 52941237 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143939.1 +1 validated p.Q188R 0.000 165 0% 108 37% - - probably_damaging(0.975) tolerated(0.59) neutral(0.421) superfamily_SSF57667 ZNF534 147658 genome.wustl.edu 37 19 52942001 52942001 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143939.1 +1 validated p.L443 0.000 278 0% 186 30.6% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF701 55762 genome.wustl.edu 37 19 53079183 53079183 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018260.2 +1 validated p.F17L 0.613 755 0% 383 19.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF83 55769 genome.wustl.edu 37 19 53116456 53116456 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105549.1 -1 validated p.E454D 1.000 243 0% 191 35.1% - - benign(0.363) deleterious(0) deleterious(0.560) superfamily_C2H2 and C2HC zinc fingers ENSG00000245932 0 genome.wustl.edu 37 19 53302273 53302273 + RNA SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000500436 +1 known NULL 0.001 161 0% 108 37% - - - - - - ZNF468 90333 genome.wustl.edu 37 19 53352436 53352436 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008801.1 -1 validated p.E16* 0.786 757 0% 459 35.3% - - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) LOC388559 388559 genome.wustl.edu 37 19 53410150 53410150 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_496322.5 -1 model p.F457L 0.009 434 0% 278 14.7% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC388559 388559 genome.wustl.edu 37 19 53410619 53410619 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_496322.5 -1 model p.I301S 0.272 148 0% 90 41.1% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF160 90338 genome.wustl.edu 37 19 53572226 53572226 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001102603.1 -1 reviewed p.R521C 0.000 245 0% 184 32.6% - - benign(0.06) tolerated(0.18) neutral(0.060) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF160 90338 genome.wustl.edu 37 19 53572789 53572789 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001102603.1 -1 reviewed p.R333Q 0.012 262 0.4% 180 37.2% - - probably_damaging(0.999) tolerated(0.25) deleterious(0.527) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF160 90338 genome.wustl.edu 37 19 53572964 53572964 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001102603.1 -1 reviewed p.H275N 0.859 380 0% 238 22.7% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF160 90338 genome.wustl.edu 37 19 53573203 53573203 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001102603.1 -1 reviewed p.F195Y 0.001 403 0% 256 36.3% - - possibly_damaging(0.768) tolerated(0.82) neutral(0.285) NULL ZNF347 84671 genome.wustl.edu 37 19 53643605 53643605 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032584.2 -1 validated p.L826I 0.000 399 0% 264 36.7% - - benign(0.036) - - NULL ZNF347 84671 genome.wustl.edu 37 19 53652585 53652585 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032584.2 -1 validated p.F17 0.955 484 0% 251 12.4% - - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF665 79788 genome.wustl.edu 37 19 53668018 53668018 + Silent SNP G G A rs184736845 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024733.3 -1 provisional p.C575 0.668 423 0.2% 261 37.2% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF677 342926 genome.wustl.edu 37 19 53741132 53741132 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182609.2 -1 provisional p.R283I 0.011 199 0.5% 133 29.3% - - possibly_damaging(0.456) tolerated(0.92) neutral(0.149) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF761 388561 genome.wustl.edu 37 19 53958640 53958640 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008401.3 +1 validated p.T293 0.974 355 0% 227 36.6% - - - - - superfamily_C2H2 and C2HC zinc fingers ZNF813 126017 genome.wustl.edu 37 19 53995214 53995214 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004301.3 +1 validated p.E576D 1.000 212 0% 150 42.7% - - benign(0.001) deleterious(0.04) neutral(0.349) superfamily_SSF57667 MIR518C 574477 genome.wustl.edu 37 19 54212053 54212053 + RNA SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000384822 +1 known NULL 0.030 604 0% 273 37.7% - - - - - - MIR518A1 574488 genome.wustl.edu 37 19 54234315 54234315 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000385068 +1 known NULL 0.008 255 0% 115 44.3% - - - - - - MIR518A2 574491 genome.wustl.edu 37 19 54242607 54242607 + RNA SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000384966 +1 known NULL 0.065 293 0% 153 36.6% - - - - - - NLRP12 91662 genome.wustl.edu 37 19 54314117 54314117 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144687.2 -1 reviewed p.D266Y 0.899 62 0% 52 38.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_NACHT CACNG7 59284 genome.wustl.edu 37 19 54416264 54416264 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031896.3 +1 reviewed p.R60Q 0.999 68 0% 67 28.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PMP22_Claudin CACNG6 59285 genome.wustl.edu 37 19 54501553 54501553 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145814.1 +1 reviewed p.R131I 1.000 225 0% 120 32.5% - - probably_damaging(0.998) tolerated(0.15) deleterious(0.716) NULL LENG1 79165 genome.wustl.edu 37 19 54659656 54659656 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024316.1 -1 provisional p.R200* 0.989 42 0% 41 48.8% - - - - - NULL TMC4 147798 genome.wustl.edu 37 19 54673291 54673291 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145303.1 -1 validated p.R140Q 0.000 145 0% 94 22.3% - - benign(0) tolerated(0.62) neutral(0.004) NULL LILRB5 10990 genome.wustl.edu 37 19 54754723 54754723 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001081442.1 -1 reviewed p.T568N 0.000 336 0% 168 32.1% - - probably_damaging(0.993) tolerated(0.07) deleterious(0.769) NULL LILRB2 10288 genome.wustl.edu 37 19 54780274 54780274 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005874.3 -1 reviewed p.A507V 0.001 422 0% 233 19.7% - - possibly_damaging(0.897) deleterious(0) deleterious(0.798) NULL LILRA5 353514 genome.wustl.edu 37 19 54823208 54823208 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021250.2 -1 reviewed p.G112E 0.027 989 0% 526 32.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin TTYH1 57348 genome.wustl.edu 37 19 54942319 54942319 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005367.1 +1 reviewed p.G359* 1.000 99 0% 68 23.5% - - - - - HMMPfam_Tweety LENG8 114823 genome.wustl.edu 37 19 54967638 54967638 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052925.2 +1 validated p.G480V 1.000 130 0% 38 34.2% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL LILRA1 11024 genome.wustl.edu 37 19 55112272 55112272 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006863.1 +1 provisional p.R487I 0.001 427 0% 317 13.9% - - probably_damaging(0.969) deleterious(0) deleterious(0.856) NULL KIR2DL1 3802 genome.wustl.edu 37 19 55285010 55285010 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014218.2 +1 reviewed p.R99I 0.001 1031 0.1% 662 18.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ig,superfamily_SSF48726 KIR2DL1 3802 genome.wustl.edu 37 19 55294967 55294967 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014218.2 +1 reviewed p.G283R 0.004 1321 0% 735 24.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIR2DL1 3802 genome.wustl.edu 37 19 55295182 55295182 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014218.2 +1 reviewed p.P322S 0.000 1002 0% 510 24.9% - - possibly_damaging(0.481) tolerated(0.23) neutral(0.201) NULL KIR2DL4 3805 genome.wustl.edu 37 19 55315134 55315134 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080770.1 +1 reviewed p.L10 0.011 633 0% 457 27.6% - - - - - NULL KIR3DL1 3811 genome.wustl.edu 37 19 55331352 55331352 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013289.2 +1 reviewed p.F180L 0.002 881 0% 546 35.3% - - benign(0.046) deleterious(0) neutral(0.447) HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin KIR2DS4 3809 genome.wustl.edu 37 19 55346545 55346545 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000339924 +1 known p.L16M 0.222 1056 0% 666 36.9% - - benign(0.222) deleterious(0.01) neutral(0.428) NULL NLRP7 199713 genome.wustl.edu 37 19 55449588 55449588 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001127255.1 -1 reviewed p.P651 0.000 89 0% 46 28.3% - - - - - superfamily_RNI-like EPS8L1 54869 genome.wustl.edu 37 19 55593161 55593161 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133180.2 +1 reviewed p.F265 0.441 45 0% 29 24.1% - - - - - NULL TNNI3 7137 genome.wustl.edu 37 19 55666124 55666124 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000363.4 -1 reviewed p.T119 0.822 370 0% 237 31.2% - - - - - HMMPfam_Troponin PTPRH 5794 genome.wustl.edu 37 19 55696967 55696967 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002842.3 -1 validated p.V989I 0.959 102 0% 73 35.6% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PPP6R1 22870 genome.wustl.edu 37 19 55748191 55748191 + Splice_Site SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014931.3 -1 validated e16-2 1.000 266 0% 203 39.9% - - - - - - NAT14 57106 genome.wustl.edu 37 19 55997869 55997869 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020378.2 +1 provisional p.R56H 1.000 17 0% 17 52.9% - - possibly_damaging(0.499) deleterious(0) deleterious(0.611) superfamily_Acyl_CoA_acyltransferase SSC5D 284297 genome.wustl.edu 37 19 56012409 56012409 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144950.1 +1 provisional p.D876Y 0.127 179 0% 98 32.7% - - possibly_damaging(0.677) deleterious(0.01) deleterious(0.647) superfamily_SRCR-like CCDC106 29903 genome.wustl.edu 37 19 56160594 56160594 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013301.2 +1 validated p.I19V 1.000 135 0% 97 34% - - benign(0.373) deleterious(0) deleterious(0.564) NULL NLRP9 338321 genome.wustl.edu 37 19 56223929 56223929 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_176820.2 -1 reviewed p.D843E 0.000 189 0% 123 45.5% - - benign(0.001) tolerated(1) - HMMSmart_SM00368,superfamily_RNI-like NLRP11 204801 genome.wustl.edu 37 19 56329524 56329524 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145007.3 -1 validated p.S6Y 0.000 171 0% 101 30.7% - - possibly_damaging(0.914) tolerated(0.75) neutral(0.367) superfamily_DEATH domain NLRP4 147945 genome.wustl.edu 37 19 56369290 56369290 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_134444.4 +1 validated p.I177 0.000 121 0% 82 39% - - - - - HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases NLRP4 147945 genome.wustl.edu 37 19 56369438 56369438 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_134444.4 +1 validated p.L227V 0.155 113 0% 59 25.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases NLRP4 147945 genome.wustl.edu 37 19 56369708 56369708 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_134444.4 +1 validated p.D317Y 0.003 134 0% 76 18.4% - - possibly_damaging(0.775) deleterious(0) deleterious(0.733) HMMPfam_NACHT NLRP4 147945 genome.wustl.edu 37 19 56370057 56370057 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_134444.4 +1 validated p.L433P 0.730 173 0% 125 31.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NLRP4 147945 genome.wustl.edu 37 19 56388524 56388524 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_134444.4 +1 validated p.E896D 0.011 547 0% 351 36.5% - - possibly_damaging(0.919) tolerated(0.06) deleterious(0.692) HMMSmart_SM00368,superfamily_RNI-like NLRP13 126204 genome.wustl.edu 37 19 56424053 56424053 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_176810.2 -1 validated p.N377I 0.000 340 0% 134 13.4% - - possibly_damaging(0.952) deleterious(0.01) deleterious(0.801) HMMPfam_NACHT NLRP5 126206 genome.wustl.edu 37 19 56539529 56539529 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153447.4 +1 reviewed p.D644Y 0.002 123 0% 93 33.3% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL ZSCAN5B 342933 genome.wustl.edu 37 19 56702248 56702248 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080456.2 -1 validated p.P233T 0.000 681 0% 452 38.1% - - benign(0.001) tolerated(0.54) neutral(0.007) NULL LOC646698 646698 genome.wustl.edu 37 19 56758347 56758347 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001725568.1 +1 model p.E325D 0.000 242 0% 129 17.1% - - - - - NULL ZNF582 147948 genome.wustl.edu 37 19 56895345 56895345 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144690.1 -1 provisional p.I481V 0.000 730 0% 409 37.4% - - benign(0) tolerated(1) - NULL ZNF583 147949 genome.wustl.edu 37 19 56935058 56935058 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152478.2 +1 validated p.R344I 0.968 520 0% 339 30.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF471 57573 genome.wustl.edu 37 19 57036704 57036704 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020813.2 +1 validated p.R423I 1.000 338 0% 148 33.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF470 388566 genome.wustl.edu 37 19 57089047 57089047 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001668.3 +1 validated p.R417I 0.997 269 0% 173 34.7% - - probably_damaging(0.972) tolerated(0.25) neutral(0.451) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZIM2 23619 genome.wustl.edu 37 19 57286199 57286199 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015363.4 -1 reviewed p.L481I 0.815 143 0% 118 34.7% - - unknown(0) deleterious(0) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZIM2 23619 genome.wustl.edu 37 19 57286283 57286283 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015363.4 -1 reviewed p.R453C 0.000 125 0% 92 10.9% - - unknown(0) deleterious(0.04) - NULL ZIM2 23619 genome.wustl.edu 37 19 57286322 57286322 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015363.4 -1 reviewed p.L440I 0.001 108 0% 75 10.7% - - unknown(0) deleterious(0.03) - NULL USP29 57663 genome.wustl.edu 37 19 57641241 57641241 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020903.2 +1 validated p.E400* 0.000 152 0% 119 15.1% - - - - - HMMPfam_UCH,superfamily_SSF54001 USP29 57663 genome.wustl.edu 37 19 57641963 57641963 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020903.2 +1 validated p.I640 0.000 141 0% 75 33.3% - - - - - HMMPfam_UCH,superfamily_SSF54001 USP29 57663 genome.wustl.edu 37 19 57642298 57642298 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020903.2 +1 validated p.P752H 0.009 86 0% 43 46.5% - - probably_damaging(0.993) tolerated(0.05) deleterious(0.795) HMMPfam_UCH,superfamily_SSF54001 ZNF264 9422 genome.wustl.edu 37 19 57723746 57723746 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003417.4 +1 reviewed p.F427 0.004 252 0% 137 36.5% - - - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF264 9422 genome.wustl.edu 37 19 57724224 57724224 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003417.4 +1 reviewed p.E587* 0.708 151 0% 99 37.4% - - - - - NULL ZNF264 9422 genome.wustl.edu 37 19 57724230 57724230 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003417.4 +1 reviewed p.L589I 0.828 146 0% 92 28.3% - - possibly_damaging(0.68) tolerated(0.34) neutral(0.266) NULL LOC100288211 100288211 genome.wustl.edu 37 19 57828599 57828599 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343660.1 -1 model p.S111Y 1.000 141 0% 58 13.8% - - - - - HMMPfam_DUF862 LOC100288211 100288211 genome.wustl.edu 37 19 57828630 57828630 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343660.1 -1 model p.H101N 1.000 192 0% 79 11.4% - - - - - HMMPfam_DUF862 ZNF304 57343 genome.wustl.edu 37 19 57868469 57868469 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020657.2 +1 validated p.R411I 1.000 222 0% 133 33.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF304 57343 genome.wustl.edu 37 19 57868615 57868615 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020657.2 +1 validated p.D460Y 0.000 215 0% 163 25.2% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TRAPPC2P1 10597 genome.wustl.edu 37 19 57876566 57876566 + RNA SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_002166.1 +1 provisional NULL 0.140 182 0% 90 27.8% - - benign(0.027) tolerated(0.48) neutral(0.012) - ZNF547 284306 genome.wustl.edu 37 19 57888609 57888609 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173631.2 +1 validated p.C89R 0.000 245 0% 128 35.2% - - possibly_damaging(0.901) deleterious(0.01) deleterious(0.762) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 ZNF548 147694 genome.wustl.edu 37 19 57910836 57910836 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152909.3 +1 validated p.K394T 0.000 182 0% 122 34.4% - - benign(0.099) deleterious(0.01) neutral(0.413) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF17 7565 genome.wustl.edu 37 19 57932028 57932028 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006959.2 +1 validated p.E390K 0.000 224 0% 151 35.1% - - benign(0.035) tolerated(0.28) neutral(0.034) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000246220 0 genome.wustl.edu 37 19 57932851 57932851 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000501492 -1 known NULL 0.000 103 0% 54 38.9% - - - - - - ZNF749 388567 genome.wustl.edu 37 19 57956327 57956327 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001023561.2 +1 provisional p.R604K 0.001 204 0% 116 25.9% - - possibly_damaging(0.59) tolerated(0.54) neutral(0.211) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF549 256051 genome.wustl.edu 37 19 58049212 58049212 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153263.1 +1 provisional p.C267 1.000 150 0% 81 32.1% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF530 348327 genome.wustl.edu 37 19 58117105 58117105 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020880.3 +1 validated p.S71Y 0.018 124 0% 63 39.7% - - possibly_damaging(0.931) deleterious(0.04) deleterious(0.726) HMMSmart_KRAB ZNF134 7693 genome.wustl.edu 37 19 58131857 58131857 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003435.3 +1 provisional p.E124K 0.011 93 0% 73 37% - - benign(0.015) tolerated(0.67) neutral(0.003) NULL ZNF211 10520 genome.wustl.edu 37 19 58146083 58146083 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006385.3 +1 validated p.F72 0.001 752 0% 407 37.1% - - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZSCAN4 201516 genome.wustl.edu 37 19 58189966 58189966 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152677.2 +1 validated p.R332I 0.909 149 0% 72 37.5% - - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZSCAN4 201516 genome.wustl.edu 37 19 58190012 58190012 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152677.2 +1 validated p.K347N 0.833 128 0% 82 15.9% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF551 90233 genome.wustl.edu 37 19 58198791 58198791 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138347.3 +1 validated p.R367I 0.717 276 0% 182 36.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF154 7710 genome.wustl.edu 37 19 58213441 58213441 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001085384.1 -1 validated p.Q292H 0.955 314 0% 189 31.7% - - probably_damaging(0.974) tolerated(0.05) deleterious(0.761) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF671 79891 genome.wustl.edu 37 19 58232362 58232362 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024833.2 -1 validated p.T364 0.740 258 0% 140 35% - - - - - superfamily_SSF57667 ZNF671 79891 genome.wustl.edu 37 19 58232763 58232763 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024833.2 -1 validated p.S231G 0.000 263 0% 165 38.2% - - benign(0.073) tolerated(0.27) neutral(0.038) NULL ZNF776 284309 genome.wustl.edu 37 19 58264915 58264915 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173632.3 +1 validated p.E139D 0.054 158 0% 90 35.6% - - probably_damaging(0.995) tolerated(0.1) deleterious(0.744) superfamily_C2H2 and C2HC zinc fingers ZNF814 730051 genome.wustl.edu 37 19 58384467 58384467 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144989.1 -1 validated p.R764Q 0.127 319 0% 195 32.8% - - probably_damaging(0.983) tolerated(0.09) deleterious(0.726) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF418 147686 genome.wustl.edu 37 19 58437534 58437534 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_133460.1 -1 provisional p.R672I 0.000 221 0% 141 31.9% - - benign(0.088) deleterious(0) neutral(0.451) superfamily_SSF57667 ZNF256 10172 genome.wustl.edu 37 19 58453817 58453817 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005773.2 -1 validated p.D120G 0.004 577 0% 340 12.1% - - benign(0) tolerated(0.36) neutral(0.020) superfamily_C2H2 and C2HC zinc fingers ZNF606 80095 genome.wustl.edu 37 19 58489781 58489781 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025027.3 -1 validated p.R756I 1.000 311 0% 157 35.7% - - possibly_damaging(0.664) tolerated(0.16) neutral(0.294) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZSCAN18 65982 genome.wustl.edu 37 19 58601489 58601489 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145542.1 -1 validated p.R105H 0.839 52 0% 40 35% - - probably_damaging(0.999) tolerated(0.58) deleterious(0.495) HMMPfam_SCAN,HMMSmart_SCAN ZNF329 79673 genome.wustl.edu 37 19 58639951 58639951 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024620.3 -1 validated p.R307I 1.000 495 0% 275 29.5% - - possibly_damaging(0.437) deleterious(0) deleterious(0.587) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF584 201514 genome.wustl.edu 37 19 58921375 58921375 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173548.1 +1 provisional p.E29G 0.979 698 0% 434 33.6% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF584 201514 genome.wustl.edu 37 19 58927206 58927206 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000443917 +1 known p.S97P 0.002 51 0% 21 47.6% - - possibly_damaging(0.539) deleterious(0.02) deleterious(0.566) NULL ZNF584 201514 genome.wustl.edu 37 19 58928353 58928353 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173548.1 +1 provisional p.E156D 0.004 154 0% 109 33% - - benign(0.143) tolerated(0.06) neutral(0.335) superfamily_SSF57667 ZNF132 7691 genome.wustl.edu 37 19 58946028 58946028 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003433.3 -1 validated p.E261D 0.919 87 0% 54 44.4% - - benign(0.141) tolerated(0.09) neutral(0.308) superfamily_C2H2 and C2HC zinc fingers ZNF324B 388569 genome.wustl.edu 37 19 58967618 58967618 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207395.2 +1 validated p.R436H 0.953 38 0% 34 32.4% - - benign(0.001) tolerated(0.62) neutral(0.004) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF324B 388569 genome.wustl.edu 37 19 58967754 58967754 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207395.2 +1 validated p.F481 0.001 59 0% 59 28.8% - - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF324B 388569 genome.wustl.edu 37 19 58967899 58967899 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_207395.2 +1 validated p.R530C 0.002 65 0% 56 48.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SLC27A5 10998 genome.wustl.edu 37 19 59021365 59021365 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012254.2 -1 reviewed p.P302 0.040 161 0% 108 34.3% - - - - - HMMPfam_AMP-binding,PatternScan_AMP_BINDING,superfamily_Acetyl-CoA synthetase-like ZBTB45 84878 genome.wustl.edu 37 19 59028424 59028424 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032792.2 -1 provisional p.R206Q 0.002 24 0% 25 32% - - benign(0.139) tolerated(0.07) neutral(0.331) NULL CHMP2A 27243 genome.wustl.edu 37 19 59063275 59063275 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014453.2 -1 validated p.S180L 1.000 333 0% 230 35.2% - - benign(0.045) tolerated(0.29) neutral(0.032) HMMPfam_Snf7 CHMP2A 27243 genome.wustl.edu 37 19 59063276 59063276 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014453.2 -1 validated p.S180A 1.000 334 0% 235 36.2% - - benign(0) tolerated(0.95) - HMMPfam_Snf7 DEFB129 140881 genome.wustl.edu 37 20 207950 207950 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080831.2 +1 validated p.I7 0.999 315 0.3% 169 25.4% - - - - - NULL C20orf96 140680 genome.wustl.edu 37 20 264666 264666 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153269.1 -1 predicted p.E82* 0.010 586 0% 345 13.6% - - - - - NULL TRIB3 57761 genome.wustl.edu 37 20 368761 368761 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021158.3 +1 reviewed p.R36Q 0.224 85 0% 61 31.1% - - benign(0.033) deleterious(0.02) neutral(0.385) NULL TBC1D20 128637 genome.wustl.edu 37 20 419792 419792 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144628.2 -1 validated p.E306K 0.893 209 0% 138 41.3% - - benign(0.001) tolerated(1) - NULL FAM110A 83541 genome.wustl.edu 37 20 826309 826309 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042353.1 +1 validated p.R288W 0.013 63 0% 56 10.7% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TMEM74B 55321 genome.wustl.edu 37 20 1161728 1161728 + Missense_Mutation SNP C C T rs191499293 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018354.1 -1 provisional p.A179T 0.998 42 0% 39 38.5% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL C20orf202 400831 genome.wustl.edu 37 20 1187596 1187596 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009612.2 +1 predicted p.S73 0.010 53 0% 50 26% - - - - - NULL RAD21L1 642636 genome.wustl.edu 37 20 1209144 1209144 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136566.2 +1 validated p.K16R 1.000 169 0% 95 34.7% - - benign(0.39) tolerated(0.3) neutral(0.153) HMMPfam_Rad21_Rec8_N RAD21L1 642636 genome.wustl.edu 37 20 1234962 1234962 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136566.2 +1 validated p.R511K 1.000 143 0% 90 41.1% - - possibly_damaging(0.61) tolerated(0.1) deleterious(0.498) HMMPfam_Rad21_Rec8 NSFL1C 55968 genome.wustl.edu 37 20 1433782 1433782 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016143.3 -1 reviewed p.H181N 1.000 234 0% 144 40.3% - - benign(0.053) tolerated(0.49) neutral(0.014) HMMSmart_SM00553,superfamily_NSFL1 (p97 ATPase) cofactor p47 SEP domain PDYN 5173 genome.wustl.edu 37 20 1961400 1961400 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024411.2 -1 reviewed p.L112I 0.540 180 0% 156 30.1% - - possibly_damaging(0.465) tolerated(0.09) neutral(0.450) NULL TGM3 7053 genome.wustl.edu 37 20 2293602 2293602 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003245.3 +1 reviewed p.R200H 0.997 223 0% 145 40% - - probably_damaging(0.999) tolerated(0.13) deleterious(0.743) superfamily_Cysteine proteinases TMC2 117532 genome.wustl.edu 37 20 2575612 2575612 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080751.2 +1 validated p.S359P 1.000 217 0% 159 39% - - possibly_damaging(0.891) deleterious(0.04) deleterious(0.700) NULL NOP56 10528 genome.wustl.edu 37 20 2635484 2635484 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006392.2 +1 reviewed p.R154C 1.000 136 0% 88 33% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NOP56 10528 genome.wustl.edu 37 20 2637452 2637452 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006392.2 +1 reviewed p.R398* 1.000 274 0% 142 36.6% - - - - - HMMPfam_Nop,superfamily_SSF89124 PTPRA 5786 genome.wustl.edu 37 20 3002031 3002031 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002836.3 +1 reviewed p.T373N 0.999 372 0% 219 33.8% - - benign(0.272) tolerated(0.14) neutral(0.279) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 FASTKD5 60493 genome.wustl.edu 37 20 3129104 3129104 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021826.4 -1 validated p.D205Y 0.959 87 0% 46 26.1% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ProSAPiP1 9762 genome.wustl.edu 37 20 3147556 3147556 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014731.2 -1 validated p.R85H 1.000 52 0% 40 37.5% - - possibly_damaging(0.807) tolerated(0.19) neutral(0.353) NULL SLC4A11 83959 genome.wustl.edu 37 20 3212013 3212013 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032034.3 -1 reviewed p.R320H 0.000 133 0% 98 24.5% - - benign(0.002) tolerated(0.28) neutral(0.032) NULL SLC4A11 83959 genome.wustl.edu 37 20 3214922 3214922 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032034.3 -1 reviewed p.A126 0.051 156 0% 96 40.6% - - - - - superfamily_Phoshotransferase/anion transport protein C20orf194 25943 genome.wustl.edu 37 20 3297423 3297423 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009984.1 -1 validated p.E496* 1.000 185 0% 109 31.2% - - - - - NULL ATRN 8455 genome.wustl.edu 37 20 3619484 3619484 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139321.2 +1 reviewed p.R1318* 1.000 343 0.3% 139 46.8% - - - - - NULL SIGLEC1 6614 genome.wustl.edu 37 20 3670697 3670697 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000419548 -1 known p.A416T 0.063 45 0% 38 39.5% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin CDC25B 994 genome.wustl.edu 37 20 3782972 3782972 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021873.2 +1 reviewed p.I381 0.729 130 0% 71 33.8% - - - - - HMMPfam_M-inducer_phosp SMOX 54498 genome.wustl.edu 37 20 4164256 4164256 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175839.1 +1 reviewed p.E495D 1.000 51 0% 60 30% - - benign(0.09) tolerated(0.53) neutral(0.014) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain RASSF2 9770 genome.wustl.edu 37 20 4770246 4770246 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014737.2 -1 reviewed p.F212C 1.000 353 0% 188 29.8% - - probably_damaging(0.957) deleterious(0) deleterious(0.845) HMMPfam_RA,HMMSmart_RA GPCPD1 56261 genome.wustl.edu 37 20 5560680 5560680 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019593.3 -1 validated p.K149N 1.000 175 0% 84 33.3% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL CHGB 1114 genome.wustl.edu 37 20 5904099 5904099 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001819.2 +1 reviewed p.E437K 0.855 143 0.7% 56 37.5% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_Granin TRMT6 51605 genome.wustl.edu 37 20 5927140 5927140 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015939.3 -1 reviewed p.N56 0.772 370 0% 212 34.9% - - - - - HMMPfam_Gcd10p MCM8 84515 genome.wustl.edu 37 20 5948132 5948132 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032485.4 +1 reviewed p.R309Q 1.000 353 0.3% 164 30.5% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMSmart_SM00350,superfamily_Nucleic acid-binding proteins MCM8 84515 genome.wustl.edu 37 20 5974312 5974312 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032485.4 +1 reviewed p.R801W 1.000 99 0% 39 23.1% - - possibly_damaging(0.739) tolerated(0.1) deleterious(0.557) NULL LRRN4 164312 genome.wustl.edu 37 20 6021785 6021785 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152611.3 -1 validated p.S702 0.001 14 0% 10 40% - - - - - NULL FERMT1 55612 genome.wustl.edu 37 20 6093147 6093147 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017671.4 -1 reviewed p.S170Y 1.000 430 0% 170 31.8% - - possibly_damaging(0.637) tolerated(0.07) deleterious(0.542) HMMSmart_SM00295 LAMP5 24141 genome.wustl.edu 37 20 9510428 9510428 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012261.2 +1 validated p.Q268H 1.000 177 0% 116 41.4% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ANKRD5 63926 genome.wustl.edu 37 20 10036279 10036279 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022096.4 +1 validated p.R768* 0.003 175 0% 93 33.3% - - - - - NULL SNAP25 6616 genome.wustl.edu 37 20 10279989 10279989 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003081.2 +1 reviewed p.R161C 1.000 196 0% 66 13.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SNARE,HMMSmart_SM00397 JAG1 182 genome.wustl.edu 37 20 10620280 10620280 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000214.2 -1 reviewed p.A1175T 0.668 691 0% 394 40.4% - - benign(0.001) tolerated(0.28) neutral(0.032) NULL JAG1 182 genome.wustl.edu 37 20 10623234 10623234 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000214.2 -1 reviewed p.Q825R 1.000 204 0% 119 33.6% - - probably_damaging(0.963) tolerated(0.15) deleterious(0.647) HMMSmart_EGF_CA,HMMPfam_EGF,PatternScan_EGF_CA,superfamily_SSF57196 JAG1 182 genome.wustl.edu 37 20 10626069 10626069 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000214.2 -1 reviewed p.R683H 0.996 199 0% 110 40% - - probably_damaging(0.992) tolerated(0.44) neutral(0.460) PatternScan_ASX_HYDROXYL,HMMSmart_EGF_CA,HMMPfam_EGF,PatternScan_EGF_CA,superfamily_SSF57196 BTBD3 22903 genome.wustl.edu 37 20 11903532 11903532 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014962.2 +1 validated p.D263N 1.000 182 0% 100 43% - - possibly_damaging(0.858) deleterious(0) deleterious(0.776) NULL SPTLC3 55304 genome.wustl.edu 37 20 12989992 12989992 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018327.2 +1 validated p.S26I 0.000 299 0.3% 97 38.1% - - possibly_damaging(0.843) tolerated(0.07) deleterious(0.642) NULL ESF1 51575 genome.wustl.edu 37 20 13756670 13756670 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016649.3 -1 provisional p.K295T 1.000 1091 0% 644 28.7% - - benign(0) tolerated(0.25) neutral(0.037) NULL FLRT3 23767 genome.wustl.edu 37 20 14307537 14307537 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013281.2 -1 reviewed p.L206I 1.000 132 0% 91 23.1% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_SSF52058 FLRT3 23767 genome.wustl.edu 37 20 14307816 14307816 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013281.2 -1 reviewed p.E113* 1.000 445 0% 192 36.5% - - - - - superfamily_SSF52058 MACROD2 140733 genome.wustl.edu 37 20 15967782 15967782 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080676.5 +1 validated p.E378* 1.000 404 0% 155 35.5% - - - - - NULL KIF16B 55614 genome.wustl.edu 37 20 16316614 16316614 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024704.3 -1 validated p.R1223H 1.000 213 0% 103 39.