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 HP1BP3 50809 genome.wustl.edu 37 1 21092012 21092012 + Missense_Mutation SNP C C T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_016287.3 -1 validated p.A250T 0.033 259 0% 190 30.5% 6 0% benign(0.001) tolerated(0.25) neutral(0.037) NULL FUCA1 2517 genome.wustl.edu 37 1 24180899 24180899 + Missense_Mutation SNP C C T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_000147.4 -1 reviewed p.R307H 0.992 131 0.8% 100 38% 4 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Alpha_L_fucos,superfamily_Glyco_hydro_cat LRRC7 57554 genome.wustl.edu 37 1 70478708 70478708 + Missense_Mutation SNP G G A novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_020794.2 +1 validated p.E358K 1.000 276 0% 322 44.1% 0 - probably_damaging(0.993) tolerated(0.09) deleterious(0.746) superfamily_RNI-like SRGAP2 23380 genome.wustl.edu 37 1 206626602 206626602 + Missense_Mutation SNP G G C novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e ENST00000367123 +1 known p.E51Q 1.000 161 0% 103 19.4% 4 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain PTPN14 5784 genome.wustl.edu 37 1 214557614 214557614 + Silent SNP C C T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_005401.4 -1 reviewed p.P528 0.330 163 0% 65 21.5% 1 0% - - - NULL CAPN8 388743 genome.wustl.edu 37 1 223718206 223718206 + Missense_Mutation SNP A A G novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_001143962.1 -1 validated p.Y516H 0.990 139 0% 125 23.2% 10 80% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_EF-hand OBSCN 84033 genome.wustl.edu 37 1 228461557 228461557 + Missense_Mutation SNP C C G novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_001098623.1 +1 reviewed p.L1742V 0.001 59 0% 27 25.9% 0 - probably_damaging(0.977) tolerated(1) neutral(0.419) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228527680 228527680 + Missense_Mutation SNP G G A novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_001098623.1 +1 reviewed p.D5765N 1.000 126 0% 56 19.6% 2 50% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) RYR2 6262 genome.wustl.edu 37 1 237729915 237729915 + Missense_Mutation SNP T T G novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_001035.2 +1 reviewed p.F1088C 1.000 177 0% 109 21.1% 0 - probably_damaging(0.995) - - NULL PTCD3 55037 genome.wustl.edu 37 2 86350884 86350884 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_017952.5 +1 validated p.R239* 0.990 399 0% 627 16.6% 1 0% - - - NULL RANBP2 5903 genome.wustl.edu 37 2 109379931 109379931 + Missense_Mutation SNP G G T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_006267.4 +1 reviewed p.G979V 1.000 272 0% 262 23.3% 2 50% unknown(0) - - NULL ENSG00000163075 0 genome.wustl.edu 37 2 120388525 120388525 + Silent SNP A A T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e ENST00000413057 +1 known p.Q222L 0.000 173 0% 162 24.1% 0 - - - - NULL MYO3B 140469 genome.wustl.edu 37 2 171319906 171319906 + Missense_Mutation SNP C C T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_138995.3 +1 validated p.P920L 1.000 232 0% 241 40.2% 0 - possibly_damaging(0.897) tolerated(0.1) deleterious(0.640) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases TTN 7273 genome.wustl.edu 37 2 179436010 179436010 + Missense_Mutation SNP C C G novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e ENST00000356127 -1 known p.R22380T 1.000 238 0% 235 19.6% 0 - possibly_damaging(0.794) - - HMMPfam_fn3,HMMSmart_SM00060 STAT4 6775 genome.wustl.edu 37 2 191900938 191900938 + Missense_Mutation SNP G G T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_003151.2 -1 reviewed p.R508S 1.000 313 0% 324 10.