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 CEP104 9731 genome.wustl.edu 37 1 3742976 3742976 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_014704.3 -1 validated p.P738L 0.000 92 0% 117 41% 8 75% benign(0) tolerated(0.3) neutral(0.029) NULL NPHP4 261734 genome.wustl.edu 37 1 6027413 6027413 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_015102.2 -1 reviewed p.Y155H 0.973 69 0% 34 26.5% 2 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL TNFRSF9 3604 genome.wustl.edu 37 1 7998852 7998852 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001561.4 -1 reviewed p.S46N 0.000 280 0% 302 34.8% 2 0% benign(0.058) tolerated(0.47) neutral(0.014) NULL EXOSC10 5394 genome.wustl.edu 37 1 11134328 11134328 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001001998.1 -1 validated p.A681V 1.000 515 0% 561 12.1% 59 8.4% probably_damaging(0.96) tolerated(0.09) deleterious(0.700) NULL PRDM2 7799 genome.wustl.edu 37 1 14107335 14107335 + Silent SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_012231.4 +1 reviewed p.T1015 0.000 355 0% 251 36.3% 1 100% - - - NULL SPEN 23013 genome.wustl.edu 37 1 16242708 16242708 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000442985 +1 known p.A183V 0.988 357 0% 428 28.5% 2 50% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD PADI1 29943 genome.wustl.edu 37 1 17570695 17570695 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_013358.2 +1 reviewed p.R650H 1.000 93 0% 63 41.3% 0 - possibly_damaging(0.699) tolerated(0.13) deleterious(0.504) HMMPfam_PAD,superfamily_Pentein ECE1 1889 genome.wustl.edu 37 1 21585333 21585333 + Splice_Site SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001397.2 -1 reviewed e6-1 1.000 139 0% 100 41% 1 100% - - - - LYPLA2 11313 genome.wustl.edu 37 1 24120741 24120741 + Missense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_007260.2 +1 reviewed p.L133I 1.000 51 0% 31 32.3% 79 39.2% unknown(0) deleterious(0) - HMMPfam_Abhydrolase_2,superfamily_SSF53474 ARID1A 8289 genome.wustl.edu 37 1 27101300 27101300 + Nonsense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_006015.4 +1 reviewed p.R1528* 1.000 92 0% 53 43.4% 8 75% - - - NULL WDTC1 23038 genome.wustl.edu 37 1 27614297 27614297 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_015023.3 +1 validated p.T142A 1.000 121 0% 94 37.2% 0 - possibly_damaging(0.738) deleterious(0.01) deleterious(0.675) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 RLF 6018 genome.wustl.edu 37 1 40705985 40705986 + Frame_Shift_Del DEL TG TG - novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_012421.3 +1 validated p.C1871fs 1.000:1.000 - - - - - - - - - NULL CTPS 1503 genome.wustl.edu 37 1 41473156 41473156 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001905.2 +1 validated p.M444I 1.000 116 0% 117 35.9% 16 12.5% benign(0.247) deleterious(0.01) neutral(0.431) HMMPfam_GATase,superfamily_SSF52317 B4GALT2 8704 genome.wustl.edu 37 1 44450725 44450725 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001005417.1 +1 reviewed p.F246 1.000 42 0% 28 46.4% 42 45.2% - - - HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases GBP2 2634 genome.wustl.edu 37 1 89578212 89578212 + Silent SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004120.3 -1 reviewed p.T435 0.000 222 0% 267 32.2% 54 27.7% - - - HMMPfam_GBP_C,superfamily_GBP HIAT1 64645 genome.wustl.edu 37 1 100547581 100547581 + Missense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_033055.2 +1 validated p.P430H 1.000 277 0% 338 37% 21 23.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_MFS_gen_substrate_transporter SASS6 163786 genome.wustl.edu 37 1 100568612 100568612 + Missense_Mutation SNP A A C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_194292.1 -1 validated p.C525G 0.973 162 0% 263 35% 3 33.3% benign(0.001) tolerated(0.34) neutral(0.023) NULL ATXN7L2 127002 genome.wustl.edu 37 1 110029731 110029731 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_153340.4 +1 validated p.P134L 1.000 50 0% 36 38.9% 1 100% probably_damaging(0.978) tolerated(0.13) deleterious(0.673) NULL TRIM33 51592 genome.wustl.edu 37 1 114948195 114948195 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_015906.3 -1 reviewed p.H869Y 1.000 345 0% 340 40.3% 1 0% possibly_damaging(0.808) tolerated(0.08) deleterious(0.604) NULL SF3B4 10262 genome.wustl.edu 37 1 149898475 149898475 + Missense_Mutation SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005850.3 -1 reviewed p.L167I 1.000 78 0% 155 18.7% 208 24.5% benign(0.328) tolerated(0.2) neutral(0.152) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 PRPF3 9129 genome.wustl.edu 37 1 150310768 150310768 + Missense_Mutation SNP T T G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004698.2 +1 reviewed p.W390G 1.000 199 0% 431 20.2% 49 24.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PRP3 TCHH 7062 genome.wustl.edu 37 1 152081633 152081633 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_007113.2 -1 provisional p.R1354C 0.000 309 0% 441 20.4% 0 - unknown(0) - - NULL RPTN 126638 genome.wustl.edu 37 1 152128690 152128690 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001122965.1 -1 validated p.Y295 0.000 885 0% 1219 21.7% 0 - - - - NULL FLG 2312 genome.wustl.edu 37 1 152277822 152277822 + Silent SNP T T G rs3126069 byCluster;byFrequency;byHapMap TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_002016.1 -1 reviewed p.S3180 0.000 538 0% 796 18% 0 - - - - HMMPfam_Filaggrin NUP210L 91181 genome.wustl.edu 37 1 154090318 154090320 + In_Frame_Del DEL AGA AGA - novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_207308.2 -1 validated p.S501in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_Invasin_intimin SHC1 6464 genome.wustl.edu 37 1 154938528 154938528 + Silent SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000444664 -1 known p.L90I 1.000 135 0% 192 21.4% 60 11.6% - - - NULL DCST1 149095 genome.wustl.edu 37 1 155015884 155015884 + Silent SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_152494.2 +1 validated p.T357 0.142 30 0% 38 28.9% 0 - - - - NULL ASH1L 55870 genome.wustl.edu 37 1 155448916 155448917 + Frame_Shift_Del DEL TA TA - novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_018489.2 -1 reviewed p.H1248fs 1.000:0.996 - - - - - - - - - NULL SMG5 23381 genome.wustl.edu 37 1 156238147 156238147 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_015327.2 -1 validated p.K258R 1.000 406 0% 651 20.4% 18 11.1% possibly_damaging(0.779) tolerated(0.18) neutral(0.347) NULL NR1I3 9970 genome.wustl.edu 37 1 161199676 161199676 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001077482.1 -1 reviewed p.R329W 1.000 157 0% 196 22.4% 13 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hormone_recep,HMMSmart_HOLI,superfamily_Str_ncl_receptor HSPA6 3310 genome.wustl.edu 37 1 161495797 161495797 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_002155.3 +1 validated p.A450V 1.000 185 0% 316 17.4% 6 0% possibly_damaging(0.945) deleterious(0) deleterious(0.834) HMMPfam_HSP70,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain SELL 6402 genome.wustl.edu 37 1 169673709 169673709 + Missense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_000655.4 -1 reviewed p.V256L 0.993 177 0% 299 24.4% 4 0% benign(0.228) tolerated(0.18) neutral(0.079) superfamily_Complement_control_module FAM5B 57795 genome.wustl.edu 37 1 177225152 177225152 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_021165.2 +1 provisional p.R123C 1.000 175 0% 326 19% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00457 ANGPTL1 9068 genome.wustl.edu 37 1 178822844 178822844 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004673.3 -1 reviewed p.S301N 1.000 266 0% 453 21.9% 0 - benign(0.213) tolerated(0.36) neutral(0.041) HMMPfam_Fibrinogen_C,HMMSmart_FBG,superfamily_Fibrinogen_a/b/g_C AXDND1 126859 genome.wustl.edu 37 1 179363127 179363127 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_144696.4 +1 validated p.R318H 1.000 275 0% 514 17.7% 0 - unknown(0) deleterious(0.01) - NULL LAMC1 3915 genome.wustl.edu 37 1 183093842 183093842 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_002293.3 +1 reviewed p.R826 0.299 224 0% 356 25.6% 23 13% - - - PatternScan_EGF_LAM_1,superfamily_SSF57196 NCF2 4688 genome.wustl.edu 37 1 183538317 183538317 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_000433.3 -1 reviewed p.A225T 1.000 431 0% 737 21.7% 5 20% benign(0.309) tolerated(0.47) neutral(0.107) NULL SWT1 54823 genome.wustl.edu 37 1 185153983 185153983 + Missense_Mutation SNP T T A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001105518.1 +1 validated p.V450D 1.000 232 0% 499 21.4% 3 33.3% probably_damaging(0.955) deleterious(0.03) deleterious(0.763) HMMSmart_PINc,superfamily_SSF88723 TROVE2 6738 genome.wustl.edu 37 1 193038388 193038388 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004600.5 +1 validated p.G68 1.000 85 0% 194 21.1% 1 0% - - - HMMPfam_TROVE CFH 3075 genome.wustl.edu 37 1 196711104 196711104 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_000186.3 +1 reviewed p.A1019V 0.000 192 0% 407 24.6% 8 12.5% benign(0.095) tolerated(0.28) neutral(0.038) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain IPO9 55705 genome.wustl.edu 37 1 201826320 201826320 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_018085.4 +1 validated p.L407 1.000 238 0% 553 20.8% 4 0% - - - superfamily_ARM repeat IPO9 55705 genome.wustl.edu 37 1 201836028 201836028 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_018085.4 +1 validated p.A599V 1.000 238 0% 388 23.5% 24 0% benign(0.016) tolerated(0.47) neutral(0.011) superfamily_ARM repeat KLHL12 59349 genome.wustl.edu 37 1 202862411 202862411 + Silent SNP A A G rs140963884 by1000genomes TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_021633.2 -1 provisional p.Y512 1.000 232 0% 450 20.9% 23 30.4% - - - HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central PRELP 5549 genome.wustl.edu 37 1 203455914 203455914 + Missense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_002725.3 +1 reviewed p.L352M 1.000 133 0% 163 22.1% 8 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_LRR_1,superfamily_L domain-like ATP2B4 493 genome.wustl.edu 37 1 203696673 203696673 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001684.3 +1 reviewed p.R1095W 1.000 187 0% 250 18.8% 8 12.5% probably_damaging(0.964) deleterious(0.02) deleterious(0.789) NULL PLEKHA6 22874 genome.wustl.edu 37 1 204198144 204198144 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_014935.2 -1 validated p.E891G 1.000 118 0% 147 22.4% 18 22.2% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL PIGR 5284 genome.wustl.edu 37 1 207110970 207110970 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_002644.3 -1 reviewed p.Y172C 0.000 122 0% 244 20.5% 379 19.7% benign(0) tolerated(0.09) neutral(0.296) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 C4BPA 722 genome.wustl.edu 37 1 207314476 207314476 + Silent SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_000715.3 +1 reviewed p.A433 0.075 459 0.2% 904 20.4% 18 33.3% - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CR2 1380 genome.wustl.edu 37 1 207643265 207643265 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001006658.2 +1 reviewed p.A348V 0.000 270 0% 380 19.5% 0 - possibly_damaging(0.49) tolerated(0.1) neutral(0.450) NULL PLXNA2 5362 genome.wustl.edu 37 1 208272285 208272285 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_025179.3 -1 reviewed p.A546V 1.000 61 0% 77 11.7% 3 0% probably_damaging(0.991) tolerated(0.06) deleterious(0.766) HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat LOC642587 642587 genome.wustl.edu 37 1 209605601 209605601 + Silent SNP G G A rs186821678 by1000genomes TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001104548.1 +1 validated p.S72 0.004 44 0% 60 30% 3 66.6% - - - NULL USH2A 7399 genome.wustl.edu 37 1 215807816 215807816 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_206933.2 -1 reviewed p.P5094 0.003 181 0% 427 19.2% 0 - - - - NULL HLX 3142 genome.wustl.edu 37 1 221055559 221055559 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_021958.3 +1 validated p.R276C 1.000 51 0% 79 10.1% 12 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_HOX,superfamily_Homeodomain_like TLR5 7100 genome.wustl.edu 37 1 223284943 223284943 + Missense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_003268.5 -1 reviewed p.Q477H 0.021 142 0% 361 21.3% 1 0% benign(0.008) tolerated(0.33) neutral(0.024) superfamily_SSF52058 ACTA1 58 genome.wustl.edu 37 1 229567379 229567379 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001100.3 -1 reviewed p.P334L 1.000 82 0% 101 14.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain DISC1 27185 genome.wustl.edu 37 1 231935948 231935948 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_018662.2 +1 reviewed p.A595V 0.997 270 0% 425 19.