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 ACAP3 116983 genome.wustl.edu 37 1 1239517 1239517 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000354980 -1 known p.P34Q 0.025 97 0% 43 55.8% 0 - unknown(0) - - NULL LRRC47 57470 genome.wustl.edu 37 1 3712530 3712530 + Nonsense_Mutation SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_020710.2 -1 validated p.E171* 0.146 19 0.000 9 0.556 7 28.5% - - - superfamily_SSF52047 NPHP4 261734 genome.wustl.edu 37 1 5940195 5940195 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015102.2 -1 reviewed p.L864F 0.928 50 0% 38 52.6% 2 0% possibly_damaging(0.775) tolerated(0.44) neutral(0.301) NULL NPHP4 261734 genome.wustl.edu 37 1 6012820 6012820 + Silent SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015102.2 -1 reviewed p.P250 0.960 20 0% 14 50% 0 - - - - NULL KLHL21 9903 genome.wustl.edu 37 1 6653508 6653508 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014851.2 -1 provisional p.R571C 0.068 17 0% 13 61.5% 0 - unknown(0) - - NULL UBE4B 10277 genome.wustl.edu 37 1 10166441 10166441 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001105562.1 +1 reviewed p.P332 1.000 48 0% 21 38.1% 0 - - - - NULL MTOR 2475 genome.wustl.edu 37 1 11272880 11272880 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_004958.3 -1 reviewed p.A1124V 1.000 87 0% 81 48.1% 0 - possibly_damaging(0.49) tolerated(0.39) neutral(0.179) superfamily_ARM-type_fold PRDM2 7799 genome.wustl.edu 37 1 14108710 14108710 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_012231.4 +1 reviewed p.A1474T 0.982 56 1.8% 37 43.2% 1 0% possibly_damaging(0.948) tolerated(0.11) deleterious(0.663) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SPEN 23013 genome.wustl.edu 37 1 16255366 16255366 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015001.2 +1 reviewed p.C877 0.994 92 0% 76 40.8% 1 100% - - - NULL SPEN 23013 genome.wustl.edu 37 1 16262604 16262604 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015001.2 +1 reviewed p.T3290I 1.000 34 0% 20 55% 0 - unknown(0) deleterious(0) - NULL UBXN10 127733 genome.wustl.edu 37 1 20517541 20517541 + Missense_Mutation SNP T T A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_152376.3 +1 provisional p.S163T 0.011 65 0% 42 66.7% 1 0% benign(0.318) tolerated(0.15) neutral(0.341) NULL KIF17 57576 genome.wustl.edu 37 1 21011458 21011458 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_020816.2 -1 validated p.G692D 0.000 12 0% 18 44.4% 0 - probably_damaging(0.99) deleterious(0.04) deleterious(0.790) NULL HNRNPR 10236 genome.wustl.edu 37 1 23637174 23637174 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001102398.1 -1 reviewed p.R562C 1.000 118 0% 68 17.6% 18 11.1% unknown(0) deleterious(0) - NULL UBXN11 91544 genome.wustl.edu 37 1 26629321 26629321 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_183008.2 -1 reviewed p.S18 0.987 82 0% 50 52% 3 66.6% - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27087910 27087911 + Frame_Shift_Ins INS - - C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006015.4 +1 reviewed p.D734fs 1.000:1.000 - - - - - - - - - NULL WDTC1 23038 genome.wustl.edu 37 1 27631607 27631607 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015023.3 +1 validated p.Q586* 1.000 31 0% 27 59.3% 5 20% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 SRSF4 6429 genome.wustl.edu 37 1 29486916 29486916 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_005626.4 -1 reviewed p.R74Q 0.999 112 0% 52 48.1% 13 53.8% probably_damaging(0.997) deleterious(0.04) deleterious(0.815) superfamily_SSF54928 PUM1 9698 genome.wustl.edu 37 1 31453000 31453000 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001020658.1 -1 reviewed p.P421 1.000 35 0% 12 66.7% 1 100% - - - NULL MACF1 23499 genome.wustl.edu 37 1 39898235 39898235 + Missense_Mutation SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_033044.2 +1 reviewed p.A4229D 1.000 119 0% 96 46.9% 0 - probably_damaging(0.988) tolerated(0.63) neutral(0.441) HMMPfam_Spectrin,HMMSmart_SPEC