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_P53_like_DNA_bnd,HMMPfam_STAT_bind PIKFYVE 200576 genome.wustl.edu 37 2 209136257 209136257 + Missense_Mutation SNP A A G novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_015040.3 +1 reviewed p.D5G 1.000 470 0% 369 32.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CTNNB1 1499 genome.wustl.edu 37 3 41266838 41266838 + Missense_Mutation SNP A A T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_001098209.1 +1 reviewed p.K170M 1.000 132 0% 106 21.7% 9 0% benign(0.036) deleterious(0) neutral(0.447) HMMSmart_SM00185,superfamily_ARM repeat NKTR 4820 genome.wustl.edu 37 3 42678614 42678614 + Missense_Mutation SNP G G A novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_005385.3 +1 reviewed p.R473Q 0.002 73 0% 133 32.3% 0 - unknown(0) deleterious(0.01) - NULL ANO10 55129 genome.wustl.edu 37 3 43607160 43607160 + Missense_Mutation SNP C C T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_018075.3 -1 validated p.M426I 1.000 180 0% 305 32.5% 3 0% possibly_damaging(0.712) tolerated(0.28) neutral(0.289) NULL USP4 7375 genome.wustl.edu 37 3 49323660 49323660 + Missense_Mutation SNP C C T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_003363.3 -1 validated p.E691K 0.000 769 0% 1180 14.1% 35 8.5% benign(0) tolerated(0.65) neutral(0.003) HMMPfam_UCH,superfamily_Cysteine proteinases IQCF1 132141 genome.wustl.edu 37 3 51929042 51929042 + Missense_Mutation SNP C C T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_152397.2 -1 validated p.R161H 0.204 71 0% 88 34.1% 0 - benign(0.005) tolerated(1) - superfamily_P-loop containing nucleoside triphosphate hydrolases CACNA1D 776 genome.wustl.edu 37 3 53757617 53757617 + Frame_Shift_Del DEL A A - novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_000720.2 +1 validated p.I629fs 0.998 - - - - - - - - - HMMPfam_Ion_trans,superfamily_SSF81324 FOXP1 27086 genome.wustl.edu 37 3 71008527 71008527 + Silent SNP G G C novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_032682.4 -1 reviewed p.V635 1.000 429 0% 384 18% 2 0% - - - NULL HTR1F 3355 genome.wustl.edu 37 3 88040092 88040092 + Missense_Mutation SNP C C A novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_000866.3 +1 validated p.L65I 1.000 299 0% 320 19.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 COL6A5 256076 genome.wustl.edu 37 3 130189788 130189788 + Silent SNP C C T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e ENST00000512836 +1 known p.R769W 0.000 213 0% 424 16.5% 0 - - - - NULL IGSF10 285313 genome.wustl.edu 37 3 151166050 151166050 + Silent SNP G G A rs193019990 by1000genomes TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_178822.4 -1 validated p.V573 0.000 169 0.6% 296 29.1% 0 - - - - HMMPfam_I-set MME 4311 genome.wustl.edu 37 3 154802023 154802023 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_000902.3 +1 reviewed p.R23* 0.674 233 0% 271 26.2% 1 0% - - - NULL GABRA4 2557 genome.wustl.edu 37 4 46930659 46930659 + Silent SNP A A C novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_000809.2 -1 reviewed p.V416 0.000 161 0% 109 29.4% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM STATH 6779 genome.wustl.edu 37 4 70864185 70864185 + Missense_Mutation SNP G G T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_003154.2 +1 validated p.A11S 0.287 545 0% 484 27.7% 0 - unknown(0) - - NULL PRDM9 56979 genome.wustl.edu 37 5 23522864 23522864 + Nonsense_Mutation SNP C C G novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_020227.2 +1 provisional p.S251* 0.734 228 0% 134 13.4% 0 - - - - HMMSmart_SET,superfamily_SSF82199 CHD1 1105 genome.wustl.edu 37 5 98215304 98215304 + Silent SNP T T C novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_001270.2 -1 reviewed p.E1063 1.000 575 0% 661 44.8% 2 0% - - - NULL TRPC7 57113 genome.wustl.edu 37 5 135692560 135692560 + Silent SNP C C