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SIPA1L2 57568 genome.wustl.edu 37 1 232575035 232575035 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_020808.3 -1 validated p.A1284T 0.055 48 0% 68 25% 5 20% benign(0) tolerated(0.79) neutral(0.001) NULL ARID4B 51742 genome.wustl.edu 37 1 235345768 235345768 + Silent SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000474953 -1 known p.W136R 0.998 439 0% 957 19.9% 10 30% - - - NULL NID1 4811 genome.wustl.edu 37 1 236157128 236157128 + Missense_Mutation SNP C C T rs34470198 byCluster;byFrequency TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_002508.2 -1 reviewed p.G858R 0.080 42 2.4% 28 28.6% 4 0% benign(0.007) tolerated(0.08) neutral(0.300) HMMPfam_Thyroglobulin_1,superfamily_Thyroglobulin type-1 domain RYR2 6262 genome.wustl.edu 37 1 237659965 237659965 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001035.2 +1 reviewed p.Y706H 1.000 290 0% 368 14.9% 0 - probably_damaging(0.981) - - HMMPfam_SPRY,HMMSmart_SM00449 SDCCAG8 10806 genome.wustl.edu 37 1 243493967 243493967 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_006642.2 +1 validated p.T398 0.199 223 0% 456 18.2% 10 20% - - - NULL PPPDE1 51029 genome.wustl.edu 37 1 244816653 244816653 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_016076.3 +1 validated p.D13G 1.000 29 0% 29 13.8% 3 33.3% probably_damaging(0.96) deleterious(0) deleterious(0.848) HMMPfam_DUF862 OR2L5 81466 genome.wustl.edu 37 1 248185926 248185926 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000355281 +1 known p.R226H 0.000 255 0% 454 20.9% 0 - benign(0.006) tolerated(0.53) neutral(0.007) HMMPfam_7tm_1,superfamily_SSF81321 ASAP2 8853 genome.wustl.edu 37 2 9515045 9515045 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_003887.2 +1 reviewed p.T573M 0.993 51 0% 81 40.7% 5 60% benign(0.109) tolerated(0.52) neutral(0.017) superfamily_Ankyrin repeat SRD5A2 6716 genome.wustl.edu 37 2 31805721 31805722 + Frame_Shift_Ins INS - - A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000233139 -1 known p.L82fs 0.975:0.581 - - - - - - - - - NULL BIRC6 57448 genome.wustl.edu 37 2 32735613 32735613 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_016252.3 +1 reviewed p.F3420L 1.000 257 0.4% 380 35.3% 3 33.3% benign(0.009) tolerated(1) neutral(0.001) NULL ARHGEF33 100271715 genome.wustl.edu 37 2 39171056 39171056 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001145451.2 +1 validated p.V269M 1.000 291 0% 363 32% 0 - possibly_damaging(0.92) deleterious(0.01) deleterious(0.776) HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) ERLEC1 27248 genome.wustl.edu 37 2 54026194 54026196 + In_Frame_Del DEL AGA AGA - novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_015701.3 +1 validated p.E169in_frame_del 1.000:0.999:1.000 - - - - - - - - - HMMPfam_PRKCSH SPTBN1 6711 genome.wustl.edu 37 2 54871643 54871643 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_003128.2 +1 reviewed p.H1397Y 0.360 124 0% 114 40.4% 12 16.6% benign(0) deleterious(0.03) neutral(0.364) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat CCDC88A 55704 genome.wustl.edu 37 2 55559800 55559800 + Silent SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001135597.1 -1 validated p.Q919 1.000 507 0% 595 35.6% 0 - - - - NULL ZNF638 27332 genome.wustl.edu 37 2 71576789 71576789 + Silent SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001014972.1 +1 reviewed p.T235 0.835 146 0% 187 44.4% 1 0% - - - NULL BOLA3 388962 genome.wustl.edu 37 2 74369475 74369475 + Missense_Mutation SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_212552.2 -1 validated p.A61E 0.999 370 0% 359 34.8% 50 32% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_BolA,superfamily_BolA DNAH6 1768 genome.wustl.edu 37 2 84846918 84846918 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001370.1 +1 validated p.E1228K 0.998 184 0% 202 41.1% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_DHC_N2 FER1L5 90342 genome.wustl.edu 37 2 97368967 97368967 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001113382.1 +1 provisional p.A1895T 0.000 71 0% 50 44% 0 - benign(0.002) tolerated(0.66) neutral(0.003) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) VWA3B 200403 genome.wustl.edu 37 2 98928687 98928687 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_144992.4 +1 provisional p.A1254T 0.024 129 0% 97 40.2% 1 100% possibly_damaging(0.46) deleterious(0) deleterious(0.596) NULL RGPD8 727851 genome.wustl.edu 37 2 113147107 113147107 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000302558 -1 known p.G1139S 1.000 363 0% 301 10.3% 0 - probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMPfam_Ran_BP1,HMMSmart_SM00160,superfamily_PH domain-like LOC645529 645529 genome.wustl.edu 37 2 114425332 114425332 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 XM_001716670.2 -1 model p.P264 0.019 109 0% 73 21.9% 5 20% - - - NULL CNTNAP5 129684 genome.wustl.edu 37 2 124979383 124979383 + Missense_Mutation SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_130773.2 +1 reviewed p.V62F 0.999 227 0% 173 31.2% 0 - benign(0.067) tolerated(0.66) neutral(0.007) HMMPfam_F5_F8_type_C,HMMSmart_FA58C,superfamily_Gal_bind_like SAP130 79595 genome.wustl.edu 37 2 128707771 128707771 + Missense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_024545.3 -1 validated p.K869N 1.000 406 0% 396 35.4% 14 42.8% benign(0.25) tolerated(0.06) neutral(0.348) NULL MCM6 4175 genome.wustl.edu 37 2 136624161 136624161 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005915.4 -1 reviewed p.V251 1.000 104 0% 101 31.7% 2 50% - - - HMMSmart_SM00350,superfamily_Nucleic acid-binding proteins TANC1 85461 genome.wustl.edu 37 2 160085324 160085324 + Missense_Mutation SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_033394.2 +1 validated p.E1356D 0.998 249 0% 240 39.2% 8 62.5% probably_damaging(0.958) deleterious(0.02) deleterious(0.784) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like PDE11A 50940 genome.wustl.edu 37 2 178592471 178592471 + Nonsense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000433879 -1 known p.Q261* 1.000 223 0% 176 34.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HD-domain/PDEase-like TTN 7273 genome.wustl.edu 37 2 179499273 179499273 + Nonsense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000356127 -1 known p.R11511* 0.787 101 0% 79 31.6% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179571348 179571348 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000356127 -1 known p.G8507 0.991 230 0% 254 37.4% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set SSFA2 6744 genome.wustl.edu 37 2 182780935 182780935 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001130445.1 +1 validated p.R856 0.999 173 0% 172 33.7% 11 45.4% - - - NULL ASNSD1 54529 genome.wustl.edu 37 2 190531221 190531222 + Frame_Shift_Del DEL TA TA - novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_019048.2 +1 validated p.Y123fs 1.000:1.000 - - - - - - - - - superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) GTF3C3 9330 genome.wustl.edu 37 2 197654012 197654012 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_012086.2 -1 provisional p.A270V 1.000 271 0% 279 30.8% 3 0% probably_damaging(0.974) deleterious(0.02) deleterious(0.799) HMMSmart_SM00028,superfamily_Protein prenylyltransferase KCTD18 130535 genome.wustl.edu 37 2 201355264 201355264 + Silent SNP G G A rs188668776 by1000genomes TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_152387.2 -1 validated p.G280 1.000 137 0% 114 26.3% 12 50% - - - NULL DYTN 391475 genome.wustl.edu 37 2 207564479 207564480 + Frame_Shift_Del DEL AG AG - novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001093730.1 -1 provisional p.C231fs 1.000:1.000 - - - - - - - - - HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1 USP37 57695 genome.wustl.edu 37 2 219321841 219321841 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_020935.2 -1 validated p.S896N 1.000 176 0% 241 29% 0 - probably_damaging(0.997) tolerated(0.18) deleterious(0.522) HMMPfam_UCH,PatternScan_UCH_2_2,superfamily_Cysteine proteinases CCDC140 151278 genome.wustl.edu 37 2 223168904 223168904 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_153038.1 +1 validated p.R95C 0.000 36 0% 23 34.8% 0 - unknown(0) - - NULL PID1 55022 genome.wustl.edu 37 2 230127413 230127414 + Frame_Shift_Ins INS - - A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_017933.4 -1 validated p.P36fs 0.000:0.000 - - - - - - - - - NULL CNTN6 27255 genome.wustl.edu 37 3 1415293 1415293 + Missense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_014461.2 +1 reviewed p.P598T 1.000 98 1% 123 35.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,superfamily_SSF48726 FANCD2 2177 genome.wustl.edu 37 3 10107112 10107112 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_033084.3 +1 reviewed p.R735W 1.000 408 0% 429 38.5% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IRAK2 3656 genome.wustl.edu 37 3 10280496 10280496 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001570.3 +1 reviewed p.S513N 0.009 96 0% 64 25% 4 25% probably_damaging(0.982) tolerated(0.21) deleterious(0.470) NULL TMEM40 55287 genome.wustl.edu 37 3 12778132 12778132 + Silent SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_018306.2 -1 provisional p.G188 0.991 110 0% 83 34.9% 2 100% - - - NULL COLQ 8292 genome.wustl.edu 37 3 15540033 15540033 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_080538.2 -1 reviewed p.S21L 0.994 84 0% 72 29.2% 0 - unknown(0) deleterious(0) - NULL GALNTL2 117248 genome.wustl.edu 37 3 16252698 16252698 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_054110.4 +1 validated p.D383N 1.000 289 0% 228 38.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF53448 CLASP2 23122 genome.wustl.edu 37 3 33668482 33668482 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_015097.1 -1 validated p.A345T 1.000 172 0% 238 37.8% 1 100% possibly_damaging(0.838) deleterious(0.04) deleterious(0.669) superfamily_ARM repeat TRAK1 22906 genome.wustl.edu 37 3 42264909 42264909 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001042646.1 +1 validated p.R848G 1.000 59 0% 50 44% 16 37.5% benign(0.164) deleterious(0.01) neutral(0.421) NULL CDCP1 64866 genome.wustl.edu 37 3 45132842 45132842 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_022842.3 -1 reviewed p.M606V 1.000 68 0% 46 15.2% 4 50% benign(0.001) tolerated(0.06) neutral(0.323) NULL SETD2 29072 genome.wustl.edu 37 3 47164290 47164290 + Silent SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000445387 -1 known p.W246R 0.138 65 0% 93 39.8% 1 0% - - - NULL RBM5 10181 genome.wustl.edu 37 3 50151505 50151505 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005778.1 +1 provisional p.D580 1.000 116 0% 166 36.7% 77 49.3% - - - NULL ATXN7 6314 genome.wustl.edu 37 3 63981956 63981956 + Missense_Mutation SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001128149.2 +1 reviewed p.G820C 0.539 162 0% 173 41% 6 0% possibly_damaging(0.476) tolerated(0.11) neutral(0.428) NULL PSMD6 9861 genome.wustl.edu 37 3 64008410 64008410 + Nonsense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000492933 -1 known p.W71* 0.000 19 0.000 8 0.625 3 33.3% - - - NULL VGLL3 389136 genome.wustl.edu 37 3 87017961 87017961 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_016206.2 -1 validated p.R239H 1.000 186 0% 99 37.4% 0 - benign(0.001) tolerated(0.62) neutral(0.004) NULL ST3GAL6 10402 genome.wustl.edu 37 3 98507261 98507261 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_006100.2 +1 provisional p.A237V 0.982 186 0% 255 36.9% 2 50% benign(0.056) tolerated(0.11) neutral(0.275) HMMPfam_Glyco_transf_29 GPR128 84873 genome.wustl.edu 37 3 100328734 100328734 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_032787.2 +1 validated p.L12 0.938 408 0% 353 32.3% 0 - - - - NULL DTX3L 151636 genome.wustl.edu 37 3 122289371 122289371 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_138287.3 +1 validated p.E669K 1.000 243 0% 310 37.7% 7 28.5% probably_damaging(0.997) tolerated(0.1) deleterious(0.752) NULL KALRN 8997 genome.wustl.edu 37 3 124017733 124017733 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000354186 +1 known p.S331N 1.000 232 0% 242 38.8% 1 0% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat UROC1 131669 genome.wustl.edu 37 3 126201222 126201222 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_144639.2 -1 reviewed p.D666G 0.959 29 0% 22 40.9% 0 - probably_damaging(0.984) deleterious(0.01) deleterious(0.836) NULL PLXND1 23129 genome.wustl.edu 37 3 129294624 129294624 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_015103.2 -1 validated p.R807 0.977 364 0.3% 248 34.7% 5 0% - - - NULL TF 7018 genome.wustl.edu 37 3 133472444 133472444 + Nonsense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000414694 +1 known p.R103* 0.000 149 0% 154 40.9% 0 - - - - NULL MED12L 116931 genome.wustl.edu 37 3 150908683 150908683 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_053002.4 +1 reviewed p.E645K 0.998 135 0% 121 33.9% 0 - possibly_damaging(0.935) tolerated(0.68) neutral(0.383) NULL SI 6476 genome.wustl.edu 37 3 164709250 164709250 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001041.3 -1 reviewed p.V1667I 0.000 249 0% 241 36.5% 0 - benign(0.001) tolerated(0.97) - HMMPfam_Glyco_hydro_31 SERPINI2 5276 genome.wustl.edu 37 3 167189580 167189580 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_006217.3 -1 reviewed p.G15R 1.000 198 0% 249 11.6% 0 - probably_damaging(1) tolerated(0.15) deleterious(0.741) superfamily_Prot_inh_serpin FGF12 2257 genome.wustl.edu 37 3 191888254 191888254 + Silent SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_021032.3 -1 reviewed p.P202 0.979 348 0% 352 38.6% 1 0% - - - HMMSmart_SM00442,superfamily_Cytokine KIAA0226 9711 genome.wustl.edu 37 3 197421291 197421291 + Missense_Mutation SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001145642.2 -1 validated p.R502S 1.000 340 0.6% 301 37.2% 0 - probably_damaging(0.999) tolerated(0.14) deleterious(0.740) NULL LRPAP1 4043 genome.wustl.edu 37 4 3526685 3526685 + Missense_Mutation SNP C C T rs11549511 byCluster;by1000genomes TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_002337.2 -1 validated p.G100S 0.999 183 0.5% 172 32% 96 51% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Alpha-2-MRAP_N,superfamily_MG_RAP_rcpt_1 DHX15 1665 genome.wustl.edu 37 4 24534517 24534517 + Missense_Mutation SNP T T G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001358.2 -1 reviewed p.R690S 1.000 103 0% 141 34.8% 83 39.