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain KIF16B 55614 genome.wustl.edu 37 20 16360168 16360168 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024704.3 -1 validated p.E827K 0.328 197 0% 115 33% - - possibly_damaging(0.455) deleterious(0.02) deleterious(0.532) NULL BFSP1 631 genome.wustl.edu 37 20 17479481 17479481 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001195.3 -1 reviewed p.E314K 1.000 189 0.5% 168 36.3% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL SNX5 27131 genome.wustl.edu 37 20 17923792 17923792 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014426.2 -1 reviewed p.L376I 1.000 275 0% 228 30.3% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Vps5 CSRP2BP 57325 genome.wustl.edu 37 20 18142572 18142572 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020536.4 +1 reviewed p.R264Q 1.000 189 0% 75 14.7% - - probably_damaging(0.994) deleterious(0.04) deleterious(0.801) NULL DZANK1 55184 genome.wustl.edu 37 20 18435994 18435994 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099407.1 -1 validated p.Q92P 1.000 301 0% 156 35.9% - - possibly_damaging(0.935) deleterious(0.01) deleterious(0.786) NULL DZANK1 55184 genome.wustl.edu 37 20 18440897 18440897 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099407.1 -1 validated p.L55I 0.987 226 0% 130 36.2% - - benign(0) tolerated(0.31) neutral(0.027) NULL SEC23B 10483 genome.wustl.edu 37 20 18507139 18507139 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006363.4 +1 reviewed p.E319D 1.000 241 0% 133 35.3% - - benign(0.002) tolerated(1) - HMMPfam_Sec23_trunk,superfamily_SSF53300,superfamily_SSF81995 RIN2 54453 genome.wustl.edu 37 20 19955609 19955609 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018993.2 +1 reviewed p.P314S 0.981 75 0% 46 37% - - probably_damaging(1) tolerated(0.35) deleterious(0.520) NULL NAA20 51126 genome.wustl.edu 37 20 20006396 20006396 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016100.3 +1 validated p.E52* 1.000 318 0% 143 36.4% - - - - - HMMPfam_Acetyltransf_1,superfamily_Acyl-CoA N-acyltransferases (Nat) CRNKL1 51340 genome.wustl.edu 37 20 20016860 20016860 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016652.4 -1 reviewed p.D842 0.011 439 0% 189 19.6% - - - - - NULL C20orf26 26074 genome.wustl.edu 37 20 20269267 20269267 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015585.3 +1 validated p.F937 0.141 156 0% 74 35.1% - - - - - superfamily_FAD/NAD(P)-binding domain C20orf26 26074 genome.wustl.edu 37 20 20278871 20278871 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015585.3 +1 validated p.R1088Q 0.992 224 0% 144 31.2% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL XRN2 22803 genome.wustl.edu 37 20 21328817 21328817 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012255.3 +1 reviewed p.H567N 1.000 664 0% 245 38% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PAX1 5075 genome.wustl.edu 37 20 21695382 21695382 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006192.3 +1 validated p.D516N 0.000 86 0% 42 38.1% - - benign(0) tolerated(0.24) neutral(0.037) NULL SSTR4 6754 genome.wustl.edu 37 20 23016664 23016664 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001052.2 +1 validated p.A182T 0.131 62 0% 46 28.3% - - benign(0) tolerated(0.06) neutral(0.323) HMMPfam_7tm_1,superfamily_SSF81321 CSTL1 128817 genome.wustl.edu 37 20 23421109 23421109 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138283.1 +1 reviewed p.R69* 0.013 280 0.7% 157 40.1% - - - - - HMMPfam_Cystatin,HMMSmart_CY,superfamily_SSF54403 CST11 140880 genome.wustl.edu 37 20 23433292 23433292 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_130794.1 -1 reviewed p.D53N 0.000 189 0% 114 36% - - benign(0.052) tolerated(0.34) neutral(0.026) HMMPfam_Cystatin,HMMSmart_SM00043,superfamily_Cystatin/monellin CST2 1470 genome.wustl.edu 37 20 23807200 23807200 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001322.2 -1 reviewed p.G33V 0.009 213 0% 158 25.9% - - possibly_damaging(0.862) deleterious(0.01) deleterious(0.739) HMMPfam_Cystatin,HMMSmart_CY,superfamily_SSF54403 ACSS1 84532 genome.wustl.edu 37 20 25000740 25000740 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032501.2 -1 reviewed p.F384L 1.000 200 0% 146 26% - - benign(0.119) tolerated(0.33) neutral(0.034) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ENSG00000202414 0 genome.wustl.edu 37 20 25195393 25195393 + RNA SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000365544 +1 novel NULL 0.368 32 0% 37 37.8% - - - - - - ID1 3397 genome.wustl.edu 37 20 30193445 30193445 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002165.2 +1 reviewed p.Q85 1.000 51 0% 38 36.8% - - - - - HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain MYLK2 85366 genome.wustl.edu 37 20 30409534 30409534 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033118.3 +1 reviewed p.I256V 1.000 63 0% 25 44% - - benign(0.02) tolerated(0.57) neutral(0.007) NULL TTLL9 164395 genome.wustl.edu 37 20 30526965 30526965 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008409.2 +1 provisional p.R380Q 1.000 196 0% 96 43.8% - - possibly_damaging(0.597) tolerated(0.22) neutral(0.248) NULL TM9SF4 9777 genome.wustl.edu 37 20 30730877 30730877 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014742.3 +1 validated p.F207 1.000 278 0% 155 43.2% - - - - - HMMPfam_EMP70 DNMT3B 1789 genome.wustl.edu 37 20 31383227 31383227 + Missense_Mutation SNP G G A rs148132847 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006892.3 +1 reviewed p.R380Q 0.325 255 0% 170 36.5% - - benign(0.167) tolerated(0.29) neutral(0.044) NULL MAPRE1 22919 genome.wustl.edu 37 20 31427611 31427611 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012325.2 +1 reviewed p.K182N 1.000 147 0% 102 44.1% - - probably_damaging(0.966) tolerated(0.43) neutral(0.421) NULL BPIFB6 128859 genome.wustl.edu 37 20 31625516 31625516 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_174897.2 +1 validated p.S273F 0.974 43 0% 42 45.2% - - benign(0.055) tolerated(0.75) neutral(0.005) HMMSmart_BPI2,superfamily_Bactericidal_perm-incr_a/b_dom BPIFB6 128859 genome.wustl.edu 37 20 31627288 31627288 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_174897.2 +1 validated p.R346W 0.000 151 0% 95 17.9% - - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2,superfamily_Bactericidal_perm-incr_a/b_dom BPIFB3 359710 genome.wustl.edu 37 20 31661400 31661400 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182658.1 +1 provisional p.V474M 1.000 273 0% 121 35.5% - - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) HMMSmart_BPI2 BPIFA2 140683 genome.wustl.edu 37 20 31760799 31760799 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080574.2 +1 validated p.L73 0.000 261 0% 121 45.5% - - - - - HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal_perm-incr_a/b_dom SNTA1 6640 genome.wustl.edu 37 20 31996570 31996570 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003098.2 -1 reviewed p.Q454H 1.000 91 0% 82 35.4% - - possibly_damaging(0.886) deleterious(0.01) deleterious(0.752) NULL CBFA2T2 9139 genome.wustl.edu 37 20 32217603 32217603 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005093.3 +1 reviewed p.R380C 1.000 196 0% 98 28.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NHR2 CBFA2T2 9139 genome.wustl.edu 37 20 32224449 32224449 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005093.3 +1 reviewed p.S420Y 1.000 152 0% 103 36.9% - - probably_damaging(0.956) deleterious(0.01) deleterious(0.805) NULL E2F1 1869 genome.wustl.edu 37 20 32264613 32264613 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005225.2 -1 reviewed p.F413 0.984 45 0% 23 21.7% - - - - - NULL CHMP4B 128866 genome.wustl.edu 37 20 32439904 32439904 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_176812.4 +1 reviewed p.E169* 1.000 322 0% 180 23.3% - - - - - HMMPfam_Snf7 ITCH 83737 genome.wustl.edu 37 20 33037249 33037249 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031483.4 +1 reviewed p.E392* 1.000 559 0% 330 39.7% - - - - - superfamily_WW domain GSS 2937 genome.wustl.edu 37 20 33517301 33517301 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000178.2 -1 reviewed p.E402K 0.089 246 0% 153 35.3% - - benign(0) tolerated(0.32) neutral(0.024) HMMPfam_GSH_synth_ATP,superfamily_SSF56059 TRPC4AP 26133 genome.wustl.edu 37 20 33594249 33594249 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015638.2 -1 validated p.T606A 1.000 326 0.3% 201 32.3% - - possibly_damaging(0.619) tolerated(0.1) deleterious(0.502) NULL TRPC4AP 26133 genome.wustl.edu 37 20 33645345 33645345 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015638.2 -1 validated p.T148 0.995 194 0% 99 34.3% - - - - - NULL PROCR 10544 genome.wustl.edu 37 20 33764528 33764528 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006404.3 +1 reviewed p.S210L 0.668 360 0% 254 37.8% - - possibly_damaging(0.703) deleterious(0.05) deleterious(0.598) NULL MMP24 10893 genome.wustl.edu 37 20 33842430 33842430 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006690.3 +1 reviewed p.G230 0.001 312 0.3% 236 38.6% - - - - - "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" FAM83C 128876 genome.wustl.edu 37 20 33879640 33879640 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178468.4 -1 validated p.K156N 1.000 65 0% 55 27.3% - - benign(0.122) tolerated(0.22) neutral(0.052) HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease CEP250 11190 genome.wustl.edu 37 20 34065909 34065909 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000425096 +1 known p.S206* 0.414 105 0% 62 38.7% - - unknown(0) tolerated(0.42) - NULL CEP250 11190 genome.wustl.edu 37 20 34078565 34078565 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007186.3 +1 reviewed p.E897K 0.903 233 0% 98 23.5% - - possibly_damaging(0.525) deleterious(0.03) deleterious(0.541) NULL CEP250 11190 genome.wustl.edu 37 20 34084494 34084494 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007186.3 +1 reviewed p.R1086C 0.997 95 0% 60 35% - - probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL CEP250 11190 genome.wustl.edu 37 20 34085642 34085642 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007186.3 +1 reviewed p.T1134M 0.000 25 0% 27 25.9% - - probably_damaging(0.993) deleterious(0.01) deleterious(0.856) NULL CEP250 11190 genome.wustl.edu 37 20 34092410 34092410 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007186.3 +1 reviewed p.E2071 0.009 104 0% 41 22% - - - - - NULL RBM39 9584 genome.wustl.edu 37 20 34317273 34317273 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_184234.1 -1 reviewed p.R126Q 1.000 352 0% 175 16.6% - - unknown(0) tolerated(0.11) - NULL EPB41L1 2036 genome.wustl.edu 37 20 34806874 34806874 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012156.2 +1 reviewed p.S782F 1.000 81 0% 49 36.7% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_4_1_CTD EPB41L1 2036 genome.wustl.edu 37 20 34809829 34809829 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012156.2 +1 reviewed p.I828T 1.000 133 0% 80 30% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_4_1_CTD C20orf24 55969 genome.wustl.edu 37 20 35240690 35240690 + RNA SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_026562.1 +1 validated NULL 0.495 172 0% 86 39.5% - - - - - - SAMHD1 25939 genome.wustl.edu 37 20 35545190 35545190 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015474.3 -1 reviewed p.R333C 1.000 154 0% 70 52.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF109604 SAMHD1 25939 genome.wustl.edu 37 20 35559211 35559211 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015474.3 -1 reviewed p.E193* 0.027 242 0% 136 33.8% - - - - - HMMSmart_HDc,HMMPfam_HD,superfamily_SSF109604 RBL1 5933 genome.wustl.edu 37 20 35635837 35635837 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002895.2 -1 reviewed p.D950N 0.991 411 0% 209 36.8% - - benign(0.039) tolerated(0.32) neutral(0.026) superfamily_Cyclin-like RPN2 6185 genome.wustl.edu 37 20 35835736 35835736 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002951.3 +1 reviewed p.E251K 1.000 206 0% 147 30.6% - - probably_damaging(0.999) tolerated(0.25) deleterious(0.527) HMMPfam_Ribophorin_II CTNNBL1 56259 genome.wustl.edu 37 20 36431301 36431301 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030877.3 +1 reviewed p.K355T 1.000 271 0% 141 32.6% - - possibly_damaging(0.948) deleterious(0) deleterious(0.836) superfamily_ARM repeat KIAA1755 85449 genome.wustl.edu 37 20 36848064 36848064 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001029864.1 -1 predicted p.R842C 0.953 108 0% 73 17.8% - - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL KIAA1755 85449 genome.wustl.edu 37 20 36869028 36869028 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001029864.1 -1 predicted p.S502Y 0.025 478 0% 286 33.2% - - possibly_damaging(0.923) deleterious(0.04) deleterious(0.722) NULL BPI 671 genome.wustl.edu 37 20 36953197 36953197 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000417318 +1 known p.F148L 0.009 311 0% 157 29.3% - - - - - HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00329,superfamily_Bactericidal permeability-increasing protein BPI LBP 3929 genome.wustl.edu 37 20 36992639 36992639 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004139.2 +1 reviewed p.E221 0.286 203 0% 126 29.4% - - - - - HMMSmart_SM00328,superfamily_Bactericidal permeability-increasing protein BPI RALGAPB 57148 genome.wustl.edu 37 20 37175000 37175000 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020336.2 +1 validated p.H943 1.000 285 0% 155 34.8% - - - - - NULL ARHGAP40 343578 genome.wustl.edu 37 20 37263262 37263262 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000373345 +1 known e5-1 1.000 124 0% 51 33.3% - - - - - - ARHGAP40 343578 genome.wustl.edu 37 20 37267421 37267421 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000373345 +1 known p.E300D 0.998 298 0.3% 164 15.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP ARHGAP40 343578 genome.wustl.edu 37 20 37278479 37278479 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000373346 +1 known p.E151* 1.000 266 0% 158 13.9% - - probably_damaging(0.961) tolerated(0.12) deleterious(0.665) NULL ACTR5 79913 genome.wustl.edu 37 20 37378808 37378808 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024855.3 +1 validated p.K177N 0.129 396 0.3% 197 45.2% - - benign(0.055) tolerated(0.09) neutral(0.300) HMMPfam_Actin,HMMSmart_ACTIN DHX35 60625 genome.wustl.edu 37 20 37601222 37601222 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021931.2 +1 reviewed p.Y65 1.000 490 0% 230 27.8% - - - - - HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases PLCG1 5335 genome.wustl.edu 37 20 39798786 39798786 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002660.2 +1 reviewed p.F895 1.000 138 0% 109 28.4% - - - - - HMMSmart_PH,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SSF50729 PLCG1 5335 genome.wustl.edu 37 20 39802942 39802942 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002660.2 +1 reviewed p.R1275Q 0.992 78 0% 51 39.2% - - benign(0.285) tolerated(0.12) neutral(0.348) NULL ZHX3 23051 genome.wustl.edu 37 20 39830723 39830723 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015035.3 -1 reviewed p.S945L 0.000 96 0% 67 34.3% - - benign(0) tolerated(0.06) neutral(0.323) NULL EMILIN3 90187 genome.wustl.edu 37 20 39990896 39990896 + Missense_Mutation SNP C C G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052846.1 -1 validated p.G438A 0.981 185 0% 83 30.1% - - probably_damaging(0.98) tolerated(0.27) neutral(0.458) NULL EMILIN3 90187 genome.wustl.edu 37 20 39991404 39991404 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052846.1 -1 validated p.L269I 1.000 81 1.2% 98 34.7% - - probably_damaging(0.999) tolerated(0.14) deleterious(0.740) NULL SRSF6 6431 genome.wustl.edu 37 20 42089576 42089576 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006275.5 +1 reviewed p.S303L 0.998 221 0% 115 36.5% - - unknown(0) tolerated(0.15) - NULL MYBL2 4605 genome.wustl.edu 37 20 42340188 42340188 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002466.2 +1 reviewed p.E556K 1.000 215 0% 93 36.6% - - probably_damaging(0.959) deleterious(0.01) deleterious(0.808) HMMPfam_Cmyb_C TOX2 84969 genome.wustl.edu 37 20 42697357 42697357 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000372992 +1 known p.A124 0.162 313 0% 178 35.4% - - - - - NULL TOX2 84969 genome.wustl.edu 37 20 42697448 42697448 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000372992 +1 known p.P155S 0.002 113 0% 88 35.2% - - unknown(0) - - NULL TOX2 84969 genome.wustl.edu 37 20 42697530 42697530 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000372992 +1 known p.R182I 1.000 50 0% 29 41.4% - - unknown(0) - - NULL HNF4A 3172 genome.wustl.edu 37 20 43052754 43052754 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000457.3 +1 reviewed p.S330L 0.999 31 0% 25 28% - - possibly_damaging(0.949) tolerated(0.1) deleterious(0.679) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain SERINC3 10955 genome.wustl.edu 37 20 43132547 43132547 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006811.2 -1 validated p.T322A 0.465 399 0% 180 34.4% - - benign(0.003) tolerated(0.88) - HMMPfam_Serinc SERINC3 10955 genome.wustl.edu 37 20 43142613 43142613 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006811.2 -1 validated p.T36 0.001 312 0% 184 38% - - - - - HMMPfam_Serinc PKIG 11142 genome.wustl.edu 37 20 43243209 43243209 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007066.3 +1 reviewed p.V4 0.932 87 0% 60 33.3% - - - - - HMMPfam_PKI LOC100287145 100287145 genome.wustl.edu 37 20 43805018 43805018 + Missense_Mutation SNP C C T rs149499381 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343707.1 -1 model p.G46S 0.000 17 0.000 4 1.000 - - - - - NULL SEMG1 6406 genome.wustl.edu 37 20 43836054 43836054 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003007.3 +1 reviewed p.F39C 0.000 222 0% 118 39% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Semenogelin SEMG2 6407 genome.wustl.edu 37 20 43851217 43851217 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003008.2 +1 reviewed p.S315Y 0.000 236 0% 120 35.8% - - probably_damaging(0.998) tolerated(0.79) deleterious(0.475) HMMPfam_Semenogelin SLPI 6590 genome.wustl.edu 37 20 43882222 43882222 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003064.2 -1 reviewed p.N80H 0.000 286 0% 161 12.4% - - benign(0.397) tolerated(0.15) neutral(0.368) NULL WFDC3 140686 genome.wustl.edu 37 20 44404062 44404062 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080614.1 -1 reviewed p.E225K 0.000 235 0% 151 37.1% - - benign(0.002) tolerated(0.63) neutral(0.004) NULL ZNF335 63925 genome.wustl.edu 37 20 44581253 44581253 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022095.3 -1 reviewed p.Q933R 1.000 118 0% 107 37.4% - - possibly_damaging(0.95) deleterious(0.02) deleterious(0.776) NULL MMP9 4318 genome.wustl.edu 37 20 44642168 44642168 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004994.2 +1 reviewed p.K535N 1.000 52 0% 33 27.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 SLC12A5 57468 genome.wustl.edu 37 20 44682330 44682330 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001134771.1 +1 reviewed p.E910D 1.000 302 0% 178 33.1% - - benign(0.004) tolerated(0.23) neutral(0.042) NULL CD40 958 genome.wustl.edu 37 20 44757566 44757566 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001250.4 +1 reviewed p.D241N 0.007 161 0% 92 48.9% - - possibly_damaging(0.907) tolerated(0.24) neutral(0.398) NULL SLC35C2 51006 genome.wustl.edu 37 20 44979457 44979457 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015945.10 -1 reviewed p.A304T 1.000 69 0% 46 32.6% - - possibly_damaging(0.555) tolerated(0.05) deleterious(0.535) HMMPfam_TPT,superfamily_Multidrug resistance efflux transporter EmrE ZNF334 55713 genome.wustl.edu 37 20 45131124 45131124 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018102.3 -1 validated p.R285I 0.994 243 0% 116 40.5% - - benign(0.018) deleterious(0) neutral(0.445) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF334 55713 genome.wustl.edu 37 20 45131654 45131654 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018102.3 -1 validated p.L108 0.000 358 0% 203 34.5% - - - - - NULL SLC2A10 81031 genome.wustl.edu 37 20 45354005 45354005 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030777.3 +1 reviewed p.F110 0.108 91 0% 57 12.3% - - - - - HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter ZMYND8 23613 genome.wustl.edu 37 20 45910866 45910866 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000467200 -1 known p.I233V 0.984 206 0% 131 42% - - - - - HMMPfam_PWWP,HMMSmart_SM00293,superfamily_Tudor/PWWP/MBT PREX1 57580 genome.wustl.edu 37 20 47258745 47258745 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020820.3 -1 reviewed p.E1246K 1.000 184 0% 125 32.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LOC100287206 100287206 genome.wustl.edu 37 20 47259195 47259195 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343709.1 +1 model p.S437F 0.973 28 0% 16 43.8% - - - - - NULL ENSG00000245952 0 genome.wustl.edu 37 20 47274582 47274582 + RNA SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000456747 +1 known NULL 0.000 122 0% 68 25% - - - - - - PREX1 57580 genome.wustl.edu 37 20 47361666 47361666 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020820.3 -1 reviewed p.E104K 1.000 161 0% 77 28.6% - - probably_damaging(0.997) tolerated(0.08) deleterious(0.766) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) STAU1 6780 genome.wustl.edu 37 20 47734404 47734404 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017453.2 -1 reviewed p.K473N 1.000 254 0% 173 30.6% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL LOC100131544 100131544 genome.wustl.edu 37 20 47858409 47858409 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001716051.1 -1 model p.K43Q 0.000 181 0% 71 33.8% - - unknown(0) - - NULL ZNFX1 57169 genome.wustl.edu 37 20 47886956 47886956 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021035.2 -1 validated p.L465I 1.000 150 0% 86 41.9% - - possibly_damaging(0.94) tolerated(0.22) neutral(0.427) NULL KCNB1 3745 genome.wustl.edu 37 20 47991306 47991306 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004975.2 -1 reviewed p.A264V 1.000 177 0% 120 10.8% - - benign(0) tolerated(1) - HMMPfam_Ion_trans,superfamily_SSF81324 KCNB1 3745 genome.wustl.edu 37 20 48098684 48098684 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004975.2 -1 reviewed p.A112T 1.000 108 0% 85 35.3% - - probably_damaging(0.973) deleterious(0.01) deleterious(0.821) HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold SLC9A8 23315 genome.wustl.edu 37 20 48491338 48491338 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015266.1 +1 validated p.R352H 1.000 496 0% 251 36.7% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Na_H_Exchanger SPATA2 9825 genome.wustl.edu 37 20 48522218 48522218 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135773.1 -1 validated p.F501V 1.000 621 0.2% 326 33.1% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TMEM189 387521 genome.wustl.edu 37 20 48744613 48744613 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199129.2 -1 reviewed p.R197H 0.078 285 0% 248 27% - - benign(0) tolerated(0.53) neutral(0.007) HMMPfam_Kua-UEV1_localn DPM1 8813 genome.wustl.edu 37 20 49552688 49552688 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000371584 -1 known p.R260* 0.760 230 0% 93 34.4% - - - - - superfamily_Nucleotide-diphospho-sugar transferases LOC100128598 100128598 genome.wustl.edu 37 20 49626168 49626168 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001716142.1 +1 model p.E352K 0.973 32 0% 33 33.3% - - - - - NULL KCNG1 3755 genome.wustl.edu 37 20 49626686 49626686 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002237.3 -1 reviewed p.R64W 0.592 41 0% 42 31% - - benign(0.242) deleterious(0.03) neutral(0.389) HMMSmart_SM00225,superfamily_POZ domain ATP9A 10079 genome.wustl.edu 37 20 50230252 50230252 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006045.1 -1 validated p.F845 0.998 85 0% 77 13% - - - - - NULL SALL4 57167 genome.wustl.edu 37 20 50407042 50407042 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020436.3 -1 reviewed p.E660D 0.940 99 0% 81 45.7% - - possibly_damaging(0.661) tolerated(0.25) neutral(0.271) NULL SALL4 57167 genome.wustl.edu 37 20 50407730 50407730 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020436.3 -1 reviewed p.R431Q 1.000 119 0% 58 31% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 SALL4 57167 genome.wustl.edu 37 20 50408000 50408000 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020436.3 -1 reviewed p.S341L 0.979 106 0.9% 57 38.6% - - probably_damaging(0.991) tolerated(0.07) deleterious(0.763) NULL ZFP64 55734 genome.wustl.edu 37 20 50701129 50701129 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199427.2 -1 validated p.L635 0.721 35 0% 32 18.8% - - - - - NULL ZNF217 7764 genome.wustl.edu 37 20 52193251 52193251 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006526.2 -1 validated p.E684 0.296 172 0% 135 38.5% - - - - - NULL BCAS1 8537 genome.wustl.edu 37 20 52570152 52570152 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000422805 -1 known p.R163* 0.217 688 0.1% 426 35.4% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL BCAS1 8537 genome.wustl.edu 37 20 52612457 52612457 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003657.2 -1 reviewed p.S286A 0.026 220 0% 134 36.6% - - benign(0.164) deleterious(0) neutral(0.460) NULL CYP24A1 1591 genome.wustl.edu 37 20 52788167 52788167 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000782.4 -1 reviewed p.K164N 1.000 445 0% 273 35.2% - - benign(0.017) deleterious(0.01) neutral(0.406) HMMPfam_p450,superfamily_Cytochrome_P450 CBLN4 140689 genome.wustl.edu 37 20 54573756 54573756 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080617.4 -1 reviewed p.D155Y 1.000 185 0% 103 31.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like CASS4 57091 genome.wustl.edu 37 20 55027303 55027303 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020356.3 +1 validated p.S357 0.000 115 0% 71 29.6% - - - - - NULL C20orf43 51507 genome.wustl.edu 37 20 55093154 55093154 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016407.3 +1 validated p.S252G 0.000 43 0% 33 30.3% - - benign(0) tolerated(0.42) neutral(0.014) HMMPfam_DUF602 SPO11 23626 genome.wustl.edu 37 20 55913406 55913406 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012444.2 +1 reviewed p.F273L 1.000 335 0% 169 36.1% - - benign(0.002) tolerated(1) - superfamily_DNA topoisomerase IV alpha subunit RAE1 8480 genome.wustl.edu 37 20 55941950 55941950 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001015885.1 +1 reviewed e5+1 1.000 543 0% 344 38.7% - - - - - - CTCFL 140690 genome.wustl.edu 37 20 56073645 56073645 + Silent SNP G G A rs111292204 byCluster;by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080618.2 -1 reviewed p.G651 0.002 196 0% 138 31.9% - - - - - NULL C20orf85 128602 genome.wustl.edu 37 20 56730522 56730522 + Splice_Site SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178456.2 +1 validated e3-2 0.871 256 0% 129 37.2% - - - - - - GNAS 2778 genome.wustl.edu 37 20 57428374 57428374 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080425.2 +1 reviewed p.I18 0.998 29 0% 16 31.2% - - - - - NULL TH1L 51497 genome.wustl.edu 37 20 57564045 57564045 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198976.1 +1 reviewed p.P167Q 1.000 206 0% 115 11.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TH1 TH1L 51497 genome.wustl.edu 37 20 57566977 57566977 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198976.1 +1 reviewed p.T386 0.007 264 0% 152 32.9% - - - - - HMMPfam_TH1 TUBB1 81027 genome.wustl.edu 37 20 57598975 57598975 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030773.2 +1 validated p.N165H 1.000 174 0% 133 36.8% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Tubulin,superfamily_Tubulin_FtsZ ATP5E 514 genome.wustl.edu 37 20 57605476 57605476 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001977.1 -1 reviewed p.R14Q 0.994 275 0% 167 34.7% - - possibly_damaging(0.867) deleterious(0) deleterious(0.781) HMMPfam_ATP-synt_Eps,superfamily_ATP_synth_E PHACTR3 116154 genome.wustl.edu 37 20 58381108 58381108 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080672.3 +1 reviewed p.R396Q 1.000 184 0% 58 22.4% - - probably_damaging(1) tolerated(0.17) deleterious(0.559) NULL PHACTR3 116154 genome.wustl.edu 37 20 58416496 58416496 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080672.3 +1 reviewed p.L498R 1.000 227 0% 95 38.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00707 SYCP2 10388 genome.wustl.edu 37 20 58452571 58452571 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014258.2 -1 reviewed p.I1007V 0.001 314 0% 107 40.2% - - benign(0) tolerated(1) - NULL SYCP2 10388 genome.wustl.edu 37 20 58455428 58455428 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014258.2 -1 reviewed p.P957 0.212 686 0% 297 34.7% - - - - - NULL SYCP2 10388 genome.wustl.edu 37 20 58455433 58455433 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014258.2 -1 reviewed p.E956* 0.995 674 0% 293 37.9% - - - - - NULL SYCP2 10388 genome.wustl.edu 37 20 58482446 58482446 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014258.2 -1 reviewed p.E336* 1.000 281 0% 125 15.2% - - - - - NULL CDH26 60437 genome.wustl.edu 37 20 58559775 58559775 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_177980.2 +1 reviewed p.S208Y 1.000 437 0% 207 39.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin HRH3 11255 genome.wustl.edu 37 20 60791110 60791110 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007232.2 -1 validated p.Q430H 0.982 159 0% 91 38.5% - - possibly_damaging(0.7) tolerated(0.06) deleterious(0.574) superfamily_Family A G protein-coupled receptor-like LAMA5 3911 genome.wustl.edu 37 20 60887690 60887690 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005560.3 -1 reviewed p.P3075 0.000 37 0% 22 31.8% - - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 LAMA5 3911 genome.wustl.edu 37 20 60927097 60927097 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005560.3 -1 reviewed p.M242I 1.000 50 0% 28 32.1% - - benign(0.045) tolerated(0.37) neutral(0.021) HMMPfam_Laminin_N,HMMSmart_SM00136 MIR133A2 406923 genome.wustl.edu 37 20 61162152 61162152 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000347538 +1 known NULL 1.000 135 0% 51 29.4% - - - - - - SLCO4A1 28231 genome.wustl.edu 37 20 61296286 61296286 + Silent SNP C C G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016354.3 +1 validated p.L374 1.000 133 0% 90 35.6% - - - - - HMMPfam_OATP,superfamily_MFS general substrate transporter NTSR1 4923 genome.wustl.edu 37 20 61340982 61340982 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002531.2 +1 reviewed p.C141 1.000 45 0% 45 13.3% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OGFR 11054 genome.wustl.edu 37 20 61442874 61442874 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000370469 +1 known p.W31* 1.000 53 0% 27 29.6% - - - - - NULL OGFR 11054 genome.wustl.edu 37 20 61443643 61443643 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007346.2 +1 reviewed p.E226K 0.995 42 0% 38 26.3% - - possibly_damaging(0.907) tolerated(0.08) deleterious(0.660) HMMPfam_OGFr_N OGFR 11054 genome.wustl.edu 37 20 61444461 61444461 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007346.2 +1 reviewed p.N498K 0.000 69 0% 54 31.5% - - probably_damaging(0.959) tolerated(0.37) neutral(0.422) NULL DIDO1 11083 genome.wustl.edu 37 20 61511908 61511908 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033081.1 -1 reviewed p.F1800 0.223 79 0% 55 38.2% - - - - - NULL DIDO1 11083 genome.wustl.edu 37 20 61528315 61528315 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033081.1 -1 reviewed p.A541V 0.000 38 0% 23 39.1% - - benign(0.072) tolerated(0.63) neutral(0.009) NULL YTHDF1 54915 genome.wustl.edu 37 20 61845257 61845257 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017798.3 -1 validated p.D31Y 1.000 302 0% 97 24.7% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL COL20A1 57642 genome.wustl.edu 37 20 61936857 61936857 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020882.2 +1 validated p.Q94H 1.000 84 0% 46 37% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III KCNQ2 3785 genome.wustl.edu 37 20 62039859 62039859 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172107.2 -1 reviewed p.A598 0.000 28 0% 26 42.3% - - - - - HMMPfam_KCNQ_channel KCNQ2 3785 genome.wustl.edu 37 20 62059789 62059789 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172107.2 -1 reviewed e10-1 1.000 80 0% 44 38.6% - - - - - - SRMS 6725 genome.wustl.edu 37 20 62173895 62173895 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080823.2 -1 provisional p.E229K 0.997 102 0% 58 36.2% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_Kinase_like,superfamily_SSF55550 STMN3 50861 genome.wustl.edu 37 20 62275244 62275244 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015894.2 -1 reviewed p.Q52H 1.000 83 0% 38 47.4% - - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_Stathmin,superfamily_Stathmin RTEL1 51750 genome.wustl.edu 37 20 62293771 62293771 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000356810 +1 known p.V140I 0.000 43 0% 45 26.7% - - possibly_damaging(0.737) tolerated(0.68) neutral(0.272) HMMSmart_SM00488,HMMPfam_DEAD_2,superfamily_P-loop containing nucleoside triphosphate hydrolases ZBTB46 140685 genome.wustl.edu 37 20 62421760 62421760 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025224.2 -1 provisional p.I117 0.887 19 0% 24 29.2% - - - - - HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB TCEA2 6919 genome.wustl.edu 37 20 62701639 62701639 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003195.4 +1 reviewed p.D182Y 1.000 144 0% 70 25.