T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e ENST00000378459 -1 known p.A172T 0.831 132 0% 49 20.4% 0 - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat PCDHB14 56122 genome.wustl.edu 37 5 140604566 140604566 + Missense_Mutation SNP C C G novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_018934.2 +1 reviewed p.H497D 0.001 110 0% 33 27.3% 4 25% benign(0) tolerated(0.63) neutral(0.004) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin SASH1 23328 genome.wustl.edu 37 6 148840937 148840944 + Frame_Shift_Del DEL TTCTCCTA TTCTCCTA - novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 TTCTCCTA TTCTCCTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_015278.3 +1 validated p.F373fs 1.000:1.000:1.000:1.000:1.000:0.998:0.999:0.969 - - - - - - - - - NULL SNX13 23161 genome.wustl.edu 37 7 17873740 17873740 + Missense_Mutation SNP C C T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_015132.4 -1 reviewed p.R511H 1.000 251 0% 323 33.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS LOC100289506 100289506 genome.wustl.edu 37 7 75958842 75958842 + Silent SNP A A G novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e XM_002342770.1 +1 model p.K90 1.000 41 0% 25 32% 2 0% - - - NULL AKAP9 10142 genome.wustl.edu 37 7 91667845 91667845 + Missense_Mutation SNP A A C novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_005751.4 +1 reviewed p.E1484A 0.013 181 0% 256 17.6% 0 - probably_damaging(0.98) tolerated(0.23) neutral(0.465) NULL COL1A2 1278 genome.wustl.edu 37 7 94039751 94039751 + Missense_Mutation SNP G G T rs72658104 TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_000089.3 +1 reviewed p.G370V 1.000 95 0% 89 20.2% 16 0% unknown(0) deleterious(0) - HMMPfam_Collagen ZC3HAV1 56829 genome.wustl.edu 37 7 138764804 138764804 + Missense_Mutation SNP G G A novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_020119.3 -1 reviewed p.R295C 0.020 95 0% 38 26.3% 2 50% probably_damaging(0.954) deleterious(0.04) deleterious(0.746) NULL OR2A2 442361 genome.wustl.edu 37 7 143807190 143807190 + Missense_Mutation SNP A A G novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_001005480.2 +1 validated p.D172G 0.000 242 0% 170 10.6% 0 - benign(0.023) tolerated(0.16) neutral(0.060) HMMPfam_7tm_1,superfamily_SSF81321 GIMAP5 55340 genome.wustl.edu 37 7 150439564 150439564 + Missense_Mutation SNP G G A novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_018384.3 +1 reviewed p.V113I 0.963 113 0% 83 14.5% 4 0% possibly_damaging(0.487) deleterious(0.05) deleterious(0.507) HMMPfam_AIG1,superfamily_P-loop containing nucleoside triphosphate hydrolases FGFR1 2260 genome.wustl.edu 37 8 38272092 38272092 + Missense_Mutation SNP G G C novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_023110.2 -1 reviewed p.T678S 1.000 134 0% 200 65% 21 61.9% possibly_damaging(0.904) deleterious(0.04) deleterious(0.708) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) MIR124-2 406908 genome.wustl.edu 37 8 65291774 65291774 + RNA SNP C C T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e ENST00000385081 +1 known NULL 1.000 189 0% 124 20.2% 0 - - - - - CRISPLD1 83690 genome.wustl.edu 37 8 75929321 75929321 + Missense_Mutation SNP A A T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_031461.4 +1 validated p.K323N 1.000 457 0% 711 19.