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1605 TLR1 7096 genome.wustl.edu 37 4 38799647 38799648 + Frame_Shift_Ins INS - - A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_003263.3 -1 reviewed p.W269fs 1.000:1.000 - - - - - - - - - superfamily_L domain-like,superfamily_Outer arm dynein light chain 1 RFC1 5981 genome.wustl.edu 37 4 39329365 39329365 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_002913.3 -1 reviewed p.D115N 1.000 308 0% 392 33.4% 0 - possibly_damaging(0.951) tolerated(0.09) deleterious(0.691) NULL CWH43 80157 genome.wustl.edu 37 4 48994066 48994066 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_025087.2 +1 validated p.L157P 0.975 362 0.3% 439 36.4% 4 75% probably_damaging(0.975) deleterious(0.01) deleterious(0.823) NULL REST 5978 genome.wustl.edu 37 4 57798265 57798265 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005612.3 +1 reviewed p.R1081C 1.000 147 0% 168 33.3% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 LIN54 132660 genome.wustl.edu 37 4 83857235 83857235 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_194282.2 -1 validated p.K582E 0.999 288 0% 408 37.3% 3 66.6% probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL DSPP 1834 genome.wustl.edu 37 4 88537322 88537322 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_014208.3 +1 reviewed p.D1170N 0.953 327 0% 234 19.2% 0 - unknown(0) - - NULL INTS12 57117 genome.wustl.edu 37 4 106616710 106616710 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001142471.1 -1 validated p.K91R 0.994 414 0.2% 498 33.9% 8 25% probably_damaging(0.996) tolerated(0.14) deleterious(0.711) NULL FAT4 79633 genome.wustl.edu 37 4 126242535 126242535 + Silent SNP A A C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_024582.4 +1 validated p.R1657 0.413 107 0% 111 39.6% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FBXW7 55294 genome.wustl.edu 37 4 153332570 153332570 + Missense_Mutation SNP T T G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_033632.2 -1 reviewed p.D129A 1.000 478 0% 450 34.7% 1 100% unknown(0) deleterious(0) - superfamily_WD40 repeat-like FHDC1 85462 genome.wustl.edu 37 4 153896811 153896811 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_033393.2 +1 validated p.D790N 0.308 36 0% 26 23.1% 0 - benign(0.079) deleterious(0.04) neutral(0.354) NULL GUCY1B3 2983 genome.wustl.edu 37 4 156725762 156725762 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_000857.2 +1 validated p.H524 1.000 214 0% 224 33.5% 2 0% - - - HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain ODZ3 55714 genome.wustl.edu 37 4 183676118 183676118 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001080477.1 +1 provisional p.T1533I 1.000 125 0% 150 33.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ConA_like_lec_gl,superfamily_SSF63829 ODZ3 55714 genome.wustl.edu 37 4 183714241 183714241 + Frame_Shift_Del DEL A A - novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001080477.1 +1 provisional p.T2140fs 1.000 - - - - - - - - - HMMPfam_RHS_repeat STOX2 56977 genome.wustl.edu 37 4 184828077 184828077 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_020225.1 +1 provisional p.A45V 0.999 43 0% 16 31.2% 0 - benign(0.006) tolerated(0.4) neutral(0.016) NULL FAT1 2195 genome.wustl.edu 37 4 187539907 187539907 + Missense_Mutation SNP T T G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005245.3 -1 reviewed p.K2611N 0.990 107 0% 120 36.7% 2 50% benign(0.11) tolerated(0.2) neutral(0.058) HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like TRIML1 339976 genome.wustl.edu 37 4 189060958 189060958 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_178556.3 +1 provisional p.R82 0.000 55 0% 33 51.5% 0 - - - - superfamily_SSF57850 SLC9A3 6550 genome.wustl.edu 37 5 488552 488552 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004174.2 -1 validated p.G185D 1.000 28 0% 14 42.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Na_H_Exchanger ANKH 56172 genome.wustl.edu 37 5 14749300 14749300 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_054027.4 -1 reviewed p.G268D 1.000 115 0% 71 32.4% 6 16.6% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_ANKH CDH18 1016 genome.wustl.edu 37 5 19483593 19483593 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004934.3 -1 reviewed p.P567S 1.000 171 0% 178 36.5% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin HCN1 348980 genome.wustl.edu 37 5 45353305 45353305 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_021072.2 -1 validated p.A425V 1.000 383 0% 401 37.2% 0 - benign(0) tolerated(0.34) neutral(0.023) superfamily_cNMP_binding DDX4 54514 genome.wustl.edu 37 5 55088515 55088515 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_024415.2 +1 validated p.R450H 1.000 179 0% 221 40.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_DEAD_ATP_HELICASE,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases HTR1A 3350 genome.wustl.edu 37 5 63257144 63257144 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_000524.2 -1 validated p.Y135H 1.000 69 1.4% 56 26.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like PIK3R1 5295 genome.wustl.edu 37 5 67591145 67591153 + Frame_Shift_Del DEL TACTTGATG TACTTGATG - novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 TACTTGATG TACTTGATG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_181523.1 +1 reviewed p.Y580fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL CMYA5 202333 genome.wustl.edu 37 5 79095242 79095242 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_153610.3 +1 validated p.R4005C 0.734 270 0% 334 38.6% 10 70% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_SPRY ACOT12 134526 genome.wustl.edu 37 5 80639995 80639995 + Nonsense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_130767.2 -1 validated p.R322* 1.000 156 0% 202 37.6% 0 - - - - NULL VCAN 1462 genome.wustl.edu 37 5 82837066 82837066 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004385.4 +1 reviewed p.Q2748 0.724 53 0% 85 34.1% 1 0% - - - NULL ZRSR1 7310 genome.wustl.edu 37 5 112228169 112228169 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000391338 +1 known p.Q278R 1.000 384 0% 471 38.6% 21 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_RRM,superfamily_SSF54928 PRRC1 133619 genome.wustl.edu 37 5 126887453 126887453 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_130809.3 +1 validated p.T395A 1.000 187 0% 201 39.3% 29 37.9% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) superfamily_Maf/Ham1 SLC12A2 6558 genome.wustl.edu 37 5 127469920 127469920 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001046.2 +1 validated p.V418M 1.000 441 0% 592 40.2% 0 - possibly_damaging(0.7) deleterious(0.01) deleterious(0.657) HMMPfam_AA_permease LECT2 3950 genome.wustl.edu 37 5 135290486 135290486 + Missense_Mutation SNP T T A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_002302.2 -1 reviewed p.I13F 0.980 172 0% 239 32.2% 0 - possibly_damaging(0.819) tolerated(0.05) deleterious(0.655) NULL SLC35A4 113829 genome.wustl.edu 37 5 139946759 139946759 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_080670.2 +1 provisional p.S2N 0.992 60 0% 30 30% 24 54.1% benign(0.002) tolerated(0.16) neutral(0.059) NULL PCDHA1 56147 genome.wustl.edu 37 5 140167916 140167916 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_018900.2 +1 reviewed p.R681W 0.002 39 0% 25 64% 0 - benign(0.009) deleterious(0.01) neutral(0.406) NULL PCDHGA11 56105 genome.wustl.edu 37 5 140802417 140802417 + Silent SNP G G A rs184432819 by1000genomes TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_018914.2 +1 reviewed p.P541 0.371 98 0% 79 32.9% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like GRXCR2 643226 genome.wustl.edu 37 5 145246177 145246177 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001080516.1 -1 provisional p.E151K 0.011 396 0% 451 34.6% 0 - benign(0.071) tolerated(0.35) neutral(0.026) NULL RMND5B 64777 genome.wustl.edu 37 5 177565138 177565138 + Nonsense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_022762.3 +1 provisional p.C6* 0.897 79 0% 54 29.6% 6 16.6% - - - NULL C5orf60 285679 genome.wustl.edu 37 5 179070006 179070006 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001142306.1 -1 provisional p.V183I 0.001 222 0% 139 43.9% 0 - benign(0.001) tolerated(0.71) neutral(0.002) NULL GFPT2 9945 genome.wustl.edu 37 5 179757797 179757797 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005110.2 -1 provisional p.T146I 1.000 571 0% 503 30.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GATase_2,superfamily_SSF56235 DSP 1832 genome.wustl.edu 37 6 7580229 7580229 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004415.2 +1 reviewed p.R1269Q 1.000 42 0% 35 42.9% 2 100% possibly_damaging(0.793) deleterious(0.03) deleterious(0.662) NULL GFOD1 54438 genome.wustl.edu 37 6 13365147 13365147 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_018988.2 -1 provisional p.A334V 1.000 18 0% 15 33.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRRC16A 55604 genome.wustl.edu 37 6 25551203 25551203 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_017640.5 +1 validated p.H798 1.000 382 0% 327 39.1% 2 0% - - - NULL BTN2A2 10385 genome.wustl.edu 37 6 26392810 26392810 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_006995.3 +1 reviewed p.V396A 0.847 460 0% 360 32.5% 1 0% possibly_damaging(0.806) deleterious(0.01) deleterious(0.709) HMMPfam_SPRY,HMMSmart_SM00449 KIFC1 3833 genome.wustl.edu 37 6 33373158 33373158 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_002263.3 +1 validated p.Q429R 0.973 62 0% 39 30.8% 24 50% probably_damaging(0.983) tolerated(0.33) neutral(0.453) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 BRPF3 27154 genome.wustl.edu 37 6 36181952 36181952 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_015695.2 +1 validated p.R926 0.990 72 0% 48 29.2% 2 50% - - - NULL CRISP3 10321 genome.wustl.edu 37 6 49701491 49701491 + Nonsense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_006061.1 -1 provisional p.W116* 0.705 292 0% 278 39.2% 0 - - - - HMMSmart_SCP,HMMPfam_SCP,superfamily_SCP-like_extracellular TFAP2B 7021 genome.wustl.edu 37 6 50791173 50791173 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_003221.3 +1 reviewed p.S45 0.753 65 1.5% 27 40.7% 3 0% - - - NULL BAG2 9532 genome.wustl.edu 37 6 57048723 57048723 + Missense_Mutation SNP T T G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004282.3 +1 reviewed p.F124C 1.000 276 0% 290 38.3% 21 52.3% possibly_damaging(0.44) deleterious(0.02) deleterious(0.526) HMMPfam_BAG,HMMSmart_BAG MYO6 4646 genome.wustl.edu 37 6 76564910 76564910 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004999.3 +1 reviewed p.L378S 1.000 281 0% 331 33.2% 7 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MDN1 23195 genome.wustl.edu 37 6 90387363 90387363 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_014611.1 -1 provisional p.E4155 0.943 439 0% 351 35.9% 4 0% - - - NULL AKD1 221264 genome.wustl.edu 37 6 109996911 109996911 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001145128.2 -1 provisional p.A13V 0.145 208 0% 246 34.6% 0 - benign(0.032) tolerated(0.17) neutral(0.060) NULL REV3L 5980 genome.wustl.edu 37 6 111696316 111696316 + Nonsense_Mutation SNP G G C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_002912.3 -1 validated p.S1081* 0.863 299 0% 428 32.9% 0 - - - - superfamily_Ribonuclease H-like DSE 29940 genome.wustl.edu 37 6 116747869 116747869 + Silent SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001080976.1 +1 reviewed p.N183 0.999 133 0% 164 29.3% 1 100% - - - NULL EPB41L2 2037 genome.wustl.edu 37 6 131215508 131215509 + Frame_Shift_Del DEL CA CA - novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001431.3 -1 validated p.C488fs 1.000:1.000 - - - - - - - - - HMMPfam_FERM_C,superfamily_SSF50729 KIAA1244 57221 genome.wustl.edu 37 6 138638433 138638433 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_020340.4 +1 validated p.A1464V 1.000 295 0% 295 41% 1 0% possibly_damaging(0.822) deleterious(0.04) deleterious(0.660) NULL SUN1 23353 genome.wustl.edu 37 7 912892 912892 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001130965.2 +1 reviewed p.R761Q 1.000 398 0% 412 32.5% 27 29.6% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMPfam_Sad1_UNC EIF3B 8662 genome.wustl.edu 37 7 2400400 2400400 + Silent SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001037283.1 +1 validated p.S185 0.042 161 0% 174 38.5% 28 39.2% - - - superfamily_RNA-binding domain RBD SLC29A4 222962 genome.wustl.edu 37 7 5336640 5336640 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001040661.1 +1 reviewed p.T231 0.520 4 0.000 5 0.800 1 0% - - - HMMPfam_Nucleoside_tran,superfamily_MFS general substrate transporter TNRC18 84629 genome.wustl.edu 37 7 5396613 5396613 + Missense_Mutation SNP T T G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001080495.2 -1 provisional p.K1710Q 1.000 176 0.6% 101 35.6% 23 65.2% possibly_damaging(0.847) tolerated(0.26) neutral(0.359) NULL ZDHHC4 55146 genome.wustl.edu 37 7 6621265 6621265 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001134387.1 +1 validated p.L49F 0.997 514 0% 724 34.5% 26 53.8% benign(0.122) tolerated(0.08) neutral(0.310) NULL SNX13 23161 genome.wustl.edu 37 7 17836527 17836527 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_015132.4 -1 reviewed p.A850V 0.999 453 0% 410 38.3% 4 50% benign(0) tolerated(0.25) neutral(0.037) HMMPfam_Nexin_C CHN2 1124 genome.wustl.edu 37 7 29552333 29552333 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004067.2 +1 reviewed p.N463 0.851 201 0% 208 30.8% 1 0% - - - HMMSmart_SM00324,superfamily_GTPase activation domain GAP BBS9 27241 genome.wustl.edu 37 7 33217164 33217164 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_198428.2 +1 reviewed p.A135T 1.000 329 0.3% 437 33% 0 - possibly_damaging(0.852) deleterious(0.04) deleterious(0.676) NULL GLI3 2737 genome.wustl.edu 37 7 42004734 42004734 + Nonsense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_000168.5 -1 reviewed p.Q1313* 0.008 26 0% 23 47.8% 0 - - - - NULL DBNL 28988 genome.wustl.edu 37 7 44092471 44092471 + Silent SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001122956.1 +1 validated p.G86 0.660 86 0% 57 22.8% 22 31.8% - - - HMMPfam_Cofilin_ADF,HMMSmart_ADF,superfamily_SSF55753 OGDH 4967 genome.wustl.edu 37 7 44687269 44687269 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_002541.3 +1 reviewed p.H143R 1.000 225 0% 220 31.8% 4 25% benign(0) tolerated(0.41) neutral(0.015) superfamily_SSF52518 ABCA13 154664 genome.wustl.edu 37 7 48428763 48428763 + Missense_Mutation SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_152701.3 +1 reviewed p.R3867I 0.498 83 0% 78 35.9% 0 - benign(0.163) - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases GRB10 2887 genome.wustl.edu 37 7 50674041 50674041 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005311.4 -1 reviewed p.T422M 0.455 133 0% 99 31.3% 13 69.2% possibly_damaging(0.811) tolerated(0.08) deleterious(0.605) NULL RABGEF1 27342 genome.wustl.edu 37 7 66273875 66273875 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_014504.2 +1 validated p.C360 1.000 220 0% 253 37.5% 10 60% - - - HMMPfam_VPS9,HMMSmart_VPS9,superfamily_SSF109993 POM121 9883 genome.wustl.edu 37 7 72414058 72414058 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_172020.1 +1 reviewed p.G911R 1.000 105 0% 93 26.9% 7 14.2% unknown(0) tolerated(0.16) - NULL NSUN5P2 260294 genome.wustl.edu 37 7 72419244 72419244 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000330999 -1 known p.F233L 1.000 253 0% 182 30.2% 32 12.5% - - - HMMPfam_Nol1_Nop2_Fmu,superfamily_S-adenosyl-L-methionine-dependent methyltransferases AKAP9 10142 genome.wustl.edu 37 7 91707017 91707017 + Missense_Mutation SNP T T A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005751.4 +1 reviewed p.M2258K 1.000 203 0% 292 43.5% 1 0% possibly_damaging(0.812) tolerated(0.27) neutral(0.339) NULL ANKIB1 54467 genome.wustl.edu 37 7 91972427 91972427 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_019004.1 +1 validated p.P293S 1.000 305 0% 342 33.3% 0 - benign(0.114) deleterious(0.03) neutral(0.373) superfamily_ANK COL1A2 1278 genome.wustl.edu 37 7 94048853 94048853 + Missense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_000089.3 +1 reviewed p.T690K 0.978 502 0% 494 39.1% 117 0.8% unknown(0) tolerated(0.3) - NULL NPTX2 4885 genome.wustl.edu 37 7 98257798 98257798 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_002523.2 +1 reviewed p.A385T 0.915 128 0% 92 32.6% 1 100% benign(0) tolerated(0.09) neutral(0.296) HMMPfam_Pentaxin,HMMSmart_SM00159,superfamily_Concanavalin A-like lectins/glucanases MUC12 10071 genome.wustl.edu 37 7 100634091 100634091 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000379442 +1 known p.V226I 0.002 354 0% 441 40.4% 0 - benign(0.29) - - NULL MUC12 10071 genome.wustl.edu 37 7 100648379 100648379 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000379442 +1 known p.G4988 0.000 351 0% 340 32.4% 1 0% - - - NULL CLDN15 24146 genome.wustl.edu 37 7 100877592 100877592 + Missense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_014343.2 -1 reviewed p.A117S 0.989 23 0% 12 41.7% 5 20% benign(0.008) deleterious(0.05) neutral(0.345) HMMPfam_PMP22_Claudin CUX1 1523 genome.wustl.edu 37 7 101840033 101840033 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_181552.2 +1 reviewed p.T448A 1.000 44 0% 39 25.6% 1 0% possibly_damaging(0.787) tolerated(0.89) neutral(0.294) NULL ALKBH4 54784 genome.wustl.edu 37 7 102100199 102100199 + Missense_Mutation SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_017621.2 -1 provisional p.T58K 0.102 51 0% 31 45.2% 6 50% benign(0.006) tolerated(0.84) neutral(0.001) NULL C7orf58 79974 genome.wustl.edu 37 7 120655844 120655844 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_024913.4 +1 validated p.T125 0.000 89 1.1% 106 34% 0 - - - - NULL WNT16 51384 genome.wustl.edu 37 7 120969732 120969732 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_057168.1 +1 reviewed p.S69 1.000 42 0% 24 45.8% 0 - - - - HMMPfam_wnt,HMMSmart_SM00097 RNF148 378925 genome.wustl.edu 37 7 122342250 122342250 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_198085.1 -1 validated p.Q185 0.003 135 0% 120 16.7% 0 - - - - superfamily_SSF52025 SPAM1 6677 genome.wustl.edu 37 7 123600010 123600010 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_153189.2 +1 reviewed p.V506A 0.000 174 0% 113 15% 0 - unknown(0) deleterious(0) - NULL KIAA1549 57670 genome.wustl.edu 37 7 138529082 138529082 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_020910.2 -1 validated p.R1761Q 1.000 53 0% 36 63.9% 1 0% probably_damaging(1) tolerated(0.26) deleterious(0.534) NULL TAS2R3 50831 genome.wustl.edu 37 7 141464848 141464848 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_016943.2 +1 reviewed p.V297A 0.000 162 0% 195 33.8% 0 - benign(0) tolerated(0.38) neutral(0.018) HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like INTS10 55174 genome.wustl.edu 37 8 19677916 19677916 + Missense_Mutation SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_018142.2 +1 validated p.V110F 0.975 303 0% 355 36.1% 10 30% possibly_damaging(0.882) deleterious(0.01) deleterious(0.750) NULL TRIM35 23087 genome.wustl.edu 37 8 27145295 27145295 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_171982.3 -1 validated p.S418 0.001 26 0.000 9 0.444 3 66.6% - - - HMMPfam_SPRY,HMMSmart_SM00449 SCARA5 286133 genome.wustl.edu 37 8 27779094 27779094 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_173833.4 -1 provisional p.A304T 0.295 27 0% 15 60% 0 - benign(0.323) - - NULL ANK1 286 genome.wustl.edu 37 8 41526061 41526061 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001142446.1 -1 reviewed p.D1747 0.369 95 1.1% 66 30.3% 1 0% - - - NULL PLAT 5327 genome.wustl.edu 37 8 42037773 42037773 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_000930.3 -1 reviewed p.Y403 0.010 202 0% 184 29.9% 17 0% - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases ENSG00000235531 0 genome.wustl.edu 37 8 72965926 72965926 + RNA SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000457356 +1 known NULL 0.000 91 0% 77 27.3% 0 - - - - - CA3 761 genome.wustl.edu 37 8 86360276 86360276 + Missense_Mutation SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005181.3 +1 reviewed p.R226L 1.000 56 0% 48 43.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd VPS13B 157680 genome.wustl.edu 37 8 100287478 100287478 + Silent SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_017890.3 +1 reviewed p.N940 0.927 145 0% 181 34.8% 0 - - - - NULL RGS22 26166 genome.wustl.edu 37 8 101092471 101092471 + Missense_Mutation SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_015668.3 -1 validated p.P77H 1.000 340 0% 488 35.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SNX31 169166 genome.wustl.edu 37 8 101624297 101624297 + Missense_Mutation SNP T T A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_152628.3 -1 validated p.D181V 0.988 307 0% 361 33.8% 0 - probably_damaging(0.982) deleterious(0.04) deleterious(0.775) NULL KCNQ3 3786 genome.wustl.edu 37 8 133141814 133141814 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004519.2 -1 reviewed p.D772N 0.258 65 0% 41 36.6% 1 0% benign(0.079) deleterious(0.02) neutral(0.389) NULL WISP1 8840 genome.wustl.edu 37 8 134225306 134225306 + Missense_Mutation SNP C C G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_003882.2 +1 reviewed p.A90G 0.998 33 0% 22 36.4% 1 100% probably_damaging(0.996) tolerated(0.11) deleterious(0.733) HMMPfam_IGFBP,HMMSmart_SM00121 EPPK1 83481 genome.wustl.edu 37 8 144945810 144945810 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_031308.1 -1 validated p.V538M 0.000 12 0% 19 31.6% 1 0% probably_damaging(0.976) deleterious(0.04) deleterious(0.767) NULL PLEC 5339 genome.wustl.edu 37 8 145005756 145005756 + Silent SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_201380.2 -1 reviewed p.S887 0.891 64 0% 40 40% 4 0% - - - HMMSmart_SM00150,superfamily_Spectrin repeat SMARCA2 6595 genome.wustl.edu 37 9 2161875 2161875 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_003070.3 +1 reviewed p.I1391V 1.000 124 0.8% 137 25.5% 20 45% benign(0) tolerated(0.89) - HMMSmart_SM00297,superfamily_Bromodomain KIAA2026 158358 genome.wustl.edu 37 9 5919925 5919925 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001017969.2 -1 validated p.C2024Y 0.345 265 0% 282 14.5% 17 35.2% benign(0.006) tolerated(0.24) neutral(0.037) NULL MPDZ 8777 genome.wustl.edu 37 9 13119573 13119573 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000437441 -1 known p.R217G 0.999 281 0% 326 36.8% 5 20% - - - HMMSmart_SM00228 TTC39B 158219 genome.wustl.edu 37 9 15185349 15185349 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_152574.2 -1 validated p.F449L 1.000 113 0% 84 31% 2 50% probably_damaging(0.993) deleterious(0.05) deleterious(0.795) HMMPfam_Deme6,superfamily_TPR-like IFNA8 3445 genome.wustl.edu 37 9 21409203 21409203 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_002170.3 +1 validated p.A10T 0.691 275 0.4% 230 36.1% 0 - benign(0.03) deleterious(0.03) neutral(0.366) HMMPfam_Interferon GALT 2592 genome.wustl.edu 37 9 34648368 34648368 + Missense_Mutation SNP G G A rs111033735 TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_000155.2 +1 reviewed p.R201H 0.997 141 0% 122 46.7% 21 19% probably_damaging(0.995) tolerated(0.23) deleterious(0.499) superfamily_HIT-like UNC13B 10497 genome.wustl.edu 37 9 35376148 35376148 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_006377.3 +1 reviewed p.L498F 1.000 139 0% 133 34.6% 1 100% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_SSF57889 RUSC2 9853 genome.wustl.edu 37 9 35556389 35556389 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001135999.1 +1 validated p.C976Y 1.000 146 0% 131 45% 3 66.6% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL CNTNAP3 79937 genome.wustl.edu 37 9 39085805 39085805 + Missense_Mutation SNP T T G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_033655.3 -1 reviewed p.K1124Q 0.751 462 0% 533 33.4% 0 - benign(0.095) tolerated(0.57) neutral(0.013) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 PGM5 5239 genome.wustl.edu 37 9 71007332 71007332 + Missense_Mutation SNP G G A rs2491891 TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_021965.3 +1 validated p.R329H 1.000 283 0% 173 8.7% 0 - possibly_damaging(0.64) deleterious(0.01) deleterious(0.630) HMMPfam_PGM_PMM_III,superfamily_Phosphoglucomutase first 3 domains TRPM3 80036 genome.wustl.edu 37 9 73426150 73426150 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_206946.3 -1 reviewed p.P175 1.000 275 0% 325 34.5% 0 - - - - NULL ALDH1A1 216 genome.wustl.edu 37 9 75567907 75567907 + Missense_Mutation SNP A A C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_000689.3 -1 reviewed p.S4A 0.012 246 0% 198 31.3% 2 0% benign(0.028) tolerated(0.5) neutral(0.011) superfamily_ALDH-like TLE4 7091 genome.wustl.edu 37 9 82334975 82334975 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_007005.3 +1 validated p.Y535 1.000 141 0% 171 41.5% 2 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 SECISBP2 79048 genome.wustl.edu 37 9 91934606 91934606 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_024077.3 +1 reviewed p.R26G 1.000 355 0% 353 32.6% 0 - possibly_damaging(0.655) deleterious(0.01) deleterious(0.636) NULL WNK2 65268 genome.wustl.edu 37 9 96026309 96026309 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000432730 +1 known p.R1226H 0.115 146 0% 97 32% 5 20% - - - NULL INVS 27130 genome.wustl.edu 37 9 102988359 102988359 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_014425.2 +1 reviewed p.M97V 1.000 93 0% 131 22.1% 4 50% benign(0.004) tolerated(1) - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat RNF20 56254 genome.wustl.edu 37 9 104314675 104314675 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_019592.5 +1 reviewed p.R514H 1.000 110 0% 105 40% 13 46.1% unknown(0) deleterious(0.03) - NULL OR13D1 286365 genome.wustl.edu 37 9 107457497 107457500 + Frame_Shift_Del DEL AAGA AAGA - novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 AAGA AAGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001004484.1 +1 provisional p.K268fs 0.007:0.009:0.025:0.081 - - - - - - - - - HMMPfam_7tm_1,superfamily_SSF81321 NEK6 10783 genome.wustl.edu 37 9 127074815 127074815 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001145001.2 +1 reviewed p.C74R 1.000 78 0% 55 34.5% 22 40.9% benign(0.059) tolerated(0.37) neutral(0.023) superfamily_Protein kinase-like (PK-like) ANGPTL2 23452 genome.wustl.edu 37 9 129854027 129854027 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_012098.2 -1 reviewed p.G402S 1.000 105 0% 81 33.3% 11 9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fibrinogen_C,HMMSmart_FBG,superfamily_Fibrinogen_a/b/g_C ANGPTL2 23452 genome.wustl.edu 37 9 129870657 129870657 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_012098.2 -1 reviewed p.S118 0.853 35 0% 26 50% 7 0% - - - NULL SETX 23064 genome.wustl.edu 37 9 135221699 135221699 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_015046.5 -1 reviewed p.P113S 1.000 312 0% 424 16.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMEM8C 389827 genome.wustl.edu 37 9 136379868 136379868 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001080483.2 -1 validated p.A186T 0.997 129 0% 88 37.5% 0 - benign(0.06) tolerated(0.07) neutral(0.323) NULL SNAPC4 6621 genome.wustl.edu 37 9 139287148 139287148 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_003086.2 -1 validated p.A238 0.000 88 0% 64 35.9% 3 33.3% - - - HMMSmart_SANT C9orf163 158055 genome.wustl.edu 37 9 139379396 139379396 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_152571.2 +1 validated p.R166G 0.000 130 0% 64 20.3% 0 - unknown(0) - - NULL FAM157B 100132403 genome.wustl.edu 37 9 141109864 141109864 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001145249.1 +1 inferred p.F165L 0.000 232 0% 178 36% 0 - - - - NULL DIP2C 22982 genome.wustl.edu 37 10 373085 373085 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_014974.2 -1 reviewed p.T1262I 1.000 59 0% 37 43.2% 0 - benign(0.157) deleterious(0.02) neutral(0.397) HMMPfam_AMP-binding,superfamily_SSF56801 FAM208B 54906 genome.wustl.edu 37 10 5791121 5791121 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_017782.4 +1 validated p.V1913I 0.006 41 0% 59 39% 9 55.5% benign(0.009) tolerated(1) neutral(0.001) NULL PFKFB3 5209 genome.wustl.edu 37 10 6263658 6263658 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004566.3 +1 validated p.Y345H 1.000 30 0% 19 68.4% 9 33.3% possibly_damaging(0.49) deleterious(0) deleterious(0.608) HMMPfam_PGAM,superfamily_Phosphoglycerate mutase-like SFMBT2 57713 genome.wustl.edu 37 10 7409769 7409769 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001029880.1 -1 provisional p.V93A 1.000 116 0% 83 20.