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,HMMSmart_SM00510 MYT1 4661 genome.wustl.edu 37 20 62848445 62848445 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004535.2 +1 reviewed p.E553K 1.000 75 0% 42 40.5% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PCMTD2 55251 genome.wustl.edu 37 20 62904753 62904753 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018257.2 +1 validated p.E296* 1.000 214 0% 83 32.5% - - - - - NULL PCMTD2 55251 genome.wustl.edu 37 20 62904873 62904873 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018257.2 +1 validated p.N336H 1.000 256 0% 93 32.3% - - probably_damaging(0.962) deleterious(0) deleterious(0.850) NULL TPTE 7179 genome.wustl.edu 37 21 10942994 10942994 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_199261.2 -1 validated p.R198Q 1.000 658 0% 247 10.9% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_Voltage-gated potassium channels SAMSN1 64092 genome.wustl.edu 37 21 15873047 15873047 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022136.3 -1 validated p.I191F 1.000 451 0% 281 33.1% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 SAMSN1 64092 genome.wustl.edu 37 21 15893508 15893508 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022136.3 -1 validated p.R31Q 1.000 121 0% 53 26.4% - - probably_damaging(0.997) tolerated(0.21) deleterious(0.510) NULL NRIP1 8204 genome.wustl.edu 37 21 16339307 16339307 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003489.3 -1 reviewed p.S403R 0.997 470 0% 254 32.3% - - probably_damaging(0.996) tolerated(0.31) deleterious(0.489) NULL USP25 29761 genome.wustl.edu 37 21 17203948 17203948 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013396.3 +1 validated p.E665* 1.000 233 0% 117 31.6% - - - - - NULL USP25 29761 genome.wustl.edu 37 21 17246810 17246810 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013396.3 +1 validated p.E922K 1.000 436 0% 234 30.3% - - benign(0.016) tolerated(0.62) neutral(0.005) NULL C21orf91 54149 genome.wustl.edu 37 21 19169402 19169402 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001100420.1 -1 validated p.S54* 1.000 120 0% 32 40.6% - - - - - HMMPfam_EURL CHODL 140578 genome.wustl.edu 37 21 19628911 19628911 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024944.2 +1 reviewed p.Q55 1.000 142 0% 67 44.8% - - - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like TMPRSS15 5651 genome.wustl.edu 37 21 19737495 19737495 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002772.2 -1 reviewed p.K245 0.000 321 0% 146 28.8% - - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain TMPRSS15 5651 genome.wustl.edu 37 21 19756016 19756016 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002772.2 -1 reviewed p.Q142K 1.000 516 0% 238 37% - - benign(0.054) tolerated(0.56) neutral(0.010) HMMPfam_SEA,HMMSmart_SM00200,superfamily_SEA domain TMPRSS15 5651 genome.wustl.edu 37 21 19770219 19770219 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002772.2 -1 reviewed p.K107N 0.190 76 0% 38 26.3% - - possibly_damaging(0.803) tolerated(0.13) deleterious(0.555) HMMPfam_SEA,HMMSmart_SM00200,superfamily_SEA domain NCAM2 4685 genome.wustl.edu 37 21 22658606 22658606 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004540.2 +1 reviewed p.E119* 1.000 309 0% 156 28.8% - - - - - superfamily_SSF48726 NCAM2 4685 genome.wustl.edu 37 21 22804553 22804553 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004540.2 +1 reviewed p.E536* 1.000 214 0% 106 31.1% - - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like JAM2 58494 genome.wustl.edu 37 21 27081748 27081748 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021219.2 +1 reviewed p.E270* 0.995 283 0% 151 36.4% - - - - - NULL LOC100288213 100288213 genome.wustl.edu 37 21 27254002 27254002 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343739.1 +1 model p.E27* 1.000 189 0% 167 35.9% - - possibly_damaging(0.806) deleterious(0) deleterious(0.748) NULL APP 351 genome.wustl.edu 37 21 27328066 27328066 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000484.3 -1 reviewed p.R488C 0.998 512 0.2% 310 32.3% - - benign(0.384) deleterious(0.01) deleterious(0.528) superfamily_CAPPD an extracellular domain of amyloid beta A4 protein APP 351 genome.wustl.edu 37 21 27425587 27425587 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000484.3 -1 reviewed p.E145K 1.000 250 0% 130 33.8% - - benign(0.151) tolerated(0.11) neutral(0.285) HMMPfam_A4_EXTRA,HMMSmart_SM00006,superfamily_Amyloid beta a4 protein copper binding domain (domain 2) ADAMTS1 9510 genome.wustl.edu 37 21 28213375 28213375 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006988.3 -1 reviewed p.S440R 0.795 207 0% 127 35.4% - - benign(0.163) tolerated(0.18) neutral(0.071) HMMPfam_Reprolysin,superfamily_SSF55486 ADAMTS5 11096 genome.wustl.edu 37 21 28296459 28296459 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007038.3 -1 reviewed p.C902 1.000 166 0% 91 41.8% - - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTS5 11096 genome.wustl.edu 37 21 28327064 28327064 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007038.3 -1 reviewed p.E411K 1.000 135 0% 83 37.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Reprolysin,PatternScan_ZINC_PROTEASE,superfamily_Metalloproteases (""zincins"") catalytic domain" LTN1 26046 genome.wustl.edu 37 21 30303603 30303603 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015565.2 -1 validated p.N1704 0.998 321 0.3% 189 34.4% - - - - - NULL LTN1 26046 genome.wustl.edu 37 21 30357196 30357196 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015565.2 -1 validated p.K131N 1.000 371 0% 163 42.3% - - possibly_damaging(0.736) tolerated(0.06) deleterious(0.592) superfamily_ARM repeat USP16 10600 genome.wustl.edu 37 21 30419197 30419197 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001032410.1 +1 reviewed p.I522 0.000 182 0% 61 31.1% - - - - - HMMPfam_UCH,superfamily_Cysteine proteinases USP16 10600 genome.wustl.edu 37 21 30421166 30421166 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001032410.1 +1 reviewed p.R699I 1.000 340 0% 204 37.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases C21orf7 56911 genome.wustl.edu 37 21 30547097 30547097 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020152.2 +1 provisional p.R205W 0.998 296 0% 145 31.7% - - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL GRIK1 2897 genome.wustl.edu 37 21 30927384 30927384 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000830.3 -1 reviewed p.D866Y 1.000 208 0% 94 29.8% - - benign(0.045) tolerated(0.12) neutral(0.263) NULL KRTAP13-4 284827 genome.wustl.edu 37 21 31802662 31802662 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181600.1 +1 provisional p.G23 0.000 204 0% 110 24.5% - - - - - HMMPfam_PMG KRTAP19-3 337970 genome.wustl.edu 37 21 31864175 31864175 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181609.3 -1 validated p.R34I 0.005 476 0% 313 31.3% - - unknown(0) - - NULL TIAM1 7074 genome.wustl.edu 37 21 32624386 32624386 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003253.2 -1 validated p.T361 0.266 92 0% 83 36.1% - - - - - NULL SCAF4 57466 genome.wustl.edu 37 21 33074606 33074606 + Silent SNP C C T rs140603862 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020706.2 -1 reviewed p.A136 0.993 352 0% 187 38.5% - - - - - HMMSmart_SM00582,superfamily_ENTH/VHS domain MRAP 56246 genome.wustl.edu 37 21 33686879 33686879 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_206898.1 +1 reviewed p.S75Y 0.000 155 0% 85 37.6% - - unknown(0) deleterious(0) - NULL URB1 9875 genome.wustl.edu 37 21 33696875 33696875 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014825.2 -1 validated p.R1720Q 0.980 206 0% 71 21.1% - - benign(0.417) tolerated(0.49) neutral(0.146) superfamily_ARM repeat SYNJ1 8867 genome.wustl.edu 37 21 34011986 34011986 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000418301 -1 known p.R52* 0.000 328 0% 168 38.7% - - benign(0) tolerated(0.35) neutral(0.021) NULL SYNJ1 8867 genome.wustl.edu 37 21 34018096 34018096 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003895.3 -1 validated p.S1084Y 1.000 16 0% 26 23.1% - - benign(0.313) deleterious(0.02) deleterious(0.481) NULL SYNJ1 8867 genome.wustl.edu 37 21 34045731 34045731 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003895.3 -1 validated p.R549C 1.000 414 0% 226 13.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like SYNJ1 8867 genome.wustl.edu 37 21 34072370 34072370 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003895.3 -1 validated p.S86Y 1.000 143 0% 65 24.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Syja_N GCFC1 94104 genome.wustl.edu 37 21 34131546 34131546 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016631.3 -1 reviewed p.R410 0.996 463 0% 225 29.8% - - - - - HMMPfam_GCFC GCFC1 94104 genome.wustl.edu 37 21 34134560 34134560 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016631.3 -1 reviewed p.D240N 1.000 314 0% 191 40.3% - - probably_damaging(0.975) deleterious(0.03) deleterious(0.781) NULL IFNGR2 3460 genome.wustl.edu 37 21 34805173 34805173 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005534.3 +1 reviewed p.E292K 0.961 249 0% 150 35.3% - - benign(0.1) tolerated(0.34) neutral(0.030) NULL DNAJC28 54943 genome.wustl.edu 37 21 34861073 34861073 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001040192.1 -1 validated p.E210* 1.000 416 0% 246 44.7% - - - - - HMMPfam_DUF1992 SON 6651 genome.wustl.edu 37 21 34922186 34922186 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138927.1 +1 reviewed p.V217I 0.148 98 0% 58 27.6% - - benign(0.07) deleterious(0.05) neutral(0.350) NULL SON 6651 genome.wustl.edu 37 21 34923523 34923523 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138927.1 +1 reviewed p.S662 1.000 128 0% 84 13.1% - - - - - NULL SON 6651 genome.wustl.edu 37 21 34929588 34929588 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138927.1 +1 reviewed p.K2096T 1.000 210 0% 99 22.2% - - probably_damaging(0.958) deleterious(0.01) deleterious(0.807) NULL CRYZL1 9946 genome.wustl.edu 37 21 34988840 34988840 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000413017 -1 known p.R111Q 0.000 48 0% 31 35.5% - - unknown(0) - - NULL KCNE2 9992 genome.wustl.edu 37 21 35743082 35743082 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_172201.1 +1 reviewed p.N102I 0.019 118 0% 82 41.5% - - benign(0.039) deleterious(0.02) neutral(0.385) NULL CLIC6 54102 genome.wustl.edu 37 21 36079618 36079618 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_053277.1 +1 reviewed p.S472Y 1.000 482 0% 294 29.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Thioredoxin-like CLIC6 54102 genome.wustl.edu 37 21 36081026 36081026 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_053277.1 +1 reviewed p.E547K 1.000 116 0% 55 47.3% - - benign(0.262) deleterious(0.01) neutral(0.433) superfamily_Glutathione S-transferase (GST) C-terminal domain SETD4 54093 genome.wustl.edu 37 21 37420633 37420633 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017438.3 -1 validated p.R90Q 0.004 230 0% 150 30% - - benign(0.019) tolerated(0.65) neutral(0.004) HMMPfam_SET,superfamily_SET domain CBR3 874 genome.wustl.edu 37 21 37510203 37510203 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001236.3 +1 reviewed p.E124K 0.746 369 0.8% 212 31.6% - - benign(0) tolerated(0.72) neutral(0.002) HMMPfam_adh_short,superfamily_NAD(P)-bd CLDN14 23562 genome.wustl.edu 37 21 37833709 37833709 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012130.2 -1 reviewed p.C95 0.072 33 0% 31 32.3% - - - - - HMMPfam_PMP22_Claudin HLCS 3141 genome.wustl.edu 37 21 38302735 38302735 + Splice_Site SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000411.5 -1 reviewed e3-2 0.996 328 0% 168 32.1% - - - - - - TTC3 7267 genome.wustl.edu 37 21 38467695 38467695 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001894.1 +1 validated p.E245* 0.995 260 0% 108 29.6% - - - - - HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 TTC3 7267 genome.wustl.edu 37 21 38534366 38534366 + Splice_Site SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001894.1 +1 validated e30+1 0.963 143 0% 47 38.3% - - - - - - TTC3 7267 genome.wustl.edu 37 21 38536423 38536423 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001894.1 +1 validated p.E1081K 1.000 248 0% 121 38.8% - - possibly_damaging(0.882) deleterious(0) deleterious(0.789) superfamily_Spectrin,superfamily_SSF48452 TTC3 7267 genome.wustl.edu 37 21 38538153 38538153 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001894.1 +1 validated p.E1213K 0.998 222 0% 85 34.1% - - possibly_damaging(0.882) deleterious(0) deleterious(0.789) superfamily_Spectrin,superfamily_SSF48452 TTC3 7267 genome.wustl.edu 37 21 38544951 38544951 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001894.1 +1 validated p.E1508K 0.971 278 0% 115 33% - - benign(0.071) deleterious(0.04) neutral(0.354) superfamily_Spectrin,superfamily_SSF48452 TTC3 7267 genome.wustl.edu 37 21 38572566 38572566 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001894.1 +1 validated p.E1962K 0.031 223 0% 109 11% - - benign(0) tolerated(0.1) neutral(0.286) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 DYRK1A 1859 genome.wustl.edu 37 21 38852962 38852962 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001396.3 +1 reviewed p.R117Q 1.000 295 0% 135 40.7% - - possibly_damaging(0.919) tolerated(0.05) deleterious(0.715) NULL KCNJ6 3763 genome.wustl.edu 37 21 38997521 38997521 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002240.2 -1 reviewed p.L404 0.000 642 0% 327 31.8% - - - - - NULL KCNJ6 3763 genome.wustl.edu 37 21 38997691 38997691 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002240.2 -1 reviewed p.E348K 1.000 313 0% 209 37.3% - - probably_damaging(0.973) tolerated(0.49) neutral(0.425) HMMPfam_IRK,superfamily_Ig_E-set ETS2 2114 genome.wustl.edu 37 21 40185005 40185005 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005239.4 +1 validated p.E51* 1.000 430 0% 240 32.9% - - - - - NULL ETS2 2114 genome.wustl.edu 37 21 40194729 40194729 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005239.4 +1 validated p.F442 0.989 205 0% 129 34.1% - - - - - HMMPfam_Ets,HMMSmart_ETS,superfamily_SSF46785 PSMG1 8624 genome.wustl.edu 37 21 40550511 40550511 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003720.2 -1 validated p.T173 0.469 350 0% 184 34.8% - - - - - NULL BRWD1 54014 genome.wustl.edu 37 21 40568602 40568602 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018963.3 -1 reviewed p.S2131 0.040 528 0% 314 32.2% - - - - - superfamily_WD40 repeat-like BRWD1 54014 genome.wustl.edu 37 21 40604198 40604198 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018963.3 -1 reviewed p.R969* 1.000 291 0% 124 36.3% - - - - - superfamily_WD40 repeat-like BRWD1 54014 genome.wustl.edu 37 21 40608627 40608627 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018963.3 -1 reviewed p.R887Q 0.009 407 0% 235 21.7% - - probably_damaging(0.97) tolerated(0.06) deleterious(0.735) superfamily_WD40 repeat-like LCA5L 150082 genome.wustl.edu 37 21 40794942 40794942 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152505.3 -1 validated p.I266S 0.000 504 0% 280 10.4% - - benign(0.006) tolerated(0.57) neutral(0.006) NULL LCA5L 150082 genome.wustl.edu 37 21 40795315 40795315 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152505.3 -1 validated p.R142* 0.145 101 0% 70 12.9% - - - - - NULL IGSF5 150084 genome.wustl.edu 37 21 41118179 41118179 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001080444.1 +1 provisional p.W18C 0.337 55 0% 40 35% - - benign(0.049) - - NULL DSCAM 1826 genome.wustl.edu 37 21 41452085 41452085 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001389.3 -1 validated p.G1472* 0.998 273 0% 123 31.7% - - - - - superfamily_Fibronectin type III DSCAM 1826 genome.wustl.edu 37 21 41711296 41711296 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001389.3 -1 validated p.S419R 0.999 117 0% 80 42.5% - - benign(0.093) tolerated(0.56) neutral(0.013) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin BACE2 25825 genome.wustl.edu 37 21 42613768 42613768 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012105.3 +1 reviewed p.F214S 1.000 241 0% 156 35.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Asp,superfamily_Acid proteases BACE2 25825 genome.wustl.edu 37 21 42629207 42629207 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012105.3 +1 reviewed p.F419 0.987 157 0% 100 17% - - - - - HMMPfam_Asp,superfamily_Acid proteases MX2 4600 genome.wustl.edu 37 21 42767678 42767678 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002463.1 +1 reviewed p.E346* 0.939 209 0% 109 38.5% - - - - - HMMPfam_Dynamin_M,superfamily_SSF52540 MX2 4600 genome.wustl.edu 37 21 42780136 42780136 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002463.1 +1 reviewed p.Q708 0.117 121 0% 83 27.7% - - - - - HMMPfam_GED,HMMSmart_GED MX1 4599 genome.wustl.edu 37 21 42823124 42823124 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144925.1 +1 reviewed p.S488L 0.080 370 0.5% 204 30.9% - - benign(0.002) tolerated(0.08) neutral(0.300) HMMPfam_Dynamin_M TMPRSS2 7113 genome.wustl.edu 37 21 42870117 42870117 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005656.3 -1 reviewed e1-1 0.998 247 0% 121 42.1% - - - - - - PRDM15 63977 genome.wustl.edu 37 21 43230570 43230570 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022115.3 -1 validated p.C1230 0.999 29 0% 42 21.4% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 PRDM15 63977 genome.wustl.edu 37 21 43259754 43259754 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022115.3 -1 validated p.I649 0.000 332 0% 172 44.2% - - - - - NULL ZNF295 49854 genome.wustl.edu 37 21 43412353 43412353 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098402.1 -1 validated p.F618V 1.000 198 0% 125 40% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL ZNF295-AS1 150142 genome.wustl.edu 37 21 43444960 43444960 + RNA SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_027273.1 +1 validated NULL 0.000 35 0% 30 40% - - - - - - UBASH3A 53347 genome.wustl.edu 37 21 43857674 43857675 + Frame_Shift_Ins INS - - A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018961.2 +1 validated p.L491fs 0.994:0.993 - - - - - - - - - HMMPfam_PGAM,superfamily_Phosphoglycerate mutase-like LINC00313 114038 genome.wustl.edu 37 21 44891483 44891483 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_026863.1 -1 predicted NULL 0.000 69 0% 50 40% - - - - - - HSF2BP 11077 genome.wustl.edu 37 21 45077960 45077960 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007031.1 -1 reviewed p.A6 0.000 8 0.000 18 0.222 - - - - - NULL RRP1B 23076 genome.wustl.edu 37 21 45094523 45094523 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015056.2 +1 validated p.R122C 0.977 269 0% 115 33% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Nop52 TRAPPC10 7109 genome.wustl.edu 37 21 45479370 45479370 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000380221 +1 known p.S272* 0.000 234 0% 135 43.7% - - - - - NULL TRAPPC10 7109 genome.wustl.edu 37 21 45483619 45483619 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003274.4 +1 reviewed p.A331T 1.000 152 0% 87 36.8% - - benign(0.372) tolerated(0.49) neutral(0.129) NULL TRAPPC10 7109 genome.wustl.edu 37 21 45507669 45507669 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003274.4 +1 reviewed p.E877K 1.000 177 0% 111 38.7% - - benign(0.15) tolerated(0.65) neutral(0.016) NULL PWP2 5822 genome.wustl.edu 37 21 45548501 45548501 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005049.2 +1 validated p.S860L 1.000 60 0% 35 31.4% - - probably_damaging(0.996) tolerated(0.22) deleterious(0.504) HMMPfam_PWP2 DNMT3L 29947 genome.wustl.edu 37 21 45666336 45666336 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013369.2 -1 reviewed p.L370I 0.993 108 0% 59 50.8% - - probably_damaging(0.988) tolerated(0.07) deleterious(0.756) NULL DNMT3L 29947 genome.wustl.edu 37 21 45679527 45679527 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013369.2 -1 reviewed p.C73 0.011 214 0.5% 186 38.7% - - - - - NULL AIRE 326 genome.wustl.edu 37 21 45709596 45709596 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000383.2 +1 reviewed p.E237K 0.448 37 0% 15 46.7% - - probably_damaging(0.998) tolerated(0.06) deleterious(0.797) HMMPfam_SAND,HMMSmart_SM00258,superfamily_SAND domain-like TRPM2 7226 genome.wustl.edu 37 21 45826645 45826645 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003307.3 +1 reviewed p.D987N 0.997 99 0% 68 30.9% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) PatternScan_CHITINASE_18,HMMPfam_Ion_trans TRPM2 7226 genome.wustl.edu 37 21 45833853 45833853 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003307.3 +1 reviewed p.T1014 0.000 227 0% 128 42.2% - - - - - HMMPfam_Ion_trans TRPM2 7226 genome.wustl.edu 37 21 45837984 45837984 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003307.3 +1 reviewed p.K1107 1.000 50 0% 35 34.3% - - - - - NULL TSPEAR 54084 genome.wustl.edu 37 21 45987716 45987716 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144991.2 -1 provisional p.E86* 1.000 80 0% 51 43.1% - - - - - HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases KRTAP10-7 386675 genome.wustl.edu 37 21 46021506 46021506 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000380102 +1 known p.P329S 0.971 224 0% 191 33% - - unknown(0) tolerated(0.63) - HMMPfam_Keratin_B2 ITGB2 3689 genome.wustl.edu 37 21 46321626 46321626 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000211.3 -1 reviewed p.K174N 1.000 132 0% 76 32.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_VWA,HMMPfam_Integrin_beta,HMMSmart_INB,superfamily_SSF53300 C21orf67 84536 genome.wustl.edu 37 21 46355544 46355544 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000397841 -1 known p.L113 0.012 93 0% 64 32.8% - - - - - NULL COL18A1 80781 genome.wustl.edu 37 21 46916434 46916434 + Silent SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_130444.2 +1 reviewed p.G1258 0.207 28 0% 19 26.3% - - - - - superfamily_C-type lectin-like COL18A1 80781 genome.wustl.edu 37 21 46925297 46925298 + In_Frame_Ins INS - - CCCCCTGGG novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_130444.2 +1 reviewed p.1429in_frame_insPGP 0.947:0.997 - - - - - - - - - NULL SLC19A1 6573 genome.wustl.edu 37 21 46951450 46951450 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194255.1 -1 validated p.R268C 0.999 13 0% 17 41.2% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Folate_carrier,superfamily_MFS general substrate transporter PCBP3 54039 genome.wustl.edu 37 21 47329274 47329274 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020528.2 +1 reviewed p.I115 1.000 83 0% 46 26.1% - - - - - NULL PCBP3 54039 genome.wustl.edu 37 21 47355184 47355184 + Missense_Mutation SNP C C G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020528.2 +1 reviewed p.P292A 1.000 118 0% 89 10.1% - - benign(0.013) tolerated(0.8) neutral(0.001) HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I) LOC100288508 100288508 genome.wustl.edu 37 21 47538677 47538677 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343757.1 -1 model p.E396* 0.000 25 0% 25 40% - - - - - NULL LOC100288508 100288508 genome.wustl.edu 37 21 47546000 47546000 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343757.1 -1 model p.D257N 0.998 37 0% 25 44% - - - - - NULL YBEY 54059 genome.wustl.edu 37 21 47706982 47706982 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_058181.1 +1 validated p.R52I 0.000 192 0% 80 31.2% - - benign(0.142) deleterious(0.04) neutral(0.361) "HMMPfam_UPF0054,superfamily_Metalloproteases (""zincins"") catalytic domain" PCNT 5116 genome.wustl.edu 37 21 47836109 47836109 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006031.5 +1 reviewed p.D2093N 0.000 145 0% 139 33.1% - - possibly_damaging(0.664) tolerated(1) neutral(0.235) NULL DIP2A 23181 genome.wustl.edu 37 21 47981665 47981665 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015151.3 +1 reviewed p.R1346C 0.996 309 0% 189 41.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like PRMT2 3275 genome.wustl.edu 37 21 48083316 48083316 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000458387 +1 known p.A226T 0.580 157 0% 129 39.5% - - benign(0.002) deleterious(0.01) neutral(0.406) NULL POTEH 23784 genome.wustl.edu 37 22 16267084 16267084 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136213.1 -1 provisional p.E455D 0.035 2400 0% 1389 12% - - benign(0.019) deleterious(0) neutral(0.446) NULL POTEH 23784 genome.wustl.edu 37 22 16287790 16287790 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136213.1 -1 provisional p.F32 0.002 502 0% 313 23% - - - - - NULL OR11H1 81061 genome.wustl.edu 37 22 16449179 16449179 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005239.1 -1 provisional p.R209I 0.000 850 0.1% 432 28.7% - - benign(0) tolerated(0.79) neutral(0.001) HMMPfam_7tm_1,superfamily_SSF81321 CCT8L2 150160 genome.wustl.edu 37 22 17072079 17072079 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014406.4 -1 validated p.E454D 0.995 293 0% 158 35.4% - - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like XKR3 150165 genome.wustl.edu 37 22 17280679 17280679 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_175878.3 -1 validated p.E191* 0.043 220 0% 143 35.7% - - - - - HMMPfam_XK-related CECR2 27443 genome.wustl.edu 37 22 18028495 18028495 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000400573 +1 known p.F1151C 1.000 259 0% 157 34.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ATP6V1E1 529 genome.wustl.edu 37 22 18080958 18080958 + Splice_Site SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001696.3 -1 reviewed e7+2 1.000 287 0% 169 34.9% - - - - - - MICAL3 57553 genome.wustl.edu 37 22 18379532 18379532 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015241.2 -1 provisional p.G388 0.998 104 0% 75 36% - - - - - superfamily_Calponin-homology domain CH-domain,superfamily_FAD/NAD(P)-binding domain MICAL3 57553 genome.wustl.edu 37 22 18379732 18379732 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015241.2 -1 provisional p.E322K 1.000 57 0% 42 35.7% - - probably_damaging(0.994) tolerated(0.26) deleterious(0.486) superfamily_FAD/NAD(P)-binding domain PRODH 5625 genome.wustl.edu 37 22 18910682 18910682 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016335.3 -1 reviewed p.S226 0.000 57 0% 51 41.2% - - - - - superfamily_FAD-linked oxidoreductase PRODH 5625 genome.wustl.edu 37 22 18918594 18918594 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016335.3 -1 reviewed p.R131W 1.000 93 1.1% 56 35.7% - - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) superfamily_FAD-linked oxidoreductase DGCR14 8220 genome.wustl.edu 37 22 19121778 19121778 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022719.2 -1 reviewed p.Q454H 0.994 272 0% 199 37.2% - - possibly_damaging(0.931) tolerated(0.12) deleterious(0.638) NULL CLTCL1 8218 genome.wustl.edu 37 22 19209480 19209480 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007098.3 -1 reviewed p.R852I 1.000 256 0% 153 29.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Clathrin,HMMSmart_SM00299 CDC45 8318 genome.wustl.edu 37 22 19504345 19504345 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003504.3 +1 reviewed p.F522C 1.000 178 0% 129 34.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CDC45 C22orf29 79680 genome.wustl.edu 37 22 19838958 19838958 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024627.5 -1 validated p.S276Y 0.004 188 0% 47 36.2% - - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL C22orf29 79680 genome.wustl.edu 37 22 19839751 19839751 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024627.5 -1 validated p.R12C 0.000 24 0% 20 25% - - benign(0.004) - - NULL COMT 1312 genome.wustl.edu 37 22 19950334 19950334 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000754.3 +1 reviewed p.K95N 0.812 132 0% 75 34.7% - - possibly_damaging(0.871) tolerated(0.13) deleterious(0.591) HMMPfam_Methyltransf_3,superfamily_S-adenosyl-L-methionine-dependent methyltransferases ZNF74 7625 genome.wustl.edu 37 22 20759929 20759929 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000357502 +1 known p.E208* 0.000 52 0% 22 45.5% - - - - - NULL ZNF74 7625 genome.wustl.edu 37 22 20760489 20760489 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003426.2 +1 validated p.Q389R 0.013 61 0% 73 31.5% - - benign(0.006) tolerated(0.32) neutral(0.024) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers KLHL22 84861 genome.wustl.edu 37 22 20819167 20819167 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032775.2 -1 validated p.R364* 1.000 35 0% 35 40% - - - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain PI4KA 5297 genome.wustl.edu 37 22 21098930 21098930 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_058004.2 -1 reviewed p.R1090C 1.000 179 0% 119 42.9% - - benign(0.392) tolerated(0.07) neutral(0.445) NULL SERPIND1 3053 genome.wustl.edu 37 22 21133880 21133880 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000185.3 +1 reviewed p.D94N 0.989 107 0% 76 38.2% - - possibly_damaging(0.551) tolerated(0.38) neutral(0.205) superfamily_Serpins,PatternScan_TONB_DEPENDENT_REC_1 PI4KA 5297 genome.wustl.edu 37 22 21174038 21174038 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_058004.2 -1 reviewed p.R169Q 0.997 272 0% 123 19.5% - - benign(0.012) tolerated(0.26) neutral(0.035) NULL CRKL 1399 genome.wustl.edu 37 22 21304053 21304053 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005207.3 +1 reviewed p.E278K 1.000 148 0% 93 29% - - probably_damaging(0.961) deleterious(0.01) deleterious(0.810) HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 P2RX6 9127 genome.wustl.edu 37 22 21370278 21370278 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005446.3 +1 reviewed p.P71L 1.000 151 0% 63 36.5% - - probably_damaging(1) tolerated(0.35) deleterious(0.520) HMMPfam_P2X_receptor PPIL2 23759 genome.wustl.edu 37 22 22041947 22041947 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_148176.2 +1 reviewed p.E305K 1.000 211 0% 98 29.