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LCCL,HMMSmart_SM00603,superfamily_LCCL domain TAF1L 138474 genome.wustl.edu 37 9 32633297 32633297 + Missense_Mutation SNP C C G novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_153809.2 -1 provisional p.A761P 0.983 721 0% 586 30.2% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL PRKCQ 5588 genome.wustl.edu 37 10 6553040 6553040 + Missense_Mutation SNP C C G novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_006257.2 -1 reviewed p.V79L 0.401 510 0% 367 24.3% 0 - benign(0) tolerated(0.42) neutral(0.014) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ITIH5 80760 genome.wustl.edu 37 10 7621858 7621858 + Silent SNP G G A novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_030569.5 -1 validated p.A426 0.035 217 0% 109 19.3% 0 - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like PTEN 5728 genome.wustl.edu 37 10 89692895 89692895 + Missense_Mutation SNP G G A novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e ENST00000371953 +1 known p.G127R 1.000 391 0% 531 35.8% 3 33.3% 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 89692911 89692911 + Missense_Mutation SNP G G A rs121909241 TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e ENST00000371953 +1 known p.G132D 1.000 362 0% 496 40.9% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PNLIP 5406 genome.wustl.edu 37 10 118315631 118315631 + Splice_Site SNP G G A novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_000936.2 +1 reviewed e8+1 1.000 283 0% 369 16.5% 0 - - - - - CPXM2 119587 genome.wustl.edu 37 10 125558682 125558682 + Silent SNP C C A novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_198148.2 -1 validated p.V229 1.000 168 0% 195 24.1% 0 - - - - HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like C10orf137 26098 genome.wustl.edu 37 10 127431671 127431672 + Frame_Shift_Del DEL CT CT - novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_015608.2 +1 validated p.S773fs 1.000:1.000 - - - - - - - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1271237 1271237 + Missense_Mutation SNP C C G novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_002458.1 +1 validated p.T4379S 0.003 416 0% 302 17.2% 2 0% unknown(0) - - NULL QSER1 79832 genome.wustl.edu 37 11 32956297 32956297 + Missense_Mutation SNP A A G novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_001076786.1 +1 provisional p.M1036V 0.000 229 0% 181 50.8% 1 0% benign(0) tolerated(0.61) neutral(0.004) NULL LOC399881 399881 genome.wustl.edu 37 11 43284632 43284632 + RNA SNP T T C novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e XR_040375.2 -1 model NULL 1.000 103 0% 94 21.3% 0 - - - - - PRG3 10394 genome.wustl.edu 37 11 57147230 57147230 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_006093.3 -1 validated p.Q38* 0.011 213 0% 136 30.1% 0 - - - - NULL PICALM 8301 genome.wustl.edu 37 11 85742581 85742581 + Missense_Mutation SNP G G C novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_007166.2 -1 validated p.T68S 1.000 353 0% 456 44.5% 1 0% benign(0) tolerated(0.2) neutral(0.049) superfamily_ENTH/VHS domain,HMMPfam_ANTH,HMMSmart_SM00273 ENSG00000204455 0 genome.wustl.edu 37 11 89595761 89595761 + Missense_Mutation SNP G G C novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e ENST00000311917 +1 known p.W364C 0.006 733 0% 656 9.3% 0 - - - - HMMPfam_SPRY BIRC2 329 genome.wustl.edu 37 11 102239216 102239216 + Missense_Mutation SNP C C G novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_001166.3 +1 reviewed p.L435V 1.000 285 0% 396 23.2% 6 16.6% possibly_damaging(0.848) tolerated(0.45) neutral(0.338) superfamily_SSF57924 CBL 867 genome.wustl.edu 37 11 119149250 119149250 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_005188.2 +1 reviewed p.R420* 1.000 237 0% 235 16.2% 0 - - - - superfamily_SSF57850 OR10G8 219869 genome.wustl.edu 37 11 123900556 123900556 + Missense_Mutation SNP T T G novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_001004464.1 +1 provisional p.V76G 0.991 602 0% 365 24.4% 0 - possibly_damaging(0.886) deleterious(0) deleterious(0.791) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PDE3A 5139 genome.wustl.edu 37 12 20782879 20782879 + Silent SNP C C T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_000921.3 +1 validated p.C526 0.991 222 0% 177 25.4% 0 - - - - NULL LETMD1 25875 genome.wustl.edu 37 12 51451840 51451840 + Missense_Mutation SNP C C G novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_015416.3 +1 validated p.S314C 1.000 418 0% 492 18.9% 15 13.3% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) HMMPfam_LETM1 OR4K15 81127 genome.wustl.edu 37 14 20444323 20444323 + Missense_Mutation SNP A A T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_001005486.1 +1 provisional p.T216S 0.979 396 0% 402 48.3% 0 - benign(0.182) tolerated(0.08) neutral(0.317) HMMPfam_7tm_1,superfamily_SSF81321 NYNRIN 57523 genome.wustl.edu 37 14 24879060 24879060 + Missense_Mutation SNP C C T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_025081.2 +1 validated p.P687L 0.033 134 0% 91 31.9% 0 - possibly_damaging(0.95) tolerated(0.06) deleterious(0.716) NULL RBM25 58517 genome.wustl.edu 37 14 73572944 73572944 + Missense_Mutation SNP G G A novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_021239.2 +1 validated p.R473Q 0.989 57 1.8% 161 13.7% 74 18.9% unknown(0) deleterious(0.03) - NULL SORD 6652 genome.wustl.edu 37 15 45357499 45357499 + Silent SNP C C T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_003104.4 +1 validated p.G152 0.979 160 0% 65 26.2% 2 0% - - - superfamily_GroES-like,superfamily_NAD(P)-binding Rossmann-fold domains LOC100288617 100288617 genome.wustl.edu 37 17 1481612 1481612 + Missense_Mutation SNP G G C novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e XM_002343497.1 +1 model p.E292Q 0.990 130 0% 63 65.1% 4 0% - - - NULL TP53 7157 genome.wustl.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C rs121912666 TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_000546.4 -1 reviewed p.Y220C 0.998 340 0% 194 58.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_p53-like transcription factors,HMMPfam_P53 DDX5 1655 genome.wustl.edu 37 17 62496727 62496742 + Frame_Shift_Del DEL GAAGCACAGAGATAAG GAAGCACAGAGATAAG - novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 GAAGCACAGAGATAAG GAAGCACAGAGATAAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_004396.3 -1 validated p.L456fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SLC9A3R1 9368 genome.wustl.edu 37 17 72763099 72763099 + Missense_Mutation SNP A A G novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_004252.3 +1 reviewed p.N261S 1.000 320 0% 196 69.4% 5 40% benign(0.052) deleterious(0.03) neutral(0.367) NULL SLC16A5 9121 genome.wustl.edu 37 17 73096192 73096192 + Missense_Mutation SNP C C T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_004695.2 +1 provisional p.S145L 1.000 50 0% 21 81% 8 100% probably_damaging(0.999) tolerated(0.21) deleterious(0.534) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter KRI1 65095 genome.wustl.edu 37 19 10664793 10664793 + Missense_Mutation SNP C C T rs190575647 by1000genomes TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_023008.3 -1 validated p.R655Q 0.001 85 0% 68 16.2% 39 17.9% benign(0.003) tolerated(0.18) neutral(0.056) NULL SMARCA4 6597 genome.wustl.edu 37 19 11098590 11098590 + Missense_Mutation SNP C C T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_001128849.1 +1 reviewed p.R370C 1.000 38 0% 16 43.