RLF 6018 genome.wustl.edu 37 1 40704614 40704614 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_012421.3 +1 validated p.C1414R 1.000 129 0% 72 50% 3 33.3% probably_damaging(0.989) deleterious(0) deleterious(0.884) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 RIMS3 9783 genome.wustl.edu 37 1 41101686 41101686 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014747.2 -1 validated p.T87 0.511 26 0.038 8 0.500 0 - - - - NULL HIVEP3 59269 genome.wustl.edu 37 1 41978661 41978661 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_024503.3 -1 validated p.A2077 0.738 10 0% 13 38.5% 5 20% - - - NULL SZT2 23334 genome.wustl.edu 37 1 43897038 43897038 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015284.2 +1 predicted p.E774D 0.998 75 0% 56 60.7% 1 100% possibly_damaging(0.787) tolerated(0.54) neutral(0.302) NULL B4GALT2 8704 genome.wustl.edu 37 1 44450678 44450678 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001005417.1 +1 reviewed p.G231C 1.000 13 0% 12 50% 45 51.1% benign(0.257) tolerated(0.18) neutral(0.083) HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases TMEM53 79639 genome.wustl.edu 37 1 45120360 45120360 + Silent SNP G G C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_024587.2 -1 provisional p.R235 1.000 41 0% 22 18.2% 18 0% - - - HMMPfam_DUF829,superfamily_alpha/beta-Hydrolases PLK3 1263 genome.wustl.edu 37 1 45266755 45266755 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_004073.2 +1 validated p.I122 0.994 47 0% 27 25.9% 4 25% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LDLRAD1 388633 genome.wustl.edu 37 1 54474768 54474768 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001010978.2 -1 provisional p.R169C 0.841 19 0% 15 33.3% 5 20% possibly_damaging(0.511) deleterious(0.01) deleterious(0.577) HMMSmart_SM00192,superfamily_LDL receptor-like module ROR1 4919 genome.wustl.edu 37 1 64515521 64515521 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_005012.2 +1 validated p.R108W 1.000 104 0% 68 45.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin SSX2IP 117178 genome.wustl.edu 37 1 85130142 85130142 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014021.3 -1 reviewed p.R211C 1.000 430 0% 397 44.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ODF2L 57489 genome.wustl.edu 37 1 86818542 86818542 + Silent SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_020729.2 -1 validated p.S602 0.684 434 0% 326 48.2% 22 50% - - - NULL LMO4 8543 genome.wustl.edu 37 1 87797927 87797927 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006769.3 +1 reviewed p.Y77H 1.000 40 0% 35 42.9% 17 47% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LIM,superfamily_Glucocorticoid receptor-like (DNA-binding domain) DENND2D 79961 genome.wustl.edu 37 1 111739820 111739820 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_024901.3 -1 provisional p.G161D 1.000 30 0% 26 53.8% 6 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DENN,HMMSmart_SM00799 MAGI3 260425 genome.wustl.edu 37 1 114225544 114225544 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001142782.1 +1 validated p.S1118 0.998 75 0% 74 47.3% 0 - - - - superfamily_PDZ TRIM33 51592 genome.wustl.edu 37 1 114970387 114970387 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015906.3 -1 reviewed p.L429 1.000 203 0% 83 39.8% 0 - - - - HMMSmart_SM00502 ANKRD35 148741 genome.wustl.edu 37 1 145558841 145558841 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_144698.3 +1 validated p.R154C 0.995 24 0% 23 60.