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pro_isomerase,superfamily_CSA_PPIase TOP3B 8940 genome.wustl.edu 37 22 22312958 22312958 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000457270 -1 known p.S466L 0.731 225 0% 141 29.1% - - - - - NULL IGLV4-60 28785 genome.wustl.edu 37 22 22517066 22517066 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000390284 +1 known p.S118 0.000 135 0% 81 32.1% - - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGLV9-49 28773 genome.wustl.edu 37 22 22698012 22698012 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000427632 +1 known p.K100N 0.000 260 0% 123 31.7% - - benign(0.016) deleterious(0.02) neutral(0.384) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGLV1-47 28822 genome.wustl.edu 37 22 22712442 22712442 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000390294 +1 known p.T62M 0.002 319 0% 144 24.3% - - benign(0.016) deleterious(0.05) neutral(0.346) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGLV1-44 28823 genome.wustl.edu 37 22 22735507 22735507 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000390297 +1 known p.I48 0.001 279 0% 166 31.9% - - - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ZNF280A 129025 genome.wustl.edu 37 22 22868785 22868785 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080740.3 -1 reviewed p.G390 0.055 369 0% 171 37.4% - - - - - NULL ZNF280A 129025 genome.wustl.edu 37 22 22869781 22869781 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080740.3 -1 reviewed p.V58 0.007 500 0% 295 36.6% - - - - - NULL PRAME 23532 genome.wustl.edu 37 22 22890515 22890515 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006115.3 -1 reviewed p.L502 0.125 132 0% 72 37.5% - - - - - NULL IGLV3-22 28795 genome.wustl.edu 37 22 23047198 23047198 + Missense_Mutation SNP G G A rs149986188 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000390307 +1 known p.R79Q 0.265 115 0% 80 40% - - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin BCR 613 genome.wustl.edu 37 22 23615945 23615945 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004327.3 +1 reviewed p.T700M 0.999 146 0% 86 39.5% - - benign(0.317) tolerated(0.12) neutral(0.360) superfamily_PH domain-like BCR 613 genome.wustl.edu 37 22 23656784 23656784 + Silent SNP C C T rs56044087 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004327.3 +1 reviewed p.L1203 0.065 233 0% 157 16.6% - - - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP GSTT1 2952 genome.wustl.edu 37 22 24376476 24376476 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000853.2 -1 reviewed p.D224N 0.949 64 0% 64 18.8% - - benign(0.042) tolerated(0.12) neutral(0.263) superfamily_GST_C_like CABIN1 23523 genome.wustl.edu 37 22 24567727 24567727 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012295.2 +1 reviewed p.R1935Q 1.000 218 0% 100 38% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SPECC1L 23384 genome.wustl.edu 37 22 24717542 24717542 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145468.1 +1 validated p.E198D 0.965 74 0% 64 45.3% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL ADORA2A 135 genome.wustl.edu 37 22 24829582 24829582 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000675.4 +1 reviewed p.F70L 1.000 87 0% 88 34.1% - - benign(0.001) tolerated(1) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SNRPD3 6634 genome.wustl.edu 37 22 24953654 24953654 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004175.3 +1 reviewed p.G4 0.984 354 0% 237 28.3% - - - - - NULL ADRBK2 157 genome.wustl.edu 37 22 26063718 26063718 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005160.3 +1 reviewed p.E152* 1.000 207 0% 87 34.5% - - - - - HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam MYO18B 84700 genome.wustl.edu 37 22 26164252 26164252 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032608.5 +1 reviewed p.I123 0.007 97 0% 75 17.3% - - - - - NULL MYO18B 84700 genome.wustl.edu 37 22 26270322 26270322 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032608.5 +1 reviewed p.V1341I 0.040 246 0% 154 40.3% - - benign(0.003) tolerated(0.53) neutral(0.007) HMMPfam_IQ,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO18B 84700 genome.wustl.edu 37 22 26287328 26287328 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032608.5 +1 reviewed p.A1498S 1.000 310 0% 118 44.9% - - probably_damaging(0.998) tolerated(0.11) deleterious(0.746) NULL MYO18B 84700 genome.wustl.edu 37 22 26304312 26304312 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032608.5 +1 reviewed p.E1724D 1.000 114 0% 71 42.3% - - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) NULL SEZ6L 23544 genome.wustl.edu 37 22 26688767 26688767 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021115.4 +1 validated p.P164S 0.023 52 0% 35 28.6% - - possibly_damaging(0.485) tolerated(0.1) neutral(0.448) NULL SEZ6L 23544 genome.wustl.edu 37 22 26688897 26688897 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021115.4 +1 validated p.S207L 0.136 44 0% 27 22.2% - - benign(0) tolerated(0.14) neutral(0.249) NULL SEZ6L 23544 genome.wustl.edu 37 22 26707828 26707828 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021115.4 +1 validated p.F592L 1.000 127 0% 67 46.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain HPS4 89781 genome.wustl.edu 37 22 26862045 26862045 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000398141 -1 known p.K239N 0.002 25 0% 19 42.1% - - benign(0.024) tolerated(0.52) neutral(0.010) NULL TFIP11 24144 genome.wustl.edu 37 22 26902379 26902379 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008697.1 -1 validated p.K137T 1.000 265 0% 148 33.1% - - benign(0.005) tolerated(0.07) neutral(0.319) NULL CRYBA4 1413 genome.wustl.edu 37 22 27024290 27024290 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001886.2 +1 reviewed p.E113D 1.000 171 0% 108 38% - - benign(0.021) tolerated(0.36) neutral(0.021) HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF TTC28 23331 genome.wustl.edu 37 22 28394928 28394928 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145418.1 -1 validated p.F1573 0.604 82 1.2% 60 33.3% - - - - - NULL TTC28 23331 genome.wustl.edu 37 22 28501654 28501654 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145418.1 -1 validated p.E974K 1.000 197 0% 130 31.5% - - probably_damaging(0.974) tolerated(0.13) deleterious(0.668) HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 CHEK2 11200 genome.wustl.edu 37 22 29095873 29095873 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005735.1 -1 reviewed p.E364* 1.000 391 0% 216 19.4% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HSCB 150274 genome.wustl.edu 37 22 29140631 29140631 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000450178 +1 known p.R103* 0.939 243 0% 139 38.1% - - - - - NULL XBP1 7494 genome.wustl.edu 37 22 29193155 29193155 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079539.1 -1 reviewed p.E121D 1.000 340 0% 185 34.1% - - probably_damaging(0.994) tolerated(0.28) deleterious(0.484) HMMSmart_BRLZ,HMMPfam_bZIP_2 XBP1 7494 genome.wustl.edu 37 22 29193194 29193194 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079539.1 -1 reviewed e3-1 1.000 252 0% 131 41.2% - - - - - - KREMEN1 83999 genome.wustl.edu 37 22 29521332 29521332 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032045.4 +1 reviewed p.E187K 1.000 196 0% 133 33.8% - - possibly_damaging(0.837) deleterious(0.05) deleterious(0.665) HMMPfam_WSC RFPL1 5988 genome.wustl.edu 37 22 29835058 29835058 + Missense_Mutation SNP G G A rs112326135 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021026.2 +1 validated p.S93N 0.037 529 0.4% 300 39% - - benign(0) tolerated(0.65) neutral(0.003) superfamily_SSF57850 THOC5 8563 genome.wustl.edu 37 22 29932702 29932702 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001002877.1 -1 validated p.L209I 0.997 331 0% 186 28% - - benign(0.427) tolerated(0.1) neutral(0.425) HMMPfam_FimP NF2 4771 genome.wustl.edu 37 22 30054183 30054183 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000268.3 +1 reviewed p.E202A 1.000 329 0% 197 42.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 HORMAD2 150280 genome.wustl.edu 37 22 30494874 30494874 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152510.2 +1 provisional p.H29Y 0.153 283 0% 136 36% - - possibly_damaging(0.485) tolerated(0.82) neutral(0.162) HMMPfam_HORMA,superfamily_HORMA_DNA_bd OSM 5008 genome.wustl.edu 37 22 30661072 30661072 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020530.3 -1 reviewed p.S32 0.008 83 0% 59 11.9% - - - - - HMMPfam_LIF_OSM,HMMSmart_LIF_OSM,superfamily_4_helix_cytokine GAL3ST1 9514 genome.wustl.edu 37 22 30951427 30951427 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004861.1 -1 reviewed p.L262P 1.000 33 0% 37 27% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Gal-3-0_sulfotr GAL3ST1 9514 genome.wustl.edu 37 22 30953362 30953362 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004861.1 -1 reviewed p.K6N 1.000 127 0% 73 35.6% - - benign(0.075) deleterious(0) neutral(0.450) HMMPfam_Gal-3-0_sulfotr PES1 23481 genome.wustl.edu 37 22 30973083 30973083 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014303.2 -1 reviewed p.D573N 1.000 67 0% 31 29% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL OSBP2 23762 genome.wustl.edu 37 22 31091370 31091370 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030758.3 +1 reviewed p.A158 0.033 51 0% 33 27.3% - - - - - NULL SMTN 6525 genome.wustl.edu 37 22 31487398 31487398 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_134270.1 +1 reviewed p.I463 1.000 12 0% 12 58.3% - - - - - NULL INPP5J 27124 genome.wustl.edu 37 22 31529185 31529185 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001002837.1 +1 validated p.F397 0.988 172 0% 136 36% - - - - - NULL INPP5J 27124 genome.wustl.edu 37 22 31529643 31529643 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001002837.1 +1 validated p.I451 0.999 226 0% 175 33.7% - - - - - NULL PLA2G3 50487 genome.wustl.edu 37 22 31533797 31533797 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015715.3 -1 validated p.S322I 0.000 256 0% 132 37.1% - - possibly_damaging(0.887) deleterious(0) deleterious(0.791) NULL PLA2G3 50487 genome.wustl.edu 37 22 31534698 31534698 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015715.3 -1 validated p.R201Q 1.000 630 0% 409 38.6% - - probably_damaging(1) tolerated(0.29) deleterious(0.529) HMMPfam_Phospholip_A2_2,superfamily_Phospholipase A2 PLA2 LIMK2 3985 genome.wustl.edu 37 22 31663018 31663018 + Nonsense_Mutation SNP C C T rs114127458 byCluster;by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031801.1 +1 reviewed p.R343* 1.000 320 0% 153 37.3% - - - - - superfamily_Kinase_like,HMMPfam_Pkinase PIK3IP1 113791 genome.wustl.edu 37 22 31685650 31685650 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052880.4 -1 validated p.E115* 0.052 69 0% 35 34.3% - - - - - superfamily_Kringle-like PIK3IP1 113791 genome.wustl.edu 37 22 31685662 31685662 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052880.4 -1 validated p.A111T 0.000 64 0% 35 14.3% - - benign(0) tolerated(0.5) neutral(0.010) superfamily_Kringle-like SFI1 9814 genome.wustl.edu 37 22 31985511 31985511 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001007467.1 +1 validated p.R498* 0.088 86 0% 82 23.2% - - - - - NULL PRR14L 253143 genome.wustl.edu 37 22 32108310 32108310 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173566.2 -1 validated p.R1839W 1.000 218 0.9% 155 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRR14L 253143 genome.wustl.edu 37 22 32110409 32110409 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173566.2 -1 validated p.S1139Y 0.000 125 0% 71 39.4% - - possibly_damaging(0.926) deleterious(0.02) deleterious(0.758) NULL PRR14L 253143 genome.wustl.edu 37 22 32113035 32113035 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173566.2 -1 validated p.E264K 1.000 553 0% 356 32.6% - - probably_damaging(0.967) deleterious(0) deleterious(0.853) NULL DEPDC5 9681 genome.wustl.edu 37 22 32289670 32289670 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014662.2 +1 validated p.S1348Y 1.000 148 0% 123 37.4% - - possibly_damaging(0.527) tolerated(0.9) neutral(0.178) NULL DEPDC5 9681 genome.wustl.edu 37 22 32302399 32302399 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014662.2 +1 validated p.F1545L 1.000 53 0% 38 39.5% - - possibly_damaging(0.946) deleterious(0) deleterious(0.835) NULL C22orf24 25775 genome.wustl.edu 37 22 32330338 32330338 + Silent SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015372.1 -1 predicted p.L83 0.003 512 0% 245 34.7% - - - - - NULL SLC5A1 6523 genome.wustl.edu 37 22 32445936 32445936 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000343.3 +1 reviewed p.F48L 0.999 563 0% 310 13.9% - - benign(0) tolerated(0.65) neutral(0.003) NULL C22orf42 150297 genome.wustl.edu 37 22 32547515 32547515 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001010859.1 -1 provisional p.S142P 0.000 199 0% 112 39.3% - - benign(0.418) - - NULL SLC5A4 6527 genome.wustl.edu 37 22 32614660 32614660 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014227.2 -1 validated p.C607 0.948 104 0% 70 34.3% - - - - - NULL RFPL3 10738 genome.wustl.edu 37 22 32756529 32756529 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001098535.1 +1 validated p.D222N 0.000 354 0% 232 34.1% - - benign(0) tolerated(0.62) neutral(0.004) HMMPfam_SPRY,HMMSmart_SPRY FBXO7 25793 genome.wustl.edu 37 22 32887163 32887163 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012179.3 +1 reviewed p.R321Q 1.000 226 0.4% 132 34.8% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL SYN3 8224 genome.wustl.edu 37 22 32923929 32923929 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003490.3 -1 reviewed p.P432S 1.000 84 0% 77 41.6% - - probably_damaging(0.988) tolerated(0.68) neutral(0.440) NULL TIMP3 7078 genome.wustl.edu 37 22 33253284 33253284 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000362.4 +1 reviewed p.E85K 0.997 189 0% 92 39.1% - - probably_damaging(0.987) deleterious(0.05) deleterious(0.782) HMMPfam_TIMP,HMMSmart_SM00206,superfamily_TIMP-like LARGE 9215 genome.wustl.edu 37 22 33670548 33670548 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004737.4 -1 reviewed p.F712 1.000 391 0% 177 31.6% - - - - - NULL ISX 91464 genome.wustl.edu 37 22 35480377 35480377 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008494.1 +1 validated p.I128S 1.000 129 0% 82 37.8% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 TOM1 10043 genome.wustl.edu 37 22 35717988 35717988 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135732.1 +1 reviewed p.I58 0.001 187 0% 109 33% - - - - - HMMPfam_VHS,superfamily_ENTH_VHS,HMMSmart_VHS MCM5 4174 genome.wustl.edu 37 22 35817356 35817356 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006739.3 +1 reviewed p.M626I 1.000 72 0% 47 29.8% - - benign(0.302) tolerated(0.13) neutral(0.346) HMMPfam_MCM,HMMSmart_SM00350,superfamily_P-loop containing nucleoside triphosphate hydrolases LOC284912 284912 genome.wustl.edu 37 22 36031138 36031138 + RNA SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_041187.2 -1 model NULL 0.037 88 0% 57 17.5% - - - - - - MYH9 4627 genome.wustl.edu 37 22 36688172 36688172 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002473.4 -1 reviewed p.E1402K 1.000 104 0% 87 17.2% - - benign(0.019) tolerated(0.12) neutral(0.262) HMMPfam_Myosin_tail_1 CACNG2 10369 genome.wustl.edu 37 22 36960824 36960824 + Silent SNP G G A rs113130432 byFrequency TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006078.2 -1 reviewed p.F182 1.000 93 0% 86 36% - - - - - HMMPfam_PMP22_Claudin CACNG2 10369 genome.wustl.edu 37 22 36983581 36983581 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006078.2 -1 reviewed p.L76M 0.998 245 0% 167 32.9% - - benign(0) tolerated(0.29) neutral(0.029) HMMPfam_PMP22_Claudin NCF4 4689 genome.wustl.edu 37 22 37261016 37261016 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013416.3 +1 validated p.R58H 1.000 77 0% 44 22.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PX,HMMSmart_PX,superfamily_PX NCF4 4689 genome.wustl.edu 37 22 37263465 37263465 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013416.3 +1 validated p.I101 0.864 122 0% 72 31.9% - - - - - HMMPfam_PX,HMMSmart_PX,superfamily_PX CSF2RB 1439 genome.wustl.edu 37 22 37326859 37326859 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000395.2 +1 reviewed p.K333N 0.746 62 0% 56 37.5% - - probably_damaging(0.956) tolerated(0.19) neutral(0.449) NULL TMPRSS6 164656 genome.wustl.edu 37 22 37466963 37466963 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153609.2 -1 reviewed p.E564 0.998 29 0% 18 27.8% - - - - - HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module TMPRSS6 164656 genome.wustl.edu 37 22 37492724 37492724 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153609.2 -1 reviewed p.G132V 0.829 252 0% 117 47% - - possibly_damaging(0.606) deleterious(0.02) deleterious(0.593) superfamily_SEA domain SSTR3 6753 genome.wustl.edu 37 22 37603623 37603623 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001051.2 -1 reviewed p.A74T 1.000 62 0% 56 14.3% - - benign(0.01) deleterious(0.01) neutral(0.406) HMMPfam_7tm_1,superfamily_SSF81321 ELFN2 114794 genome.wustl.edu 37 22 37770002 37770002 + Missense_Mutation SNP C C T rs56845582 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052906.3 -1 validated p.E525K 1.000 42 0% 27 29.6% - - benign(0.03) tolerated(0.14) neutral(0.251) NULL ELFN2 114794 genome.wustl.edu 37 22 37771359 37771359 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052906.3 -1 validated p.Y72* 1.000 562 0% 313 39.6% - - - - - superfamily_SSF52058 MIR659 724029 genome.wustl.edu 37 22 38243770 38243770 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000384963 -1 known NULL 0.000 108 0% 62 40.3% - - - - - - EIF3L 51386 genome.wustl.edu 37 22 38266205 38266205 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016091.2 +1 validated p.R201H 1.000 465 0.2% 283 27.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Paf67 C22orf23 84645 genome.wustl.edu 37 22 38343373 38343373 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032561.2 -1 predicted p.L88 0.039 328 0% 183 35% - - - - - HMMPfam_UPF0193 KCNJ4 3761 genome.wustl.edu 37 22 38823557 38823557 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004981.1 -1 reviewed p.S194L 1.000 46 0% 43 37.2% - - possibly_damaging(0.795) deleterious(0.02) deleterious(0.681) HMMPfam_IRK,superfamily_Ig_E-set GTPBP1 9567 genome.wustl.edu 37 22 39117783 39117783 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004286.4 +1 reviewed p.E291* 1.000 213 0% 151 41.7% - - - - - HMMPfam_GTP_EFTU,superfamily_SSF52540 SUN2 25777 genome.wustl.edu 37 22 39146954 39146954 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015374.1 -1 validated p.E125K 0.874 49 0% 35 42.9% - - possibly_damaging(0.856) tolerated(0.27) neutral(0.364) NULL SUN2 25777 genome.wustl.edu 37 22 39148627 39148627 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015374.1 -1 validated p.R3* 0.984 61 0% 65 32.3% - - - - - NULL APOBEC3D 140564 genome.wustl.edu 37 22 39421321 39421321 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152426.3 +1 reviewed p.A153T 0.000 225 0% 135 42.2% - - probably_damaging(0.99) tolerated(0.51) neutral(0.451) HMMPfam_APOBEC_C,superfamily_Cytidine deaminase-like APOBEC3D 140564 genome.wustl.edu 37 22 39421596 39421596 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152426.3 +1 reviewed p.N175 0.000 411 0% 295 38.6% - - - - - HMMPfam_APOBEC_C,superfamily_Cytidine deaminase-like APOBEC3F 200316 genome.wustl.edu 37 22 39445579 39445579 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145298.5 +1 validated p.R239Q 0.006 196 0.5% 108 39.8% - - probably_damaging(0.997) tolerated(0.34) deleterious(0.489) HMMPfam_APOBEC_N,superfamily_Cytidine deaminase-like APOBEC3G 60489 genome.wustl.edu 37 22 39476947 39476947 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021822.2 +1 reviewed p.E61K 0.000 94 0% 65 16.9% - - benign(0) tolerated(1) - HMMPfam_APOBEC_N TAB1 10454 genome.wustl.edu 37 22 39811625 39811625 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000480990 +1 known p.T25M 0.728 52 0% 42 35.7% - - - - - NULL SMCR7L 54471 genome.wustl.edu 37 22 39908303 39908303 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019008.4 +1 validated p.R130L 1.000 47 0% 44 25% - - probably_damaging(0.996) tolerated(0.32) deleterious(0.486) NULL SMCR7L 54471 genome.wustl.edu 37 22 39908325 39908325 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000428069 +1 known p.E109* 1.000 47 0% 44 34.1% - - - - - NULL GRAP2 9402 genome.wustl.edu 37 22 40362132 40362132 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004810.2 +1 reviewed p.I143 1.000 166 0% 102 34.3% - - - - - superfamily_SH2 domain SGSM3 27352 genome.wustl.edu 37 22 40805011 40805011 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000417424 +1 known p.R42C 0.988 97 0% 49 24.5% - - - - - HMMPfam_RUN MKL1 57591 genome.wustl.edu 37 22 40807435 40807435 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020831.3 -1 validated p.D919N 1.000 113 0% 68 29.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MKL1 57591 genome.wustl.edu 37 22 40815229 40815229 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020831.3 -1 validated p.E405K 1.000 39 0% 53 37.7% - - probably_damaging(0.959) tolerated(0.11) deleterious(0.674) NULL MKL1 57591 genome.wustl.edu 37 22 40827457 40827457 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020831.3 -1 validated p.R31S 1.000 278 0% 179 32.4% - - benign(0.31) deleterious(0) deleterious(0.541) HMMSmart_RPEL MCHR1 2847 genome.wustl.edu 37 22 41077105 41077105 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005297.3 +1 reviewed p.D148N 1.000 232 0% 181 37.6% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ST13 6767 genome.wustl.edu 37 22 41226870 41226870 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003932.3 -1 reviewed p.R258* 1.000 288 0% 163 42.3% - - - - - NULL DNAJB7 150353 genome.wustl.edu 37 22 41257666 41257666 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145174.1 -1 provisional p.F111L 1.000 206 0% 115 32.2% - - benign(0.034) tolerated(0.18) neutral(0.058) superfamily_DnaJ_N L3MBTL2 83746 genome.wustl.edu 37 22 41625550 41625550 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031488.4 +1 validated p.R632I 1.000 146 0% 105 28.6% - - possibly_damaging(0.462) deleterious(0.01) deleterious(0.557) NULL CHADL 150356 genome.wustl.edu 37 22 41632540 41632540 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138481.1 -1 validated p.D671N 0.996 64 0% 36 44.4% - - benign(0.055) tolerated(0.28) neutral(0.035) superfamily_L domain-like RANGAP1 5905 genome.wustl.edu 37 22 41650450 41650450 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002883.2 -1 reviewed p.E374D 0.000 132 0% 99 12.1% - - benign(0.002) tolerated(0.78) neutral(0.001) NULL MEI1 150365 genome.wustl.edu 37 22 42119966 42119966 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152513.3 +1 validated p.L251F 1.000 570 0.2% 301 40.2% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_ARM repeat CCDC134 79879 genome.wustl.edu 37 22 42209814 42209814 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024821.2 +1 validated p.I184 0.319 154 0% 62 22.6% - - - - - NULL SEPT3 55964 genome.wustl.edu 37 22 42383641 42383641 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145733.2 +1 reviewed p.E143D 1.000 152 0% 100 29% - - benign(0.003) deleterious(0) neutral(0.445) HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM109B 150368 genome.wustl.edu 37 22 42473765 42473765 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001002034.2 +1 validated p.R156 0.000 60 0% 37 45.9% - - - - - NULL CYP2D7P1 1564 genome.wustl.edu 37 22 42537682 42537682 + RNA SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_002570.2 -1 validated NULL 0.926 66 0% 33 39.4% - - unknown(0) - - - TCF20 6942 genome.wustl.edu 37 22 42608518 42608518 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005650.1 -1 reviewed p.D932Y 1.000 110 0% 67 40.3% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL RRP7A 27341 genome.wustl.edu 37 22 42908976 42908976 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015703.4 -1 validated p.F261 0.995 49 0% 30 26.7% - - - - - NULL CYB5R3 1727 genome.wustl.edu 37 22 43019850 43019850 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000398.6 -1 reviewed p.R226S 1.000 160 0% 113 33.6% - - benign(0.001) tolerated(0.06) neutral(0.323) HMMPfam_NAD_binding_1,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain ARFGAP3 26286 genome.wustl.edu 37 22 43195060 43195060 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014570.4 -1 reviewed p.V506 0.993 205 0% 128 41.4% - - - - - NULL TTLL12 23170 genome.wustl.edu 37 22 43568480 43568480 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015140.3 -1 validated p.I474 0.044 243 0% 125 40% - - - - - HMMPfam_TTL SCUBE1 80274 genome.wustl.edu 37 22 43716024 43716024 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173050.2 -1 validated p.E90K 1.000 268 0% 202 46.5% - - possibly_damaging(0.922) tolerated(0.71) neutral(0.373) HMMSmart_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 MPPED1 758 genome.wustl.edu 37 22 43894153 43894153 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001044370.1 +1 validated p.R224Q 1.000 46 0% 42 40.5% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases EFCAB6 64800 genome.wustl.edu 37 22 44031028 44031028 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022785.2 -1 validated p.F684 0.000 404 0.2% 258 38.8% - - - - - superfamily_EF-hand EFCAB6 64800 genome.wustl.edu 37 22 44107407 44107407 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022785.2 -1 validated p.D327N 0.961 179 0% 104 16.3% - - probably_damaging(1) tolerated(0.62) deleterious(0.504) HMMSmart_SM00054,superfamily_EF-hand EFCAB6 64800 genome.wustl.edu 37 22 44107408 44107408 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022785.2 -1 validated p.L326 0.002 181 0% 104 14.4% - - - - - HMMSmart_SM00054,superfamily_EF-hand PNPLA3 80339 genome.wustl.edu 37 22 44330542 44330542 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025225.2 +1 reviewed p.E251D 0.250 863 0% 396 35.6% - - probably_damaging(0.955) tolerated(0.1) deleterious(0.685) NULL PARVB 29780 genome.wustl.edu 37 22 44543754 44543754 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001003828.1 +1 validated p.F275 0.997 183 0% 107 45.8% - - - - - superfamily_Calponin-homology SMC1B 27127 genome.wustl.edu 37 22 45748465 45748465 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_148674.3 -1 validated p.E1097D 1.000 199 0% 115 35.7% - - benign(0.417) tolerated(0.65) neutral(0.138) HMMPfam_SMC_N,superfamily_SSF52540 SMC1B 27127 genome.wustl.edu 37 22 45779373 45779373 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_148674.3 -1 validated p.R678* 1.000 760 0% 317 30.9% - - - - - HMMPfam_SMC_N,superfamily_SMC_hinge,superfamily_SSF52540 FBLN1 2192 genome.wustl.edu 37 22 45914568 45914568 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006486.2 +1 reviewed p.A29V 0.024 98 0% 69 27.5% - - unknown(0) tolerated(0.05) - NULL PKDREJ 10343 genome.wustl.edu 37 22 46653952 46653952 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006071.1 -1 reviewed p.K1756 0.001 151 0% 87 36.8% - - - - - HMMPfam_PKD_channel PKDREJ 10343 genome.wustl.edu 37 22 46655859 46655859 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006071.1 -1 reviewed p.L1121I 0.012 329 0% 215 38.1% - - possibly_damaging(0.799) tolerated(0.28) neutral(0.333) HMMSmart_SM00303 PKDREJ 10343 genome.wustl.edu 37 22 46656810 46656810 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006071.1 -1 reviewed p.E804* 0.995 194 0% 114 32.5% - - - - - NULL TTC38 55020 genome.wustl.edu 37 22 46681152 46681152 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017931.2 +1 validated p.A270 0.038 364 0% 185 38.9% - - - - - superfamily_SSF48452 GTSE1 51512 genome.wustl.edu 37 22 46704101 46704101 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016426.6 +1 reviewed p.S45* 0.823 367 0% 252 38.5% - - - - - NULL TRMU 55687 genome.wustl.edu 37 22 46751422 46751422 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018006.4 +1 reviewed p.A319T 0.021 32 0% 27 29.6% - - possibly_damaging(0.712) tolerated(0.56) neutral(0.264) HMMPfam_tRNA_Me_trans CELSR1 9620 genome.wustl.edu 37 22 46765589 46765589 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014246.1 -1 reviewed p.I2624 0.035 106 0% 57 40.4% - - - - - HMMPfam_7tm_2 CERK 64781 genome.wustl.edu 37 22 47116085 47116085 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022766.5 -1 validated p.R93* 0.011 85 0% 92 51.1% - - - - - HMMSmart_PH TBC1D22A 25771 genome.wustl.edu 37 22 47193454 47193454 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014346.1 +1 provisional p.E192K 0.961 37 0% 21 33.3% - - benign(0) tolerated(0.48) neutral(0.011) superfamily_Ypt/Rab-GAP domain of gyp1p ALG12 79087 genome.wustl.edu 37 22 50297444 50297444 + Missense_Mutation SNP C C T rs143461758 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000332276 -1 known p.A148T 0.000 46 0% 30 23.3% - - unknown(0) - - NULL IL17REL 400935 genome.wustl.edu 37 22 50436132 50436132 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001694.2 -1 validated p.E287K 0.000 198 0% 112 37.5% - - benign(0) tolerated(0.78) neutral(0.001) NULL MOV10L1 54456 genome.wustl.edu 37 22 50598210 50598210 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018995.2 +1 reviewed p.S1107L 0.999 272 0% 124 27.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases TUBGCP6 85378 genome.wustl.edu 37 22 50659099 50659099 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020461.3 -1 reviewed p.S1230L 0.034 78 0% 47 12.8% - - unknown(0) deleterious(0) - HMMPfam_Spc97_Spc98 TUBGCP6 85378 genome.wustl.edu 37 22 50660915 50660915 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020461.3 -1 reviewed p.R793C 0.102 77 0% 54 38.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Spc97_Spc98 LMF2 91289 genome.wustl.edu 37 22 50944126 50944126 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033200.2 -1 validated p.G273D 0.002 41 0% 41 29.3% - - benign(0.086) tolerated(0.64) neutral(0.009) HMMPfam_DUF1222 LMF2 91289 genome.wustl.edu 37 22 50944590 50944590 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000487499 -1 known p.R223C 0.619 26 0% 23 21.7% - - - - - HMMPfam_DUF1222 NCAPH2 29781 genome.wustl.edu 37 22 50960827 50960827 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152299.3 +1 reviewed p.E430G 0.886 46 0% 38 42.1% - - probably_damaging(0.996) tolerated(0.2) deleterious(0.511) HMMPfam_DUF1032 CPT1B 1375 genome.wustl.edu 37 22 51008047 51008047 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145135.1 -1 reviewed p.T731 0.967 185 0% 127 37.8% - - - - - HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases CHKB 1120 genome.wustl.edu 37 22 51018176 51018176 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005198.4 -1 reviewed p.D337E 0.350 331 0% 218 35.8% - - benign(0) tolerated(0.36) neutral(0.020) superfamily_Protein kinase-like (PK-like) ACR 49 genome.wustl.edu 37 22 51183233 51183233 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001097.2 +1 reviewed p.K288N 0.994 202 0% 127 39.4% - - benign(0.292) deleterious(0.02) deleterious(0.473) superfamily_Pept_Ser_Cys ACR 49 genome.wustl.edu 37 22 51183292 51183292 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001097.2 +1 reviewed p.R308Q 0.000 195 0% 123 42.3% - - benign(0.012) tolerated(0.49) neutral(0.011) NULL PLCXD1 55344 genome.wustl.edu 37 X 215973 215973 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018390.3 +1 reviewed p.A315T 0.199 142 0% 110 40.9% - - benign(0.001) tolerated(0.59) neutral(0.004) superfamily_PLC-like_Pdiesterase_TIM-brl GTPBP6 8225 genome.wustl.edu 37 X 224035 224035 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000400701 -1 known p.A244T 0.001 58 0% 51 11.8% - - - - - NULL GTPBP6 8225 genome.wustl.edu 37 X 228284 228284 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000400701 -1 known p.A80T 0.874 146 0% 148 34.5% - - - - - HMMPfam_MMR_HSR1,superfamily_P-loop containing nucleoside triphosphate hydrolases PPP2R3B 28227 genome.wustl.edu 37 X 306357 306357 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013239.4 -1 reviewed p.F310L 1.000 257 0% 191 33% - - benign(0.409) deleterious(0) deleterious(0.577) superfamily_EF-hand SHOX 6473 genome.wustl.edu 37 X 591654 591654 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000451.3 +1 reviewed p.V8L 1.000 322 0.3% 130 33.8% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL CSF2RA 1438 genome.wustl.edu 37 X 1409267 1409267 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006140.4 +1 reviewed p.D171Y 0.002 568 0% 282 31.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Fibronectin type III SLC25A6 293 genome.wustl.edu 37 X 1506218 1506218 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001636.3 -1 reviewed p.F231 0.991 97 0% 71 33.8% - - - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr SLC25A6 293 genome.wustl.edu 37 X 1508156 1508156 + Silent SNP G G A rs191387595 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001636.3 -1 reviewed p.F192 1.000 118 0% 88 33% - - - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr P2RY8 286530 genome.wustl.edu 37 X 1584490 1584490 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_178129.4 -1 reviewed p.R321H 0.002 74 0% 58 39.7% - - benign(0.011) tolerated(0.31) neutral(0.028) superfamily_SSF81321 AKAP17A 8227 genome.wustl.edu 37 X 1712613 1712613 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005088.2 +1 validated p.K86N 0.985 165 0% 110 28.