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF737 100129842 genome.wustl.edu 37 19 20728207 20728207 + Missense_Mutation SNP G G A novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e XM_002343624.1 -1 model p.R268C 0.001 148 0% 165 18.2% 0 - benign(0.08) tolerated(0.2) neutral(0.054) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CYP2A7P1 1550 genome.wustl.edu 37 19 41531558 41531559 + Frame_Shift_Ins INS - - C novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e ENST00000301171 -1 known p.L198fs 0.367:0.372 - - - - - - - - - HMMPfam_p450,superfamily_Cytochrome_P450 ZNF665 79788 genome.wustl.edu 37 19 53668354 53668354 + Silent SNP G G A novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_024733.3 -1 provisional p.C463 0.568 233 0% 171 23.4% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SYT5 6861 genome.wustl.edu 37 19 55685989 55685989 + Missense_Mutation SNP C C A novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_003180.2 -1 validated p.G286C 1.000 324 0% 267 21.3% 1 100% probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB C20orf96 140680 genome.wustl.edu 37 20 264603 264603 + Splice_Site SNP C C A rs188822360 by1000genomes TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_153269.1 -1 predicted e4+1 0.501 408 0% 355 14.9% 0 - - - - - C20orf96 140680 genome.wustl.edu 37 20 264604 264604 + Missense_Mutation SNP C C G novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_153269.1 -1 predicted p.K102N 0.477 426 0% 367 15.3% 3 0% possibly_damaging(0.916) deleterious(0.02) deleterious(0.750) NULL XKR7 343702 genome.wustl.edu 37 20 30584762 30584762 + Silent SNP G G A novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_001011718.1 +1 provisional p.S414 0.557 138 0% 82 15.9% 0 - - - - HMMPfam_XK-related EFCAB8 388795 genome.wustl.edu 37 20 31496183 31496183 + Missense_Mutation SNP G G A novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e ENST00000440534 +1 known p.E471K 0.033 288 0.3% 179 25.1% 0 - - - - superfamily_WD40 repeat-like EYA2 2139 genome.wustl.edu 37 20 45702842 45702843 + Frame_Shift_Del DEL TA TA - novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_005244.4 +1 reviewed p.Y177fs 1.000:1.000 - - - - - - - - - NULL SBF1 6305 genome.wustl.edu 37 22 50899673 50899673 + Missense_Mutation SNP A A G novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_002972.2 -1 validated p.L961P 1.000 63 0% 35 31.4% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_GRAM,HMMSmart_SM00568,superfamily_PH domain-like ENSG00000211459 0 genome.wustl.edu 37 MT 1401 1401 + RNA SNP G G A novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e ENST00000389680 +1 known NULL NULL 5 0.000 41 0.976 3658 72.5% - - - - MED14 9282 genome.wustl.edu 37 X 40513707 40513707 + Silent SNP G G A novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_004229.3 -1 reviewed p.D1400 1.000 324 0% 338 19.5% 8 0% - - - NULL CXorf67 340602 genome.wustl.edu 37 X 51151101 51151101 + Silent SNP C C G novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e ENST00000342995 +1 known p.P411 0.959 178 0% 82 12.2% 0 - - - - NULL SLC7A3 84889 genome.wustl.edu 37 X 70145999 70145999 + Missense_Mutation SNP C C G novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_001048164.2 -1 reviewed p.M550I 1.000 251 0% 246 18.3% 0 - benign(0) tolerated(0.25) neutral(0.037) NULL RPS6KA6 27330 genome.wustl.edu 37 X 83351250 83351250 + Silent SNP T T C novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_014496.4 -1 reviewed p.K641 0.997 338 0% 356 28.1% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase IL13RA1 3597 genome.wustl.edu 37 X 117907841 117907841 + Splice_Site DEL G G - novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_001560.2 +1 reviewed e9-1 0.938 - - - - - - - - - - LOC392555 392555 genome.wustl.edu 37 X 141261299 141261299 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e XM_002343852.1 -1 model p.E210* 0.001 65 0% 57 24.6% 0 - - - - HMMPfam_MAGE IRAK1 3654 genome.wustl.edu 37 X 153281962 153281962 + Missense_Mutation SNP G G T novel TCGA-BS-A0V8-01A-11D-A122-09 TCGA-BS-A0V8-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d4cb709-c95c-4bdc-844b-c0bfa2a3028e 332a9df3-3816-4ba2-9c2a-732e0895294e NM_001569.3 -1 reviewed p.L388M 1.000 74 0% 40 17.5% 1 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase