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 CCNL2 81669 genome.wustl.edu 37 1 1330849 1330849 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_030937.4 -1 validated p.K173N 1.000 240 0% 342 16.1% 9 44.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like CALML6 163688 genome.wustl.edu 37 1 1848510 1848510 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_138705.2 +1 validated p.E166K 0.952 58 0% 77 14.3% 4 25% possibly_damaging(0.896) deleterious(0) deleterious(0.798) HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473 ACTRT2 140625 genome.wustl.edu 37 1 2939361 2939361 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_080431.4 +1 reviewed p.V371M 0.979 101 0% 114 18.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain TARDBP 23435 genome.wustl.edu 37 1 11082428 11082428 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_007375.3 +1 reviewed p.A321G 1.000 207 0% 243 13.6% 7 28.5% probably_damaging(0.996) tolerated(0.14) deleterious(0.711) NULL EIF4G3 8672 genome.wustl.edu 37 1 21268676 21268676 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_003760.3 -1 validated p.P268R 0.948 207 0% 291 15.5% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KHDRBS1 10657 genome.wustl.edu 37 1 32497169 32497169 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_006559.1 +1 provisional p.I184M 1.000 286 0% 309 14.9% 8 12.5% benign(0.202) tolerated(0.22) neutral(0.061) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) KPNA6 23633 genome.wustl.edu 37 1 32636421 32636421 + Missense_Mutation SNP C C A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_012316.4 +1 reviewed p.P513T 1.000 112 0% 151 11.9% 3 33.3% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL CDCA8 55143 genome.wustl.edu 37 1 38168962 38168962 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_018101.2 +1 validated p.R176Q 0.308 156 0% 169 14.2% 3 0% probably_damaging(1) tolerated(0.2) deleterious(0.549) HMMPfam_Borealin ATPAF1-AS1 374973 genome.wustl.edu 37 1 47139068 47139068 + Silent SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001145474.1 +1 predicted p.L187 0.152 145 0% 217 15.2% 0 - - - - NULL PCSK9 255738 genome.wustl.edu 37 1 55509543 55509543 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_174936.2 +1 reviewed p.V79M 0.094 48 0% 100 40% 0 - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) superfamily_Protease propeptides/inhibitors,HMMPfam_Inhibitor_I9 STXBP3 6814 genome.wustl.edu 37 1 109294878 109294878 + Splice_Site SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_007269.2 +1 validated e2-1 1.000 386 0% 380 17.9% 0 - - - - - PROK1 84432 genome.wustl.edu 37 1 110998908 110998908 + Missense_Mutation SNP C C A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_032414.2 +1 validated p.L85M 0.999 139 0% 123 17.9% 0 - benign(0.134) tolerated(0.29) neutral(0.041) HMMPfam_Prokineticin,superfamily_SSF57190 FAM63A 55793 genome.wustl.edu 37 1 150969844 150969844 + Splice_Site SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_018379.4 -1 validated e9-1 1.000 46 0% 80 20% 0 - - - - - ATP1A2 477 genome.wustl.edu 37 1 160100375 160100375 + Silent SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 ENST00000447527 +1 known p.A316V 0.668 104 0% 234 25.6% 0 - - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M DDR2 4921 genome.wustl.edu 37 1 162749975 162749975 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001014796.1 +1 reviewed p.T836M 1.000 280 0% 675 52.4% 2 100% probably_damaging(0.961) tolerated(0.11) deleterious(0.675) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like DCAF6 55827 genome.wustl.edu 37 1 168012310 168012310 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_018442.2 +1 validated p.S535C 0.915 233 0% 439 10.9% 8 0% probably_damaging(0.962) deleterious(0) deleterious(0.850) superfamily_WD40_like METTL11B 149281 genome.wustl.edu 37 1 170136817 170136817 + Silent SNP G G T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001136107.1 +1 validated p.L257 1.000 73 0% 206 17% 0 - - - - HMMPfam_DUF858,superfamily_SSF53335 METTL13 51603 genome.wustl.edu 37 1 171753612 171753612 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_015935.4 +1 validated p.R296W 1.000 8 0.000 20 0.850 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CACNA1E 777 genome.wustl.edu 37 1 181741296 181741296 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_000721.2 +1 reviewed p.E1690K 0.986 148 0% 150 43.3% 0 - benign(0.244) tolerated(0.9) neutral(0.025) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels KDM5B 10765 genome.wustl.edu 37 1 202699097 202699097 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_006618.3 -1 validated p.R1412T 0.998 341 0% 286 38.8% 10 90% probably_damaging(0.978) tolerated(0.11) deleterious(0.692) NULL TMEM81 388730 genome.wustl.edu 37 1 205052752 205052752 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_203376.1 -1 validated p.A233T 0.000 282 0% 359 40.7% 4 75% benign(0.079) deleterious(0) neutral(0.450) NULL TARBP1 6894 genome.wustl.edu 37 1 234603315 234603315 + Missense_Mutation SNP T T C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_005646.3 -1 reviewed p.E394G 1.000 452 0% 801 45.8% 2 100% probably_damaging(0.963) tolerated(0.32) neutral(0.430) NULL OR2T12 127064 genome.wustl.edu 37 1 248458633 248458633 + Missense_Mutation SNP T T C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001004692.1 -1 provisional p.Y83C 0.000 309 0.3% 472 10% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 GEN1 348654 genome.wustl.edu 37 2 17959309 17959309 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001130009.1 +1 validated p.E415Q 1.000 357 0% 322 15.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TTC27 55622 genome.wustl.edu 37 2 32897423 32897423 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_017735.3 +1 provisional p.E342Q 1.000 371 0% 493 15.2% 3 0% probably_damaging(0.997) deleterious(0.04) deleterious(0.815) NULL POU3F3 5455 genome.wustl.edu 37 2 105473057 105473057 + Silent SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_006236.1 +1 provisional p.F363 1.000 53 0% 52 19.2% 0 - - - - HMMPfam_Pou,HMMSmart_POU,PatternScan_POU_2,superfamily_Lambda_like_DNA BCL2L11 10018 genome.wustl.edu 37 2 111881573 111881573 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_138621.3 +1 reviewed p.R84T 1.000 155 0% 185 16.8% 3 0% benign(0.176) deleterious(0) neutral(0.461) NULL PAX8 7849 genome.wustl.edu 37 2 113977702 113977702 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_003466.3 -1 reviewed p.E415K 1.000 59 0% 69 17.4% 99 33.3% possibly_damaging(0.875) deleterious(0.01) deleterious(0.746) NULL CLASP1 23332 genome.wustl.edu 37 2 122205895 122205895 + Silent SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 ENST00000452274 -1 known p.R347H 0.716 137 0% 165 15.8% 0 - - - - NULL LOC653781 653781 genome.wustl.edu 37 2 131414782 131414782 + Missense_Mutation SNP G G T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 XM_929706.3 +1 model p.D817Y 1.000 114 0% 133 15% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain YSK4 80122 genome.wustl.edu 37 2 135738488 135738488 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_025052.3 -1 validated p.A1275T 1.000 94 0% 103 55.