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL AKAP17A 8227 genome.wustl.edu 37 X 1712872 1712872 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005088.2 +1 validated p.V173I 0.926 137 0% 82 48.8% - - possibly_damaging(0.749) tolerated(1) neutral(0.275) NULL ZBED1 9189 genome.wustl.edu 37 X 2406915 2406915 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004729.3 -1 reviewed p.V616I 0.993 84 0% 89 31.5% - - possibly_damaging(0.862) tolerated(0.09) deleterious(0.629) HMMPfam_hATC ZBED1 9189 genome.wustl.edu 37 X 2408667 2408667 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004729.3 -1 reviewed p.D32N 1.000 386 0% 232 35.8% - - probably_damaging(0.982) tolerated(0.6) neutral(0.431) HMMPfam_zf-BED,HMMSmart_ZnF_BED XG 7499 genome.wustl.edu 37 X 2726245 2726245 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001141919.1 +1 reviewed p.T146 0.009 250 0% 139 32.4% - - - - - NULL ARSH 347527 genome.wustl.edu 37 X 2947303 2947303 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001011719.1 +1 validated p.Q405H 0.066 389 0% 182 42.3% - - benign(0) tolerated(0.2) neutral(0.049) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core ARSH 347527 genome.wustl.edu 37 X 2951169 2951169 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001011719.1 +1 validated p.D478N 0.995 207 0% 131 38.2% - - benign(0.021) tolerated(0.17) neutral(0.060) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core ARSF 416 genome.wustl.edu 37 X 3030450 3030450 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004042.3 +1 reviewed p.Q542H 0.000 248 0% 137 14.6% - - benign(0.394) deleterious(0.03) deleterious(0.491) superfamily_Alkaline phosphatase-like MXRA5 25878 genome.wustl.edu 37 X 3235223 3235223 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015419.3 -1 reviewed p.D2167Y 1.000 28 0% 25 20% - - benign(0.119) deleterious(0.04) neutral(0.358) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MXRA5 25878 genome.wustl.edu 37 X 3242757 3242757 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015419.3 -1 reviewed p.T323 0.197 385 0% 220 34.5% - - - - - NULL NLGN4X 57502 genome.wustl.edu 37 X 5811289 5811289 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020742.2 -1 reviewed p.E674K 0.998 619 0.2% 331 42% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL NLGN4X 57502 genome.wustl.edu 37 X 5947436 5947436 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020742.2 -1 reviewed p.V170 0.788 290 0% 178 26.4% - - - - - HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases VCX 26609 genome.wustl.edu 37 X 7811769 7811769 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013452.2 +1 reviewed p.E111D 0.978 614 0% 383 29.5% - - unknown(0) tolerated(0.11) - NULL PNPLA4 8228 genome.wustl.edu 37 X 7868791 7868791 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142389.1 -1 reviewed p.S233F 0.001 271 0% 110 22.7% - - benign(0.003) deleterious(0.01) neutral(0.406) NULL WWC3 55841 genome.wustl.edu 37 X 10085535 10085535 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015691.3 +1 validated p.S479L 1.000 15 0% 20 50% - - possibly_damaging(0.454) tolerated(0.17) neutral(0.207) NULL WWC3 55841 genome.wustl.edu 37 X 10090724 10090724 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015691.3 +1 validated p.L566M 1.000 214 0% 153 37.3% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL MID1 4281 genome.wustl.edu 37 X 10450555 10450555 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000381.2 -1 reviewed p.A326 0.892 260 0% 159 37.1% - - - - - HMMSmart_SM00502 MID1 4281 genome.wustl.edu 37 X 10534974 10534974 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000381.2 -1 reviewed p.R205H 1.000 224 0% 126 33.3% - - probably_damaging(0.984) deleterious(0.02) deleterious(0.814) HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_B-box zinc-binding domain AMELX 265 genome.wustl.edu 37 X 11316692 11316692 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182680.1 +1 reviewed p.M71V 1.000 235 0% 140 32.9% - - benign(0.007) tolerated(0.25) neutral(0.037) HMMPfam_Amelogenin,HMMSmart_SM00818 FRMPD4 9758 genome.wustl.edu 37 X 12692997 12692997 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014728.3 +1 reviewed p.S146 1.000 598 0% 363 39.4% - - - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ FRMPD4 9758 genome.wustl.edu 37 X 12722496 12722496 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014728.3 +1 reviewed p.E363 1.000 294 0% 133 33.8% - - - - - HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 TLR7 51284 genome.wustl.edu 37 X 12905209 12905209 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016562.3 +1 reviewed p.L528I 0.311 187 0% 72 31.9% - - benign(0) deleterious(0.02) neutral(0.383) HMMSmart_SM00369,superfamily_L domain-like TLR7 51284 genome.wustl.edu 37 X 12906409 12906409 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016562.3 +1 reviewed p.L928I 1.000 149 0% 105 33.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain TLR8 51311 genome.wustl.edu 37 X 12938183 12938183 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138636.4 +1 reviewed p.L342I 0.422 163 0% 91 30.8% - - possibly_damaging(0.67) tolerated(0.22) neutral(0.279) superfamily_SSF52047 ATXN3L 92552 genome.wustl.edu 37 X 13338018 13338018 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001135995.1 -1 validated p.F12 0.549 202 0% 146 47.9% - - - - - HMMPfam_Josephin RAB9A 9367 genome.wustl.edu 37 X 13727253 13727253 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004251.3 +1 provisional p.E130K 1.000 177 0% 102 44.1% - - benign(0.021) tolerated(0.58) neutral(0.006) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases OFD1 8481 genome.wustl.edu 37 X 13780491 13780491 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003611.2 +1 reviewed p.D806N 0.147 242 0% 101 30.7% - - benign(0.106) deleterious(0.01) neutral(0.414) NULL OFD1 8481 genome.wustl.edu 37 X 13785377 13785377 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003611.2 +1 reviewed p.E911* 0.862 523 0% 133 26.3% - - - - - NULL GEMIN8 54960 genome.wustl.edu 37 X 14038255 14038255 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042479.1 -1 reviewed p.E138D 0.993 254 0% 159 35.2% - - probably_damaging(0.955) tolerated(0.38) neutral(0.416) NULL GLRA2 2742 genome.wustl.edu 37 X 14748516 14748516 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001118885.1 +1 reviewed p.R423Q 1.000 337 0% 174 35.1% - - probably_damaging(0.997) tolerated(0.08) deleterious(0.766) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore FANCB 2187 genome.wustl.edu 37 X 14861831 14861831 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001018113.1 -1 reviewed p.R813I 0.357 490 0% 303 36% - - possibly_damaging(0.922) deleterious(0.01) deleterious(0.777) NULL MOSPD2 158747 genome.wustl.edu 37 X 14930383 14930383 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152581.3 +1 validated p.E298K 0.827 230 0% 64 35.9% - - probably_damaging(0.989) tolerated(0.32) neutral(0.464) NULL ASB11 140456 genome.wustl.edu 37 X 15307642 15307642 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080873.1 -1 reviewed p.K213N 1.000 179 0% 88 36.4% - - probably_damaging(0.997) tolerated(0.07) deleterious(0.785) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ASB11 140456 genome.wustl.edu 37 X 15320904 15320904 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080873.1 -1 reviewed p.L69 0.998 193 0% 107 30.8% - - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ASB11 140456 genome.wustl.edu 37 X 15333608 15333608 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080873.1 -1 reviewed p.I40 1.000 239 0% 113 40.7% - - - - - superfamily_ANK PIGA 5277 genome.wustl.edu 37 X 15349658 15349658 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002641.2 -1 reviewed p.S132Y 1.000 365 0% 188 37.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PIGA,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase BMX 660 genome.wustl.edu 37 X 15540684 15540684 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001721.6 +1 reviewed p.D242 1.000 194 0% 107 11.2% - - - - - NULL BMX 660 genome.wustl.edu 37 X 15543480 15543480 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001721.6 +1 reviewed p.K274N 1.000 298 0% 105 36.2% - - probably_damaging(0.99) tolerated(0.08) deleterious(0.742) NULL ACE2 59272 genome.wustl.edu 37 X 15580081 15580081 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021804.2 -1 reviewed p.G789* 0.078 698 0% 359 38.4% - - - - - NULL ACE2 59272 genome.wustl.edu 37 X 15589784 15589784 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021804.2 -1 reviewed p.K600N 0.474 423 0% 277 42.6% - - benign(0.29) tolerated(0.25) neutral(0.127) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" ACE2 59272 genome.wustl.edu 37 X 15599472 15599472 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021804.2 -1 reviewed p.F314L 1.000 228 0.4% 133 41.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" AP1S2 8905 genome.wustl.edu 37 X 15870608 15870608 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003916.3 -1 reviewed p.R14* 1.000 574 0% 309 40.1% - - - - - HMMPfam_Clat_adaptor_s,superfamily_SNARE-like REPS2 9185 genome.wustl.edu 37 X 17065476 17065476 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004726.2 +1 reviewed p.S260P 1.000 309 0% 149 32.2% - - probably_damaging(0.999) tolerated(0.19) deleterious(0.540) NULL NHS 4810 genome.wustl.edu 37 X 17744205 17744205 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198270.2 +1 reviewed p.S639Y 1.000 138 0% 88 37.5% - - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL SCML1 6322 genome.wustl.edu 37 X 17767569 17767569 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001037540.1 +1 validated p.R83H 0.000 443 0.2% 198 36.9% - - possibly_damaging(0.646) tolerated(0.33) neutral(0.251) NULL SCML2 10389 genome.wustl.edu 37 X 18260655 18260655 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006089.2 -1 validated p.K626N 1.000 300 0% 161 38.5% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_SAM/Pointed domain SCML2 10389 genome.wustl.edu 37 X 18338497 18338497 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006089.2 -1 validated p.K147N 0.731 415 0% 254 36.6% - - possibly_damaging(0.927) deleterious(0) deleterious(0.820) HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT CDKL5 6792 genome.wustl.edu 37 X 18622684 18622684 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001037343.1 +1 reviewed p.R547I 1.000 525 0% 312 15.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CDKL5 6792 genome.wustl.edu 37 X 18643346 18643346 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001037343.1 +1 reviewed p.K825N 0.999 192 0% 119 41.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CDKL5 6792 genome.wustl.edu 37 X 18671655 18671655 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001037343.1 +1 reviewed p.T1028 0.000 83 1.2% 74 35.1% - - - - - NULL PHKA2 5256 genome.wustl.edu 37 X 18959751 18959751 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000292.2 -1 reviewed p.E254* 1.000 297 0% 163 42.9% - - - - - HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases GPR64 10149 genome.wustl.edu 37 X 19014235 19014235 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079858.2 -1 validated p.E884* 1.000 345 0% 177 36.2% - - - - - HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_Family A G protein-coupled receptor-like GPR64 10149 genome.wustl.edu 37 X 19021184 19021184 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079858.2 -1 validated p.A670 0.944 185 0% 77 33.8% - - - - - HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like GPR64 10149 genome.wustl.edu 37 X 19025360 19025360 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001079858.2 -1 validated p.P561L 0.000 451 0% 313 34.5% - - possibly_damaging(0.736) deleterious(0.02) deleterious(0.652) NULL SH3KBP1 30011 genome.wustl.edu 37 X 19606857 19606857 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031892.2 -1 reviewed p.K401T 1.000 623 0% 370 12.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CXorf23 256643 genome.wustl.edu 37 X 19984268 19984268 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198279.3 -1 validated p.E181* 1.000 497 0% 246 30.5% - - - - - NULL MAP7D2 256714 genome.wustl.edu 37 X 20034378 20034378 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152780.3 -1 validated p.R452Q 0.046 530 0% 367 36% - - unknown(0) tolerated(0.11) - HMMPfam_MAP7 MAP7D2 256714 genome.wustl.edu 37 X 20060723 20060723 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152780.3 -1 validated p.R261* 0.001 148 0% 88 34.1% - - - - - NULL RPS6KA3 6197 genome.wustl.edu 37 X 20194574 20194574 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004586.2 -1 reviewed p.F326S 1.000 151 0% 99 29.3% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CNKSR2 22866 genome.wustl.edu 37 X 21450785 21450785 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014927.3 +1 reviewed p.S95Y 1.000 160 0% 107 29% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_CRIC_ras_sig CNKSR2 22866 genome.wustl.edu 37 X 21508597 21508597 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014927.3 +1 reviewed p.V194 0.999 312 0.3% 152 38.8% - - - - - NULL PHEX 5251 genome.wustl.edu 37 X 22263474 22263474 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000444.4 +1 reviewed p.E699K 1.000 262 0% 123 33.3% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Peptidase_M13,superfamily_SSF55486 DDX53 168400 genome.wustl.edu 37 X 23018344 23018344 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182699.2 +1 validated p.N57S 0.000 256 0% 121 29.8% - - benign(0.01) tolerated(1) neutral(0.001) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 DDX53 168400 genome.wustl.edu 37 X 23019771 23019771 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_182699.2 +1 validated p.L533F 0.988 260 0% 154 34.4% - - benign(0.017) deleterious(0) neutral(0.445) HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 LOC653707 653707 genome.wustl.edu 37 X 23216599 23216599 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343798.1 +1 model p.K48N 0.085 500 0.2% 292 34.6% - - - - - NULL PTCHD1 139411 genome.wustl.edu 37 X 23411151 23411151 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173495.2 +1 validated p.L506I 1.000 197 0% 113 38.9% - - benign(0.115) tolerated(0.93) neutral(0.009) HMMPfam_Patched ACOT9 23597 genome.wustl.edu 37 X 23722831 23722831 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001037171.1 -1 reviewed p.V413A 1.000 387 0% 218 38.5% - - probably_damaging(0.961) deleterious(0) deleterious(0.849) superfamily_Thioesterase/thiol ester dehydrase-isomerase ACOT9 23597 genome.wustl.edu 37 X 23740088 23740088 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001037171.1 -1 reviewed p.K166N 0.017 296 0% 174 33.9% - - benign(0.001) tolerated(0.34) neutral(0.023) superfamily_Thioesterase/thiol ester dehydrase-isomerase SAT1 6303 genome.wustl.edu 37 X 23801977 23801977 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002970.2 +1 reviewed p.P60L 1.000 294 0% 178 38.2% - - probably_damaging(0.969) deleterious(0.03) deleterious(0.776) superfamily_Acyl-CoA N-acyltransferases (Nat) CXorf58 254158 genome.wustl.edu 37 X 23953312 23953312 + Splice_Site SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152761.2 +1 validated e6-1 0.995 166 0% 91 31.9% - - - - - - KLHL15 80311 genome.wustl.edu 37 X 24006955 24006955 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030624.2 -1 reviewed p.L300I 1.000 150 0% 97 34% - - benign(0.085) tolerated(0.51) neutral(0.015) superfamily_Gal_oxid_central KLHL15 80311 genome.wustl.edu 37 X 24024640 24024640 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_030624.2 -1 reviewed p.R57S 1.000 151 0% 148 43.2% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB FAM48B2 170067 genome.wustl.edu 37 X 24329928 24329928 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136233.1 -1 provisional p.A502V 0.000 104 0% 55 45.5% - - - - - NULL POLA1 5422 genome.wustl.edu 37 X 24735004 24735004 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016937.3 +1 reviewed p.V202F 0.897 279 0% 109 40.4% - - benign(0) tolerated(0.39) neutral(0.016) NULL POLA1 5422 genome.wustl.edu 37 X 24745074 24745074 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016937.3 +1 reviewed p.D467N 1.000 207 0% 127 26% - - benign(0.039) tolerated(0.59) neutral(0.006) HMMPfam_DNA_pol_B_exo,superfamily_RNaseH_fold POLA1 5422 genome.wustl.edu 37 X 24833169 24833169 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016937.3 +1 reviewed p.E1118* 1.000 349 0% 149 31.5% - - - - - HMMPfam_DNA_pol_B,superfamily_SSF56672 ARX 170302 genome.wustl.edu 37 X 25022875 25022875 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_139058.2 -1 reviewed p.A534V 1.000 19 0% 16 31.2% - - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) HMMPfam_OAR MAGEB6 158809 genome.wustl.edu 37 X 26212723 26212723 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173523.2 +1 reviewed p.E254K 0.004 191 0% 117 41% - - probably_damaging(0.986) tolerated(0.07) deleterious(0.754) HMMPfam_MAGE MAGEB6 158809 genome.wustl.edu 37 X 26212948 26212948 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173523.2 +1 reviewed p.R329W 0.000 714 0.1% 327 36.1% - - benign(0.397) deleterious(0.04) deleterious(0.476) HMMPfam_MAGE MAGEB6 158809 genome.wustl.edu 37 X 26213146 26213146 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173523.2 +1 reviewed p.L395V 0.000 252 0% 129 39.5% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DCAF8L1 139425 genome.wustl.edu 37 X 27998088 27998088 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017930.1 -1 reviewed p.S455N 1.000 225 0% 135 37.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_WD40,superfamily_WD40_like DCAF8L1 139425 genome.wustl.edu 37 X 27998341 27998341 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017930.1 -1 reviewed p.E371* 0.855 447 0% 234 31.6% - - - - - superfamily_WD40_like DCAF8L1 139425 genome.wustl.edu 37 X 27998992 27998992 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001017930.1 -1 reviewed p.R154C 0.994 172 0% 108 37% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_WD40_like IL1RAPL1 11141 genome.wustl.edu 37 X 29301070 29301070 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014271.3 +1 reviewed p.D33G 1.000 321 0% 199 37.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Immunoglobulin IL1RAPL1 11141 genome.wustl.edu 37 X 29973723 29973723 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014271.3 +1 reviewed p.R626Q 1.000 137 0% 89 37.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MAGEB2 4113 genome.wustl.edu 37 X 30237087 30237087 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002364.4 +1 reviewed p.K130N 0.010 219 0% 111 31.5% - - benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_MAGE MAGEB4 4115 genome.wustl.edu 37 X 30260349 30260349 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002367.3 +1 reviewed p.A33T 0.004 302 0% 170 34.1% - - probably_damaging(0.973) tolerated(0.37) neutral(0.434) NULL MAGEB1 4112 genome.wustl.edu 37 X 30268716 30268716 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002363.4 +1 reviewed p.E36* 0.000 70 0% 52 44.2% - - - - - NULL CXorf21 80231 genome.wustl.edu 37 X 30578160 30578160 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_025159.2 -1 validated p.D105Y 0.756 182 0% 118 41.5% - - benign(0) tolerated(0.06) neutral(0.323) NULL GK 2710 genome.wustl.edu 37 X 30719011 30719011 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128127.1 +1 reviewed p.Q274H 0.998 347 0% 144 35.4% - - possibly_damaging(0.905) deleterious(0.03) deleterious(0.724) HMMPfam_FGGY_C,superfamily_SSF53067 TAB3 257397 genome.wustl.edu 37 X 30872556 30872556 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152787.3 -1 reviewed p.S409F 1.000 916 0% 412 34% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL FTHL17 53940 genome.wustl.edu 37 X 31089824 31089824 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031894.2 -1 reviewed p.L83I 0.005 101 0% 81 17.3% - - benign(0.043) deleterious(0) neutral(0.447) HMMPfam_Ferritin,superfamily_Ferritin/RR_like DMD 1756 genome.wustl.edu 37 X 31139979 31139979 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004021.2 -1 reviewed p.V1235F 1.000 402 0% 181 29.3% - - unknown(0) deleterious(0) - NULL DMD 1756 genome.wustl.edu 37 X 31196786 31196786 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004006.2 -1 reviewed p.T3408N 1.000 442 0% 240 28.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DMD 1756 genome.wustl.edu 37 X 31462732 31462732 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004006.2 -1 reviewed p.E2984* 1.000 255 0% 167 34.7% - - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 31497160 31497160 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004006.2 -1 reviewed p.R2870* 0.993 486 0.2% 231 35.9% - - - - - HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 31525436 31525436 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004006.2 -1 reviewed p.F2784L 1.000 764 0% 425 38.6% - - benign(0.001) tolerated(0.67) neutral(0.003) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 31645951 31645951 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004006.2 -1 reviewed p.E2686* 1.000 222 0% 137 34.3% - - - - - HMMPfam_Spectrin,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32456460 32456460 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004006.2 -1 reviewed p.I1323 1.000 507 0% 270 27.8% - - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32466746 32466746 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004006.2 -1 reviewed p.E1205* 1.000 397 0.3% 203 36.5% - - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32536099 32536099 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000288447 -1 known p.S765Y 0.000 98 0% 48 31.2% - - benign(0) - - NULL DMD 1756 genome.wustl.edu 37 X 32632488 32632488 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004006.2 -1 reviewed p.R472 0.994 1121 0% 506 37% - - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat FAM47A 158724 genome.wustl.edu 37 X 34148044 34148044 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_203408.3 -1 validated p.I784 0.000 246 0% 105 38.1% - - - - - NULL FAM47A 158724 genome.wustl.edu 37 X 34149477 34149477 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_203408.3 -1 validated p.E307K 0.051 73 0% 29 20.7% - - probably_damaging(0.995) tolerated(0.38) deleterious(0.475) NULL TMEM47 83604 genome.wustl.edu 37 X 34648451 34648451 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031442.3 -1 reviewed p.K175N 1.000 697 0% 276 37.3% - - benign(0.072) tolerated(0.2) neutral(0.054) NULL FAM47B 170062 genome.wustl.edu 37 X 34962165 34962165 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152631.2 +1 validated p.R406Q 0.076 145 0% 129 17.1% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL FAM47B 170062 genome.wustl.edu 37 X 34962588 34962588 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152631.2 +1 validated p.R547M 0.002 251 0% 134 16.4% - - probably_damaging(0.984) deleterious(0.01) deleterious(0.836) NULL CXorf22 170063 genome.wustl.edu 37 X 35944221 35944221 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152632.3 +1 validated p.E113K 0.644 197 0% 84 27.4% - - probably_damaging(0.956) tolerated(0.08) deleterious(0.700) NULL CXorf22 170063 genome.wustl.edu 37 X 35989839 35989839 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152632.3 +1 validated p.L703 0.003 74 0% 25 24% - - - - - NULL CXorf22 170063 genome.wustl.edu 37 X 35993380 35993380 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152632.3 +1 validated p.E791* 0.997 301 0% 139 12.9% - - - - - NULL FAM47C 442444 genome.wustl.edu 37 X 37027397 37027397 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013736.2 +1 validated p.D305A 0.098 252 0% 165 23.6% - - unknown(0) tolerated(0.27) - NULL FAM47C 442444 genome.wustl.edu 37 X 37028317 37028317 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013736.2 +1 validated p.E612* 0.000 198 0% 122 18% - - - - - NULL PRRG1 5638 genome.wustl.edu 37 X 37312719 37312719 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000950.2 +1 reviewed p.P168T 1.000 263 0% 160 35% - - benign(0.094) tolerated(0.09) neutral(0.303) NULL CYBB 1536 genome.wustl.edu 37 X 37663303 37663303 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000397.3 +1 reviewed p.I357 0.000 261 0% 132 36.4% - - - - - HMMPfam_FAD_binding_8,superfamily_Riboflavin synthase domain-like CYBB 1536 genome.wustl.edu 37 X 37668882 37668882 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000397.3 +1 reviewed p.K508N 1.000 383 0% 163 34.4% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_NAD_binding_6,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain CXorf27 25763 genome.wustl.edu 37 X 37850107 37850107 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012274.1 +1 validated p.K5N 0.000 294 0% 101 30.7% - - unknown(0) deleterious(0) - superfamily_Histone-fold SYTL5 94122 genome.wustl.edu 37 X 37961616 37961616 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138780.2 +1 reviewed p.E362* 0.992 287 0% 194 29.9% - - - - - NULL SYTL5 94122 genome.wustl.edu 37 X 37979659 37979659 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138780.2 +1 reviewed p.V549F 0.909 500 0% 251 35.9% - - possibly_damaging(0.941) deleterious(0) deleterious(0.831) superfamily_C2_CaLB SRPX 8406 genome.wustl.edu 37 X 38016186 38016186 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006307.4 -1 validated p.R351Q 1.000 199 0.5% 132 31.1% - - possibly_damaging(0.736) tolerated(0.07) deleterious(0.588) NULL RPGR 6103 genome.wustl.edu 37 X 38146199 38146199 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001034853.1 -1 reviewed p.E685* 0.030 1417 0% 794 34.8% - - - - - NULL BCOR 54880 genome.wustl.edu 37 X 39916551 39916551 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000427012 -1 known p.R179K 1.000 177 0% 119 32.8% - - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat BCOR 54880 genome.wustl.edu 37 X 39930238 39930238 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001123385.1 -1 reviewed p.E1076K 0.996 564 0% 287 28.2% - - benign(0.003) tolerated(0.37) neutral(0.019) NULL BCOR 54880 genome.wustl.edu 37 X 39931668 39931668 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001123385.1 -1 reviewed p.F977L 1.000 114 0% 100 41% - - possibly_damaging(0.88) deleterious(0) deleterious(0.788) NULL BCOR 54880 genome.wustl.edu 37 X 39932639 39932639 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001123385.1 -1 reviewed p.P654T 1.000 169 0% 98 32.7% - - benign(0.405) deleterious(0) deleterious(0.575) NULL ATP6AP2 10159 genome.wustl.edu 37 X 40464866 40464866 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005765.2 +1 reviewed p.S304 0.000 394 0.3% 209 39.2% - - - - - HMMPfam_Renin_r MED14 9282 genome.wustl.edu 37 X 40522196 40522196 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004229.3 -1 reviewed p.R1222I 1.000 264 0% 158 31.6% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL MED14 9282 genome.wustl.edu 37 X 40556309 40556309 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004229.3 -1 reviewed p.F539L 0.987 598 0% 287 29.3% - - possibly_damaging(0.843) deleterious(0.01) deleterious(0.729) NULL MED14 9282 genome.wustl.edu 37 X 40573155 40573155 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004229.3 -1 reviewed p.K176T 1.000 579 0% 345 41.4% - - benign(0.382) deleterious(0.01) deleterious(0.528) HMMPfam_MED14 USP9X 8239 genome.wustl.edu 37 X 41047318 41047318 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039590.2 +1 reviewed p.S1253L 0.735 357 0.3% 191 11.5% - - benign(0.001) tolerated(0.26) neutral(0.034) NULL USP9X 8239 genome.wustl.edu 37 X 41060377 41060377 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039590.2 +1 reviewed p.F1556 1.000 371 0% 269 39.8% - - - - - HMMPfam_UCH,superfamily_Cysteine proteinases CASK 8573 genome.wustl.edu 37 X 41519763 41519763 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003688.3 -1 reviewed p.R254C 1.000 379 0% 225 38.7% - - possibly_damaging(0.899) tolerated(0.1) deleterious(0.642) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MAOB 4129 genome.wustl.edu 37 X 43640732 43640732 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000898.4 -1 reviewed p.D330Y 1.000 139 0% 85 29.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain EFHC2 80258 genome.wustl.edu 37 X 44035607 44035607 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000333807 -1 known p.D658G 0.016 630 0% 310 36.1% - - probably_damaging(0.984) tolerated(0.09) deleterious(0.727) superfamily_EF-hand KDM6A 7403 genome.wustl.edu 37 X 44969346 44969346 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021140.2 +1 reviewed p.F1343C 1.000 294 0% 161 34.2% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL ZNF673 55634 genome.wustl.edu 37 X 46332264 46332264 + Silent SNP C C G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001129898.1 +1 validated p.G111 0.005 369 0% 185 30.8% - - - - - NULL ZNF674 641339 genome.wustl.edu 37 X 46359460 46359460 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039891.2 -1 validated p.E522* 1.000 498 0% 278 39.6% - - - - - superfamily_SSF57667 ZNF674 641339 genome.wustl.edu 37 X 46359642 46359642 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039891.2 -1 validated p.R461I 0.989 398 0% 204 34.8% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF674 641339 genome.wustl.edu 37 X 46360319 46360319 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039891.2 -1 validated p.Q235H 0.950 418 0% 222 32% - - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 RP2 6102 genome.wustl.edu 37 X 46719517 46719517 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006915.2 +1 reviewed p.F288C 0.999 344 0% 169 37.3% - - benign(0.212) tolerated(0.11) neutral(0.292) superfamily_NDK PHF16 9767 genome.wustl.edu 37 X 46857553 46857553 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077445.1 +1 reviewed p.K53T 1.000 249 0% 169 39.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_EPL1 PHF16 9767 genome.wustl.edu 37 X 46887353 46887353 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001077445.1 +1 reviewed p.C179R 1.000 425 0% 229 34.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RBM10 8241 genome.wustl.edu 37 X 47045663 47045663 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005676.3 +1 reviewed p.F848 1.000 97 0% 87 37.9% - - - - - NULL UBA1 7317 genome.wustl.edu 37 X 47062947 47062947 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003334.3 +1 reviewed p.A476V 1.000 378 0% 241 37.3% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_ThiF,superfamily_MoeB CDK16 5127 genome.wustl.edu 37 X 47086251 47086251 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033018.3 +1 reviewed p.P366S 1.000 144 0% 90 43.3% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase USP11 8237 genome.wustl.edu 37 X 47092372 47092372 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004651.3 +1 reviewed p.P20L 1.000 69 0% 47 48.9% - - possibly_damaging(0.931) - - NULL USP11 8237 genome.wustl.edu 37 X 47098872 47098872 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004651.3 +1 reviewed p.E180K 1.000 130 0% 88 34.1% - - probably_damaging(0.977) tolerated(0.13) deleterious(0.671) HMMSmart_DUSP,HMMPfam_DUF1055 USP11 8237 genome.wustl.edu 37 X 47101534 47101534 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004651.3 +1 reviewed p.I454 0.043 208 0% 144 38.2% - - - - - HMMPfam_UCH,superfamily_SSF54001 USP11 8237 genome.wustl.edu 37 X 47102117 47102117 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004651.3 +1 reviewed p.F570 1.000 401 0% 253 17.8% - - - - - HMMPfam_UCH,superfamily_SSF54001 USP11 8237 genome.wustl.edu 37 X 47104843 47104843 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004651.3 +1 reviewed p.L787 1.000 138 0% 80 36.2% - - - - - HMMPfam_UCH,superfamily_SSF54001 ZNF157 7712 genome.wustl.edu 37 X 47272249 47272249 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003446.3 +1 reviewed p.A259 0.986 240 0% 144 41% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 SYN1 6853 genome.wustl.edu 37 X 47466427 47466427 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006950.3 -1 reviewed p.F148L 1.000 570 0% 343 34.4% - - probably_damaging(0.987) tolerated(0.05) deleterious(0.782) HMMPfam_Synapsin,superfamily_PreATP-grasp domain CFP 5199 genome.wustl.edu 37 X 47487606 47487606 + Missense_Mutation SNP G G A rs132630259 TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145252.1 -1 reviewed p.R100W 1.000 75 0% 49 40.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 ZNF81 347344 genome.wustl.edu 37 X 47774500 47774500 + Missense_Mutation SNP G G A rs181393507 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007137.3 +1 reviewed p.R152H 0.000 125 0% 47 31.9% - - benign(0) tolerated(0.42) neutral(0.014) NULL ZNF81 347344 genome.wustl.edu 37 X 47775514 47775514 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007137.3 +1 reviewed p.R490I 1.000 172 0% 95 29.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF182 7569 genome.wustl.edu 37 X 47836221 47836221 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006962.1 -1 reviewed p.R422I 1.000 311 0% 190 36.8% - - probably_damaging(0.999) tolerated(0.13) deleterious(0.743) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF182 7569 genome.wustl.edu 37 X 47836305 47836305 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006962.1 -1 reviewed p.R394I 0.998 292 0% 192 34.4% - - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF182 7569 genome.wustl.edu 37 X 47847976 47847976 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006962.1 -1 reviewed p.S7Y 0.443 297 0% 177 13.6% - - possibly_damaging(0.578) - - NULL SSX5 6758 genome.wustl.edu 37 X 48054271 48054271 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021015.3 -1 reviewed p.K71T 0.082 807 0% 426 36.2% - - benign(0.002) tolerated(0.35) neutral(0.021) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) SSX4B 548313 genome.wustl.edu 37 X 48270215 48270215 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001034832.2 -1 reviewed p.N54K 0.254 1325 0% 699 14.6% - - benign(0.003) tolerated(0.26) neutral(0.034) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box PORCN 64840 genome.wustl.edu 37 X 48370823 48370823 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000470275 +1 known p.R166C 1.000 120 0% 107 39.3% - - - - - NULL TBC1D25 4943 genome.wustl.edu 37 X 48417562 48417562 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002536.2 +1 validated p.S178Y 1.000 184 0% 132 37.1% - - possibly_damaging(0.449) deleterious(0) deleterious(0.592) NULL RBM3 5935 genome.wustl.edu 37 X 48433958 48433958 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006743.3 +1 reviewed p.V38G 1.000 159 0% 109 33% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 WAS 7454 genome.wustl.edu 37 X 48546788 48546788 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000377.2 +1 reviewed p.F293L 1.000 127 0% 76 34.2% - - possibly_damaging(0.837) tolerated(0.09) deleterious(0.616) HMMPfam_PBD,superfamily_WASP_C ENSG00000207367 0 genome.wustl.edu 37 X 48635476 48635476 + RNA SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000384637 -1 novel NULL 0.039 43 0% 73 26% - - - - - - GATA1 2623 genome.wustl.edu 37 X 48651632 48651632 + Silent SNP G G A rs184692721 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000447551 +1 known p.R31Q 0.298 184 0% 123 26% - - - - - HMMPfam_GATA,HMMSmart_SM00401,PatternScan_GATA_ZN_FINGER_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) HDAC6 10013 genome.wustl.edu 37 X 48672939 48672939 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006044.2 +1 reviewed p.G300D 0.882 346 0% 181 30.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hist_deacetyl,superfamily_SSF52768 HDAC6 10013 genome.wustl.edu 37 X 48681858 48681858 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006044.2 +1 reviewed p.E1017K 0.001 48 0% 39 51.3% - - benign(0.001) deleterious(0.03) neutral(0.364) NULL ERAS 3266 genome.wustl.edu 37 X 48688095 48688095 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181532.2 +1 provisional p.V188M 1.000 85 0% 54 40.7% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_RAS,HMMPfam_Ras,superfamily_SSF52540 PQBP1 10084 genome.wustl.edu 37 X 48755850 48755850 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001032381.1 +1 reviewed p.L20M 0.978 279 0% 222 36% - - benign(0.013) tolerated(0.15) neutral(0.241) NULL CCDC120 90060 genome.wustl.edu 37 X 48919624 48919624 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000422185 +1 known p.D18Y 0.069 38 0% 30 40% - - - - - NULL CCDC120 90060 genome.wustl.edu 37 X 48921977 48921977 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033626.2 +1 reviewed p.L134S 0.853 12 0% 10 40% - - probably_damaging(0.999) tolerated(0.76) deleterious(0.491) NULL PRAF2 11230 genome.wustl.edu 37 X 48929606 48929606 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007213.1 -1 provisional p.I153 0.212 175 0% 100 33% - - - - - HMMPfam_PRA1 PLP2 5355 genome.wustl.edu 37 X 49028358 49028358 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002668.2 +1 reviewed p.S4Y 0.004 54 0% 61 37.7% - - benign(0.267) deleterious(0.01) neutral(0.434) NULL PLP2 5355 genome.wustl.edu 37 X 49030742 49030742 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002668.2 +1 reviewed p.R136W 0.024 251 0% 206 38.8% - - probably_damaging(0.986) deleterious(0.02) deleterious(0.818) HMMPfam_MARVEL PRICKLE3 4007 genome.wustl.edu 37 X 49032031 49032031 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000453382 -1 known p.R626C 0.712 75 0% 48 35.4% - - - - - NULL CACNA1F 778 genome.wustl.edu 37 X 49087767 49087767 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005183.2 -1 reviewed p.P93L 1.000 167 0% 100 34% - - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) superfamily_Voltage-gated potassium channels CCDC22 28952 genome.wustl.edu 37 X 49104879 49104879 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014008.3 +1 validated p.E408D 1.000 65 0% 41 41.5% - - benign(0.197) tolerated(0.73) neutral(0.020) HMMPfam_DUF812 AKAP4 8852 genome.wustl.edu 37 X 49957876 49957876 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003886.2 -1 reviewed p.V496 0.672 392 0% 213 34.3% - - - - - HMMPfam_AKAP_110,HMMSmart_SM00807 AKAP4 8852 genome.wustl.edu 37 X 49958036 49958036 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003886.2 -1 reviewed p.S443Y 0.854 204 0.5% 107 29.9% - - possibly_damaging(0.688) deleterious(0) deleterious(0.691) HMMPfam_AKAP_110,HMMSmart_SM00807 CCNB3 85417 genome.wustl.edu 37 X 50052215 50052215 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033031.2 +1 reviewed p.S349* 0.001 212 0.5% 96 27.1% - - - - - NULL CCNB3 85417 genome.wustl.edu 37 X 50052782 50052782 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033031.2 +1 reviewed p.T538I 0.000 91 0% 49 32.7% - - possibly_damaging(0.85) deleterious(0) deleterious(0.772) NULL CCNB3 85417 genome.wustl.edu 37 X 50053291 50053291 + Nonsense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033031.2 +1 reviewed p.K708* 0.000 102 0% 34 26.5% - - - - - NULL CCNB3 85417 genome.wustl.edu 37 X 50054274 50054274 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033031.2 +1 reviewed p.E1035D 0.000 300 0% 165 35.8% - - benign(0.226) deleterious(0) neutral(0.467) NULL DGKK 139189 genome.wustl.edu 37 X 50118057 50118057 + Splice_Site SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000376025 -1 known NULL 0.997 332 0% 187 33.2% - - - - - - DGKK 139189 genome.wustl.edu 37 X 50127716 50127716 + Splice_Site SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000376025 -1 known NULL 0.995 437 0% 214 41.1% - - - - - - SHROOM4 57477 genome.wustl.edu 37 X 50351088 50351088 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020717.3 -1 reviewed p.I1018 0.226 174 0% 79 38% - - - - - NULL SHROOM4 57477 genome.wustl.edu 37 X 50376329 50376329 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020717.3 -1 reviewed p.R915I 1.000 280 0% 173 36.4% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL SHROOM4 57477 genome.wustl.edu 37 X 50377155 50377155 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020717.3 -1 reviewed p.L640 0.689 299 0% 174 29.9% - - - - - NULL SHROOM4 57477 genome.wustl.edu 37 X 50377847 50377847 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020717.3 -1 reviewed p.R409H 1.000 113 0% 71 29.6% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL SHROOM4 57477 genome.wustl.edu 37 X 50378021 50378021 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020717.3 -1 reviewed p.S351N 0.011 124 0% 48 31.2% - - benign(0) tolerated(0.06) neutral(0.323) NULL SHROOM4 57477 genome.wustl.edu 37 X 50438805 50438805 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020717.3 -1 reviewed p.L84I 1.000 198 0% 125 37.6% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMSmart_SM00228,superfamily_PDZ domain-like CXorf67 340602 genome.wustl.edu 37 X 51150190 51150190 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000342995 +1 known p.E108K 0.000 51 2% 43 41.9% - - benign(0.226) tolerated(0.32) neutral(0.046) NULL GSPT2 23708 genome.wustl.edu 37 X 51488025 51488025 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018094.4 +1 reviewed p.I435L 1.000 286 0% 153 36.6% - - benign(0.001) tolerated(0.06) neutral(0.323) superfamily_Translat_factor,superfamily_SSF52540 MAGED1 9500 genome.wustl.edu 37 X 51638385 51638385 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005333.1 +1 reviewed p.F150 1.000 119 0% 49 34.7% - - - - - NULL MAGED1 9500 genome.wustl.edu 37 X 51638467 51638467 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001005333.1 +1 reviewed p.P178S 0.936 111 0% 79 31.6% - - benign(0.189) tolerated(0.07) neutral(0.337) NULL GPR173 54328 genome.wustl.edu 37 X 53106844 53106844 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018969.5 +1 reviewed p.L347 1.000 76 0% 68 23.5% - - - - - superfamily_Family A G protein-coupled receptor-like TSPYL2 64061 genome.wustl.edu 37 X 53115071 53115071 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022117.3 +1 reviewed p.A499 0.001 793 0% 358 25.4% - - - - - NULL TSPYL2 64061 genome.wustl.edu 37 X 53115193 53115193 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022117.3 +1 reviewed p.G540D 0.038 854 0% 464 36.2% - - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL TSPYL2 64061 genome.wustl.edu 37 X 53115434 53115434 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022117.3 +1 reviewed p.Y620 0.004 352 0% 191 25.1% - - - - - NULL HSD17B10 3028 genome.wustl.edu 37 X 53458945 53458945 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004493.2 -1 reviewed p.F159 1.000 224 0.4% 171 28.1% - - - - - HMMPfam_adh_short,PatternScan_ADH_SHORT,superfamily_NAD(P)-binding Rossmann-fold domains HSD17B10 3028 genome.wustl.edu 37 X 53460712 53460712 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004493.2 -1 reviewed p.Q50R 0.874 88 0% 55 36.4% - - benign(0.01) tolerated(0.05) neutral(0.346) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains HUWE1 10075 genome.wustl.edu 37 X 53563516 53563516 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031407.4 -1 reviewed p.S4084P 1.000 495 0.2% 265 41.1% - - unknown(0) deleterious(0.01) - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HUWE1 10075 genome.wustl.edu 37 X 53566739 53566739 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000427052 -1 known p.G2871* 0.995 212 0% 117 38.5% - - unknown(0) tolerated(0.45) - NULL HUWE1 10075 genome.wustl.edu 37 X 53575177 53575177 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031407.4 -1 reviewed p.R3365W 1.000 129 0% 70 40% - - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL HUWE1 10075 genome.wustl.edu 37 X 53607796 53607796 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031407.4 -1 reviewed p.G1904E 1.000 86 0% 37 29.7% - - probably_damaging(0.978) deleterious(0.02) deleterious(0.803) superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53610781 53610781 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031407.4 -1 reviewed p.D1753Y 1.000 167 0% 106 33% - - possibly_damaging(0.852) deleterious(0.02) deleterious(0.711) superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53613850 53613850 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031407.4 -1 reviewed p.A1545V 1.000 191 0% 95 31.6% - - probably_damaging(0.998) tolerated(0.54) deleterious(0.482) superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53615366 53615366 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000427052 -1 known p.L564I 0.997 260 0% 155 33.5% - - - - - superfamily_ARM repeat LOC100288560 100288560 genome.wustl.edu 37 X 53852560 53852560 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002344197.1 +1 model p.S60Y 0.332 199 0% 117 39.3% - - - - - superfamily_Ribosomal protein S18 PHF8 23133 genome.wustl.edu 37 X 54011425 54011425 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015107.2 -1 reviewed p.E789K 0.990 223 0% 178 29.8% - - possibly_damaging(0.481) tolerated(0.72) neutral(0.161) NULL WNK3 65267 genome.wustl.edu 37 X 54224972 54224972 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020922.4 -1 reviewed p.P1730S 0.996 281 0% 121 35.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL WNK3 65267 genome.wustl.edu 37 X 54228503 54228503 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020922.4 -1 reviewed p.S1665Y 0.974 713 0% 403 35.7% - - benign(0.273) deleterious(0.04) neutral(0.378) NULL WNK3 65267 genome.wustl.edu 37 X 54335670 54335670 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020922.4 -1 reviewed p.F263L 1.000 229 0% 145 27.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ITIH6 347365 genome.wustl.edu 37 X 54784245 54784245 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198510.2 -1 reviewed p.T754 0.042 486 0.2% 302 39.4% - - - - - NULL ITIH6 347365 genome.wustl.edu 37 X 54800549 54800549 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198510.2 -1 reviewed p.V290I 0.031 268 0% 125 11.2% - - possibly_damaging(0.68) tolerated(0.38) neutral(0.260) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 ITIH6 347365 genome.wustl.edu 37 X 54818408 54818408 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198510.2 -1 reviewed p.Y107D 1.000 1027 0% 561 11.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_VIT,HMMPfam_VIT TRO 7216 genome.wustl.edu 37 X 54952860 54952860 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039705.1 +1 reviewed p.K532R 0.987 551 0% 357 38.7% - - possibly_damaging(0.917) tolerated(0.13) deleterious(0.621) HMMPfam_MAGE TRO 7216 genome.wustl.edu 37 X 54956457 54956457 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039705.1 +1 reviewed p.G1100 0.000 63 0% 64 37.5% - - - - - NULL TRO 7216 genome.wustl.edu 37 X 54957706 54957706 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016157.2 +1 reviewed p.P686T 0.824 749 0.3% 387 37.5% - - probably_damaging(0.976) deleterious(0.01) deleterious(0.824) NULL APEX2 27301 genome.wustl.edu 37 X 55028007 55028007 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014481.2 +1 reviewed p.I62 0.460 137 0% 74 33.8% - - - - - HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos ALAS2 212 genome.wustl.edu 37 X 55041376 55041376 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000032.4 -1 reviewed p.A414D 1.000 165 0% 78 43.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases FOXR2 139628 genome.wustl.edu 37 X 55650672 55650672 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198451.3 +1 validated p.Q176 0.073 190 0% 93 36.6% - - - - - NULL ASB12 142689 genome.wustl.edu 37 X 63444983 63444983 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_130388.2 -1 reviewed p.G174D 1.000 157 0% 104 33.7% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_ANK,superfamily_ANK MTMR8 55613 genome.wustl.edu 37 X 63574667 63574667 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017677.3 -1 reviewed p.R153I 0.998 549 0% 231 42.9% - - unknown(0) tolerated(0.1) - superfamily_(Phosphotyrosine protein) phosphatases II ZC4H2 55906 genome.wustl.edu 37 X 64139980 64139980 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018684.2 -1 validated p.E127* 1.000 231 0% 174 38.5% - - - - - HMMPfam_zf-C4H2 LAS1L 81887 genome.wustl.edu 37 X 64738072 64738072 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031206.4 -1 validated p.V574 0.000 614 0% 297 23.6% - - - - - NULL LAS1L 81887 genome.wustl.edu 37 X 64738300 64738300 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031206.4 -1 validated p.E498D 1.000 116 0% 87 32.2% - - probably_damaging(0.99) tolerated(0.05) deleterious(0.787) NULL MSN 4478 genome.wustl.edu 37 X 64955178 64955178 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002444.2 +1 reviewed p.A282V 1.000 280 0% 189 36% - - possibly_damaging(0.502) deleterious(0.04) deleterious(0.516) HMMPfam_FERM_C,superfamily_SSF50729 LOC100288788 100288788 genome.wustl.edu 37 X 65176715 65176715 + Silent SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343822.1 -1 model p.V108 0.981 264 0% 197 10.2% - - - - - superfamily_RNA-binding domain RBD HEPH 9843 genome.wustl.edu 37 X 65423221 65423221 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138737.3 +1 reviewed p.Y701F 1.000 144 0% 83 24.1% - - benign(0.017) tolerated(0.7) neutral(0.003) PatternScan_MULTICOPPER_OXIDASE1,superfamily_Cupredoxins HEPH 9843 genome.wustl.edu 37 X 65423311 65423311 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138737.3 +1 reviewed p.R731H 0.003 245 0% 140 38.6% - - benign(0.002) tolerated(0.56) neutral(0.006) superfamily_Cupredoxins HEPH 9843 genome.wustl.edu 37 X 65486459 65486459 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138737.3 +1 reviewed p.R1144H 0.985 541 0% 326 16% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL OPHN1 4983 genome.wustl.edu 37 X 67518843 67518843 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002547.2 -1 reviewed p.A84T 1.000 325 0% 154 28.6% - - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) NULL YIPF6 286451 genome.wustl.edu 37 X 67731803 67731803 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173834.2 +1 provisional p.S57Y 1.000 408 0% 237 31.6% - - probably_damaging(0.96) deleterious(0) deleterious(0.848) NULL YIPF6 286451 genome.wustl.edu 37 X 67741237 67741237 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173834.2 +1 provisional p.D111G 1.000 569 0% 314 40.1% - - benign(0.008) deleterious(0.03) neutral(0.364) HMMPfam_Yip1 STARD8 9754 genome.wustl.edu 37 X 67944177 67944177 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142503.2 +1 reviewed p.V1075 0.919 149 0% 71 36.6% - - - - - HMMPfam_START,HMMSmart_SM00234,superfamily_Bet v1-like AWAT1 158833 genome.wustl.edu 37 X 69459693 69459693 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013579.2 +1 reviewed p.I247 0.000 445 0% 281 33.5% - - - - - HMMPfam_DAGAT AWAT1 158833 genome.wustl.edu 37 X 69460116 69460116 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013579.2 +1 reviewed p.E321 0.995 232 0% 198 35.9% - - - - - HMMPfam_DAGAT P2RY4 5030 genome.wustl.edu 37 X 69479051 69479051 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002565.3 -1 reviewed p.R142W 0.523 133 0.8% 93 50.5% - - possibly_damaging(0.884) deleterious(0.01) deleterious(0.750) HMMPfam_7tm_1,superfamily_SSF81321 ARR3 407 genome.wustl.edu 37 X 69500419 69500419 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004312.2 +1 validated p.D334Y 0.997 668 0% 287 31% - - possibly_damaging(0.939) deleterious(0) deleterious(0.829) HMMPfam_Arrestin_C,superfamily_E set domains PDZD11 51248 genome.wustl.edu 37 X 69507147 69507147 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016484.4 -1 validated p.R123C 1.000 249 0% 136 43.4% - - probably_damaging(0.968) deleterious(0.05) deleterious(0.755) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like KIF4A 24137 genome.wustl.edu 37 X 69510560 69510560 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012310.4 +1 reviewed p.K47R 1.000 498 0% 290 32.4% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF4A 24137 genome.wustl.edu 37 X 69594013 69594013 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012310.4 +1 reviewed p.E563* 0.986 211 0% 98 29.6% - - - - - NULL KIF4A 24137 genome.wustl.edu 37 X 69640060 69640060 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012310.4 +1 reviewed p.A1215V 0.998 265 0.8% 109 12.8% - - benign(0.15) tolerated(0.15) neutral(0.254) NULL DLG3 1741 genome.wustl.edu 37 X 69668801 69668801 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021120.3 +1 reviewed p.I132 0.991 359 0% 162 27.2% - - - - - HMMPfam_PDZ,superfamily_PDZ domain-like SLC7A3 84889 genome.wustl.edu 37 X 70148013 70148013 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001048164.2 -1 reviewed p.D268N 1.000 247 0% 113 45.1% - - possibly_damaging(0.941) deleterious(0) deleterious(0.831) HMMPfam_AA_permease SNX12 29934 genome.wustl.edu 37 X 70281730 70281730 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_013346.2 -1 reviewed p.E117K 1.000 110 0% 57 47.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain FOXO4 4303 genome.wustl.edu 37 X 70316565 70316565 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005938.3 +1 reviewed p.R63C 0.965 45 0% 19 31.6% - - possibly_damaging(0.462) tolerated(0.05) deleterious(0.497) HMMPfam_Fork_head MED12 9968 genome.wustl.edu 37 X 70339568 70339568 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005120.2 +1 reviewed p.E79D 1.000 188 0% 149 30.2% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL MED12 9968 genome.wustl.edu 37 X 70339677 70339677 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005120.2 +1 reviewed p.W116R 1.000 112 0% 114 37.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Med12 MED12 9968 genome.wustl.edu 37 X 70344691 70344691 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005120.2 +1 reviewed p.F684L 1.000 362 0% 222 32.4% - - benign(0.022) tolerated(0.66) neutral(0.004) NULL NLGN3 54413 genome.wustl.edu 37 X 70367986 70367986 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018977.3 +1 reviewed p.I129 0.997 92 0% 75 38.7% - - - - - HMMPfam_COesterase,superfamily_SSF53474 NLGN3 54413 genome.wustl.edu 37 X 70375198 70375198 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018977.3 +1 reviewed p.R218W 1.000 350 0% 206 33% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_COesterase,superfamily_SSF53474 NLGN3 54413 genome.wustl.edu 37 X 70389395 70389395 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018977.3 +1 reviewed p.K645N 1.000 161 0% 110 29.1% - - benign(0.004) tolerated(0.16) neutral(0.059) NULL ZMYM3 9203 genome.wustl.edu 37 X 70464302 70464302 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005096.3 -1 reviewed p.L1044F 0.988 132 0% 112 30.4% - - possibly_damaging(0.817) tolerated(0.38) neutral(0.327) NULL NONO 4841 genome.wustl.edu 37 X 70514253 70514253 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000418921 +1 known p.R37K 1.000 453 0% 246 36.6% - - - - - superfamily_RNA-binding domain RBD TAF1 6872 genome.wustl.edu 37 X 70603855 70603855 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004606.3 +1 reviewed p.F684C 1.000 628 0% 329 36.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL OGT 8473 genome.wustl.edu 37 X 70787407 70787407 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_181672.2 +1 reviewed p.E883* 1.000 288 0% 211 38.4% - - - - - NULL ACRC 93953 genome.wustl.edu 37 X 70823852 70823852 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052957.4 +1 validated p.S242L 0.010 459 0% 243 32.9% - - unknown(0) deleterious(0.03) - NULL CXCR3 2833 genome.wustl.edu 37 X 70836766 70836766 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001504.1 -1 reviewed p.D186N 0.780 106 0% 52 28.8% - - probably_damaging(0.958) deleterious(0.01) deleterious(0.807) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RGAG4 340526 genome.wustl.edu 37 X 71350235 71350235 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001024455.3 -1 validated p.E386* 0.093 592 0.2% 367 28.1% - - - - - NULL RGAG4 340526 genome.wustl.edu 37 X 71350800 71350800 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001024455.3 -1 validated p.G197 0.000 79 0% 38 44.7% - - - - - HMMPfam_Retrotrans_gag NHSL2 340527 genome.wustl.edu 37 X 71359136 71359136 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001013627.2 +1 provisional p.D214N 1.000 134 0% 116 28.4% - - probably_damaging(0.99) tolerated(0.55) neutral(0.449) NULL NAP1L2 4674 genome.wustl.edu 37 X 72433307 72433307 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021963.2 -1 reviewed p.V341A 1.000 165 0% 81 30.9% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_NAP CDX4 1046 genome.wustl.edu 37 X 72667271 72667271 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005193.1 +1 provisional p.S61I 0.990 89 0% 64 43.8% - - benign(0.045) tolerated(0.17) neutral(0.061) HMMPfam_Caudal_act JPX 554203 genome.wustl.edu 37 X 73289704 73289704 + RNA SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_024582.1 +1 validated NULL 1.000 41 0% 40 47.5% - - - - - - BMP2KL 347359 genome.wustl.edu 37 X 73406355 73406355 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000373488 +1 known p.E201K 0.999 85 0% 47 34% - - possibly_damaging(0.903) deleterious(0) deleterious(0.802) NULL ZCCHC13 389874 genome.wustl.edu 37 X 73524329 73524329 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_203303.2 +1 reviewed p.I76 0.993 166 0% 109 41.3% - - - - - HMMPfam_zf-CCHC,HMMSmart_ZnF_C2HC,superfamily_SSF57756 SLC16A2 6567 genome.wustl.edu 37 X 73751177 73751177 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006517.3 +1 reviewed p.R544H 0.577 316 0.3% 151 32.5% - - benign(0.071) tolerated(0.53) neutral(0.013) superfamily_MFS_gen_substrate_transporter RLIM 51132 genome.wustl.edu 37 X 73811358 73811358 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016120.3 -1 reviewed p.D598N 1.000 372 0.3% 212 33.5% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box RLIM 51132 genome.wustl.edu 37 X 73811613 73811613 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016120.3 -1 reviewed p.R513* 1.000 210 0% 140 33.6% - - - - - NULL KIAA2022 340533 genome.wustl.edu 37 X 73960895 73960895 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008537.2 -1 validated p.I1166S 0.984 352 0% 232 39.7% - - benign(0.006) deleterious(0) neutral(0.445) NULL KIAA2022 340533 genome.wustl.edu 37 X 73963606 73963606 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001008537.2 -1 validated p.E262D 1.000 259 0% 144 42.4% - - benign(0.253) deleterious(0) deleterious(0.471) NULL ABCB7 22 genome.wustl.edu 37 X 74293595 74293595 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004299.3 -1 reviewed p.E322* 1.000 554 0.2% 296 31.8% - - - - - HMMPfam_ABC_membrane,superfamily_ABC_TM_1 UPRT 139596 genome.wustl.edu 37 X 74494186 74494186 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145052.3 +1 reviewed p.D33N 0.028 158 0% 78 16.7% - - benign(0.135) deleterious(0) neutral(0.456) NULL MAGEE2 139599 genome.wustl.edu 37 X 75003491 75003491 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138703.4 -1 validated p.L466I 0.228 258 0% 127 18.1% - - possibly_damaging(0.585) tolerated(0.15) neutral(0.443) HMMPfam_MAGE MAGEE2 139599 genome.wustl.edu 37 X 75003815 75003815 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138703.4 -1 validated p.L358I 0.984 163 0% 78 37.2% - - probably_damaging(0.955) tolerated(0.39) neutral(0.415) HMMPfam_MAGE MAGEE2 139599 genome.wustl.edu 37 X 75004186 75004186 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138703.4 -1 validated p.R234Q 0.001 136 0% 82 40.2% - - benign(0.124) deleterious(0.01) neutral(0.416) HMMPfam_MAGE MAGEE2 139599 genome.wustl.edu 37 X 75004277 75004277 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138703.4 -1 validated p.L204 0.000 79 0% 51 29.4% - - - - - HMMPfam_MAGE ATRX 546 genome.wustl.edu 37 X 76814238 76814238 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000489.3 -1 reviewed p.D2136N 1.000 225 0% 101 35.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases ATRX 546 genome.wustl.edu 37 X 76845384 76845384 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000489.3 -1 reviewed p.S2046Y 1.000 173 0% 84 35.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_P-loop containing nucleoside triphosphate hydrolases ATRX 546 genome.wustl.edu 37 X 76938687 76938687 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000489.3 -1 reviewed p.E687 0.972 328 0% 159 43.4% - - - - - NULL ATP7A 538 genome.wustl.edu 37 X 77245218 77245218 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000052.4 +1 reviewed p.P367H 0.014 225 0% 160 39.4% - - benign(0.002) deleterious(0.01) neutral(0.406) NULL ATP7A 538 genome.wustl.edu 37 X 77267070 77267070 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000052.4 +1 reviewed p.E691* 1.000 648 0% 306 17.6% - - - - - NULL ATP7A 538 genome.wustl.edu 37 X 77270198 77270198 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000052.4 +1 reviewed p.Q816K 1.000 281 0% 126 27% - - probably_damaging(1) tolerated(0.64) deleterious(0.503) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M ATP7A 538 genome.wustl.edu 37 X 77284774 77284774 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000052.4 +1 reviewed p.E982K 1.000 283 0% 170 31.2% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M ZCCHC5 203430 genome.wustl.edu 37 X 77913660 77913660 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152694.2 -1 reviewed p.Q86H 0.000 109 0% 82 30.5% - - benign(0) tolerated(0.28) neutral(0.032) NULL LPAR4 2846 genome.wustl.edu 37 X 78010480 78010480 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005296.2 +1 reviewed p.K38N 1.000 702 0% 310 32.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Family A G protein-coupled receptor-like P2RY10 27334 genome.wustl.edu 37 X 78216162 78216162 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014499.2 +1 reviewed p.L49I 1.000 381 0% 205 35.1% - - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) superfamily_SSF81321 GPR174 84636 genome.wustl.edu 37 X 78426862 78426862 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032553.1 +1 validated p.L120I 1.000 345 0% 256 37.5% - - benign(0.155) tolerated(0.77) neutral(0.014) HMMPfam_7tm_1,superfamily_SSF81321 ITM2A 9452 genome.wustl.edu 37 X 78616670 78616670 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004867.4 -1 reviewed p.F236L 1.000 188 0% 74 45.9% - - benign(0.001) tolerated(0.38) neutral(0.018) NULL TBX22 50945 genome.wustl.edu 37 X 79286196 79286196 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001109878.1 +1 reviewed p.Q383 0.421 568 0% 303 34.7% - - - - - NULL TBX22 50945 genome.wustl.edu 37 X 79286363 79286363 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001109878.1 +1 reviewed p.S439Y 0.216 410 0% 224 11.2% - - possibly_damaging(0.915) deleterious(0.01) deleterious(0.772) NULL TBX22 50945 genome.wustl.edu 37 X 79286546 79286546 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001109878.1 +1 reviewed p.V500A 0.193 196 0% 106 31.1% - - benign(0.001) tolerated(0.52) neutral(0.009) NULL FAM46D 169966 genome.wustl.edu 37 X 79699204 79699204 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_152630.4 +1 validated p.S389I 0.774 118 0% 70 24.3% - - benign(0.016) - - NULL BRWD3 254065 genome.wustl.edu 37 X 79932716 79932716 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153252.4 -1 reviewed p.L1601V 0.998 416 0% 257 35% - - benign(0.362) deleterious(0) deleterious(0.559) NULL BRWD3 254065 genome.wustl.edu 37 X 79975093 79975093 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153252.4 -1 reviewed p.L647I 1.000 672 0% 366 36.1% - - probably_damaging(1) tolerated(0.19) deleterious(0.549) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase BRWD3 254065 genome.wustl.edu 37 X 79984261 79984261 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153252.4 -1 reviewed p.H459R 1.000 137 0% 60 28.3% - - probably_damaging(0.999) tolerated(0.28) deleterious(0.522) HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMPfam_WD40 SH3BGRL 6451 genome.wustl.edu 37 X 80532486 80532486 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003022.2 +1 validated p.K17Q 1.000 181 0% 69 31.9% - - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_SH3BGR,superfamily_Thioredoxin-like POU3F4 5456 genome.wustl.edu 37 X 82763491 82763491 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000307.3 +1 reviewed p.L53 0.980 75 0% 37 27% - - - - - NULL POU3F4 5456 genome.wustl.edu 37 X 82763946 82763946 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000307.3 +1 reviewed p.R205I 1.000 82 0% 45 26.