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT ARHGAP21 57584 genome.wustl.edu 37 10 24908930 24908930 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_020824.3 -1 validated p.H632Y 0.082 312 0% 318 30.2% 4 25% benign(0) tolerated(1) - NULL MYO3A 53904 genome.wustl.edu 37 10 26465739 26465739 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_017433.4 +1 reviewed p.I1468T 0.059 172 0% 200 45.5% 0 - benign(0) tolerated(0.39) neutral(0.016) NULL MASTL 84930 genome.wustl.edu 37 10 27450076 27450076 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_032844.3 +1 reviewed p.T173M 1.000 279 0% 341 38.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like,HMMPfam_Pkinase RAB18 22931 genome.wustl.edu 37 10 27821453 27821453 + Nonsense_Mutation SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000423465 +1 known p.E181* 0.822 342 0% 439 31.7% 24 33.3% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases LOC645954 645954 genome.wustl.edu 37 10 30984931 30984931 + RNA SNP A A C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 XR_017086.3 +1 model NULL 1.000 140 0% 100 38% 1 0% - - - - RET 5979 genome.wustl.edu 37 10 43606743 43606743 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_020975.4 +1 reviewed p.T451M 0.006 98 0% 64 32.8% 9 22.2% benign(0.416) deleterious(0) deleterious(0.579) NULL SYT15 83849 genome.wustl.edu 37 10 46968705 46968705 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_031912.3 -1 reviewed p.F77 0.260 109 0% 66 15.2% 0 - - - - NULL GPRIN2 9721 genome.wustl.edu 37 10 47000212 47000212 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_014696.3 +1 validated p.L444 0.891 53 0% 27 22.2% 0 - - - - NULL TMEM26 219623 genome.wustl.edu 37 10 63188801 63188801 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_178505.6 -1 validated p.L163P 0.983 237 0% 168 37.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tmem26 C10orf105 414152 genome.wustl.edu 37 10 73476025 73476025 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000441508 -1 known p.V24I 0.001 94 0% 62 53.2% 0 - benign(0.007) - - NULL CDH23 64072 genome.wustl.edu 37 10 73553090 73553090 + Missense_Mutation SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_022124.5 +1 reviewed p.E2135D 1.000 35 0% 39 28.2% 0 - probably_damaging(0.992) tolerated(0.47) neutral(0.459) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like TSPAN14 81619 genome.wustl.edu 37 10 82276053 82276053 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_030927.2 +1 validated p.V239I 0.990 74 0% 60 36.7% 27 51.8% benign(0.002) tolerated(0.54) neutral(0.007) HMMPfam_Tetraspannin PTEN 5728 genome.wustl.edu 37 10 89692953 89692953 + Nonsense_Mutation SNP T T A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000371953 +1 known p.L146* 1.000 206 0% 270 36.7% 29 3.4% - - - HMMPfam_DSPc,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II O3FAR1 338557 genome.wustl.edu 37 10 95347178 95347178 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_181745.2 +1 validated p.P316S 1.000 479 0% 459 32.7% 2 0% possibly_damaging(0.858) tolerated(0.81) neutral(0.332) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TBC1D12 23232 genome.wustl.edu 37 10 96234437 96234437 + Nonsense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_015188.1 +1 validated p.R370* 1.000 221 0% 299 22.4% 0 - - - - NULL CC2D2B 387707 genome.wustl.edu 37 10 97775979 97775979 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001001732.3 +1 validated p.G144R 1.000 296 0% 324 32.4% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL NFKB2 4791 genome.wustl.edu 37 10 104158597 104158597 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001077494.1 +1 validated p.G365R 1.000 33 0% 19 63.2% 21 47.6% benign(0.002) tolerated(0.54) neutral(0.007) NULL PDCD11 22984 genome.wustl.edu 37 10 105205262 105205262 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_014976.1 +1 validated p.A1858T 1.000 145 0% 144 37.5% 41 34.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ITPRIP 85450 genome.wustl.edu 37 10 106074997 106074997 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_033397.2 -1 provisional p.H271 0.301 37 0% 29 27.6% 0 - - - - NULL NHLRC2 374354 genome.wustl.edu 37 10 115668135 115668135 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_198514.2 +1 provisional p.L674S 0.084 228 0% 270 40.4% 4 25% benign(0) tolerated(0.24) neutral(0.037) NULL ENSG00000222588 0 genome.wustl.edu 37 10 120820505 120820505 + RNA SNP A A C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000410656 -1 novel NULL 1.000 8 0.000 16 0.562 0 - - - - - CTBP2 1488 genome.wustl.edu 37 10 126716053 126716053 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_022802.2 -1 reviewed p.Y92 0.998 45 0% 24 45.8% 0 - - - - NULL SIGIRR 59307 genome.wustl.edu 37 11 408744 408744 + Missense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001135053.1 -1 validated p.G53W 0.983 44 0% 30 30% 55 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Immunoglobulin TNNT3 7140 genome.wustl.edu 37 11 1959704 1959704 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_006757.3 +1 reviewed p.V253 1.000 45 0% 27 40.7% 0 - - - - NULL TSPAN32 10077 genome.wustl.edu 37 11 2338609 2338609 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_139022.2 +1 reviewed p.L252S 0.154 114 0% 91 34.1% 1 0% benign(0.027) deleterious(0.03) neutral(0.366) NULL CHRNA10 57053 genome.wustl.edu 37 11 3690539 3690539 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_020402.2 -1 provisional p.R83 1.000 111 0% 97 27.8% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD RHOG 391 genome.wustl.edu 37 11 3849260 3849260 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001665.3 -1 validated p.F37L 1.000 68 0% 92 26.1% 43 32.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases OR56A1 120796 genome.wustl.edu 37 11 6048134 6048134 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001001917.2 -1 validated p.L267 0.001 144 0% 132 40.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 USP47 55031 genome.wustl.edu 37 11 11906129 11906129 + Splice_Site SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_017944.3 +1 validated e2+2 1.000 99 0% 136 29.4% 16 100% - - - - USP47 55031 genome.wustl.edu 37 11 11969622 11969622 + Frame_Shift_Del DEL C C - novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_017944.3 +1 validated p.S1006fs 1.000 - - - - - - - - - NULL NAV2 89797 genome.wustl.edu 37 11 19970342 19970342 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_182964.5 +1 validated p.Q787 1.000 48 0% 43 34.9% 0 - - - - NULL OR5M11 219487 genome.wustl.edu 37 11 56310329 56310329 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001005245.1 -1 provisional p.T135 0.997 111 0% 120 38.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR9G4 283189 genome.wustl.edu 37 11 56510890 56510890 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001005284.1 -1 provisional p.M133T 1.000 81 0% 80 16.3% 0 - possibly_damaging(0.667) deleterious(0.01) deleterious(0.641) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 TRMT112 51504 genome.wustl.edu 37 11 64084574 64084574 + Nonsense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_016404.1 -1 provisional p.E76* 0.150 176 0% 82 36.6% 635 30.7% - - - HMMPfam_Trm112p SCYL1 57410 genome.wustl.edu 37 11 65304124 65304124 + Silent SNP C C A rs56296579 byCluster;byFrequency;by1000genomes TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_020680.3 +1 reviewed p.A573 0.567 170 0% 109 18.3% 85 28.2% - - - superfamily_ARM repeat AP5B1 91056 genome.wustl.edu 37 11 65546878 65546878 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_138368.3 -1 validated p.P305 0.000 17 0% 10 40% 6 50% - - - NULL SF3B2 10992 genome.wustl.edu 37 11 65830574 65830574 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_006842.2 +1 reviewed p.A691V 1.000 348 0% 322 32% 137 42.3% benign(0) tolerated(0.32) neutral(0.024) NULL INPPL1 3636 genome.wustl.edu 37 11 71940583 71940583 + Missense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001567.3 +1 reviewed p.T245N 0.999 120 0% 124 37.1% 19 36.8% benign(0.075) deleterious(0.01) neutral(0.411) NULL CLPB 81570 genome.wustl.edu 37 11 72084036 72084036 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_030813.3 -1 provisional p.S223 0.999 106 0.9% 72 41.7% 0 - unknown(0) - - superfamily_Ankyrin repeat RPS3 6188 genome.wustl.edu 37 11 75115793 75115793 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001005.3 +1 reviewed p.D206N 1.000 141 0% 120 31.7% 6307 45.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DLG2 1740 genome.wustl.edu 37 11 83252789 83252789 + Nonsense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001142699.1 -1 reviewed p.Q685* 1.000 126 0% 122 41.8% 0 - - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain KIAA1377 57562 genome.wustl.edu 37 11 101833784 101833784 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_020802.2 +1 validated p.I673T 0.000 76 0% 93 31.2% 0 - benign(0.323) tolerated(0.06) neutral(0.423) NULL YAP1 10413 genome.wustl.edu 37 11 102080261 102080261 + Missense_Mutation SNP T T A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001130145.1 +1 reviewed p.I333N 1.000 388 0% 507 37.9% 5 20% benign(0.132) deleterious(0) neutral(0.456) NULL LOC100132686 100132686 genome.wustl.edu 37 11 112131411 112131411 + RNA SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 XR_078450.1 +1 model NULL 1.000 46 0% 29 34.5% 0 - - - - - NLRX1 79671 genome.wustl.edu 37 11 119045752 119045752 + Silent SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_024618.2 +1 reviewed p.P480 0.146 64 0% 62 32.3% 6 16.6% - - - NULL ROBO3 64221 genome.wustl.edu 37 11 124745853 124745853 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_022370.3 +1 reviewed p.W809R 1.000 64 0% 38 39.5% 0 - possibly_damaging(0.787) deleterious(0.03) deleterious(0.659) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ROBO4 54538 genome.wustl.edu 37 11 124766464 124766464 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_019055.5 -1 validated p.T168I 0.458 62 0% 43 51.2% 4 0% benign(0.014) deleterious(0.04) neutral(0.349) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin RPUSD4 84881 genome.wustl.edu 37 11 126080787 126080787 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_032795.2 -1 validated p.H118R 1.000 122 0% 85 23.5% 9 11.1% possibly_damaging(0.546) tolerated(0.24) neutral(0.223) HMMPfam_PseudoU_synth_2,superfamily_PsdUridine_synth_cat_dom WNK1 65125 genome.wustl.edu 37 12 1005416 1005416 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_018979.3 +1 reviewed p.V1921 0.869 164 0% 184 41.3% 13 15.3% - - - NULL LEPREL2 10536 genome.wustl.edu 37 12 6946611 6946611 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000290510 +1 known p.S528G 0.404 50 0% 25 28% 5 40% benign(0.025) tolerated(0.48) neutral(0.011) HMMSmart_SM00702 AEBP2 121536 genome.wustl.edu 37 12 19615572 19615572 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001114176.1 +1 validated p.Q267R 1.000 443 0% 502 31.5% 4 25% possibly_damaging(0.435) tolerated(0.42) neutral(0.156) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 byCluster TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_033360.2 -1 reviewed p.G12D 1.000 323 0% 381 40.2% 4 25% possibly_damaging(0.886) deleterious(0) deleterious(0.791) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases DENND5B 160518 genome.wustl.edu 37 12 31577615 31577615 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_144973.3 -1 validated p.R749C 1.000 390 0% 389 21.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C12orf35 55196 genome.wustl.edu 37 12 32138573 32138573 + Missense_Mutation SNP A A C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_018169.3 +1 validated p.S1562R 0.002 169 0% 228 29.4% 23 52.1% possibly_damaging(0.846) tolerated(0.26) neutral(0.359) NULL PFKM 5213 genome.wustl.edu 37 12 48534624 48534624 + Silent SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_000289.5 +1 reviewed p.H437 0.992 136 0% 98 37.8% 1 0% - - - HMMPfam_PFK,superfamily_Phosphofructokinase MLL2 8085 genome.wustl.edu 37 12 49438067 49438067 + Nonsense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_003482.3 -1 validated p.R1702* 1.000 112 0% 106 40.6% 1 0% - - - NULL FMNL3 91010 genome.wustl.edu 37 12 50050228 50050228 + Missense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_175736.4 -1 validated p.G282C 1.000 138 0% 137 34.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Drf_FH3 LIMA1 51474 genome.wustl.edu 37 12 50616128 50616128 + Missense_Mutation SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001113546.1 -1 validated p.D102E 0.950 177 0.6% 187 28.9% 7 0% benign(0.001) deleterious(0.03) neutral(0.364) NULL KRT75 9119 genome.wustl.edu 37 12 52822456 52822456 + Missense_Mutation SNP T T G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004693.2 -1 reviewed p.E369D 0.498 445 0% 417 33.8% 0 - possibly_damaging(0.536) tolerated(0.14) neutral(0.430) superfamily_Prefoldin,HMMPfam_Filament KIAA0748 9840 genome.wustl.edu 37 12 55356889 55356889 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001098815.1 -1 validated p.P265S 0.999 186 0% 201 28.9% 4 0% probably_damaging(0.999) tolerated(0.11) deleterious(0.762) NULL RNF41 10193 genome.wustl.edu 37 12 56601490 56601490 + Missense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005785.2 -1 reviewed p.R181L 1.000 421 0% 492 42.9% 16 56.