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase COBLL1 22837 genome.wustl.edu 37 2 165548759 165548759 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_014900.3 -1 validated p.S1129L 1.000 275 0% 321 45.5% 9 66.6% possibly_damaging(0.832) deleterious(0) deleterious(0.762) NULL SCN7A 6332 genome.wustl.edu 37 2 167284451 167284451 + Silent SNP A A T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_002976.2 -1 validated p.G900 0.015 260 0% 235 15.7% 0 - - - - NULL GPR155 151556 genome.wustl.edu 37 2 175338026 175338026 + Missense_Mutation SNP G G T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001033045.2 -1 validated p.S176Y 1.000 108 0% 98 48% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Mem_trans TTN 7273 genome.wustl.edu 37 2 179413968 179413968 + Silent SNP G G T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_133378.4 -1 reviewed p.S28227* 1.000 309 0% 349 14% 1 0% - - - NULL CWC22 57703 genome.wustl.edu 37 2 180830686 180830686 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_020943.2 -1 validated p.D412N 1.000 391 0% 495 45.1% 1 0% benign(0.315) tolerated(0.08) neutral(0.398) NULL CLK1 1195 genome.wustl.edu 37 2 201725997 201725997 + Missense_Mutation SNP C C A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_004071.3 -1 reviewed p.R118S 0.927 170 0% 211 12.8% 5 80% benign(0.304) tolerated(0.26) neutral(0.129) NULL UNC80 285175 genome.wustl.edu 37 2 210696226 210696226 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_032504.1 +1 validated p.V896M 1.000 212 0% 254 15.7% 0 - benign(0.003) tolerated(0.16) neutral(0.059) NULL CRYBA2 1412 genome.wustl.edu 37 2 219856919 219856919 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_005209.1 -1 reviewed p.L70V 1.000 40 0% 57 19.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Crystall,HMMSmart_SM00247,superfamily_gamma-Crystallin-like STK16 8576 genome.wustl.edu 37 2 220112181 220112181 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001008910.2 +1 validated p.P162L 1.000 205 0% 242 16.1% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like,HMMPfam_Pkinase RNPEPL1 57140 genome.wustl.edu 37 2 241514979 241514979 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_018226.3 +1 provisional p.L257V 1.000 60 0% 60 13.3% 7 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_SSF55486 HDLBP 3069 genome.wustl.edu 37 2 242174929 242174929 + Silent SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 ENST00000373292 -1 known p.P804S 0.997 176 0% 213 19.2% 60 21.6% - - - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) GRM7 2917 genome.wustl.edu 37 3 7620807 7620807 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_181874.2 +1 reviewed p.M738I 1.000 297 0% 394 25.9% 0 - benign(0) tolerated(0.3) neutral(0.029) HMMPfam_7tm_3 GORASP1 64689 genome.wustl.edu 37 3 39142358 39142358 + Missense_Mutation SNP A A T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_031899.2 -1 reviewed p.F149Y 1.000 59 0% 83 33.7% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) superfamily_PDZ domain-like,HMMPfam_GRASP55_65 GORASP1 64689 genome.wustl.edu 37 3 39142359 39142359 + Missense_Mutation SNP A A C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_031899.2 -1 reviewed p.F149V 1.000 60 0% 82 32.9% 0 - possibly_damaging(0.945) deleterious(0.04) deleterious(0.738) superfamily_PDZ domain-like,HMMPfam_GRASP55_65 QRICH1 54870 genome.wustl.edu 37 3 49083879 49083879 + Silent SNP A A G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_017730.2 -1 validated p.Y550 0.998 204 0% 261 19.5% 1 100% - - - NULL DOCK3 1795 genome.wustl.edu 37 3 51317617 51317617 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_004947.3 +1 validated p.Q968H 1.000 163 0% 204 13.2% 0 - benign(0.002) tolerated(0.19) neutral(0.050) NULL ENSG00000173366 0 genome.wustl.edu 37 3 52257063 52257063 + Silent SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 ENST00000494383 -1 known p.G577R 0.001 25 0% 26 19.2% 0 - - - - HMMSmart_SM00369,superfamily_L domain-like OR5AC2 81050 genome.wustl.edu 37 3 97806157 97806157 + Silent SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_054106.1 +1 provisional p.L47 0.303 557 0.2% 622 16.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 POLQ 10721 genome.wustl.edu 37 3 121217405 121217405 + Missense_Mutation SNP T T G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_199420.3 -1 validated p.E691A 1.000 282 0.4% 337 15.4% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL XRN1 54464 genome.wustl.edu 37 3 142151663 142151663 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_019001.3 -1 validated p.D50N 1.000 187 0% 232 12.9% 1 0% benign(0.004) tolerated(0.26) neutral(0.034) HMMPfam_XRN_N CHST2 9435 genome.wustl.edu 37 3 142840368 142840368 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_004267.3 +1 validated p.A237V 0.990 14 0% 27 22.2% 17 5.8% possibly_damaging(0.85) tolerated(0.39) neutral(0.343) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases HLTF 6596 genome.wustl.edu 37 3 148757825 148757825 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_003071.3 -1 reviewed p.S832N 1.000 562 0% 1047 12.8% 5 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_P-loop containing nucleoside triphosphate hydrolases SUCNR1 56670 genome.wustl.edu 37 3 151599065 151599065 + Missense_Mutation SNP T T C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_033050.4 +1 reviewed p.F245S 1.000 238 0% 619 15.3% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_7tm_1,superfamily_SSF81321 PLCH1 23007 genome.wustl.edu 37 3 155199315 155199315 + Silent SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001130960.1 -1 validated p.E1508 0.961 112 0% 318 19.8% 0 - - - - NULL SI 6476 genome.wustl.edu 37 3 164700076 164700076 + Silent SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001041.3 -1 reviewed p.N1790 0.000 460 0% 747 17.8% 0 - - - - NULL ZCCHC4 29063 genome.wustl.edu 37 4 25351206 25351206 + Silent SNP A A G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 ENST00000505412 +1 known p.T149A 1.000 296 0% 285 17.2% 0 - - - - NULL EPHA5 2044 genome.wustl.edu 37 4 66467826 66467826 + Missense_Mutation SNP T T G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_004439.5 -1 reviewed p.K148T 1.000 156 0% 135 17% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like GC 2638 genome.wustl.edu 37 4 72622488 72622488 + Missense_Mutation SNP A A C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_000583.2 -1 reviewed p.D325E 0.000 264 0% 232 21.1% 0 - benign(0) tolerated(1) - superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 ADAMTS3 9508 genome.wustl.edu 37 4 73414570 73414570 + Silent SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_014243.1 -1 reviewed p.E43 1.000 172 0% 140 21.4% 0 - - - - HMMPfam_Pep_M12B_propep ALB 213 genome.wustl.edu 37 4 74285267 74285267 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_000477.5 +1 reviewed p.E566Q 0.268 147 0% 153 22.2% 0 - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 FAT4 79633 genome.wustl.edu 37 4 126371162 126371162 + Missense_Mutation SNP G G T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_024582.4 +1 validated p.K2997N 0.008 97 0% 87 18.4% 0 - benign(0.116) tolerated(0.5) neutral(0.019) HMMPfam_Cadherin,superfamily_Cadherin-like LRAT 9227 genome.wustl.edu 37 4 155665715 155665715 + Missense_Mutation SNP G G T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_004744.3 +1 reviewed p.L79F 0.995 93 0% 85 12.9% 0 - possibly_damaging(0.749) tolerated(0.08) deleterious(0.575) NULL ODZ3 55714 genome.wustl.edu 37 4 183658093 183658093 + Missense_Mutation SNP G G T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001080477.1 +1 provisional p.V1034F 1.000 315 0% 222 18% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ConA_like_lec_gl PRDM9 56979 genome.wustl.edu 37 5 23526561 23526561 + Missense_Mutation SNP A A G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_020227.2 +1 provisional p.E455G 0.054 272 0.4% 308 14.3% 0 - benign(0.224) deleterious(0.04) neutral(0.371) NULL UGT3A2 167127 genome.wustl.edu 37 5 36037922 36037922 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_174914.3 -1 validated p.M424I 0.997 266 0% 378 16.7% 0 - benign(0.256) tolerated(0.06) neutral(0.349) HMMPfam_UDPGT,superfamily_SSF53756 LRRC70 100130733 genome.wustl.edu 37 5 61877098 61877098 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_181506.4 +1 validated p.E611D 1.000 209 0% 131 16.8% 0 - possibly_damaging(0.459) tolerated(0.62) neutral(0.154) NULL HOMER1 9456 genome.wustl.edu 37 5 78734879 78734879 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_004272.3 -1 validated p.E161Q 1.000 322 0% 415 17.3% 0 - benign(0.069) tolerated(0.21) neutral(0.048) NULL ENSG00000244801 0 genome.wustl.edu 37 5 79286107 79286107 + RNA SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 ENST00000499230 +1 novel NULL 0.000 257 0% 239 17.2% 0 - - - - - ZFYVE16 9765 genome.wustl.edu 37 5 79746393 79746393 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001105251.1 +1 validated p.D1124N 1.000 337 0% 284 13.4% 0 - probably_damaging(0.99) tolerated(0.28) deleterious(0.473) NULL RASGRF2 5924 genome.wustl.edu 37 5 80408520 80408520 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_006909.1 +1 validated p.V644M 1.000 255 0% 305 18% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_RasGEF_N,HMMSmart_SM00229,superfamily_Ras GEF GPR98 84059 genome.wustl.edu 37 5 89923430 89923430 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_032119.3 +1 reviewed p.H359Y 1.000 199 0% 225 12.4% 0 - benign(0.198) tolerated(0.2) neutral(0.068) NULL SEC24A 10802 genome.wustl.edu 37 5 134015363 134015363 + Silent SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_021982.1 +1 validated p.V442 1.000 398 0% 399 29.8% 1 0% - - - HMMPfam_zf-Sec23_Sec24,superfamily_beta-sandwich domain of Sec23/24 PKD2L2 27039 genome.wustl.edu 37 5 137235387 137235387 + Missense_Mutation SNP C C A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_014386.2 +1 validated p.S236Y 1.000 170 0% 155 12.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PKD_channel MATR3 9782 genome.wustl.edu 37 5 138658390 138658390 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_018834.4 +1 reviewed p.E628Q 1.000 299 0% 351 14% 23 17.3% probably_damaging(0.996) tolerated(0.05) deleterious(0.807) NULL TMEM173 340061 genome.wustl.edu 37 5 138857033 138857033 + Missense_Mutation SNP T T G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_198282.2 -1 validated p.Q276P 0.168 79 0% 112 17.9% 8 25% benign(0.003) tolerated(0.28) neutral(0.032) NULL PDE6A 5145 genome.wustl.edu 37 5 149247336 149247336 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_000440.2 -1 reviewed p.F742L 1.000 106 0% 99 16.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDEase_I,superfamily_SSF109604 FARS2 10667 genome.wustl.edu 37 6 5545520 5545520 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_006567.3 +1 reviewed p.R338C 1.000 201 0% 246 34.6% 4 50% probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_tRNA-synt_2d,superfamily_SSF55681 MYLIP 29116 genome.wustl.edu 37 6 16142016 16142016 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_013262.3 +1 reviewed p.E147Q 1.000 76 0% 121 24.8% 1 0% probably_damaging(0.955) tolerated(0.06) deleterious(0.721) HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 HIST1H3I 8354 genome.wustl.edu 37 6 27839854 27839854 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_003533.2 -1 reviewed p.K80N 1.000 123 0% 146 13% 0 - possibly_damaging(0.928) - - HMMSmart_SM00428,HMMPfam_Histone,superfamily_Histone-fold MRPS18B 28973 genome.wustl.edu 37 6 30587758 30587758 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_014046.3 +1 reviewed p.D116H 0.984 348 0% 465 11.6% 6 16.6% probably_damaging(1) tolerated(0.45) deleterious(0.512) HMMPfam_Ribosomal_S18,superfamily_Ribosomal protein S18 UBR2 23304 genome.wustl.edu 37 6 42583818 42583818 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_015255.2 +1 reviewed p.R391P 1.000 544 0% 483 34.8% 0 - possibly_damaging(0.931) tolerated(0.33) neutral(0.402) NULL TAAR6 319100 genome.wustl.edu 37 6 132891957 132891957 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_175067.1 +1 reviewed p.A166V 0.345 192 0% 339 11.5% 0 - benign(0.245) tolerated(0.09) neutral(0.322) HMMPfam_7tm_1,superfamily_SSF81321 PACRG 135138 genome.wustl.edu 37 6 163510311 163510311 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_152410.2 +1 reviewed p.R162* 1.000 226 0% 217 15.7% 1 0% - - - HMMPfam_ParcG AMPH 273 genome.wustl.edu 37 7 38424475 38424475 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001635.2 -1 reviewed p.D678H 1.000 198 0% 187 15% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_SM00326,superfamily_SH3-domain POU6F2 11281 genome.wustl.edu 37 7 39446278 39446278 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_007252.3 +1 reviewed p.G322A 1.000 107 0% 130 13.1% 0 - probably_damaging(0.998) tolerated(0.22) deleterious(0.516) NULL ABCA13 154664 genome.wustl.edu 37 7 48278959 48278959 + Missense_Mutation SNP A A T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_152701.3 +1 reviewed p.N340I 0.008 121 0% 132 16.7% 0 - probably_damaging(0.98) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48494654 48494654 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_152701.3 +1 reviewed p.A4196T 0.000 10 0% 14 50% 0 - benign(0.072) - - NULL IFRD1 3475 genome.wustl.edu 37 7 112112380 112112380 + Nonsense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001007245.1 +1 validated p.S383* 0.999 234 0% 391 15.1% 35 22.8% - - - NULL EXOC4 60412 genome.wustl.edu 37 7 133689779 133689779 + Silent SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_021807.3 +1 reviewed p.I821 1.000 160 0.6% 258 11.2% 2 0% - - - NULL KEL 3792 genome.wustl.edu 37 7 142658564 142658564 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_000420.2 -1 reviewed p.V36M 0.000 61 0% 63 46% 0 - possibly_damaging(0.525) deleterious(0.04) deleterious(0.526) NULL ZNF425 155054 genome.wustl.edu 37 7 148801976 148801976 + Silent SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001001661.2 -1 validated p.P329 0.839 31 0% 48 16.7% 0 - - - - superfamily_SSF57667 GPR124 25960 genome.wustl.edu 37 8 37687409 37687409 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_032777.8 +1 validated p.R199C 1.000 23 0% 26 42.3% 0 - probably_damaging(0.966) tolerated(0.12) deleterious(0.668) HMMSmart_SM00082,superfamily_L domain-like FGFR1 2260 genome.wustl.edu 37 8 38281810 38281810 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_023107.2 -1 reviewed p.G296R 0.000 201 0% 241 16.2% 0 - - - - NULL KAT6A 7994 genome.wustl.edu 37 8 41798566 41798566 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001099412.1 -1 validated p.E945K 0.340 141 0% 535 34.6% 6 50% unknown(0) deleterious(0.02) - NULL KAT6A 7994 genome.wustl.edu 37 8 41798629 41798629 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001099412.1 -1 validated p.E924K 0.287 104 1% 390 40.3% 2 100% unknown(0) tolerated(0.07) - NULL HGSNAT 138050 genome.wustl.edu 37 8 43052825 43052825 + Missense_Mutation SNP C C G rs121908286 TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_152419.2 +1 reviewed p.S518C 1.000 334 0.3% 1011 72.1% 33 81.8% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_DUF2261 MTFR1 9650 genome.wustl.edu 37 8 66620266 66620266 + Missense_Mutation SNP T T A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 ENST00000424808 +1 known p.F318Y 0.000 114 0% 198 14.1% 0 - - - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77766535 77766535 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_024721.4 +1 validated p.G2415R 0.998 338 0.6% 427 13.6% 0 - probably_damaging(0.991) - - NULL C8orf83 286144 genome.wustl.edu 37 8 93898956 93898956 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 ENST00000378861 -1 known p.G52A 1.000 195 0% 254 23.6% 0 - possibly_damaging(0.865) tolerated(1) neutral(0.335) NULL KCNS2 3788 genome.wustl.edu 37 8 99441108 99441108 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_020697.2 +1 provisional p.R301W 0.998 233 0% 314 19.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ZFPM2 23414 genome.wustl.edu 37 8 106815683 106815683 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_012082.3 +1 reviewed p.D1125H 1.000 82 0% 99 17.2% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PKHD1L1 93035 genome.wustl.edu 37 8 110442239 110442239 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_177531.4 +1 validated p.L1068V 0.001 377 0% 437 17.4% 0 - benign(0) tolerated(0.39) neutral(0.016) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains CSMD3 114788 genome.wustl.edu 37 8 113694759 113694759 + Silent SNP T T A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_198123.1 -1 validated p.G863 0.998 305 0% 279 11.5% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain ZHX2 22882 genome.wustl.edu 37 8 123964349 123964349 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_014943.3 +1 reviewed p.P200R 0.996 162 0% 275 11.3% 1 0% possibly_damaging(0.924) tolerated(0.51) neutral(0.382) NULL WISP1 8840 genome.wustl.edu 37 8 134239804 134239804 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_003882.2 +1 reviewed p.D319N 0.002 222 0% 357 13.4% 2 0% benign(0) tolerated(0.42) neutral(0.014) HMMSmart_SM00041,PatternScan_CTCK_1,HMMPfam_Cys_knot FAM135B 51059 genome.wustl.edu 37 8 139163525 139163525 + Missense_Mutation SNP G G T rs35639744 TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_015912.3 -1 validated p.P1065T 1.000 99 0% 113 15.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM135B 51059 genome.wustl.edu 37 8 139209869 139209869 + Missense_Mutation SNP T T C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_015912.3 -1 validated p.H238R 0.993 118 0% 116 13.8% 0 - benign(0.288) tolerated(0.37) neutral(0.107) NULL DENND3 22898 genome.wustl.edu 37 8 142148179 142148179 + Silent SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_014957.2 +1 validated p.T68 0.149 182 0% 230 13% 1 100% - - - NULL IFNA5 3442 genome.wustl.edu 37 9 21305115 21305115 + Silent SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_002169.2 -1 validated p.I47 0.000 232 0% 192 20.3% 0 - - - - HMMPfam_Interferon,superfamily_4_helix_cytokine MAMDC2 256691 genome.wustl.edu 37 9 72741136 72741136 + Silent SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_153267.4 +1 validated p.I235 1.000 111 0% 131 15.3% 0 - - - - HMMPfam_MAM,HMMSmart_SM00137 HIATL1 84641 genome.wustl.edu 37 9 97221657 97221668 + In_Frame_Del DEL CATTTGAGGAGC CATTTGAGGAGC - novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 CATTTGAGGAGC CATTTGAGGAGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_032558.2 +1 validated p.FEEP496in_frame_del 0.976:0.836:0.845:0.818:0.822:0.969:0.991:0.992:1.000:1.000:1.000:1.000 - - - - - - - - - NULL HABP4 22927 genome.wustl.edu 37 9 99228000 99228000 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_014282.2 +1 validated p.R228T 0.267 361 0.3% 399 16.8% 4 0% possibly_damaging(0.911) deleterious(0.01) deleterious(0.768) HMMPfam_HABP4_PAI-RBP1 GALNT12 79695 genome.wustl.edu 37 9 101589078 101589078 + Missense_Mutation SNP A A C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_024642.3 +1 validated p.K196Q 1.000 111 0% 110 16.4% 1 0% benign(0.096) tolerated(0.29) neutral(0.036) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases SVEP1 79987 genome.wustl.edu 37 9 113208197 113208197 + Silent SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_153366.3 -1 validated p.D1461 0.808 220 0% 282 18.1% 0 - - - - HMMPfam_Pentaxin,HMMSmart_SM00159,superfamily_Concanavalin A-like lectins/glucanases PAPPA 5069 genome.wustl.edu 37 9 118950431 118950431 + Nonsense_Mutation SNP G G T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_002581.3 +1 reviewed p.E472* 1.000 60 1.7% 93 11.8% 0 - - - - HMMPfam_Notch,HMMSmart_NL,superfamily_SSF55486 TAF3 83860 genome.wustl.edu 37 10 8007250 8007250 + Nonsense_Mutation SNP A A T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_031923.2 +1 provisional p.K593* 0.994 75 0% 118 52.5% 7 42.8% - - - NULL MASTL 84930 genome.wustl.edu 37 10 27459029 27459029 + Missense_Mutation SNP A A C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_032844.3 +1 reviewed p.T381P 0.000 214 0% 323 18.3% 4 25% benign(0.001) tolerated(0.05) neutral(0.345) superfamily_Kinase_like PTCHD3 374308 genome.wustl.edu 37 10 27702678 27702678 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001034842.3 -1 validated p.E168K 0.997 47 0% 55 16.