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pou,HMMSmart_POU,PatternScan_POU_1,superfamily_Lambda_like_DNA CYLC1 1538 genome.wustl.edu 37 X 83128586 83128586 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021118.1 +1 provisional p.K290N 0.092 99 0% 29 31% - - unknown(0) tolerated(0.16) - NULL SATL1 340562 genome.wustl.edu 37 X 84362715 84362715 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012980.2 -1 validated p.G233 0.000 878 0.1% 623 34.8% - - - - - NULL SATL1 340562 genome.wustl.edu 37 X 84363934 84363934 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000509231 -1 known p.S14L 0.000 850 0.1% 510 15.3% - - benign(0.119) tolerated(1) neutral(0.009) NULL ZNF711 7552 genome.wustl.edu 37 X 84525770 84525770 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021998.4 +1 reviewed p.H408Y 1.000 120 0% 50 34% - - possibly_damaging(0.95) tolerated(0.15) deleterious(0.635) superfamily_C2H2 and C2HC zinc fingers ZNF711 7552 genome.wustl.edu 37 X 84525896 84525896 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021998.4 +1 reviewed p.E450* 1.000 385 0% 142 31% - - - - - NULL ZNF711 7552 genome.wustl.edu 37 X 84526091 84526091 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021998.4 +1 reviewed p.R515* 1.000 231 0% 125 35.2% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers POF1B 79983 genome.wustl.edu 37 X 84561224 84561224 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024921.3 -1 reviewed p.R427H 0.017 489 0% 229 30.6% - - possibly_damaging(0.945) tolerated(0.13) deleterious(0.642) NULL POF1B 79983 genome.wustl.edu 37 X 84614574 84614574 + Missense_Mutation SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024921.3 -1 reviewed p.V140E 0.946 616 0% 295 36.3% - - benign(0.099) deleterious(0) neutral(0.452) NULL POF1B 79983 genome.wustl.edu 37 X 84622695 84622695 + Splice_Site SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024921.3 -1 reviewed e2+2 0.999 527 0% 265 13.6% - - - - - - CHM 1121 genome.wustl.edu 37 X 85166276 85166276 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000390.2 -1 reviewed p.E412* 1.000 192 0% 72 36.1% - - - - - HMMPfam_GDI,superfamily_SSF51905 CHM 1121 genome.wustl.edu 37 X 85218920 85218920 + Missense_Mutation SNP C C G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000390.2 -1 reviewed p.C151S 0.011 405 0% 213 42.3% - - benign(0) tolerated(0.75) neutral(0.002) HMMPfam_GDI,superfamily_SSF51905 CHM 1121 genome.wustl.edu 37 X 85282494 85282494 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000390.2 -1 reviewed e2+1 1.000 179 0% 78 37.2% - - - - - - DACH2 117154 genome.wustl.edu 37 X 85403960 85403960 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_053281.3 +1 reviewed p.K112 1.000 178 0% 111 34.2% - - - - - HMMPfam_Ski_Sno,superfamily_Putative DNA-binding domain DACH2 117154 genome.wustl.edu 37 X 85906106 85906106 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_053281.3 +1 reviewed p.T236 0.999 232 0% 125 33.6% - - - - - NULL DACH2 117154 genome.wustl.edu 37 X 86067986 86067986 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_053281.3 +1 reviewed p.E456 1.000 150 0% 80 36.2% - - - - - NULL KLHL4 56062 genome.wustl.edu 37 X 86772973 86772973 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_057162.2 +1 reviewed p.F26C 1.000 197 0% 111 38.7% - - benign(0.116) deleterious(0.03) neutral(0.373) NULL KLHL4 56062 genome.wustl.edu 37 X 86772978 86772978 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_057162.2 +1 reviewed p.G28C 1.000 194 0% 115 35.7% - - possibly_damaging(0.823) deleterious(0.01) deleterious(0.717) NULL KLHL4 56062 genome.wustl.edu 37 X 86887341 86887341 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_057162.2 +1 reviewed p.G486S 1.000 447 0% 217 41.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain CPXCR1 53336 genome.wustl.edu 37 X 88009229 88009229 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033048.5 +1 validated p.N272H 0.000 134 0% 67 14.9% - - probably_damaging(0.981) deleterious(0.03) deleterious(0.790) NULL TGIF2LX 90316 genome.wustl.edu 37 X 89177195 89177195 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138960.3 +1 reviewed p.N37 0.001 314 0% 140 12.1% - - - - - NULL PCDH11X 27328 genome.wustl.edu 37 X 91090729 91090729 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032968.3 +1 reviewed p.R76* 0.593 726 0% 432 37.7% - - - - - HMMPfam_Cadherin_2 PCDH11X 27328 genome.wustl.edu 37 X 91132645 91132645 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032968.3 +1 reviewed p.S469Y 0.998 209 0% 127 37% - - possibly_damaging(0.816) deleterious(0) deleterious(0.753) superfamily_Cadherin-like PCDH11X 27328 genome.wustl.edu 37 X 91873471 91873471 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032968.3 +1 reviewed p.T1192 0.012 666 0% 454 12.1% - - - - - NULL NAP1L3 4675 genome.wustl.edu 37 X 92928249 92928249 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004538.4 -1 reviewed p.E19K 0.920 75 0% 40 50% - - possibly_damaging(0.806) deleterious(0.01) deleterious(0.709) NULL DIAPH2 1730 genome.wustl.edu 37 X 95993627 95993627 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006729.4 +1 reviewed p.E70* 1.000 136 0% 61 23% - - - - - NULL DIAPH2 1730 genome.wustl.edu 37 X 95993634 95993634 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006729.4 +1 reviewed p.P72L 0.998 148 0% 65 43.1% - - unknown(0) deleterious(0) - NULL DIAPH2 1730 genome.wustl.edu 37 X 96185769 96185769 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006729.4 +1 reviewed p.S339Y 1.000 402 0.2% 172 35.5% - - unknown(0) deleterious(0.01) - HMMPfam_Drf_FH3 DIAPH2 1730 genome.wustl.edu 37 X 96192343 96192343 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006729.4 +1 reviewed p.E401* 1.000 191 0% 92 47.8% - - - - - HMMPfam_Drf_FH3 DIAPH2 1730 genome.wustl.edu 37 X 96220104 96220104 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006729.4 +1 reviewed p.E650* 1.000 244 0% 63 30.2% - - - - - HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) PCDH19 57526 genome.wustl.edu 37 X 99551338 99551338 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105243.1 -1 reviewed p.I1081M 0.998 263 0% 131 29.8% - - benign(0.011) deleterious(0.03) neutral(0.365) NULL PCDH19 57526 genome.wustl.edu 37 X 99661660 99661660 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001105243.1 -1 reviewed p.D646N 1.000 212 0% 107 31.8% - - probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin TNMD 64102 genome.wustl.edu 37 X 99854571 99854571 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022144.2 +1 reviewed p.R271* 1.000 200 0% 152 35.5% - - - - - NULL SYTL4 94121 genome.wustl.edu 37 X 99931106 99931106 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001129896.2 -1 reviewed p.K645N 1.000 244 0% 186 35.5% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL SYTL4 94121 genome.wustl.edu 37 X 99956979 99956979 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001129896.2 -1 reviewed p.L19I 0.999 440 0% 255 42.4% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_RPH3A_effector,superfamily_FYVE/PHD zinc finger CSTF2 1478 genome.wustl.edu 37 X 100075618 100075618 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000413437 +1 known p.E4 0.004 71 0% 67 28.4% - - - - - NULL NOX1 27035 genome.wustl.edu 37 X 100098952 100098952 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007052.4 -1 reviewed p.E562* 1.000 273 0% 150 26.7% - - - - - NULL ARL13A 392509 genome.wustl.edu 37 X 100241809 100241809 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012990.3 +1 validated p.K135N 0.293 339 0% 190 34.7% - - benign(0.104) tolerated(0.49) neutral(0.019) HMMPfam_Arf,superfamily_SSF52540 ARL13A 392509 genome.wustl.edu 37 X 100243193 100243193 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012990.3 +1 validated p.R222I 0.005 327 0% 172 30.8% - - possibly_damaging(0.926) deleterious(0.01) deleterious(0.780) NULL ARL13A 392509 genome.wustl.edu 37 X 100243409 100243409 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012990.3 +1 validated p.T263A 0.992 274 0% 153 30.1% - - probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL ARL13A 392509 genome.wustl.edu 37 X 100245654 100245654 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000372953 +1 known p.S285 0.000 231 0% 139 40.3% - - - - - NULL TMEM35 59353 genome.wustl.edu 37 X 100349673 100349673 + Missense_Mutation SNP G G A rs186789918 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021637.2 +1 validated p.V78I 0.998 489 0% 303 33.7% - - benign(0.005) tolerated(0.69) neutral(0.002) NULL DRP2 1821 genome.wustl.edu 37 X 100496809 100496809 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001939.2 +1 reviewed p.G238W 1.000 182 0% 106 25.5% - - possibly_damaging(0.558) deleterious(0.01) deleterious(0.596) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin DRP2 1821 genome.wustl.edu 37 X 100505981 100505981 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001939.2 +1 reviewed p.L592 1.000 280 0% 165 31.5% - - - - - HMMPfam_efhand_2,superfamily_SSF47473 DRP2 1821 genome.wustl.edu 37 X 100509469 100509469 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001939.2 +1 reviewed p.R678H 1.000 247 0% 143 35% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TAF7L 54457 genome.wustl.edu 37 X 100530221 100530221 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024885.3 -1 reviewed p.K445Q 0.895 635 0% 312 29.8% - - probably_damaging(0.995) tolerated(0.3) deleterious(0.486) NULL TAF7L 54457 genome.wustl.edu 37 X 100538442 100538442 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024885.3 -1 reviewed p.S178Y 1.000 323 0% 158 32.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_TAFII55_N BTK 695 genome.wustl.edu 37 X 100609634 100609634 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000061.2 -1 reviewed p.D539N 1.000 260 0% 157 38.9% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like GLA 2717 genome.wustl.edu 37 X 100652899 100652899 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000169.2 -1 reviewed p.F396L 0.024 157 0% 86 43% - - benign(0) tolerated(0.43) neutral(0.013) superfamily_Glycosyl hydrolase domain ARMCX1 51309 genome.wustl.edu 37 X 100808914 100808914 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016608.1 +1 reviewed p.A334D 1.000 156 0% 112 20.5% - - benign(0.424) tolerated(0.11) neutral(0.409) HMMPfam_DUF634,superfamily_ARM-type_fold ARMCX3 51566 genome.wustl.edu 37 X 100880988 100880988 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016607.3 +1 reviewed p.F340C 1.000 48 0% 29 31% - - probably_damaging(0.978) tolerated(0.11) deleterious(0.692) HMMPfam_DUF634,superfamily_ARM-type_fold ARMCX2 9823 genome.wustl.edu 37 X 100911685 100911685 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014782.5 -1 reviewed p.G297D 0.562 447 0% 257 32.7% - - possibly_damaging(0.949) tolerated(0.36) neutral(0.413) NULL NXF5 55998 genome.wustl.edu 37 X 101091777 101091777 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000372803 -1 known p.G362* 0.585 918 0% 415 34.7% - - - - - NULL ZMAT1 84460 genome.wustl.edu 37 X 101138557 101138557 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001011657.2 -1 reviewed p.R614S 0.952 456 0% 205 35.1% - - benign(0.078) deleterious(0.03) neutral(0.370) NULL ZMAT1 84460 genome.wustl.edu 37 X 101139406 101139406 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001011657.2 -1 reviewed p.E331D 0.001 303 0.7% 159 30.8% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL NXF2B 728343 genome.wustl.edu 37 X 101624903 101624903 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099686.1 -1 provisional p.K72E 0.000 830 0% 476 19.5% - - benign(0) tolerated(1) - NULL ARMCX5 64860 genome.wustl.edu 37 X 101858705 101858705 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022838.3 +1 validated p.E546K 1.000 132 0% 42 38.1% - - possibly_damaging(0.937) deleterious(0.02) deleterious(0.766) HMMPfam_DUF634,superfamily_ARM repeat GPRASP1 9737 genome.wustl.edu 37 X 101912906 101912906 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099410.1 +1 reviewed p.F1355 0.000 59 0% 44 15.9% - - - - - HMMPfam_DUF634,superfamily_ARM-type_fold GPRASP2 114928 genome.wustl.edu 37 X 101972111 101972111 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001004051.2 +1 reviewed p.E772* 1.000 143 0% 81 40.7% - - - - - HMMPfam_DUF634,superfamily_ARM-type_fold BHLHB9 80823 genome.wustl.edu 37 X 102004498 102004498 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142524.1 +1 validated p.P192H 0.984 158 0% 79 38% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL TCEAL8 90843 genome.wustl.edu 37 X 102508566 102508566 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001006684.1 -1 reviewed p.C114* 1.000 392 0% 213 23.9% - - - - - NULL TCEAL5 340543 genome.wustl.edu 37 X 102528888 102528888 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001012979.2 -1 validated p.D202Y 0.023 379 0% 258 41.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL BEX2 84707 genome.wustl.edu 37 X 102564817 102564817 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032621.3 -1 reviewed p.V30F 0.013 226 0% 143 42.7% - - benign(0.066) tolerated(0.13) neutral(0.257) HMMPfam_BEX NGFRAP1 27018 genome.wustl.edu 37 X 102632525 102632525 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_206915.1 +1 validated p.R36* 0.001 421 0.2% 192 38% - - - - - HMMPfam_BEX RAB40A 142684 genome.wustl.edu 37 X 102755393 102755393 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_080879.2 -1 reviewed p.N98D 1.000 401 0% 238 18.1% - - probably_damaging(0.972) tolerated(0.46) neutral(0.426) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 TCEAL1 9338 genome.wustl.edu 37 X 102885126 102885126 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001006639.1 +1 reviewed p.K94 0.870 123 0% 35 11.4% - - - - - HMMPfam_TFA MORF4L2 9643 genome.wustl.edu 37 X 102931453 102931453 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001142418.1 -1 validated p.S168L 1.000 369 0% 193 38.3% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_MRG GLRA4 441509 genome.wustl.edu 37 X 102979840 102979840 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001024452.2 -1 validated p.R63Q 1.000 413 0% 237 38.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like H2BFWT 158983 genome.wustl.edu 37 X 103268177 103268177 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001002916.3 -1 reviewed p.S19L 0.002 122 0% 96 21.9% - - benign(0.004) deleterious(0.01) neutral(0.406) NULL H2BFM 286436 genome.wustl.edu 37 X 103294730 103294730 + Missense_Mutation SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001723437.2 +1 model p.Y166N 0.997 60 0% 38 21.1% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_H2B,HMMPfam_Histone,superfamily_Histone-fold ZCCHC18 644353 genome.wustl.edu 37 X 103359498 103359498 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143978.1 +1 provisional p.P232 0.109 88 0% 38 31.6% - - - - - NULL ZCCHC18 644353 genome.wustl.edu 37 X 103360143 103360143 + RNA SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_026694.1 +1 validated NULL 0.000 18 0% 11 36.4% - - - - - - TEX13A 56157 genome.wustl.edu 37 X 104463685 104463685 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031274.3 -1 reviewed p.S398L 0.434 397 0% 198 31.8% - - - - - NULL NRK 203447 genome.wustl.edu 37 X 105168910 105168910 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198465.2 +1 validated p.R1067* 0.001 518 0% 216 33.8% - - - - - NULL NRK 203447 genome.wustl.edu 37 X 105181435 105181435 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_198465.2 +1 validated p.V1220 1.000 172 0% 100 39% - - - - - HMMPfam_CNH,HMMSmart_SM00036 SERPINA7 6906 genome.wustl.edu 37 X 105279210 105279210 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000354.5 -1 reviewed p.K263N 0.046 500 0% 284 39.1% - - benign(0.183) deleterious(0.01) neutral(0.423) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINA7 6906 genome.wustl.edu 37 X 105279331 105279331 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000354.5 -1 reviewed p.S223Y 0.000 681 0% 337 11.9% - - possibly_damaging(0.94) deleterious(0.03) deleterious(0.750) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINA7 6906 genome.wustl.edu 37 X 105280933 105280933 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000354.5 -1 reviewed p.L39 0.247 289 0% 133 33.8% - - - - - HMMPfam_Serpin,superfamily_Prot_inh_serpin MUM1L1 139221 genome.wustl.edu 37 X 105450669 105450669 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000337685 +1 known p.R415Q 0.997 157 0% 66 47% - - probably_damaging(0.999) tolerated(0.35) deleterious(0.511) superfamily_SSF63748 RNF128 79589 genome.wustl.edu 37 X 105937522 105937522 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024539.3 +1 reviewed p.R97I 1.000 215 0% 114 41.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PA,superfamily_SSF52025 RNF128 79589 genome.wustl.edu 37 X 105970443 105970443 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194463.1 +1 reviewed p.T100 0.998 45 0% 29 48.3% - - - - - superfamily_Transferrin receptor ectodomain apical domain TBC1D8B 54885 genome.wustl.edu 37 X 106070528 106070528 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017752.2 +1 validated p.C388 0.877 131 0% 70 38.6% - - - - - NULL RIPPLY1 92129 genome.wustl.edu 37 X 106144087 106144087 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138382.2 -1 validated p.E116 0.867 653 0% 370 36.5% - - - - - NULL RBM41 55285 genome.wustl.edu 37 X 106312532 106312532 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018301.3 -1 validated p.R343Q 0.983 428 0% 201 33.8% - - benign(0.117) tolerated(0.14) neutral(0.259) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD RBM41 55285 genome.wustl.edu 37 X 106332056 106332056 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018301.3 -1 validated p.K179N 1.000 347 0% 148 27.7% - - possibly_damaging(0.923) tolerated(0.96) neutral(0.372) NULL CXorf41 139212 genome.wustl.edu 37 X 106482156 106482156 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173494.1 +1 validated p.K145T 1.000 222 0% 108 31.5% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL MID2 11043 genome.wustl.edu 37 X 107160908 107160908 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012216.3 +1 reviewed p.W458* 1.000 410 0% 218 35.3% - - - - - HMMSmart_SM00060,superfamily_Fibronectin type III MID2 11043 genome.wustl.edu 37 X 107170265 107170265 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012216.3 +1 reviewed p.E724* 1.000 177 0% 116 36.2% - - - - - NULL PSMD10 5716 genome.wustl.edu 37 X 107330981 107330981 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002814.2 -1 reviewed p.M154I 1.000 446 0% 287 24.7% - - benign(0) tolerated(1) - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ATG4A 115201 genome.wustl.edu 37 X 107396215 107396215 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_052936.2 +1 reviewed p.L342 0.989 175 0% 77 24.7% - - - - - NULL COL4A6 1288 genome.wustl.edu 37 X 107414692 107414692 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001847.2 -1 reviewed e33-1 1.000 307 0% 163 38.7% - - - - - - COL4A6 1288 genome.wustl.edu 37 X 107418386 107418386 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001847.2 -1 reviewed p.L965I 0.001 274 0% 167 39.5% - - benign(0.059) tolerated(0.29) neutral(0.033) NULL COL4A5 1287 genome.wustl.edu 37 X 107924120 107924120 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033380.1 +1 reviewed p.K1341E 1.000 358 0% 155 36.1% - - probably_damaging(0.984) tolerated(0.09) deleterious(0.727) HMMPfam_Collagen COL4A5 1287 genome.wustl.edu 37 X 107938584 107938584 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033380.1 +1 reviewed p.E1637K 1.000 329 0% 198 32.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C4,HMMSmart_C4,superfamily_C-type_lectin_fold COL4A5 1287 genome.wustl.edu 37 X 107939546 107939546 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000515658 +1 known p.A115V 0.998 231 0.4% 106 31.1% - - - - - HMMSmart_SM00111 IRS4 8471 genome.wustl.edu 37 X 107978668 107978668 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003604.2 -1 reviewed p.G303C 1.000 147 0% 76 43.4% - - unknown(0) deleterious(0) - HMMPfam_IRS,HMMSmart_PTBI,superfamily_SSF50729 GUCY2F 2986 genome.wustl.edu 37 X 108625442 108625442 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001522.2 -1 reviewed e16-1 1.000 278 0% 162 39.5% - - - - - - GUCY2F 2986 genome.wustl.edu 37 X 108691353 108691353 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001522.2 -1 reviewed p.R505I 0.877 529 0% 289 32.2% - - possibly_damaging(0.816) deleterious(0) deleterious(0.753) NULL ACSL4 2182 genome.wustl.edu 37 X 108904760 108904760 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022977.2 -1 reviewed p.S607I 1.000 368 0% 205 13.7% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_Acetyl-CoA synthetase-like ACSL4 2182 genome.wustl.edu 37 X 108924304 108924304 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022977.2 -1 reviewed p.N234T 1.000 473 0% 231 37.7% - - benign(0) tolerated(0.64) neutral(0.003) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSL4 2182 genome.wustl.edu 37 X 108926378 108926378 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_022977.2 -1 reviewed p.K113R 1.000 351 0% 207 38.2% - - possibly_damaging(0.447) tolerated(1) neutral(0.146) superfamily_Acetyl-CoA synthetase-like AMMECR1 9949 genome.wustl.edu 37 X 109444255 109444255 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015365.2 -1 reviewed p.D272Y 1.000 649 0% 353 20.4% - - probably_damaging(0.998) tolerated(0.13) deleterious(0.727) HMMPfam_AMMECR1 GNG5P2 347687 genome.wustl.edu 37 X 109590113 109590113 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000372054 -1 known p.A9T 1.000 68 0% 38 44.7% - - benign(0) tolerated(0.34) neutral(0.023) HMMPfam_G-gamma,HMMSmart_SM00224,superfamily_Transducin (heterotrimeric G protein) gamma chain RGAG1 57529 genome.wustl.edu 37 X 109694334 109694334 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020769.2 +1 validated p.E163D 0.481 93 0% 80 23.7% - - benign(0.002) tolerated(0.46) neutral(0.012) NULL RGAG1 57529 genome.wustl.edu 37 X 109697262 109697262 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020769.2 +1 validated p.P1139 1.000 414 0% 189 39.7% - - - - - NULL CHRDL1 91851 genome.wustl.edu 37 X 109919588 109919588 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001143981.1 -1 reviewed p.S416 0.991 290 0.3% 190 37.4% - - - - - NULL PAK3 5063 genome.wustl.edu 37 X 110385389 110385389 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128168.1 +1 reviewed p.H81N 1.000 441 0% 250 39.6% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PBD,HMMSmart_PBD PAK3 5063 genome.wustl.edu 37 X 110437632 110437632 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001128168.1 +1 reviewed p.A402T 1.000 573 0% 281 23.5% - - possibly_damaging(0.519) deleterious(0) deleterious(0.619) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CAPN6 827 genome.wustl.edu 37 X 110491190 110491190 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014289.3 -1 reviewed p.S505 0.174 228 0% 147 38.8% - - - - - superfamily_C2_CaLB CAPN6 827 genome.wustl.edu 37 X 110496273 110496273 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014289.3 -1 reviewed p.E157* 1.000 414 0% 190 37.4% - - - - - HMMPfam_Peptidase_C2,HMMSmart_CysPc,superfamily_SSF54001 ALG13 79868 genome.wustl.edu 37 X 110961439 110961439 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000394780 +1 known p.R396I 1.000 334 0% 136 36% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL TRPC5 7224 genome.wustl.edu 37 X 111195385 111195385 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_012471.2 -1 reviewed p.L88 0.999 185 0% 107 29.9% - - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat AMOT 154796 genome.wustl.edu 37 X 112033826 112033826 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001113490.1 -1 reviewed p.A704D 1.000 262 0% 198 26.3% - - probably_damaging(0.958) deleterious(0.03) deleterious(0.766) NULL AMOT 154796 genome.wustl.edu 37 X 112065997 112065997 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001113490.1 -1 reviewed p.R120W 1.000 200 0% 122 17.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LOC286528 286528 genome.wustl.edu 37 X 113625351 113625351 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_210501.3 +1 model p.F75 1.000 74 0% 40 17.5% - - - - - HMMPfam_Ssu72 LRCH2 57631 genome.wustl.edu 37 X 114400020 114400020 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020871.3 -1 validated p.E435* 1.000 366 0% 164 35.4% - - - - - NULL LRCH2 57631 genome.wustl.edu 37 X 114404978 114404978 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020871.3 -1 validated p.K294N 1.000 233 0% 138 40.6% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_SSF52058 RBMXL3 139804 genome.wustl.edu 37 X 114426821 114426821 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145346.1 +1 validated p.R939 0.692 33 0% 23 34.8% - - - - - NULL LUZP4 51213 genome.wustl.edu 37 X 114540954 114540954 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016383.3 +1 validated p.S176F 0.030 293 0% 139 14.4% - - possibly_damaging(0.952) tolerated(0.06) deleterious(0.718) NULL PLS3 5358 genome.wustl.edu 37 X 114864197 114864197 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136025.3 +1 reviewed p.D140Y 1.000 399 0% 204 37.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain,superfamily_EF-hand LOC642357 642357 genome.wustl.edu 37 X 114937592 114937592 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XR_016681.3 +1 model NULL 0.994 313 0% 193 37.8% - - - - - - AGTR2 186 genome.wustl.edu 37 X 115303997 115303997 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000686.4 +1 reviewed p.R155I 1.000 483 0% 238 35.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like AGTR2 186 genome.wustl.edu 37 X 115304015 115304015 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000686.4 +1 reviewed p.S161Y 0.952 453 0% 229 34.1% - - benign(0.013) tolerated(0.09) neutral(0.297) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SLC6A14 11254 genome.wustl.edu 37 X 115590032 115590032 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007231.3 +1 reviewed p.R614C 1.000 387 0% 192 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KLHL13 90293 genome.wustl.edu 37 X 117053529 117053529 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033495.3 -1 reviewed p.Q175 1.000 215 0% 90 41.1% - - - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB WDR44 54521 genome.wustl.edu 37 X 117527195 117527195 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019045.4 +1 reviewed p.E263K 0.985 266 0% 95 32.6% - - benign(0.121) deleterious(0.03) neutral(0.374) superfamily_WD40 repeat-like WDR44 54521 genome.wustl.edu 37 X 117566843 117566843 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019045.4 +1 reviewed p.L613I 1.000 229 0% 102 37.3% - - possibly_damaging(0.858) deleterious(0.01) deleterious(0.737) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 WDR44 54521 genome.wustl.edu 37 X 117576532 117576532 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019045.4 +1 reviewed p.L758S 1.000 245 0% 133 36.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like WDR44 54521 genome.wustl.edu 37 X 117582888 117582888 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019045.4 +1 reviewed p.L894I 1.000 132 0% 41 41.5% - - benign(0.312) tolerated(0.35) neutral(0.118) superfamily_WD40 repeat-like DOCK11 139818 genome.wustl.edu 37 X 117676740 117676740 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144658.3 +1 validated p.R52I 1.000 460 0% 204 40.2% - - benign(0.005) tolerated(0.06) neutral(0.323) NULL DOCK11 139818 genome.wustl.edu 37 X 117712527 117712527 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144658.3 +1 validated p.L477I 1.000 304 0% 140 35.7% - - probably_damaging(0.993) deleterious(0.03) deleterious(0.815) NULL DOCK11 139818 genome.wustl.edu 37 X 117731476 117731476 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144658.3 +1 validated p.P782 0.943 372 0% 184 38.6% - - - - - NULL DOCK11 139818 genome.wustl.edu 37 X 117773466 117773466 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144658.3 +1 validated p.R1357Q 0.946 181 0% 84 13.1% - - probably_damaging(0.986) deleterious(0.04) deleterious(0.783) NULL IL13RA1 3597 genome.wustl.edu 37 X 117904556 117904556 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000371637 +1 known p.R110Q 0.079 68 0% 46 32.6% - - unknown(0) - - NULL ZCCHC12 170261 genome.wustl.edu 37 X 117960112 117960112 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173798.2 +1 provisional p.Q302R 0.004 118 0% 77 37.7% - - benign(0) tolerated(0.17) neutral(0.059) NULL LONRF3 79836 genome.wustl.edu 37 X 118151516 118151516 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031855.1 +1 reviewed p.A715T 0.995 181 0% 132 35.6% - - possibly_damaging(0.838) deleterious(0.04) deleterious(0.669) HMMPfam_LON,HMMSmart_SM00464 LONRF3 79836 genome.wustl.edu 37 X 118151586 118151586 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001031855.1 +1 reviewed p.R738K 0.394 180 0% 108 35.2% - - benign(0) tolerated(0.87) neutral(0.001) HMMPfam_LON,HMMSmart_SM00464 ENSG00000248857 0 genome.wustl.edu 37 X 118221263 118221263 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000440399 -1 known p.L717I 0.001 120 0% 60 33.3% - - - - - NULL ENSG00000248857 0 genome.wustl.edu 37 X 118221581 118221581 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000440399 -1 known p.L611I 0.092 141 0% 70 35.7% - - - - - NULL KIAA1210 57481 genome.wustl.edu 37 X 118222992 118222992 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020721.1 -1 validated p.S734Y 0.000 47 0% 26 34.6% - - benign(0.038) tolerated(0.08) neutral(0.302) NULL KIAA1210 57481 genome.wustl.edu 37 X 118223103 118223103 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020721.1 -1 validated p.P697H 0.175 129 0% 85 43.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1210 57481 genome.wustl.edu 37 X 118223628 118223628 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020721.1 -1 validated p.S522Y 0.000 922 0.1% 533 37.5% - - possibly_damaging(0.85) - - NULL PGRMC1 10857 genome.wustl.edu 37 X 118377182 118377182 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006667.3 +1 reviewed p.E185* 1.000 349 0% 160 38.8% - - - - - NULL SLC25A43 203427 genome.wustl.edu 37 X 118586877 118586877 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_145305.2 +1 reviewed p.R292I 1.000 228 0% 118 34.7% - - possibly_damaging(0.637) tolerated(0.18) neutral(0.279) HMMPfam_Mito_carr NKRF 55922 genome.wustl.edu 37 X 118723341 118723341 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017544.3 -1 reviewed p.E683K 1.000 214 0% 137 36.5% - - probably_damaging(0.975) deleterious(0.05) deleterious(0.762) NULL NKRF 55922 genome.wustl.edu 37 X 118724939 118724939 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017544.3 -1 reviewed p.S150Y 0.302 426 0% 254 35.4% - - benign(0.11) deleterious(0.04) neutral(0.357) NULL NKRF 55922 genome.wustl.edu 37 X 118726448 118726448 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017544.3 -1 reviewed p.L5I 0.997 413 0% 231 26.8% - - possibly_damaging(0.858) tolerated(0.3) neutral(0.360) NULL SEPT6 23157 genome.wustl.edu 37 X 118786967 118786967 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_015129.5 -1 reviewed p.F126 0.985 406 0% 253 36% - - - - - HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases RPL39 6170 genome.wustl.edu 37 X 118923897 118923897 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000422326 -1 known p.S75P 1.000 375 0% 209 30.6% - - - - - HMMPfam_Ribosomal_L39,superfamily_Ribosomal protein L39e RNF113A 7737 genome.wustl.edu 37 X 119005117 119005117 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006978.2 -1 reviewed p.R154W 1.000 423 0% 254 36.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NKAP 79576 genome.wustl.edu 37 X 119066164 119066164 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024528.3 -1 reviewed p.K251N 1.000 332 0% 144 31.9% - - unknown(0) tolerated(0.48) - NULL NKAP 79576 genome.wustl.edu 37 X 119070328 119070328 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024528.3 -1 reviewed p.S202L 1.000 670 0% 234 29.1% - - unknown(0) deleterious(0.01) - NULL NKAP 79576 genome.wustl.edu 37 X 119070595 119070595 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024528.3 -1 reviewed p.T173N 0.718 158 0% 120 40% - - unknown(0) deleterious(0.04) - NULL ZBTB33 10009 genome.wustl.edu 37 X 119387720 119387720 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006777.3 +1 reviewed p.Q150H 0.543 143 0% 66 42.4% - - possibly_damaging(0.612) tolerated(0.05) deleterious(0.557) NULL LAMP2 3920 genome.wustl.edu 37 X 119565201 119565201 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002294.2 -1 reviewed p.H404N 0.345 223 0% 111 33.3% - - benign(0) deleterious(0.03) neutral(0.364) HMMPfam_Lamp,PatternScan_LAMP_2 CUL4B 8450 genome.wustl.edu 37 X 119664037 119664037 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003588.3 -1 reviewed p.R856* 1.000 612 0% 319 35.1% - - - - - "HMMPfam_Cullin_Nedd8,superfamily_""Winged helix"" DNA-binding domain" CUL4B 8450 genome.wustl.edu 37 X 119670796 119670796 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003588.3 -1 reviewed p.H696Y 1.000 313 0% 171 13.5% - - benign(0.035) deleterious(0.03) neutral(0.366) HMMPfam_Cullin,HMMSmart_SM00182,superfamily_Cullin homology domain CUL4B 8450 genome.wustl.edu 37 X 119679338 119679338 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003588.3 -1 reviewed p.R312I 1.000 214 0% 124 16.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cullin,superfamily_Cullin repeat CUL4B 8450 genome.wustl.edu 37 X 119680992 119680992 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003588.3 -1 reviewed p.E277* 1.000 284 0% 162 38.9% - - - - - HMMPfam_Cullin,superfamily_Cullin repeat CT47B1 643311 genome.wustl.edu 37 X 120009411 120009411 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001145718.1 -1 validated p.S38 0.000 16 0% 20 30% - - - - - NULL GRIA3 2892 genome.wustl.edu 37 X 122319705 122319705 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000828.4 +1 reviewed p.Q44* 1.000 282 0% 182 14.8% - - possibly_damaging(0.915) deleterious(0.01) deleterious(0.772) NULL THOC2 57187 genome.wustl.edu 37 X 122747527 122747527 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000441692 -1 known p.R289Q 1.000 866 0% 439 35.8% - - - - - NULL THOC2 57187 genome.wustl.edu 37 X 122765608 122765608 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001081550.1 -1 validated p.C804 1.000 256 0% 111 32.4% - - - - - NULL STAG2 10735 genome.wustl.edu 37 X 123191727 123191727 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042749.1 +1 validated p.R439H 1.000 296 0% 127 47.2% - - benign(0) tolerated(0.58) neutral(0.005) superfamily_ARM-type_fold STAG2 10735 genome.wustl.edu 37 X 123210307 123210307 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001042749.1 +1 validated p.K887E 1.000 186 0% 109 30.3% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_ARM-type_fold ODZ1 10178 genome.wustl.edu 37 X 123775652 123775652 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014253.3 -1 reviewed p.D689G 1.000 216 0% 149 32.9% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) PatternScan_EGF_1 ACTRT1 139741 genome.wustl.edu 37 X 127185068 127185068 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138289.3 -1 reviewed p.R373I 1.000 246 0% 119 27.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 SMARCA1 6594 genome.wustl.edu 37 X 128633744 128633744 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003069.3 -1 reviewed p.K414N 1.000 408 0% 161 41% - - possibly_damaging(0.919) tolerated(1) neutral(0.369) HMMPfam_SNF2_N OCRL 4952 genome.wustl.edu 37 X 128696421 128696421 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000276.3 +1 reviewed p.R334* 0.002 761 0% 350 37.1% - - - - - HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like OCRL 4952 genome.wustl.edu 37 X 128721048 128721048 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000276.3 +1 reviewed p.E737K 1.000 341 0% 149 29.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP SASH3 54440 genome.wustl.edu 37 X 128927026 128927026 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018990.3 +1 reviewed p.R288Q 1.000 108 0% 78 39.7% - - possibly_damaging(0.478) tolerated(0.2) neutral(0.207) HMMSmart_SAM,superfamily_SAM_homology,HMMPfam_SAM_2 BCORL1 63035 genome.wustl.edu 37 X 129148791 129148791 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000441294 +1 known p.L117F 0.994 133 0.8% 82 40.2% - - - - - NULL BCORL1 63035 genome.wustl.edu 37 X 129149156 129149156 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021946.3 +1 reviewed p.S803Y 0.061 96 0% 44 36.4% - - probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL BCORL1 63035 genome.wustl.edu 37 X 129156916 129156916 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021946.3 +1 reviewed p.P1218S 1.000 392 0% 248 28.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL BCORL1 63035 genome.wustl.edu 37 X 129162690 129162690 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021946.3 +1 reviewed p.N1387D 0.461 247 0% 117 35% - - benign(0.02) tolerated(0.25) neutral(0.038) NULL BCORL1 63035 genome.wustl.edu 37 X 129184761 129184761 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_021946.3 +1 reviewed p.S1563F 1.000 647 0% 325 31.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF280C 55609 genome.wustl.edu 37 X 129362962 129362962 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017666.4 -1 validated p.H379R 0.979 756 0.3% 393 33.6% - - benign(0.055) tolerated(0.21) neutral(0.048) NULL ARHGAP36 158763 genome.wustl.edu 37 X 130218322 130218322 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_144967.3 +1 validated p.P230L 0.995 210 0% 111 31.5% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_GTPase activation domain GAP IGSF1 3547 genome.wustl.edu 37 X 130408573 130408573 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001555.4 -1 reviewed p.G1251W 1.000 239 0% 173 19.7% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL IGSF1 3547 genome.wustl.edu 37 X 130409671 130409671 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001555.4 -1 reviewed p.L989I 1.000 190 0% 128 40.6% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin IGSF1 3547 genome.wustl.edu 37 X 130413267 130413267 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001555.4 -1 reviewed p.I565 0.377 194 0% 119 31.1% - - - - - NULL MST4 51765 genome.wustl.edu 37 X 131203645 131203645 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_016542.3 +1 reviewed p.S246Y 1.000 299 0% 126 31.7% - - benign(0.002) deleterious(0.04) neutral(0.349) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FRMD7 90167 genome.wustl.edu 37 X 131212391 131212391 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_194277.2 -1 reviewed p.E552* 0.934 424 0% 204 35.8% - - - - - NULL MBNL3 55796 genome.wustl.edu 37 X 131526331 131526331 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018388.3 -1 reviewed p.A125V 0.996 442 0% 184 22.8% - - benign(0.097) tolerated(0.14) neutral(0.257) NULL USP26 83844 genome.wustl.edu 37 X 132159906 132159906 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031907.1 -1 reviewed p.Q781 0.001 332 0% 167 42.5% - - - - - HMMPfam_UCH,superfamily_Cysteine proteinases USP26 83844 genome.wustl.edu 37 X 132161036 132161036 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_031907.1 -1 reviewed p.W405R 0.000 81 0% 34 47.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_UCH,superfamily_Cysteine proteinases GPC4 2239 genome.wustl.edu 37 X 132437080 132437080 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001448.2 -1 reviewed p.E496K 1.000 221 0% 128 27.3% - - possibly_damaging(0.731) deleterious(0.04) deleterious(0.616) HMMPfam_Glypican GPC4 2239 genome.wustl.edu 37 X 132458412 132458412 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001448.2 -1 reviewed p.E158* 1.000 144 0% 69 39.1% - - - - - HMMPfam_Glypican LOC100288762 100288762 genome.wustl.edu 37 X 132670224 132670224 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343849.1 +1 model p.V3I 0.000 404 0% 277 28.2% - - - - - NULL LOC100288762 100288762 genome.wustl.edu 37 X 132730669 132730669 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343849.1 +1 model p.F104L 0.000 335 0% 224 41.1% - - - - - NULL GPC3 2719 genome.wustl.edu 37 X 132887945 132887945 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004484.3 -1 reviewed p.R199Q 1.000 921 0.3% 551 36.8% - - benign(0.324) tolerated(0.08) neutral(0.401) HMMPfam_Glypican GPC3 2719 genome.wustl.edu 37 X 132888183 132888183 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004484.3 -1 reviewed p.R120C 1.000 442 0% 266 34.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Glypican CCDC160 347475 genome.wustl.edu 37 X 133379094 133379094 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001101357.1 +1 provisional p.K88N 0.018 91 0% 26 30.8% - - benign(0.052) tolerated(0.31) neutral(0.030) NULL PHF6 84295 genome.wustl.edu 37 X 133527960 133527960 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001015877.1 +1 reviewed p.K132N 1.000 264 0% 135 36.3% - - possibly_damaging(0.718) tolerated(0.17) neutral(0.319) HMMSmart_SM00249 HPRT1 3251 genome.wustl.edu 37 X 133627595 133627595 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000194.2 +1 reviewed p.N154H 1.000 334 0% 179 33.5% - - benign(0) tolerated(0.11) neutral(0.272) HMMPfam_Pribosyltran,superfamily_PRTase-like HPRT1 3251 genome.wustl.edu 37 X 133627615 133627615 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000194.2 +1 reviewed p.V160 0.366 317 0% 175 34.9% - - - - - HMMPfam_Pribosyltran,superfamily_PRTase-like FAM122C 159091 genome.wustl.edu 37 X 133948872 133948872 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138819.3 +1 validated p.R61H 0.000 285 0% 116 31% - - benign(0.001) tolerated(1) - NULL FAM122C 159091 genome.wustl.edu 37 X 133988190 133988190 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000370784 +1 known p.S171L 0.015 407 0% 257 38.9% - - unknown(0) - - NULL MOSPD1 56180 genome.wustl.edu 37 X 134030900 134030900 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_019556.1 -1 provisional p.R132I 1.000 361 0% 209 24.9% - - probably_damaging(0.99) tolerated(0.12) deleterious(0.702) NULL LOC100128949 100128949 genome.wustl.edu 37 X 134155849 134155849 + Silent SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_001720075.2 +1 model p.L46 0.003 206 0% 112 39.3% - - benign(0.012) - - NULL FAM127C 441518 genome.wustl.edu 37 X 134156316 134156316 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001078173.1 -1 validated p.F58L 0.294 167 0% 118 43.2% - - possibly_damaging(0.948) deleterious(0.01) deleterious(0.796) NULL LOC644717 644717 genome.wustl.edu 37 X 134774258 134774258 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343850.1 -1 model p.L820M 0.007 26 0% 17 23.5% - - - - - NULL SAGE1 55511 genome.wustl.edu 37 X 134988294 134988294 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018666.2 +1 reviewed p.P189H 0.000 184 0% 230 34.3% - - probably_damaging(0.976) tolerated(0.06) deleterious(0.740) NULL SAGE1 55511 genome.wustl.edu 37 X 134989171 134989171 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018666.2 +1 reviewed p.G275W 0.003 262 0% 144 31.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SAGE1 55511 genome.wustl.edu 37 X 134994054 134994054 + Missense_Mutation SNP G G T rs4829584 byCluster;byFrequency;by2Hit2Allele;by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018666.2 +1 reviewed p.K821N 0.001 114 0% 57 38.6% - - probably_damaging(0.962) deleterious(0.01) deleterious(0.810) NULL FHL1 2273 genome.wustl.edu 37 X 135289252 135289252 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001449.4 +1 reviewed p.E78D 1.000 107 0% 48 43.8% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) GPR112 139378 genome.wustl.edu 37 X 135405443 135405443 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153834.3 +1 reviewed p.E193K 0.983 301 0.3% 139 27.3% - - probably_damaging(0.967) deleterious(0) deleterious(0.853) superfamily_ConA_like_lec_gl GPR112 139378 genome.wustl.edu 37 X 135428746 135428746 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153834.3 +1 reviewed p.I961L 0.000 144 0% 86 38.4% - - benign(0.001) tolerated(0.51) neutral(0.009) NULL GPR112 139378 genome.wustl.edu 37 X 135429783 135429783 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153834.3 +1 reviewed p.K1306N 0.000 109 0% 91 38.5% - - benign(0.017) tolerated(0.14) neutral(0.250) NULL GPR112 139378 genome.wustl.edu 37 X 135431011 135431011 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153834.3 +1 reviewed p.G1716S 0.000 289 0% 130 38.5% - - possibly_damaging(0.867) tolerated(0.35) neutral(0.357) NULL GPR112 139378 genome.wustl.edu 37 X 135431692 135431692 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153834.3 +1 reviewed p.S1943P 0.000 252 0% 183 33.3% - - benign(0) deleterious(0) neutral(0.445) NULL GPR112 139378 genome.wustl.edu 37 X 135441574 135441574 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_153834.3 +1 reviewed p.T2368 0.000 325 0% 183 33.3% - - - - - NULL BRS3 680 genome.wustl.edu 37 X 135574330 135574330 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001727.1 +1 validated p.W332* 1.000 453 0% 233 39.1% - - - - - superfamily_SSF81321 HTATSF1 27336 genome.wustl.edu 37 X 135582834 135582834 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014500.4 +1 reviewed p.D143Y 1.000 187 0% 112 12.5% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 HTATSF1 27336 genome.wustl.edu 37 X 135593792 135593792 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_014500.4 +1 reviewed p.E630* 0.181 331 0% 126 34.9% - - - - - NULL ARHGEF6 9459 genome.wustl.edu 37 X 135789114 135789114 + Silent SNP A A T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004840.2 -1 reviewed p.A333 1.000 349 0% 230 32.6% - - - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) GPR101 83550 genome.wustl.edu 37 X 136112327 136112327 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_054021.1 -1 validated p.D503N 0.106 227 0% 116 29.3% - - benign(0.001) deleterious(0) neutral(0.445) NULL GPR101 83550 genome.wustl.edu 37 X 136112616 136112616 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_054021.1 -1 validated p.F406L 1.000 304 0% 178 36.5% - - benign(0.297) tolerated(0.09) neutral(0.388) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR101 83550 genome.wustl.edu 37 X 136113832 136113832 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_054021.1 -1 validated p.M1T 0.027 61 0% 44 38.6% - - possibly_damaging(0.662) deleterious(0) deleterious(0.678) NULL FGF13 2258 genome.wustl.edu 37 X 137821411 137821411 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_033642.2 -1 reviewed p.S7 0.477 402 0% 188 23.4% - - - - - NULL F9 2158 genome.wustl.edu 37 X 138633241 138633241 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000133.3 +1 reviewed p.V181F 0.998 343 0% 169 38.5% - - possibly_damaging(0.543) tolerated(0.22) neutral(0.226) superfamily_EGF/Laminin MCF2 4168 genome.wustl.edu 37 X 138678782 138678782 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099855.1 -1 reviewed p.F795V 0.995 309 0% 195 16.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 MCF2 4168 genome.wustl.edu 37 X 138698530 138698530 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099855.1 -1 reviewed p.N428H 1.000 79 0% 46 54.3% - - possibly_damaging(0.86) tolerated(0.07) deleterious(0.651) NULL ATP11C 286410 genome.wustl.edu 37 X 138825742 138825742 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000433868 -1 known p.L38F 1.000 177 0% 60 41.7% - - - - - NULL ATP11C 286410 genome.wustl.edu 37 X 138844171 138844171 + Silent SNP T T A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173694.4 -1 validated p.G866 0.998 297 0% 141 29.1% - - - - - NULL ATP11C 286410 genome.wustl.edu 37 X 138864759 138864759 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000422228 -1 known p.S188L 1.000 342 0.9% 167 26.9% - - - - - superfamily_Metal cation-transporting ATPase ATP-binding domain N ATP11C 286410 genome.wustl.edu 37 X 138880851 138880851 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173694.4 -1 validated p.T257 0.998 238 0% 141 27.7% - - - - - superfamily_Calcium ATPase transduction domain A SOX3 6658 genome.wustl.edu 37 X 139586881 139586881 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005634.2 -1 reviewed p.G115 1.000 33 0% 19 21.1% - - - - - NULL CDR1 1038 genome.wustl.edu 37 X 139866106 139866106 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004065.2 -1 reviewed p.S142 0.020 423 0% 278 10.8% - - - - - NULL MAGEC3 139081 genome.wustl.edu 37 X 140969309 140969309 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138702.1 +1 reviewed p.M212I 0.000 362 0.3% 202 34.2% - - unknown(0) tolerated(0.1) - HMMPfam_MAGE MAGEC3 139081 genome.wustl.edu 37 X 140984750 140984750 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138702.1 +1 reviewed p.I402 0.023 287 0% 150 35.3% - - - - - NULL MAGEC3 139081 genome.wustl.edu 37 X 140985179 140985179 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_138702.1 +1 reviewed p.K545N 0.000 308 0% 206 39.3% - - possibly_damaging(0.9) deleterious(0.01) deleterious(0.762) HMMPfam_MAGE MAGEC1 9947 genome.wustl.edu 37 X 140995520 140995520 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005462.4 +1 reviewed p.R777I 0.001 217 0% 133 34.6% - - unknown(0) tolerated(0.07) - NULL LOC392555 392555 genome.wustl.edu 37 X 141261179 141261179 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 XM_002343852.1 -1 model p.E250* 0.003 129 0% 85 12.9% - - - - - HMMPfam_MAGE SPANXN3 139067 genome.wustl.edu 37 X 142596720 142596720 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001009609.2 -1 validated p.S117* 0.000 466 0% 325 32.9% - - - - - NULL SLITRK4 139065 genome.wustl.edu 37 X 142718685 142718685 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173078.3 -1 reviewed p.L80F 0.985 48 0% 29 44.8% - - possibly_damaging(0.904) deleterious(0.03) deleterious(0.723) superfamily_L domain-like SLITRK2 84631 genome.wustl.edu 37 X 144904135 144904135 + Silent SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144003.2 +1 reviewed p.I64 1.000 298 0% 185 34.6% - - - - - HMMSmart_SM00013,superfamily_L domain-like SLITRK2 84631 genome.wustl.edu 37 X 144905741 144905741 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001144003.2 +1 reviewed p.R600W 0.001 82 0% 52 40.4% - - benign(0.251) tolerated(0.12) neutral(0.286) NULL MIR890 100126303 genome.wustl.edu 37 X 145075834 145075834 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000401256 -1 known NULL 0.000 145 0% 72 30.6% - - - - - - MIR513A1 574509 genome.wustl.edu 37 X 146295065 146295065 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000385138 -1 known NULL 0.049 555 0% 363 33.1% - - - - - - FMR1 2332 genome.wustl.edu 37 X 147026530 147026530 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002024.5 +1 reviewed p.G538E 0.969 486 0% 184 38% - - benign(0.159) deleterious(0) neutral(0.459) NULL AFF2 2334 genome.wustl.edu 37 X 147743515 147743515 + Silent SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002025.3 +1 reviewed p.S89 0.998 225 0% 95 36.8% - - - - - HMMPfam_AF-4 AFF2 2334 genome.wustl.edu 37 X 147743574 147743574 + Missense_Mutation SNP A A C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002025.3 +1 reviewed p.K109T 1.000 387 0% 122 41.8% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_AF-4 AFF2 2334 genome.wustl.edu 37 X 148062317 148062317 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_002025.3 +1 reviewed p.G1207V 1.000 235 0% 115 36.5% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_AF-4 MAGEA8 4107 genome.wustl.edu 37 X 149013071 149013071 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005364.4 +1 reviewed p.R9C 0.000 67 0% 45 17.8% - - probably_damaging(0.982) deleterious(0.02) deleterious(0.809) NULL MAMLD1 10046 genome.wustl.edu 37 X 149638881 149638881 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005491.3 +1 reviewed p.P346S 0.980 78 0% 51 33.3% - - possibly_damaging(0.796) tolerated(0.06) deleterious(0.621) NULL MTM1 4534 genome.wustl.edu 37 X 149767149 149767149 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000252.2 +1 reviewed p.T77M 1.000 237 0% 113 45.1% - - benign(0.002) tolerated(0.14) neutral(0.249) HMMPfam_GRAM,HMMSmart_GRAM,superfamily_SSF50729 MTM1 4534 genome.wustl.edu 37 X 149809878 149809878 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000252.2 +1 reviewed p.R222Q 0.983 298 0% 175 48% - - possibly_damaging(0.823) tolerated(0.07) deleterious(0.631) HMMPfam_Myotub-related,superfamily_SSF52799 MTM1 4534 genome.wustl.edu 37 X 149832078 149832078 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000252.2 +1 reviewed p.Q547R 1.000 219 0% 75 21.3% - - benign(0.008) tolerated(0.35) neutral(0.021) NULL MTMR1 8776 genome.wustl.edu 37 X 149899995 149899995 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_003828.2 +1 reviewed p.F257L 0.727 299 0% 163 21.5% - - benign(0) tolerated(1) - HMMPfam_Myotub-related,superfamily_(Phosphotyrosine protein) phosphatases II HMGB3 3149 genome.wustl.edu 37 X 150154642 150154642 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005342.2 +1 validated p.P90H 1.000 153 0% 67 47.8% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_HMG-box PASD1 139135 genome.wustl.edu 37 X 150840091 150840091 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173493.2 +1 reviewed p.S426Y 0.000 222 0.5% 131 20.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PASD1 139135 genome.wustl.edu 37 X 150840202 150840202 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173493.2 +1 reviewed p.S463F 0.000 257 0% 169 37.9% - - probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL PASD1 139135 genome.wustl.edu 37 X 150842554 150842554 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_173493.2 +1 reviewed p.R691W 0.000 219 0% 109 36.7% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL PRRG3 79057 genome.wustl.edu 37 X 150873795 150873795 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000448324 +1 known p.V67M 0.000 175 0% 79 31.6% - - benign(0.073) - - NULL CNGA2 1260 genome.wustl.edu 37 X 150912171 150912171 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005140.1 +1 reviewed p.R399Q 1.000 192 0% 154 35.1% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) superfamily_cNMP_binding GABRE 2564 genome.wustl.edu 37 X 151138847 151138847 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004961.3 -1 reviewed p.K28N 0.000 152 0% 99 32.3% - - benign(0.02) deleterious(0.03) neutral(0.365) NULL MAGEA10 4109 genome.wustl.edu 37 X 151304047 151304047 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001011543.1 -1 reviewed p.L16I 0.000 118 0% 71 31% - - probably_damaging(0.963) tolerated(0.4) neutral(0.422) NULL GABRA3 2556 genome.wustl.edu 37 X 151376472 151376472 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000808.3 -1 reviewed e6+1 1.000 233 0% 152 36.8% - - - - - - GABRQ 55879 genome.wustl.edu 37 X 151806758 151806758 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018558.2 +1 reviewed p.F34 0.000 146 0% 111 35.1% - - - - - NULL GABRQ 55879 genome.wustl.edu 37 X 151819993 151819993 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_018558.2 +1 reviewed p.L302 0.258 514 0% 288 13.5% - - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM MAGEA12 4111 genome.wustl.edu 37 X 151900573 151900573 + Missense_Mutation SNP G G C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005367.5 -1 reviewed p.N76K 0.002 339 0% 194 37.1% - - benign(0.062) tolerated(0.92) neutral(0.004) NULL MAGEA3 4102 genome.wustl.edu 37 X 151935750 151935750 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005362.3 -1 reviewed p.V139 0.000 477 0% 286 36% - - - - - HMMPfam_MAGE CETN2 1069 genome.wustl.edu 37 X 151998196 151998196 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004344.1 -1 reviewed p.D38Y 1.000 452 0% 292 37.3% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 NSDHL 50814 genome.wustl.edu 37 X 152031206 152031206 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001129765.1 +1 reviewed p.D161Y 1.000 500 0% 219 32.9% - - possibly_damaging(0.902) deleterious(0.01) deleterious(0.762) HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd ZNF185 7739 genome.wustl.edu 37 X 152083292 152083292 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007150.3 +1 reviewed p.V25I 0.891 117 0% 55 41.8% - - benign(0.287) tolerated(0.6) neutral(0.093) NULL ZNF185 7739 genome.wustl.edu 37 X 152085894 152085894 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_007150.3 +1 reviewed p.G110E 0.219 142 0% 99 31.3% - - probably_damaging(1) tolerated(0.11) deleterious(0.772) NULL ZNF185 7739 genome.wustl.edu 37 X 152113955 152113955 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000426821 +1 known p.E237K 0.000 133 0% 67 28.4% - - - - - NULL PNMA5 114824 genome.wustl.edu 37 X 152159384 152159384 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001103150.1 -1 validated p.P253 0.000 65 0% 21 38.1% - - - - - NULL PNMA5 114824 genome.wustl.edu 37 X 152159441 152159441 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001103150.1 -1 validated p.I234 0.313 93 0% 50 48% - - - - - NULL ZFP92 139735 genome.wustl.edu 37 X 152686126 152686126 + Silent SNP G G A rs140854514 by1000genomes TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136273.1 +1 validated p.S97 0.000 123 0% 66 33.3% - - - - - NULL ZFP92 139735 genome.wustl.edu 37 X 152686375 152686375 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001136273.1 +1 validated p.Y180 0.001 87 0% 69 37.7% - - - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 HAUS7 55559 genome.wustl.edu 37 X 152721962 152721962 + Silent SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017518.6 -1 reviewed p.D208 0.000 141 0% 86 31.4% - - - - - NULL HAUS7 55559 genome.wustl.edu 37 X 152722093 152722093 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017518.6 -1 reviewed p.E165K 0.000 139 0% 71 32.4% - - probably_damaging(0.973) tolerated(0.34) neutral(0.438) NULL ATP2B3 492 genome.wustl.edu 37 X 152815061 152815061 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001001344.2 +1 reviewed p.R482H 1.000 258 0.4% 168 41.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M FAM58A 92002 genome.wustl.edu 37 X 152860121 152860121 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000276345 -1 known p.G103S 0.461 83 0% 49 16.3% - - benign(0) tolerated(1) - HMMSmart_CYCLIN,superfamily_Cyclin_like DUSP9 1852 genome.wustl.edu 37 X 152915045 152915045 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000433144 +1 known p.S215L 0.201 108 0% 72 26.4% - - - - - HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II PNCK 139728 genome.wustl.edu 37 X 152936826 152936826 + Silent SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000370142 -1 known p.L199 0.832 81 0% 59 35.6% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PNCK 139728 genome.wustl.edu 37 X 152938464 152938464 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001039582.3 -1 validated p.S106L 1.000 39 0% 39 41% - - benign(0.073) deleterious(0.02) neutral(0.388) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase SLC6A8 6535 genome.wustl.edu 37 X 152956836 152956836 + Missense_Mutation SNP T T G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005629.3 +1 reviewed p.Y158D 1.000 237 0% 142 40.8% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_2 ABCD1 215 genome.wustl.edu 37 X 152991459 152991459 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000033.3 +1 reviewed p.I246 0.555 31 0% 29 37.9% - - - - - HMMPfam_ABC_membrane_2 PLXNB3 5365 genome.wustl.edu 37 X 153036324 153036324 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005393.2 +1 reviewed p.L708I 0.996 133 0% 92 35.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL IDH3G 3421 genome.wustl.edu 37 X 153051811 153051811 + Missense_Mutation SNP T T C novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_004135.2 -1 reviewed p.K340E 1.000 295 0% 191 35.1% - - benign(0.183) tolerated(0.14) neutral(0.267) HMMPfam_Iso_dh,superfamily_SSF53659 IDH3G 3421 genome.wustl.edu 37 X 153056250 153056250 + Splice_Site SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000427365 -1 known e0+1 0.004 166 0% 104 26% - - - - - - SSR4 6748 genome.wustl.edu 37 X 153063205 153063205 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_006280.1 +1 reviewed p.S96N 0.163 72 0% 36 25% - - benign(0.001) tolerated(0.29) neutral(0.029) HMMPfam_TRAP-delta PDZD4 57595 genome.wustl.edu 37 X 153069193 153069193 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_032512.2 -1 provisional p.R642Q 1.000 35 0% 36 52.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL L1CAM 3897 genome.wustl.edu 37 X 153132569 153132569 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000425.3 -1 reviewed p.K716N 1.000 396 0% 298 38.6% - - possibly_damaging(0.894) deleterious(0.03) deleterious(0.716) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III L1CAM 3897 genome.wustl.edu 37 X 153134336 153134336 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000425.3 -1 reviewed p.L447M 1.000 212 0% 123 35% - - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin L1CAM 3897 genome.wustl.edu 37 X 153135571 153135571 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000425.3 -1 reviewed p.R311C 0.930 177 0% 148 37.8% - - probably_damaging(0.953) deleterious(0) deleterious(0.841) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ARHGAP4 393 genome.wustl.edu 37 X 153176611 153176611 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000442172 -1 known p.R40K 1.000 182 0% 94 31.9% - - - - - HMMSmart_SM00324,superfamily_GTPase activation domain GAP ARHGAP4 393 genome.wustl.edu 37 X 153184317 153184317 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001666.4 -1 reviewed p.R334H 0.985 121 0% 48 33.3% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL HCFC1 3054 genome.wustl.edu 37 X 153219912 153219912 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005334.2 -1 reviewed p.A1313V 0.003 495 0% 316 37.3% - - benign(0.001) tolerated(0.29) neutral(0.029) NULL HCFC1 3054 genome.wustl.edu 37 X 153220513 153220513 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005334.2 -1 reviewed p.E1113K 1.000 224 0.9% 162 38.9% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL IRAK1 3654 genome.wustl.edu 37 X 153278594 153278594 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000437278 -1 known p.W174* 0.000 21 0% 11 45.5% - - - - - NULL IRAK1 3654 genome.wustl.edu 37 X 153283517 153283517 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001569.3 -1 reviewed p.F283L 0.046 133 0% 85 14.1% - - benign(0) tolerated(0.52) neutral(0.009) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FLNA 2316 genome.wustl.edu 37 X 153590879 153590879 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001110556.1 -1 reviewed p.F824 0.996 95 0% 74 41.9% - - - - - HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNA 2316 genome.wustl.edu 37 X 153591041 153591041 + Missense_Mutation SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001110556.1 -1 reviewed p.E798K 0.998 118 0% 68 32.4% - - possibly_damaging(0.81) deleterious(0.02) deleterious(0.688) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin EMD 2010 genome.wustl.edu 37 X 153608700 153608700 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000117.2 +1 reviewed p.F124L 0.000 47 0% 22 31.8% - - benign(0) tolerated(1) - NULL TAZ 6901 genome.wustl.edu 37 X 153648064 153648064 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000116.3 +1 reviewed p.E188K 0.998 236 0% 112 20.5% - - benign(0.424) deleterious(0.02) deleterious(0.520) HMMPfam_Acyltransferase,HMMSmart_SM00563,superfamily_Glycerol-3-phosphate (1)-acyltransferase ATP6AP1 537 genome.wustl.edu 37 X 153660174 153660174 + Splice_Site SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001183.4 +1 reviewed e3-2 0.997 180 0% 103 36.9% - - - - - - PLXNA3 55558 genome.wustl.edu 37 X 153693831 153693831 + Missense_Mutation SNP A A G novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_017514.3 +1 reviewed p.D770G 0.994 246 0% 147 37.4% - - possibly_damaging(0.692) tolerated(0.54) neutral(0.255) NULL IKBKG 8517 genome.wustl.edu 37 X 153780395 153780395 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001099856.2 +1 reviewed p.E128* 1.000 73 0% 39 53.8% - - - - - NULL CTAG2 30848 genome.wustl.edu 37 X 153880617 153880617 + Silent SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_020994.3 -1 reviewed p.P186 0.001 292 0.3% 195 30.3% - - - - - NULL DKC1 1736 genome.wustl.edu 37 X 153994649 153994649 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001363.3 +1 reviewed p.R141H 0.991 208 0% 117 31.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TruB_N,superfamily_PsdUridine_synth_cat_dom SNORA56 677835 genome.wustl.edu 37 X 154003350 154003350 + RNA SNP C C T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NR_002984.1 +1 reviewed NULL 0.000 58 0% 35 31.4% - - - - - - F8 2157 genome.wustl.edu 37 X 154185319 154185319 + Silent SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000132.3 -1 reviewed p.F555 0.759 519 0.2% 293 38.9% - - - - - superfamily_Cupredoxins F8 2157 genome.wustl.edu 37 X 154227852 154227852 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_000132.3 -1 reviewed p.S56Y 0.032 396 0% 195 33.3% - - possibly_damaging(0.508) deleterious(0.01) deleterious(0.576) superfamily_Cupredoxins BRCC3 79184 genome.wustl.edu 37 X 154307013 154307013 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000399026 +1 known p.F88L 0.000 342 0% 185 41.6% - - unknown(0) deleterious(0) - NULL BRCC3 79184 genome.wustl.edu 37 X 154348405 154348405 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_024332.2 +1 reviewed p.E311* 1.000 214 0% 85 38.8% - - - - - NULL CLIC2 1193 genome.wustl.edu 37 X 154509325 154509325 + Missense_Mutation SNP G G T novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_001289.4 -1 reviewed p.S109Y 0.999 363 0% 176 33% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Glutathione S-transferase (GST) C-terminal domain SPRY3 10251 genome.wustl.edu 37 X 155004200 155004200 + Missense_Mutation SNP G G A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 NM_005840.1 +1 validated p.A223T 0.999 351 0% 250 37.6% - - benign(0.036) tolerated(0.15) neutral(0.243) HMMPfam_Sprouty IL9R 3581 genome.wustl.edu 37 X 155233375 155233375 + Missense_Mutation SNP C C A novel TCGA-BS-A0UV-01A-11D-A10B-09 TCGA-BS-A0UV-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1739564-668d-408e-8f9c-8f4c0328e7f0 bdf22c4b-9e86-4296-a7aa-e589082169d0 ENST00000369423 +1 known p.S141Y 0.005 209 0% 202 19.3% - - possibly_damaging(0.722) deleterious(0.03) deleterious(0.627) NULL