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_USP8_interact CNPY2 10330 genome.wustl.edu 37 12 56705098 56705098 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_014255.4 -1 validated p.R102H 1.000 300 0% 334 38% 264 38.2% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL AGAP2 116986 genome.wustl.edu 37 12 58131221 58131221 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001122772.1 -1 validated p.K270R 1.000 60 0% 50 42% 1 0% possibly_damaging(0.875) deleterious(0) deleterious(0.784) NULL BEST3 144453 genome.wustl.edu 37 12 70066683 70066683 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_032735.2 -1 validated p.C310 1.000 453 0% 551 37.6% 0 - - - - HMMPfam_Bestrophin MGAT4C 25834 genome.wustl.edu 37 12 86373690 86373690 + Missense_Mutation SNP A A C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_013244.3 -1 validated p.L272V 0.918 102 0% 132 37.9% 1 0% probably_damaging(0.967) tolerated(0.11) deleterious(0.680) HMMPfam_Glyco_transf_54 KITLG 4254 genome.wustl.edu 37 12 88939596 88939596 + Missense_Mutation SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_000899.3 -1 reviewed p.P21H 1.000 261 0% 293 37.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SCF CCDC38 120935 genome.wustl.edu 37 12 96273519 96273519 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_182496.2 -1 validated p.L349 1.000 369 0% 460 37.8% 0 - - - - NULL APAF1 317 genome.wustl.edu 37 12 99042272 99042272 + Silent SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_181861.1 +1 reviewed p.N45 0.544 135 0% 198 38.4% 0 - - - - HMMPfam_CARD,superfamily_WD40 repeat-like GOLGA2P5 55592 genome.wustl.edu 37 12 100560229 100560229 + RNA SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NR_024261.1 -1 validated NULL 0.035 27 0% 32 46.9% 5 80% - - - - GNPTAB 79158 genome.wustl.edu 37 12 102164260 102164260 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_024312.4 -1 reviewed p.I346T 1.000 142 0% 188 18.1% 6 0% possibly_damaging(0.673) deleterious(0) deleterious(0.683) NULL ALDH1L2 160428 genome.wustl.edu 37 12 105420413 105420413 + Missense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001034173.3 -1 reviewed p.A876S 1.000 306 0% 359 32.3% 0 - probably_damaging(0.992) deleterious(0.03) deleterious(0.812) HMMPfam_Aldedh,superfamily_ALDH-like CKAP4 10970 genome.wustl.edu 37 12 106633701 106633701 + Nonsense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_006825.3 -1 validated p.E304* 0.729 206 0% 181 33.1% 30 13.3% - - - NULL ENSG00000247270 0 genome.wustl.edu 37 12 108133066 108133066 + RNA SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000500685 +1 known NULL 0.000 70 0% 50 34% 0 - - - - - C12orf52 84934 genome.wustl.edu 37 12 113624752 113624752 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_032848.1 +1 predicted p.G67 0.000 95 0% 57 21.1% 13 38.4% - - - NULL SLC24A6 80024 genome.wustl.edu 37 12 113770675 113770675 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_024959.2 -1 validated p.G3 0.009 37 0% 46 39.1% 3 33.3% - - - NULL HPD 3242 genome.wustl.edu 37 12 122281717 122281718 + Frame_Shift_Del DEL CT CT - rs142252243 by1000genomes TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_002150.2 -1 reviewed p.G285fs 1.000:0.977 - - - - - - - - - HMMPfam_Glyoxalase,superfamily_Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase RSRC2 65117 genome.wustl.edu 37 12 123005052 123005052 + Frame_Shift_Del DEL T T - novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_198261.2 -1 validated p.R3fs 1.000 - - - - - - - - - NULL ABCB9 23457 genome.wustl.edu 37 12 123430617 123430617 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_019625.3 -1 reviewed p.N402 1.000 92 0% 57 22.8% 3 33.3% - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain DNAH10 196385 genome.wustl.edu 37 12 124379252 124379252 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_207437.3 +1 validated p.V2970I 0.996 307 0% 293 38.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL AACS 65985 genome.wustl.edu 37 12 125613907 125613907 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_023928.3 +1 validated p.E484K 1.000 209 0% 189 38.6% 20 35% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like SKA3 221150 genome.wustl.edu 37 13 21742505 21742505 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000314759 -1 known p.E122G 0.003 111 0% 152 38.2% 5 40% benign(0.008) tolerated(0.16) neutral(0.059) NULL C1QTNF9B 387911 genome.wustl.edu 37 13 24466173 24466173 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001007537.1 -1 provisional p.G86D 1.000 414 0% 452 19.7% 1 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL LNX2 222484 genome.wustl.edu 37 13 28136705 28136705 + Nonsense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_153371.3 -1 validated p.R357* 1.000 319 0% 270 35.9% 0 - - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ MTUS2 23281 genome.wustl.edu 37 13 30054376 30054376 + Nonsense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001033602.2 +1 validated p.Q1102* 1.000 14 0% 16 43.8% 0 - - - - NULL WBP4 11193 genome.wustl.edu 37 13 41639194 41639194 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_007187.3 +1 reviewed p.V40M 1.000 436 0% 621 34.3% 9 55.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_ZnF_U1,HMMPfam_zf-U1,superfamily_SSF57667 DGKH 160851 genome.wustl.edu 37 13 42763329 42763329 + Missense_Mutation SNP T T A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_178009.2 +1 reviewed p.L599H 0.129 230 0% 198 33.3% 2 50% benign(0.002) tolerated(0.13) neutral(0.253) NULL CYSLTR2 57105 genome.wustl.edu 37 13 49281358 49281358 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_020377.2 +1 reviewed p.V135 0.805 459 0% 402 40% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MLNR 2862 genome.wustl.edu 37 13 49796220 49796220 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001507.1 +1 provisional p.V316I 0.967 181 0% 205 40.5% 0 - benign(0.069) tolerated(0.21) neutral(0.048) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CKAP2 26586 genome.wustl.edu 37 13 53035694 53035694 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001098525.1 +1 validated p.T246A 0.000 244 0% 298 12.4% 15 26.6% benign(0.01) tolerated(0.8) neutral(0.001) NULL MBNL2 10150 genome.wustl.edu 37 13 98009870 98009870 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_144778.2 +1 reviewed p.H313 0.999 133 0% 149 31.5% 4 25% - - - NULL MYO16 23026 genome.wustl.edu 37 13 109318443 109318443 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_015011.1 +1 validated p.F58L 0.935 74 0% 100 39% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Ankyrin repeat ADPRHL1 113622 genome.wustl.edu 37 13 114077175 114077175 + Missense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_138430.3 -1 validated p.G343C 1.000 84 0% 54 44.4% 9 77.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ADP-ribosylglycohydrolase PCK2 5106 genome.wustl.edu 37 14 24572070 24572070 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004563.2 +1 reviewed p.A448V 1.000 70 0% 76 10.5% 21 19% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_PEPCK,superfamily_PEP carboxykinase-like LTB4R2 56413 genome.wustl.edu 37 14 24780759 24780759 + Missense_Mutation SNP C C G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_019839.4 +1 validated p.P328A 0.997 48 0% 24 33.3% 0 - possibly_damaging(0.921) tolerated(0.48) neutral(0.382) NULL STRN3 29966 genome.wustl.edu 37 14 31420108 31420108 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001083893.1 -1 validated p.S168N 1.000 342 0% 400 43.2% 2 0% benign(0.057) tolerated(0.07) neutral(0.323) HMMPfam_Striatin METTL21D 79609 genome.wustl.edu 37 14 50582599 50582599 + Silent SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_024558.2 -1 validated p.P136 0.437 167 0% 202 31.7% 2 50% benign(0) tolerated(0.63) neutral(0.004) HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases GPHN 10243 genome.wustl.edu 37 14 67647553 67647553 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_020806.4 +1 reviewed p.R737C 1.000 266 0% 267 34.5% 20 50% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_MoeA_C,superfamily_MoeA_C NUMB 8650 genome.wustl.edu 37 14 73743688 73743688 + Silent SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001005743.1 -1 reviewed p.P518 1.000 110 0% 69 40.6% 45 42.2% - - - NULL UNC79 57578 genome.wustl.edu 37 14 94079316 94079316 + Nonsense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_020818.3 +1 validated p.R1133* 1.000 219 0% 202 12.4% 0 - - - - NULL SERPINA11 256394 genome.wustl.edu 37 14 94912803 94912804 + Frame_Shift_Ins INS - - A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001080451.1 -1 provisional p.C261fs 1.000:0.998 - - - - - - - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin RTL1 388015 genome.wustl.edu 37 14 101348755 101348755 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001134888.2 -1 reviewed p.K791E 0.860 295 0% 201 34.8% 0 - probably_damaging(0.995) tolerated(0.24) deleterious(0.495) superfamily_DNA/RNA polymerases MIR543 100126335 genome.wustl.edu 37 14 101498383 101498383 + RNA SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000390751 +1 known NULL 1.000 545 0.4% 445 31.5% 0 - - - - - DYNC1H1 1778 genome.wustl.edu 37 14 102471423 102471423 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001376.4 +1 reviewed p.N1761 0.973 59 0% 59 39% 0 - - - - NULL SIVA1 10572 genome.wustl.edu 37 14 105221978 105221978 + Nonsense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_006427.3 +1 reviewed p.R44* 0.995 90 0% 59 42.4% 95 26.3% - - - HMMPfam_Siva AKT1 207 genome.wustl.edu 37 14 105246470 105246470 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001014431.1 -1 reviewed p.D44N 1.000 89 0% 56 35.7% 44 50% benign(0.119) tolerated(0.44) neutral(0.022) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like OTUD7A 161725 genome.wustl.edu 37 15 31818566 31818566 + Silent SNP G G A rs184361722 by1000genomes TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_130901.1 -1 provisional p.G286 0.947 67 0% 33 18.2% 0 - - - - HMMPfam_OTU JMJD7-PLA2G4B 8681 genome.wustl.edu 37 15 42127333 42127333 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005090.3 +1 validated p.V128 1.000 42 0% 33 24.2% 18 16.6% - - - HMMSmart_SM00558,superfamily_Clavaminate synthase-like CAPN3 825 genome.wustl.edu 37 15 42693952 42693952 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_000070.2 +1 reviewed p.R490W 0.996 115 0% 81 33.3% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Calpain_III,HMMSmart_SM00720,superfamily_Calpain large subunit middle domain (domain III) STARD9 57519 genome.wustl.edu 37 15 42967922 42967922 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 XM_001129482.3 +1 model p.A535V 1.000 100 0% 87 46% 0 - probably_damaging(0.998) - - NULL ZSCAN29 146050 genome.wustl.edu 37 15 43658789 43658789 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_152455.3 -1 validated p.H247 1.000 278 0.4% 260 39.6% 3 0% - - - NULL SPG11 80208 genome.wustl.edu 37 15 44865011 44865011 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_025137.3 -1 reviewed p.K2071 0.999 297 0% 316 38.3% 23 39.1% - - - NULL CEP152 22995 genome.wustl.edu 37 15 49030612 49030612 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_014985.2 -1 provisional p.C1600Y 0.000 307 0% 381 42.3% 2 50% benign(0) tolerated(0.07) neutral(0.319) NULL DYX1C1 161582 genome.wustl.edu 37 15 55722957 55722957 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_130810.2 -1 reviewed p.A392T 1.000 423 0% 499 40.1% 12 66.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like NARG2 79664 genome.wustl.edu 37 15 60747214 60747214 + Missense_Mutation SNP T T A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_024611.4 -1 validated p.I311L 0.268 272 0% 437 38.7% 2 0% possibly_damaging(0.738) tolerated(0.23) neutral(0.311) NULL SPG21 51324 genome.wustl.edu 37 15 65273279 65273279 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001127889.1 -1 reviewed p.P50S 1.000 150 0% 133 33.8% 34 55.8% probably_damaging(0.999) tolerated(0.15) deleterious(0.732) superfamily_SSF53474 ACAN 176 genome.wustl.edu 37 15 89398456 89398456 + Silent SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_013227.3 +1 reviewed p.L880 0.000 125 0% 93 46.2% 0 - - - - NULL ANPEP 290 genome.wustl.edu 37 15 90348674 90348674 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001150.2 -1 reviewed p.M212T 1.000 158 0% 111 30.6% 202 58.4% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_Peptidase_M1,superfamily_SSF63737 ZNF774 342132 genome.wustl.edu 37 15 90903973 90903973 + Missense_Mutation SNP T T G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001004309.2 +1 validated p.S304A 0.700 44 0% 35 40% 1 0% benign(0.235) tolerated(0.06) neutral(0.346) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers VPS33B 26276 genome.wustl.edu 37 15 91543804 91543804 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_018668.3 -1 reviewed p.G499 0.950 107 0% 98 30.6% 17 23.5% - - - HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins SYNM 23336 genome.wustl.edu 37 15 99670282 99670283 + Frame_Shift_Ins INS - - GA novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000336292 +1 known p.E576fs 0.000:0.000 - - - - - - - - - NULL ADAMTS17 170691 genome.wustl.edu 37 15 100594188 100594188 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_139057.2 -1 reviewed p.A737T 1.000 312 0% 254 37% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ADAM_spacer1 MPG 4350 genome.wustl.edu 37 16 129433 129433 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_002434.2 +1 validated p.R17W 0.004 51 0% 52 38.5% 34 32.3% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL RGS11 8786 genome.wustl.edu 37 16 323526 323526 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_183337.1 -1 reviewed p.R179 0.995 34 0% 18 38.9% 0 - - - - NULL WFIKKN1 117166 genome.wustl.edu 37 16 682678 682678 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_053284.2 +1 reviewed p.A90T 0.088 18 0% 10 60% 0 - benign(0.055) tolerated(0.13) neutral(0.256) NULL CHTF18 63922 genome.wustl.edu 37 16 845185 845186 + Frame_Shift_Del DEL TG TG - novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_022092.2 +1 validated p.V671fs 0.001:0.996 - - - - - - - - - NULL BAIAP3 8938 genome.wustl.edu 37 16 1394833 1394833 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_003933.3 +1 reviewed p.R633W 1.000 131 0% 86 41.9% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DUF1041 ZNF597 146434 genome.wustl.edu 37 16 3487222 3487222 + Silent SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_152457.1 -1 provisional p.P159 0.984 316 0% 426 35.4% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ERCC4 2072 genome.wustl.edu 37 16 14041948 14041948 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005236.2 +1 reviewed p.T832I 0.915 117 0% 114 39.5% 2 50% possibly_damaging(0.593) deleterious(0.01) deleterious(0.611) NULL SBK1 388228 genome.wustl.edu 37 16 28328785 28328785 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001024401.2 +1 provisional p.P25S 0.052 59 0% 28 28.6% 1 0% benign(0) tolerated(0.72) neutral(0.002) NULL APOBR 55911 genome.wustl.edu 37 16 28507614 28507614 + Nonsense_Mutation SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_018690.2 +1 reviewed p.E409* 0.032 164 0% 125 37.6% 3 33.3% - - - NULL SEPT1 1731 genome.wustl.edu 37 16 30389824 30389824 + Missense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_052838.2 -1 reviewed p.E345D 1.000 44 0% 31 32.3% 22 18.1% benign(0.047) tolerated(0.32) neutral(0.027) NULL BCKDK 10295 genome.wustl.edu 37 16 31122051 31122051 + Nonsense_Mutation SNP A A T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005881.2 +1 validated p.K229* 1.000 136 0% 108 33.3% 29 0% - - - superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase LOC401847 401847 genome.wustl.edu 37 16 33605671 33605671 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 XM_001718104.2 +1 model p.Y114H 1.000 126 0% 161 16.8% 0 - - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin SALL1 6299 genome.wustl.edu 37 16 51174288 51174288 + Silent SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_002968.2 -1 reviewed p.S615 0.705 64 0% 45 37.8% 4 0% - - - NULL RBL2 5934 genome.wustl.edu 37 16 53503980 53503980 + Nonsense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005611.3 +1 validated p.Q710* 1.000 137 0% 123 35% 11 9% - - - NULL CES5A 221223 genome.wustl.edu 37 16 55893467 55893467 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001143685.1 -1 validated p.L350 0.464 118 0% 113 37.2% 0 - - - - HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases HYDIN 54768 genome.wustl.edu 37 16 70863675 70863675 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_032821.2 -1 validated p.N4652S 1.000 193 0% 157 22.3% 0 - benign(0.034) deleterious(0) neutral(0.447) NULL TXNL4B 54957 genome.wustl.edu 37 16 72122907 72122907 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001142317.1 -1 validated p.Q88R 1.000 296 0% 406 38.7% 10 40% benign(0.065) tolerated(0.2) neutral(0.053) HMMPfam_DIM1,superfamily_Thiordxn-like_fd CLEC18B 497190 genome.wustl.edu 37 16 74447564 74447564 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001011880.2 -1 validated p.A156V 1.000 269 0% 183 13.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00198,HMMPfam_SCP,superfamily_PR-1-like DNAAF1 123872 genome.wustl.edu 37 16 84188402 84188402 + Silent SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_178452.4 +1 reviewed p.L191 0.988 122 0% 120 30.8% 0 - - - - HMMPfam_LRR_1,HMMSmart_SM00365,superfamily_Outer arm dynein light chain 1 WDR81 124997 genome.wustl.edu 37 17 1630463 1630463 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000409644 +1 known p.T737M 0.999 46 0% 44 29.5% 3 66.6% benign(0) tolerated(0.2) neutral(0.049) superfamily_WD40 repeat-like SPNS2 124976 genome.wustl.edu 37 17 4416544 4416544 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001124758.1 +1 provisional p.V125I 0.954 64 0% 44 36.4% 1 0% possibly_damaging(0.929) tolerated(0.19) neutral(0.425) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter MYH10 4628 genome.wustl.edu 37 17 8413197 8413197 + Missense_Mutation SNP T T G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005964.1 -1 validated p.E977A 1.000 270 0% 283 37.8% 7 42.8% possibly_damaging(0.501) deleterious(0.01) deleterious(0.573) NULL RAI1 10743 genome.wustl.edu 37 17 17700254 17700254 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_030665.3 +1 reviewed p.A1331V 1.000 24 0% 21 38.1% 6 16.6% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL LRRC48 83450 genome.wustl.edu 37 17 17897633 17897633 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001130090.1 +1 validated p.K204 0.995 79 0% 53 26.4% 5 20% - - - superfamily_Outer arm dynein light chain 1 SPECC1 92521 genome.wustl.edu 37 17 20107710 20107711 + Frame_Shift_Ins INS - - AG novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001033553.1 +1 validated p.S119fs 0.945:0.988 - - - - - - - - - NULL SPECC1 92521 genome.wustl.edu 37 17 20107730 20107730 + Missense_Mutation SNP G G T rs190108325 by1000genomes TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001033553.1 +1 validated p.R123L 1.000 145 0% 159 40.9% 1 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL USP22 23326 genome.wustl.edu 37 17 20919197 20919197 + Silent SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_015276.1 -1 validated p.R236 1.000 107 0% 57 47.4% 30 26.6% - - - HMMPfam_UCH,superfamily_Cysteine proteinases MYO18A 399687 genome.wustl.edu 37 17 27438479 27438479 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_078471.3 -1 validated p.T955A 0.818 260 0% 148 29.7% 10 50% benign(0.008) tolerated(0.7) neutral(0.002) HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases SLC6A4 6532 genome.wustl.edu 37 17 28543134 28543134 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001045.4 -1 reviewed p.L313S 1.000 148 0% 157 39.5% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_SNF NF1 4763 genome.wustl.edu 37 17 29654615 29654615 + Silent SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001042492.2 +1 reviewed p.E1789 1.000 164 0% 186 38.7% 1 0% - - - NULL MED1 5469 genome.wustl.edu 37 17 37604110 37604110 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004774.3 -1 reviewed p.A25T 1.000 448 0% 481 10% 0 - unknown(0) tolerated(0.07) - HMMPfam_Med1-Trap220 KRT28 162605 genome.wustl.edu 37 17 38953457 38953457 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_181535.3 -1 reviewed p.A256V 0.802 133 0.8% 81 48.1% 0 - benign(0.001) deleterious(0) neutral(0.445) HMMPfam_Filament CNTD1 124817 genome.wustl.edu 37 17 40951221 40951221 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_173478.2 +1 validated p.R46W 0.000 54 0% 39 28.2% 0 - probably_damaging(0.973) tolerated(0.19) neutral(0.464) superfamily_Cyclin-like MAPT 4137 genome.wustl.edu 37 17 44073955 44073955 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001123066.3 +1 validated p.P584 1.000 42 0% 29 27.6% 1 0% - - - HMMPfam_Tubulin-binding KANSL1 284058 genome.wustl.edu 37 17 44249125 44249125 + Missense_Mutation SNP G G C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_015443.2 -1 validated p.P129A 1.000 224 0% 210 21% 3 33.3% probably_damaging(0.954) tolerated(0.25) neutral(0.434) NULL FAM117A 81558 genome.wustl.edu 37 17 47810029 47810029 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_030802.3 -1 validated p.L84F 1.000 139 0% 130 40.8% 5 20% possibly_damaging(0.509) tolerated(0.12) neutral(0.431) NULL AXIN2 8313 genome.wustl.edu 37 17 63554672 63554672 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004655.3 -1 reviewed p.R23W 0.952 37 0% 28 39.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BPTF 2186 genome.wustl.edu 37 17 65889664 65889666 + In_Frame_Del DEL ATG ATG - novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 ATG ATG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_182641.3 +1 reviewed p.D746in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL DNAI2 64446 genome.wustl.edu 37 17 72285759 72285759 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_023036.4 +1 reviewed p.A165V 1.000 151 0% 104 37.5% 0 - benign(0.002) tolerated(0.62) neutral(0.004) superfamily_WD40 repeat-like CD300LB 124599 genome.wustl.edu 37 17 72518936 72518936 + Missense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_174892.2 -1 validated p.G220W 0.000 202 0% 177 43.5% 0 - probably_damaging(0.989) tolerated(0.28) deleterious(0.471) NULL LGALS3BP 3959 genome.wustl.edu 37 17 76968470 76968470 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005567.3 -1 reviewed p.P316S 0.952 13 0% 20 55% 507 41% benign(0.002) tolerated(0.26) neutral(0.034) HMMPfam_BACK BAHCC1 57597 genome.wustl.edu 37 17 79412396 79412396 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000436173 +1 known p.Q951R 0.123 9 0.000 12 0.333 2 50% benign(0) tolerated(1) - NULL SMAD2 4087 genome.wustl.edu 37 18 45394805 45394805 + Silent SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001003652.2 -1 reviewed p.R182 0.994 222 0% 258 38.8% 24 20.8% - - - NULL SERPINB8 5271 genome.wustl.edu 37 18 61649057 61649057 + Nonsense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000295211 +1 known p.W78* 0.002 339 0% 331 37.2% 6 16.6% benign(0) tolerated(0.22) neutral(0.042) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins CD226 10666 genome.wustl.edu 37 18 67563114 67563114 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_006566.2 -1 reviewed p.G184S 0.118 155 0% 150 38.7% 0 - probably_damaging(0.989) tolerated(0.06) deleterious(0.762) HMMSmart_IGc2,HMMPfam_V-set,superfamily_SSF48726 TSHZ1 10194 genome.wustl.edu 37 18 72998196 72998196 + Missense_Mutation SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005786.4 +1 reviewed p.K233N 1.000 67 0% 68 30.9% 67 50.7% possibly_damaging(0.927) tolerated(0.08) deleterious(0.675) NULL ZNF236 7776 genome.wustl.edu 37 18 74620345 74620345 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_007345.3 +1 validated p.Q787 1.000 40 0% 31 48.4% 0 - - - - NULL CELF5 60680 genome.wustl.edu 37 19 3273915 3273915 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_021938.3 +1 reviewed p.G130R 0.998 119 0% 70 37.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_RNA-binding domain RBD INSR 3643 genome.wustl.edu 37 19 7119483 7119483 + Silent SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_000208.2 -1 reviewed p.Q1257 0.983 213 0% 224 36.2% 3 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) HNRNPM 4670 genome.wustl.edu 37 19 8528527 8528527 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005968.3 +1 validated p.L132P 1.000 299 0% 342 37.7% 97 43.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ZNF426 79088 genome.wustl.edu 37 19 9641674 9641674 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_024106.1 -1 provisional p.I132T 0.000 260 0% 356 38.8% 0 - benign(0.002) tolerated(0.4) neutral(0.016) NULL FBXL12 54850 genome.wustl.edu 37 19 9921710 9921710 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_017703.1 -1 provisional p.M281I 1.000 192 0% 116 29.3% 7 42.8% benign(0.006) tolerated(0.46) neutral(0.012) superfamily_RNI-like RDH8 50700 genome.wustl.edu 37 19 10132286 10132286 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_015725.2 +1 validated p.T266M 0.787 110 0% 71 46.5% 0 - probably_damaging(0.98) tolerated(0.09) deleterious(0.720) superfamily_NAD(P)-bd MAST1 22983 genome.wustl.edu 37 19 12951307 12951307 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_014975.2 +1 validated p.P44L 1.000 279 0% 138 36.2% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL FARSA 2193 genome.wustl.edu 37 19 13035583 13035583 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004461.2 -1 validated p.R355 0.001 113 0% 75 38.7% 103 48.5% - - - HMMPfam_tRNA-synt_2d,superfamily_Class II aaRS and biotin synthetases CALR 811 genome.wustl.edu 37 19 13051444 13051444 + Silent SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004343.3 +1 reviewed p.P264 0.548 172 0% 174 36.8% 871 41.5% - - - HMMPfam_Calreticulin EPS15L1 58513 genome.wustl.edu 37 19 16524628 16524628 + Nonsense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_021235.1 -1 provisional p.R408* 0.306 424 0% 511 37% 5 20% - - - NULL MAST3 23031 genome.wustl.edu 37 19 18242813 18242813 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_015016.1 +1 validated p.Y480 1.000 88 0% 34 14.7% 3 33.3% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PIK3R2 5296 genome.wustl.edu 37 19 18271916 18271916 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005027.2 +1 validated p.G173 0.006 28 0% 10 50% 6 66.6% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP SUGP2 10147 genome.wustl.edu 37 19 19135430 19135430 + Missense_Mutation SNP T T G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001017392.3 -1 reviewed p.D576A 0.020 108 0% 166 30.7% 20 60% benign(0) tolerated(0.42) neutral(0.014) superfamily_Surp module (SWAP domain Pfam 01805) LOC100287226 100287226 genome.wustl.edu 37 19 22497668 22497668 + Silent SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 XM_002343636.1 +1 model p.T350 1.000 43 0% 77 39% 0 - - - - superfamily_C2H2 and C2HC zinc fingers HAUS5 23354 genome.wustl.edu 37 19 36110588 36110588 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_015302.1 +1 validated p.R445H 0.012 52 0% 27 18.5% 7 28.5% benign(0.001) tolerated(0.22) neutral(0.042) NULL BLVRB 645 genome.wustl.edu 37 19 40964286 40964286 + Splice_Site SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_000713.2 -1 validated e2+2 1.000 13 0% 13 38.5% 10 100% - - - - CYTH2 9266 genome.wustl.edu 37 19 48973874 48973874 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_017457.4 +1 reviewed p.R61Q 1.000 198 0% 132 36.4% 35 37.1% benign(0.037) tolerated(0.1) neutral(0.288) HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain MED25 81857 genome.wustl.edu 37 19 50338244 50338244 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_030973.3 +1 reviewed p.A495V 1.000 100 0% 57 40.4% 132 34.8% benign(0.402) tolerated(0.14) neutral(0.379) NULL PNKP 11284 genome.wustl.edu 37 19 50365123 50365123 + Missense_Mutation SNP A A C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_007254.2 -1 provisional p.W402G 0.947 74 0% 35 45.7% 129 59.6% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_SSF52540 SIGLEC10 89790 genome.wustl.edu 37 19 51917045 51917045 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_033130.4 -1 validated p.T581I 