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Patched MAPK8 5599 genome.wustl.edu 37 10 49632163 49632163 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_139049.1 +1 reviewed p.E217Q 1.000 460 0% 390 18.2% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NPFFR1 64106 genome.wustl.edu 37 10 72025993 72025993 + Missense_Mutation SNP G G T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_022146.3 -1 validated p.S52Y 1.000 121 0% 175 30.9% 0 - possibly_damaging(0.924) tolerated(0.06) deleterious(0.696) NULL SLC29A3 55315 genome.wustl.edu 37 10 73082532 73082532 + Silent SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 ENST00000373189 +1 known p.D7 0.014 97 0% 110 20% 0 - - - - NULL KCNMA1 3778 genome.wustl.edu 37 10 78870005 78870005 + Missense_Mutation SNP C C A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001014797.2 -1 reviewed p.V353F 1.000 338 0% 311 17% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels WAPAL 23063 genome.wustl.edu 37 10 88260202 88260202 + Silent SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_015045.2 -1 validated p.D266 0.868 206 0% 197 15.7% 0 - - - - NULL BMPR1A 657 genome.wustl.edu 37 10 88672074 88672074 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_004329.2 +1 reviewed p.G203A 1.000 373 0% 331 16.9% 0 - probably_damaging(0.986) deleterious(0.04) deleterious(0.783) NULL TNKS2 80351 genome.wustl.edu 37 10 93572874 93572874 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_025235.3 +1 validated p.R112* 1.000 291 0% 362 16% 1 0% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK BTAF1 9044 genome.wustl.edu 37 10 93768955 93768955 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_003972.2 +1 validated p.E1365K 1.000 149 0% 176 17% 0 - benign(0.056) tolerated(0.2) neutral(0.053) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases PSD 5662 genome.wustl.edu 37 10 104176398 104176398 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_002779.3 -1 provisional p.S133C 0.359 25 0% 25 20% 0 - benign(0.015) deleterious(0) neutral(0.445) NULL NRAP 4892 genome.wustl.edu 37 10 115350503 115350503 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_198060.2 -1 validated p.R1597Q 0.506 146 0.7% 168 23.2% 1 0% possibly_damaging(0.814) deleterious(0.02) deleterious(0.691) HMMPfam_Nebulin SEC23IP 11196 genome.wustl.edu 37 10 121662334 121662334 + Silent SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 ENST00000442952 +1 known p.G6S 0.000 170 0% 145 22.1% 1 100% - - - NULL TCERG1L 256536 genome.wustl.edu 37 10 132902590 132902590 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_174937.3 -1 validated p.E475K 1.000 201 0% 226 13.7% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_FF,HMMSmart_FF,superfamily_FF MUC5B 727897 genome.wustl.edu 37 11 1272920 1272920 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_002458.1 +1 validated p.S4940C 0.005 92 0% 95 14.7% 0 - unknown(0) - - NULL TNNT3 7140 genome.wustl.edu 37 11 1955624 1955624 + Missense_Mutation SNP G G T rs184687090 by1000genomes TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_006757.3 +1 reviewed p.K143N 1.000 146 0% 220 19.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Troponin OR52K1 390036 genome.wustl.edu 37 11 4510319 4510319 + Silent SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001005171.2 +1 validated p.L63 0.554 307 0% 339 19.5% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52D1 390066 genome.wustl.edu 37 11 5510218 5510218 + Silent SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001005163.2 +1 validated p.E94 0.503 251 0% 259 16.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like AMBRA1 55626 genome.wustl.edu 37 11 46455108 46455108 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_017749.2 -1 validated p.R874S 1.000 88 0% 101 11.9% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL OR5W2 390148 genome.wustl.edu 37 11 55681674 55681674 + Missense_Mutation SNP G G T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001001960.1 -1 provisional p.P129T 0.830 84 0% 116 18.1% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_7tm_1,superfamily_SSF81321 GSTP1 2950 genome.wustl.edu 37 11 67353948 67353948 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 ENST00000398606 +1 known p.S178L 0.016 83 0% 119 14.3% 1937 28.7% benign(0.004) tolerated(0.06) neutral(0.323) HMMPfam_GST_C,superfamily_GST_C_like ANKRD42 338699 genome.wustl.edu 37 11 82938827 82938827 + Missense_Mutation SNP G G T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_182603.2 +1 validated p.D248Y 1.000 299 0% 274 40.5% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat VSTM5 387804 genome.wustl.edu 37 11 93554452 93554452 + Silent SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001144871.1 -1 validated p.I43 1.000 170 0% 184 22.3% 0 - - - - HMMSmart_IG,superfamily_SSF48726 DDI1 414301 genome.wustl.edu 37 11 103908489 103908489 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001001711.2 +1 validated p.F313L 1.000 267 0% 298 14.8% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) superfamily_Pept_Aspartic,HMMPfam_Asp_protease IL10RA 3587 genome.wustl.edu 37 11 117870360 117870360 + RNA SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NR_026691.1 +1 reviewed NULL 0.000 34 0% 22 22.7% 5 0% - - - - BCL9L 283149 genome.wustl.edu 37 11 118771612 118771612 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_182557.2 -1 validated p.S947L 0.999 147 0% 180 12.8% 2 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL NTM 50863 genome.wustl.edu 37 11 132016246 132016246 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001144058.1 +1 reviewed p.D80H 1.000 135 0% 155 20% 0 - possibly_damaging(0.561) tolerated(0.46) neutral(0.204) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 C1S 716 genome.wustl.edu 37 12 7170347 7170347 + Missense_Mutation SNP T T C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001734.3 +1 reviewed p.F123L 0.996 207 0% 262 33.2% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB TAS2R20 259295 genome.wustl.edu 37 12 11149555 11149555 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_176889.2 -1 validated p.S307L 0.001 159 0% 156 36.5% 0 - benign(0.016) tolerated(1) neutral(0.001) superfamily_SSF81321 ENSG00000183935 0 genome.wustl.edu 37 12 13153388 13153389 + In_Frame_Ins INS - - GCAGCAGTCCAGCAGGGCAGCAGT rs77117939 TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 ENST00000331998 +1 known p.129in_frame_insPAGQQCSS 0.055:0.003 - - - - - - - - - NULL SLCO1A2 6579 genome.wustl.edu 37 12 21445246 21445246 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_021094.3 -1 reviewed p.Q488E 0.155 175 0.6% 176 24.4% 0 - benign(0) tolerated(1) - HMMPfam_OATP,superfamily_MFS general substrate transporter RASSF8 11228 genome.wustl.edu 37 12 26220564 26220564 + Silent SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_007211.4 +1 validated p.F352 0.022 224 0% 256 19.5% 0 - - - - NULL PDZRN4 29951 genome.wustl.edu 37 12 41900372 41900372 + Missense_Mutation SNP G G T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_013377.3 +1 validated p.A62S 0.000 191 0% 252 15.9% 0 - benign(0.049) tolerated(0.5) neutral(0.013) superfamily_PDZ AMHR2 269 genome.wustl.edu 37 12 53822697 53822697 + Nonsense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_020547.2 +1 reviewed p.Y290* 1.000 95 0% 155 10.3% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase OR6C3 254786 genome.wustl.edu 37 12 55726169 55726169 + Missense_Mutation SNP A A C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_054104.1 +1 provisional p.S229R 0.000 555 0% 661 15% 0 - possibly_damaging(0.642) tolerated(0.16) neutral(0.284) HMMPfam_7tm_1,superfamily_SSF81321 TSPAN19 144448 genome.wustl.edu 37 12 85421802 85421802 + Splice_Site SNP C C A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001100917.1 -1 validated e3-1 0.997 192 0% 173 17.3% 0 - - - - - TXNRD1 7296 genome.wustl.edu 37 12 104725378 104725378 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 ENST00000429002 +1 known p.E541Q 1.000 337 0% 328 14.6% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pyr_redox_dim,superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain ZMYM2 7750 genome.wustl.edu 37 13 20660143 20660143 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_003453.2 +1 validated p.D1375H 1.000 184 0% 172 23.8% 18 38.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MYCBP2 23077 genome.wustl.edu 37 13 77671902 77671902 + Silent SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_015057.4 -1 validated p.L3091 0.985 201 1% 212 13.2% 0 - - - - NULL NFKBIA 4792 genome.wustl.edu 37 14 35872971 35872971 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_020529.2 -1 reviewed p.K87N 0.853 125 0% 132 14.4% 26 34.6% probably_damaging(0.978) tolerated(0.11) deleterious(0.692) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat NIN 51199 genome.wustl.edu 37 14 51221575 51221575 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_020921.3 -1 reviewed p.E1517K 1.000 157 0% 224 29.9% 2 50% benign(0.227) deleterious(0.01) neutral(0.428) NULL KTN1 3895 genome.wustl.edu 37 14 56106668 56106668 + Missense_Mutation SNP G G T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001079521.1 +1 validated p.D621Y 1.000 291 0% 281 18.1% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL POMT2 29954 genome.wustl.edu 37 14 77765067 77765067 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_013382.5 -1 reviewed p.S324L 1.000 211 0% 214 14% 1 0% benign(0) tolerated(0.18) neutral(0.056) NULL MOAP1 64112 genome.wustl.edu 37 14 93650439 93650439 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_022151.4 -1 reviewed p.R50K 0.506 113 0% 157 21% 2 0% possibly_damaging(0.862) tolerated(0.15) deleterious(0.574) NULL AHNAK2 113146 genome.wustl.edu 37 14 105409224 105409224 + Silent SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_138420.2 -1 validated p.A4188 0.000 189 0% 205 19% 0 - - - - NULL MGA 23269 genome.wustl.edu 37 15 42005577 42005577 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001080541.2 +1 validated p.H1105Y 0.085 161 0% 190 20% 0 - benign(0.173) deleterious(0) neutral(0.461) NULL JMJD7-PLA2G4B 8681 genome.wustl.edu 37 15 42139907 42139907 + Missense_Mutation SNP C C A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_005090.3 +1 validated p.S963Y 0.997 42 0% 35 17.1% 20 40% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_FabD/lysophospholipase-like SNX1 6642 genome.wustl.edu 37 15 64418415 64418415 + Silent SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_003099.3 +1 reviewed p.L216 0.895 143 0% 121 15.7% 6 0% - - - HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain LCTL 197021 genome.wustl.edu 37 15 66844489 66844489 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_207338.2 -1 validated p.P406A 0.886 293 0% 363 12.1% 0 - benign(0.069) tolerated(0.66) neutral(0.007) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat TLE3 7090 genome.wustl.edu 37 15 70351092 70351092 + Silent SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_005078.2 -1 validated p.A276 1.000 88 0% 112 17.9% 1 0% - - - NULL RASGRF1 5923 genome.wustl.edu 37 15 79350689 79350689 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_002891.4 -1 reviewed p.R173Q 1.000 129 0% 158 34.8% 0 - possibly_damaging(0.809) tolerated(0.2) neutral(0.353) NULL SH3GL3 6457 genome.wustl.edu 37 15 84228050 84228050 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_003027.3 +1 validated p.D31H 1.000 335 0% 308 29.5% 0 - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) HMMPfam_BAR,HMMSmart_SM00721 TM2D3 80213 genome.wustl.edu 37 15 102182730 102182730 + Silent SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_078474.2 -1 reviewed p.L232 0.030 79 0% 100 10% 12 25% - - - NULL TIGD7 91151 genome.wustl.edu 37 16 3350355 3350355 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_033208.2 -1 validated p.W87* 1.000 253 0.4% 364 15.9% 7 14.2% - - - HMMSmart_SM00674,superfamily_Homeodomain-like,HMMPfam_CenpB-DNA-bind SEC14L5 9717 genome.wustl.edu 37 16 5053459 5053459 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_014692.1 +1 validated p.P396L 0.999 56 0% 58 12.1% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_CRAL_TRIO,HMMSmart_SEC14,superfamily_CRAL_TRIO_C NAGPA 51172 genome.wustl.edu 37 16 5077175 5077175 + Missense_Mutation SNP T T G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_016256.2 -1 reviewed p.E434A 0.000 94 0% 109 16.5% 11 54.5% benign(0) deleterious(0.04) neutral(0.349) NULL GPR97 222487 genome.wustl.edu 37 16 57713216 57713216 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_170776.4 +1 validated p.P207L 0.002 73 0% 71 40.8% 0 - benign(0) tolerated(0.72) neutral(0.002) NULL HYDIN 54768 genome.wustl.edu 37 16 70917950 70917950 + Missense_Mutation SNP G G T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_032821.2 -1 validated p.N3283K 0.884 105 0% 154 14.3% 0 - benign(0.034) tolerated(0.14) neutral(0.252) NULL HYDIN 54768 genome.wustl.edu 37 16 71171228 71171228 + Missense_Mutation SNP C C A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_032821.2 -1 validated p.G290V 1.000 321 0% 526 8.