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK CHD1L 9557 genome.wustl.edu 37 1 146724358 146724358 + Nonsense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_004284.3 +1 validated p.G70* 1.000 127 0% 181 29.3% 1 100% - - - HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases PPIAL4A 164022 genome.wustl.edu 37 1 147955222 147955222 + Silent SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_178230.1 -1 provisional p.T41 0.979 194 0% 123 35.8% 2 0% - - - HMMPfam_Pro_isomerase,superfamily_CSA_PPIase ARNT 405 genome.wustl.edu 37 1 150786552 150786552 + Splice_Site SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001668.2 -1 reviewed e20+1 1.000 82 0% 92 71.7% 2 100% - - - - PGLYRP4 57115 genome.wustl.edu 37 1 153318659 153318659 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_020393.2 -1 validated p.S20P 0.456 346 0% 347 64% 0 - benign(0) deleterious(0) neutral(0.445) NULL SLC27A3 11000 genome.wustl.edu 37 1 153752369 153752369 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_024330.1 +1 provisional p.P695L 0.999 51 0% 39 33.3% 92 28.2% probably_damaging(1) tolerated(0.1) deleterious(0.786) superfamily_Acetyl-CoA synthetase-like SEMA4A 64218 genome.wustl.edu 37 1 156145423 156145423 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_022367.2 +1 provisional p.R557W 0.162 21 0% 31 29% 8 50% benign(0.008) deleterious(0.02) neutral(0.383) NULL TTC24 164118 genome.wustl.edu 37 1 156555612 156555612 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001105669.2 +1 provisional p.I242V 0.000 71 0% 88 28.4% 0 - benign(0) tolerated(0.11) neutral(0.272) NULL F5 2153 genome.wustl.edu 37 1 169510414 169510415 + Frame_Shift_Ins INS - - GA novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_000130.4 -1 reviewed p.P1305fs 0.097:0.096 - - - - - - - - - HMMPfam_LSPR DNM3 26052 genome.wustl.edu 37 1 172002294 172002294 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015569.3 +1 validated p.K246N 1.000 121 0% 115 16.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Dynamin_M,superfamily_SSF52540 PAPPA2 60676 genome.wustl.edu 37 1 176525805 176525805 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_020318.2 +1 validated p.A116V 0.011 35 0% 26 57.7% 0 - benign(0.001) deleterious(0.03) neutral(0.364) NULL ABL2 27 genome.wustl.edu 37 1 179086602 179086602 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_007314.3 -1 reviewed p.V425M 1.000 151 0% 162 62.3% 0 - possibly_damaging(0.716) deleterious(0) deleterious(0.704) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) NMNAT2 23057 genome.wustl.edu 37 1 183253868 183253868 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015039.2 -1 reviewed p.P169L 0.911 21 0% 24 75% 0 - benign(0.026) tolerated(0.16) neutral(0.060) HMMPfam_CTP_transf_2,superfamily_Nucleotidylyl transferase IVNS1ABP 10625 genome.wustl.edu 37 1 185267291 185267291 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006469.4 -1 validated p.A602V 0.660 227 0% 227 62.1% 233 60.5% benign(0.004) tolerated(0.48) neutral(0.011) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain NAV1 89796 genome.wustl.edu 37 1 201755587 201755587 + Nonsense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000430015 +1 known p.G517* 1.000 88 0% 99 59.6% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL GPR37L1 9283 genome.wustl.edu 37 1 202096939 202096939 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_004767.3 +1 validated p.S234N 1.000 69 0% 50 74% 0 - probably_damaging(0.975) tolerated(0.58) neutral(0.422) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZC3H11A 9877 genome.wustl.edu 37 1 203798758 203798758 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014827.4 +1 validated p.A160T 1.000 175 0% 169 38.5% 4 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LOC642587 642587 genome.wustl.edu 37 1 209605637 209605648 + In_Frame_Del DEL AGCAGCAGCAGC AGCAGCAGCAGC - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 AGCAGCAGCAGC AGCAGCAGCAGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001104548.1 +1 validated p.AAAA88in_frame_del 0.000:0.000:0.000:0.000:0.000:0.002:0.000:0.000:0.000:0.000:0.000:0.000 - - - - - - - - - NULL PTPN14 5784 genome.wustl.edu 37 1 214557278 214557278 + Silent SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_005401.4 -1 reviewed p.R640 1.000 29 0% 21 47.6% 2 0% - - - NULL ACTA1 58 genome.wustl.edu 37 1 229568514 229568514 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001100.3 -1 reviewed p.W81* 1.000 53 0% 23 73.9% 0 - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain C1orf100 200159 genome.wustl.edu 37 1 244528040 244528040 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001012970.1 +1 predicted p.R13L 0.014 215 0% 205 38% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL OR13G1 441933 genome.wustl.edu 37 1 247836183 247836183 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001005487.1 -1 provisional p.T54M 0.006 54 0% 84 32.1% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_7tm_1,superfamily_SSF81321 OR2M3 127062 genome.wustl.edu 37 1 248366550 248366550 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001004689.1 +1 provisional p.L61F 0.952 502 0% 411 31.6% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like C2orf16 84226 genome.wustl.edu 37 2 27804449 27804449 + Missense_Mutation SNP T T G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_032266.3 +1 validated p.H1670Q 0.000 97 1% 54 50% 0 - unknown(0) tolerated(0.06) - NULL CLIP4 79745 genome.wustl.edu 37 2 29379228 29379228 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_024692.4 +1 validated p.T392A 0.991 195 0% 195 39.5% 0 - benign(0.004) tolerated(0.36) neutral(0.020) NULL EPAS1 2034 genome.wustl.edu 37 2 46607833 46607833 + Silent SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001430.4 +1 reviewed p.P674 0.423 21 0% 16 43.8% 4 25% - - - NULL MSH6 2956 genome.wustl.edu 37 2 48033455 48033457 + In_Frame_Del DEL AGA AGA - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_000179.2 +1 reviewed p.E1254in_frame_del 0.999:1.000:1.000 - - - - - - - - - HMMPfam_MutS_V,HMMSmart_SM00534,superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000205011 0 genome.wustl.edu 37 2 48756717 48756717 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000378305 +1 known p.S4 0.000 156 0.6% 87 40.2% 0 - - - - NULL USP34 9736 genome.wustl.edu 37 2 61447508 61447508 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014709.3 -1 validated p.Q2662* 1.000 106 0% 52 44.2% 1 0% - - - NULL GFPT1 2673 genome.wustl.edu 37 2 69590701 69590701 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_002056.2 -1 reviewed p.P109T 1.000 288 0% 153 51.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GATase_2,superfamily_SSF56235 ADD2 119 genome.wustl.edu 37 2 70918040 70918040 + Frame_Shift_Del DEL G G - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001617.3 -1 reviewed p.L243fs 1.000 - - - - - - - - - HMMPfam_Aldolase_II,superfamily_AraD-like aldolase/epimerase LRRTM1 347730 genome.wustl.edu 37 2 80530487 80530487 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_178839.4 -1 validated p.A153V 1.000 79 0% 43 60.5% 3 66.6% benign(0) tolerated(0.26) neutral(0.034) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 TCF7L1 83439 genome.wustl.edu 37 2 85536299 85536299 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_031283.1 +1 provisional p.A494V 1.000 30 0% 17 52.9% 7 0% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL ADRA2B 151 genome.wustl.edu 37 2 96780854 96780854 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000409345 -1 known p.G345 0.000 27 0% 20 60% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like EIF5B 9669 genome.wustl.edu 37 2 99977774 99977775 + In_Frame_Ins INS - - TGA novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015904.3 +1 reviewed p.141in_frame_insD 1.000:1.000 - - - - - - - - - NULL IL1R1 3554 genome.wustl.edu 37 2 102789185 102789185 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_000877.2 +1 reviewed p.I293T 0.007 270 0% 229 48.5% 1 0% possibly_damaging(0.92) tolerated(1) neutral(0.371) HMMSmart_SM00409,superfamily_Immunoglobulin IL1RL2 8808 genome.wustl.edu 37 2 102849439 102849439 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003854.2 +1 reviewed p.D384 0.997 113 0% 69 39.1% 0 - - - - HMMSmart_TIR,superfamily_TIR NCK2 8440 genome.wustl.edu 37 2 106509519 106509519 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001004720.2 +1 reviewed p.I344V 1.000 