0.000 248 0% 205 31.7% 6 0% benign(0.087) tolerated(0.2) neutral(0.056) NULL FPR2 2358 genome.wustl.edu 37 19 52272166 52272166 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001005738.1 +1 validated p.M85I 0.230 323 0% 288 37.8% 0 - benign(0) tolerated(0.83) neutral(0.001) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF320 162967 genome.wustl.edu 37 19 53384627 53384627 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_207333.2 -1 validated p.G251D 0.997 191 0% 278 35.3% 9 22.2% benign(0.004) tolerated(0.15) neutral(0.241) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 GP6 51206 genome.wustl.edu 37 19 55526132 55526132 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001083899.1 -1 validated p.P394L 0.001 90 0% 60 45% 0 - unknown(0) - - NULL NLRP8 126205 genome.wustl.edu 37 19 56466069 56466069 + Silent SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_176811.2 +1 provisional p.G215 0.379 105 0% 107 39.3% 0 - - - - HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF583 147949 genome.wustl.edu 37 19 56935682 56935682 + Missense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_152478.2 +1 validated p.S552Y 0.912 241 0% 270 31.1% 7 57.1% benign(0.404) deleterious(0) deleterious(0.575) NULL ZNF329 79673 genome.wustl.edu 37 19 58640089 58640089 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_024620.3 -1 validated p.C261Y 0.997 245 0% 298 10.4% 4 25% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 JAG1 182 genome.wustl.edu 37 20 10653355 10653355 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_000214.2 -1 reviewed p.A127 1.000 17 0% 10 40% 5 20% - - - NULL PCSK2 5126 genome.wustl.edu 37 20 17208102 17208102 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_002594.2 +1 reviewed p.A51V 1.000 225 0% 120 36.7% 0 - benign(0) tolerated(0.26) neutral(0.034) superfamily_Protease propeptides/inhibitors NCOA6 23054 genome.wustl.edu 37 20 33346716 33346716 + Missense_Mutation SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_014071.2 -1 reviewed p.P179T 0.992 143 0% 150 30.7% 2 50% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) NULL MYH7B 57644 genome.wustl.edu 37 20 33586552 33586552 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_020884.3 +1 reviewed p.A1384T 1.000 28 0% 22 27.3% 0 - benign(0.05) deleterious(0.01) neutral(0.409) HMMPfam_Myosin_tail_1 C20orf4 25980 genome.wustl.edu 37 20 34827960 34827962 + In_Frame_Del DEL TCC TCC - novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_015511.3 +1 predicted p.L58in_frame_del 1.000:0.998:1.000 - - - - - - - - - HMMPfam_AAR2 PLCG1 5335 genome.wustl.edu 37 20 39801087 39801087 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_002660.2 +1 reviewed p.R978W 1.000 86 0% 79 40.5% 19 10.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_PLC-like_Pdiesterase_TIM-brl CHD6 84181 genome.wustl.edu 37 20 40033901 40033901 + Missense_Mutation SNP C C A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_032221.3 -1 reviewed p.G2494W 1.000 100 0% 109 27.5% 15 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CHD6 84181 genome.wustl.edu 37 20 40053913 40053913 + Missense_Mutation SNP T T A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_032221.3 -1 reviewed p.E1417D 0.954 268 0% 255 39.2% 2 0% possibly_damaging(0.472) tolerated(0.06) deleterious(0.479) NULL ZMYND8 23613 genome.wustl.edu 37 20 45878029 45878029 + Splice_Site SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_183047.1 -1 reviewed e13+2 1.000 157 0% 184 37% 4 100% - - - - PARD6B 84612 genome.wustl.edu 37 20 49366347 49366347 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_032521.2 +1 reviewed p.D147 0.985 160 0% 228 32.9% 4 25% - - - superfamily_PDZ RAE1 8480 genome.wustl.edu 37 20 55948638 55948638 + Splice_Site SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001015885.1 +1 reviewed e8+1 1.000 323 0% 415 39% 2 50% - - - - NPEPL1 79716 genome.wustl.edu 37 20 57276071 57276071 + Splice_Site SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_024663.3 +1 validated e6-1 1.000 39 0% 36 47.2% 0 - - - - - PRIC285 85441 genome.wustl.edu 37 20 62197014 62197014 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001037335.2 -1 reviewed p.A1054V 0.001 13 0.000 9 0.778 7 57.1% benign(0.002) tolerated(0.16) neutral(0.059) NULL TPD52L2 7165 genome.wustl.edu 37 20 62505020 62505020 + Splice_Site SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_199360.1 +1 validated e3-1 1.000 45 0% 63 34.9% 0 - - - - - APP 351 genome.wustl.edu 37 21 27269895 27269895 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_000484.3 -1 reviewed p.H685R 1.000 355 0% 416 40.6% 505 31.4% possibly_damaging(0.448) tolerated(0.19) neutral(0.196) HMMPfam_Beta-APP ADAMTS1 9510 genome.wustl.edu 37 21 28211985 28211985 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_006988.3 -1 reviewed p.A650V 1.000 100 0% 102 38.2% 11 27.2% benign(0.059) deleterious(0.01) neutral(0.410) NULL LTN1 26046 genome.wustl.edu 37 21 30357117 30357117 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_015565.2 -1 validated p.T158A 1.000 258 0% 295 35.3% 0 - possibly_damaging(0.619) tolerated(0.21) neutral(0.260) superfamily_ARM repeat KCNE2 9992 genome.wustl.edu 37 21 35743006 35743006 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_172201.1 +1 reviewed p.R77W 0.926 219 0% 230 29.6% 0 - probably_damaging(0.985) deleterious(0.02) deleterious(0.815) HMMPfam_ISK_Channel DSCAM 1826 genome.wustl.edu 37 21 41505835 41505835 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001389.3 -1 validated p.R1170C 0.999 220 0% 183 50.3% 0 - probably_damaging(0.972) deleterious(0.03) deleterious(0.778) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TRPM2 7226 genome.wustl.edu 37 21 45795827 45795827 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_003307.3 +1 reviewed p.Y295H 0.871 267 0% 197 32.5% 1 0% possibly_damaging(0.911) tolerated(0.53) neutral(0.370) NULL COL6A2 1292 genome.wustl.edu 37 21 47532435 47532435 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001849.3 +1 reviewed p.L220 0.031 7 0.000 8 0.625 101 0% - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like PI4KA 5297 genome.wustl.edu 37 22 21063601 21063601 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_058004.2 -1 reviewed p.S2022 1.000 341 0% 210 26.2% 51 35.2% - - - HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) SDF2L1 23753 genome.wustl.edu 37 22 21998208 21998208 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_022044.2 +1 validated p.G137D 1.000 68 0% 70 42.9% 216 38.4% possibly_damaging(0.913) tolerated(0.15) deleterious(0.605) HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 CRYBA4 1413 genome.wustl.edu 37 22 27026312 27026312 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001886.2 +1 reviewed p.C151Y 1.000 318 0% 246 31.3% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF NF2 4771 genome.wustl.edu 37 22 30070930 30070930 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000432151 +1 known p.A210T 1.000 43 4.7% 23 52.2% 14 42.8% unknown(0) tolerated(0.13) - NULL LARGE 9215 genome.wustl.edu 37 22 33780289 33780289 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004737.4 -1 reviewed p.G298 0.990 138 0.7% 127 29.9% 1 100% - - - HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases APOL6 80830 genome.wustl.edu 37 22 36055234 36055234 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_030641.3 +1 reviewed p.G208D 0.019 66 0% 56 28.6% 4 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ApoL DMC1 11144 genome.wustl.edu 37 22 38934335 38934335 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_007068.2 -1 reviewed p.A247V 1.000 79 0% 87 40.2% 0 - probably_damaging(0.955) tolerated(0.11) deleterious(0.670) HMMSmart_AAA,HMMPfam_Rad51,superfamily_SSF52540 EP300 2033 genome.wustl.edu 37 22 41531815 41531815 + Splice_Site SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001429.3 +1 reviewed e7-2 1.000 406 0% 535 36.6% 0 - - - - - NDUFA6 4700 genome.wustl.edu 37 22 42482196 42482196 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_002490.3 -1 validated p.H152 0.038 304 0% 320 38.4% 237 40.5% - - - NULL TCF20 6942 genome.wustl.edu 37 22 42608112 42608112 + Missense_Mutation SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005650.1 -1 reviewed p.T1067I 0.874 195 0% 217 15.7% 2 50% possibly_damaging(0.615) deleterious(0) deleterious(0.658) NULL CELSR1 9620 genome.wustl.edu 37 22 46930653 46930653 + Silent SNP G G A novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000454637 -1 known p.A180V 1.000 51 0% 49 42.9% 3 100% - - - HMMPfam_Cadherin,superfamily_Cadherin-like KIR2DL5B 553128 genome.wustl.edu 37 GL000209.1 67643 67643 + Nonsense_Mutation SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000400851 +1 known p.G374* NULL 176 0.6% 162 39.5% 0 - - - - NULL PPP2R3B 28227 genome.wustl.edu 37 X 308048 308048 + Missense_Mutation SNP T T C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_013239.4 -1 reviewed p.D213G 1.000 344 0% 195 33.3% 11 45.4% possibly_damaging(0.947) tolerated(0.16) neutral(0.450) superfamily_EF-hand TLR7 51284 genome.wustl.edu 37 X 12906583 12906583 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_016562.3 +1 reviewed p.I986V 1.000 260 0% 291 36.8% 0 - probably_damaging(0.975) deleterious(0.01) deleterious(0.823) HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain GRPR 2925 genome.wustl.edu 37 X 16170613 16170613 + Missense_Mutation SNP A A C novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005314.2 +1 reviewed p.N334H 1.000 159 0% 108 35.2% 1 100% possibly_damaging(0.925) deleterious(0) deleterious(0.818) superfamily_Family A G protein-coupled receptor-like GPR64 10149 genome.wustl.edu 37 X 19049155 19049155 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001079858.2 -1 validated p.G102D 1.000 237 0% 268 39.6% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL DMD 1756 genome.wustl.edu 37 X 32328347 32328347 + Missense_Mutation SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004006.2 -1 reviewed p.P1990H 1.000 298 0% 231 33.3% 0 - possibly_damaging(0.63) deleterious(0.01) deleterious(0.626) NULL ITIH6 347365 genome.wustl.edu 37 X 54785088 54785088 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_198510.2 -1 reviewed p.L473 1.000 74 0% 54 42.6% 0 - - - - superfamily_SSF53300 ZXDB 158586 genome.wustl.edu 37 X 57620826 57620826 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_007157.3 +1 validated p.A782V 0.214 465 0% 505 14.7% 2 0% benign(0.088) deleterious(0) neutral(0.451) NULL LAS1L 81887 genome.wustl.edu 37 X 64738005 64738005 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_031206.4 -1 validated p.D597N 0.004 733 0% 589 34.3% 34 88.2% benign(0) tolerated(0.66) neutral(0.003) NULL AR 367 genome.wustl.edu 37 X 66905968 66905968 + Nonsense_Mutation SNP G G T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 ENST00000504326 +1 known p.E629* 1.000 298 0% 244 37.3% 0 - - - - superfamily_Glucocorticoid receptor-like (DNA-binding domain) RAB41 347517 genome.wustl.edu 37 X 69502144 69502144 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001032726.2 +1 reviewed p.Y26C 0.023 275 0% 251 47% 0 - possibly_damaging(0.932) tolerated(0.13) deleterious(0.631) NULL MED12 9968 genome.wustl.edu 37 X 70344972 70344972 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_005120.2 +1 reviewed p.Y734 0.964 198 0% 153 37.3% 1 0% - - - NULL NHSL2 340527 genome.wustl.edu 37 X 71360140 71360140 + Silent SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001013627.2 +1 provisional p.R548 0.757 156 0% 144 37.5% 0 - - - - NULL NAP1L3 4675 genome.wustl.edu 37 X 92926834 92926834 + Silent SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_004538.4 -1 reviewed p.G490 0.005 237 0% 326 39% 1 100% - - - HMMPfam_NAP ARMCX1 51309 genome.wustl.edu 37 X 100808980 100808980 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_016608.1 +1 reviewed p.E356G 1.000 112 0% 142 36.6% 2 0% probably_damaging(0.963) deleterious(0.02) deleterious(0.788) HMMPfam_DUF634,superfamily_ARM-type_fold ARMCX3 51566 genome.wustl.edu 37 X 100880133 100880133 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_016607.3 +1 reviewed p.A55V 0.996 111 0% 124 37.1% 12 0% possibly_damaging(0.918) tolerated(0.73) neutral(0.370) NULL ZCCHC18 644353 genome.wustl.edu 37 X 103358980 103358980 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001143978.1 +1 provisional p.T60A 0.470 175 0% 204 48% 0 - - - - NULL ACSL4 2182 genome.wustl.edu 37 X 108908699 108908699 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_022977.2 -1 reviewed p.V488A 1.000 394 0% 482 38.4% 10 10% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like RBMXL3 139804 genome.wustl.edu 37 X 114425902 114425902 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001145346.1 +1 validated p.Y633C 0.596 81 0% 60 35% 0 - possibly_damaging(0.88) deleterious(0) deleterious(0.788) NULL DOCK11 139818 genome.wustl.edu 37 X 117788746 117788746 + Missense_Mutation SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_144658.3 +1 validated p.A1626V 1.000 275 0% 286 34.3% 2 0% probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL FGF13 2258 genome.wustl.edu 37 X 137785188 137785188 + Silent SNP C C T novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001139500.1 -1 reviewed p.K130 1.000 204 0% 224 45.5% 1 0% - - - HMMPfam_FGF,HMMSmart_FGF,superfamily_Cytok_IL1_like ATP2B3 492 genome.wustl.edu 37 X 152815082 152815082 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_001001344.2 +1 reviewed p.Y489C 1.000 143 0% 120 35.8% 0 - benign(0.005) deleterious(0.03) neutral(0.364) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M F8 2157 genome.wustl.edu 37 X 154159150 154159150 + Missense_Mutation SNP A A G novel TCGA-D1-A160-01A-11D-A122-09 TCGA-D1-A160-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 587ec01b-c660-42c3-802b-36a170289bbc 2d817648-0743-4106-a922-a9c37b5fe2f1 NM_000132.3 -1 reviewed p.M972T 0.000 100 0% 165 40.6% 0 - possibly_damaging(0.918) deleterious(0) deleterious(0.813) NULL