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL DHX38 9785 genome.wustl.edu 37 16 72137620 72137620 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_014003.3 +1 reviewed p.R586Q 1.000 63 1.6% 104 15.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_DEXDc,superfamily_SSF52540 USP10 9100 genome.wustl.edu 37 16 84796613 84796613 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_005153.2 +1 reviewed p.E525K 1.000 231 0% 225 18.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_SSF54001 SMG6 23293 genome.wustl.edu 37 17 2196243 2196243 + Missense_Mutation SNP C C A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_017575.4 -1 validated p.R727L 1.000 234 0.4% 210 12.9% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_EST1 TP53 7157 genome.wustl.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G T rs121913343 byCluster TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_000546.4 -1 reviewed p.R273S 0.830 182 0% 288 58.7% 14 64.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_p53-like transcription factors,HMMPfam_P53 MYH13 8735 genome.wustl.edu 37 17 10223673 10223673 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_003802.2 -1 validated p.L1084F 0.936 416 0% 406 16.5% 0 - benign(0.004) deleterious(0.01) neutral(0.406) HMMPfam_Myosin_tail_1,superfamily_Prefoldin ELAC2 60528 genome.wustl.edu 37 17 12896269 12896269 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_018127.6 -1 reviewed p.E783Q 1.000 63 0% 107 44.9% 29 58.6% probably_damaging(0.999) tolerated(0.51) deleterious(0.499) NULL FBXW10 10517 genome.wustl.edu 37 17 18651298 18651298 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_031456.3 +1 validated p.D184N 0.318 509 0% 623 16.2% 0 - benign(0.071) tolerated(0.07) neutral(0.324) superfamily_WD40 repeat-like SLFN12L 100506736 genome.wustl.edu 37 17 33802367 33802367 + Missense_Mutation SNP A A T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001145027.1 -1 validated p.S477T 0.173 301 0% 289 14.2% 0 - possibly_damaging(0.792) deleterious(0) deleterious(0.742) NULL KRT27 342574 genome.wustl.edu 37 17 38938619 38938619 + Missense_Mutation SNP T T A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_181537.3 -1 reviewed p.S43C 0.216 156 0% 195 16.9% 0 - benign(0.004) tolerated(0.15) neutral(0.241) NULL HDAC5 10014 genome.wustl.edu 37 17 42158130 42158130 + Splice_Site SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001015053.1 -1 reviewed e20+1 1.000 112 0% 169 17.2% 2 100% - - - - MRPS23 51649 genome.wustl.edu 37 17 55918378 55918378 + Missense_Mutation SNP C C A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_016070.2 -1 reviewed p.G110V 1.000 802 0% 953 12% 7 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_MRP-S23 LPO 4025 genome.wustl.edu 37 17 56327830 56327830 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_006151.2 +1 reviewed p.D210H 1.000 150 0% 241 13.3% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_An_peroxidase,superfamily_Peroxidase_super YPEL2 388403 genome.wustl.edu 37 17 57430867 57430867 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001005404.3 +1 validated p.H33D 1.000 152 0% 256 16.4% 0 - benign(0.084) tolerated(0.1) neutral(0.292) HMMPfam_Yippee RNFT1 51136 genome.wustl.edu 37 17 58037439 58037439 + Missense_Mutation SNP G G T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_016125.3 -1 validated p.L228I 1.000 175 0% 259 13.5% 2 0% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL ENSG00000238283 0 genome.wustl.edu 37 17 58088518 58088518 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 ENST00000407042 -1 known p.S264L 0.003 383 0% 521 10.9% 1 0% - - - HMMPfam_TBC FTSJ3 117246 genome.wustl.edu 37 17 61898778 61898778 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_017647.3 -1 reviewed p.E608Q 0.000 102 0% 205 14.6% 2 0% benign(0) tolerated(0.52) neutral(0.009) NULL SLC39A11 201266 genome.wustl.edu 37 17 70732822 70732822 + Missense_Mutation SNP T T C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_139177.3 -1 validated p.E213G 0.150 237 0% 271 14.4% 0 - benign(0) tolerated(1) - HMMPfam_Zip ASXL3 80816 genome.wustl.edu 37 18 31323172 31323172 + Silent SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_030632.1 +1 provisional p.L1120 1.000 68 0% 99 14.1% 0 - - - - NULL MOCOS 55034 genome.wustl.edu 37 18 33795641 33795641 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_017947.2 +1 validated p.Q500E 0.010 80 0% 96 14.6% 5 20% benign(0.004) tolerated(0.66) neutral(0.003) NULL CDH20 28316 genome.wustl.edu 37 18 59166671 59166671 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_031891.2 +1 reviewed p.D167N 1.000 123 0% 142 16.2% 0 - probably_damaging(0.998) tolerated(0.48) deleterious(0.485) superfamily_Cadherin PIGN 23556 genome.wustl.edu 37 18 59777173 59777173 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_012327.5 -1 reviewed p.A490P 0.033 195 0% 176 23.3% 0 - benign(0.355) tolerated(0.11) neutral(0.384) HMMPfam_PigN HCN2 610 genome.wustl.edu 37 19 613383 613383 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001194.3 +1 validated p.E574K 0.999 81 0% 80 32.5% 2 0% possibly_damaging(0.817) tolerated(0.12) deleterious(0.570) HMMPfam_cNMP_binding,HMMSmart_cNMP,PatternScan_CNMP_BINDING_1,superfamily_cNMP_binding MUC16 94025 genome.wustl.edu 37 19 9090333 9090333 + Missense_Mutation SNP A A T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_024690.2 -1 validated p.S494R 0.000 208 0% 498 59.2% 0 - unknown(0) - - NULL ELOF1 84337 genome.wustl.edu 37 19 11664850 11664850 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_032377.3 -1 validated p.E55K 1.000 116 0% 290 11% 64 15.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Elf1 ARMC6 93436 genome.wustl.edu 37 19 19162614 19162614 + Missense_Mutation SNP C C A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_033415.2 +1 reviewed p.L130M 0.033 32 0% 74 12.2% 13 7.6% possibly_damaging(0.726) tolerated(0.08) deleterious(0.564) superfamily_ARM repeat PEPD 5184 genome.wustl.edu 37 19 33953921 33953921 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_000285.3 -1 reviewed p.M217I 1.000 709 0.1% 757 14.5% 4 0% benign(0.103) deleterious(0.04) neutral(0.357) HMMPfam_Peptidase_M24,superfamily_Peptidase_M24_cat_core RPS4XP21 126235 genome.wustl.edu 37 19 34584109 34584109 + Missense_Mutation SNP T T G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 ENST00000469064 -1 known p.Q47P 1.000 21 0% 25 24% 0 - benign(0.418) deleterious(0) deleterious(0.580) HMMPfam_RS4NT ZNF570 148268 genome.wustl.edu 37 19 37975114 37975114 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_144694.1 +1 provisional p.R197T 0.477 110 0% 96 21.9% 0 - benign(0.003) deleterious(0.04) neutral(0.349) superfamily_C2H2 and C2HC zinc fingers WDR87 83889 genome.wustl.edu 37 19 38382414 38382414 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_031951.3 -1 provisional p.R1019W 0.803 147 0.7% 149 16.8% 0 - probably_damaging(1) - - superfamily_WD40 repeat-like,superfamily_ARM repeat CYP2A6 1548 genome.wustl.edu 37 19 41351950 41351950 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_000762.5 -1 reviewed p.T295M 0.008 191 0% 267 18% 0 - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) HMMPfam_p450,superfamily_Cytochrome P450 SIGLEC11 114132 genome.wustl.edu 37 19 50463398 50463398 + Silent SNP C C A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 ENST00000426971 -1 known p.W237L 0.783 255 0% 326 9.2% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin ZNF835 90485 genome.wustl.edu 37 19 57175917 57175917 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001005850.1 -1 provisional p.T239M 1.000 29 0% 69 43.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF57667 ZNF749 388567 genome.wustl.edu 37 19 57955099 57955099 + Missense_Mutation SNP G G C rs76462332 TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001023561.2 +1 provisional p.D195H 0.000 101 0% 166 45.2% 0 - benign(0.015) tolerated(0.5) neutral(0.011) NULL ZNF337 26152 genome.wustl.edu 37 20 25655682 25655682 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_015655.2 -1 validated p.E748Q 0.716 199 0% 321 46.1% 21 71.4% benign(0.007) deleterious(0.03) neutral(0.364) NULL CASS4 57091 genome.wustl.edu 37 20 55012583 55012583 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_020356.3 +1 validated p.P134S 0.869 16 0% 24 58.3% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL CTCFL 140690 genome.wustl.edu 37 20 56083807 56083807 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_080618.2 -1 reviewed p.G510A 1.000 278 0% 420 58.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_C2H2 and C2HC zinc fingers MORC3 23515 genome.wustl.edu 37 21 37711216 37711216 + Missense_Mutation SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_015358.2 +1 reviewed p.R202K 1.000 92 0% 111 20.7% 0 - possibly_damaging(0.88) tolerated(0.18) neutral(0.399) superfamily_ATP_bd_ATPase MX1 4599 genome.wustl.edu 37 21 42830607 42830607 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001144925.1 +1 reviewed p.S637R 0.973 54 0% 45 31.1% 20 30% benign(0.004) tolerated(0.32) neutral(0.024) HMMPfam_GED,HMMSmart_GED MCM3AP 8888 genome.wustl.edu 37 21 47704178 47704178 + Silent SNP C C A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_003906.3 -1 reviewed p.T341 0.007 157 0% 162 18.5% 1 0% - - - NULL SEPT5 5413 genome.wustl.edu 37 22 19709968 19709968 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_002688.4 +1 reviewed p.E357D 1.000 20 0% 27 29.6% 4 0% benign(0.388) tolerated(0.48) neutral(0.135) NULL HMOX1 3162 genome.wustl.edu 37 22 35782716 35782716 + Silent SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_002133.1 +1 reviewed p.L61 1.000 56 0% 108 21.3% 23 17.3% - - - HMMPfam_Heme_oxygenase,superfamily_Heme oxygenase-like CELSR1 9620 genome.wustl.edu 37 22 46859794 46859794 + Silent SNP G G A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 ENST00000454637 -1 known p.S706L 1.000 81 0% 115 15.7% 0 - - - - HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin P2RY8 286530 genome.wustl.edu 37 X 1584609 1584609 + Silent SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_178129.4 -1 reviewed p.L281 1.000 69 0% 83 22.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 ASMT 438 genome.wustl.edu 37 X 1742065 1742065 + Missense_Mutation SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_004043.2 +1 reviewed p.D35H 1.000 261 0% 265 19.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF46785 MAGEB6 158809 genome.wustl.edu 37 X 26213093 26213093 + Missense_Mutation SNP C C A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_173523.2 +1 reviewed p.A377D 0.012 242 0% 287 20.2% 0 - possibly_damaging(0.501) deleterious(0) deleterious(0.612) NULL USP27X 389856 genome.wustl.edu 37 X 49645901 49645901 + Missense_Mutation SNP C C G novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001145073.1 +1 provisional p.L331V 1.000 218 0% 288 34.4% 1 100% - - - HMMPfam_UCH,superfamily_SSF54001 ZXDB 158586 genome.wustl.edu 37 X 57620425 57620425 + Silent SNP C C A novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_007157.3 +1 validated p.L648 0.969 185 0% 176 14.2% 0 - - - - NULL CYLC1 1538 genome.wustl.edu 37 X 83128279 83128279 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_021118.1 +1 provisional p.S188F 0.000 57 0% 49 22.4% 0 - unknown(0) tolerated(0.33) - NULL SERPINA7 6906 genome.wustl.edu 37 X 105280474 105280474 + Silent SNP G G C novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_000354.5 -1 reviewed p.L192 0.437 206 0% 138 21.7% 0 - - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin KLHL13 90293 genome.wustl.edu 37 X 117053679 117053679 + Silent SNP A A T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_033495.3 -1 reviewed p.G125 1.000 156 0% 107 23.4% 0 - - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB LOC100128949 100128949 genome.wustl.edu 37 X 134155747 134155747 + Silent SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 XM_001720075.2 +1 model p.V12 0.000 147 0.7% 114 15.8% 1 100% possibly_damaging(0.86) - - NULL FAM127A 8933 genome.wustl.edu 37 X 134166525 134166525 + Missense_Mutation SNP G G T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001078171.1 +1 validated p.D38Y 1.000 110 0% 100 32% 12 75% probably_damaging(0.97) deleterious(0.02) deleterious(0.795) NULL SPANXN2 494119 genome.wustl.edu 37 X 142795245 142795245 + Missense_Mutation SNP C C T novel TCGA-AP-A0LF-01A-11D-A122-09 TCGA-AP-A0LF-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 460f7427-ebcf-404b-9e9e-e0278d0bca95 1d931d9e-37a8-401f-89cf-e621ce8d56a8 NM_001009615.1 -1 provisional p.E145K 0.000 562 0% 441 21.1% 0 - unknown(0) tolerated(0.2) - NULL