31 0% 27 59.3% 29 37.9% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 RGPD3 653489 genome.wustl.edu 37 2 107069227 107069227 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001144013.1 -1 validated p.R187 1.000 381 0% 299 20.7% 0 - - - - superfamily_SSF48452 CNTNAP5 129684 genome.wustl.edu 37 2 125405392 125405392 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_130773.2 +1 reviewed p.G644D 0.040 42 0% 24 50% 0 - possibly_damaging(0.761) deleterious(0.01) deleterious(0.688) superfamily_ConA_like_lec_gl FAM123C 205147 genome.wustl.edu 37 2 131521789 131521789 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001105193.1 +1 validated p.D715G 0.000 10 0.000 7 0.571 0 - benign(0.195) tolerated(0.23) neutral(0.060) NULL ZEB2 9839 genome.wustl.edu 37 2 145156851 145156851 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014795.3 -1 reviewed p.L635I 1.000 163 0% 109 48.6% 0 - probably_damaging(0.958) tolerated(0.49) neutral(0.412) NULL RIF1 55183 genome.wustl.edu 37 2 152324641 152324643 + In_Frame_Del DEL CTC CTC - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_018151.4 +1 reviewed p.P2244in_frame_del 0.984:0.977:0.994 - - - - - - - - - superfamily_ARM repeat GCA 25801 genome.wustl.edu 37 2 163212991 163212991 + Silent SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000414723 +1 known p.I15T 1.000 89 0% 63 31.7% 15 40% - - - HMMSmart_SM00054,superfamily_EF-hand METTL8 79828 genome.wustl.edu 37 2 172216953 172216953 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000375258 -1 known p.R72* 0.714 381 0.3% 260 45% 1 100% - - - NULL ITGA6 3655 genome.wustl.edu 37 2 173339761 173339761 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001079818.1 +1 reviewed p.V364A 0.992 193 0% 142 35.9% 2 50% possibly_damaging(0.5) tolerated(0.43) neutral(0.181) HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain CDCA7 83879 genome.wustl.edu 37 2 174231979 174231979 + Silent SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_031942.4 +1 reviewed p.Y429 1.000 329 0.3% 188 43.1% 22 45.4% - - - HMMPfam_zf-4CXXC_R1 HOXD13 3239 genome.wustl.edu 37 2 176958191 176958191 + Silent SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_000523.3 +1 reviewed p.S191 1.000 18 0% 11 54.5% 0 - - - - NULL UBE2E3 10477 genome.wustl.edu 37 2 181846877 181846877 + Frame_Shift_Del DEL G G - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006357.2 +1 reviewed p.E37fs 1.000 - - - - - - - - - NULL ANKAR 150709 genome.wustl.edu 37 2 190584302 190584302 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_144708.3 +1 validated p.T672 0.997 87 0% 57 50.9% 1 100% - - - HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat ANKAR 150709 genome.wustl.edu 37 2 190584401 190584401 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_144708.3 +1 validated p.V705 0.001 181 0% 119 44.5% 0 - - - - HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat SGOL2 151246 genome.wustl.edu 37 2 201438257 201438259 + In_Frame_Del DEL AAG AAG - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_152524.5 +1 validated p.E1064in_frame_del 0.000:0.035:0.317 - - - - - - - - - NULL FZD7 8324 genome.wustl.edu 37 2 202900162 202900162 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003507.1 +1 reviewed p.C264 1.000 18 0.000 8 0.750 0 - - - - HMMPfam_Frizzled IKZF2 22807 genome.wustl.edu 37 2 214012391 214012391 + Silent SNP G G C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000442445 -1 known p.V66 0.064 173 0% 98 43.9% 0 - - - - NULL DNAJB2 3300 genome.wustl.edu 37 2 220145301 220145301 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006736.5 +1 validated p.Y23H 1.000 87 0% 45 24.4% 5 20% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain GMPPA 29926 genome.wustl.edu 37 2 220367132 220367132 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_013335.2 +1 reviewed p.G153D 1.000 37 0% 30 50% 17 29.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NTP_transferase,superfamily_Nucleotide-diphospho-sugar transferases COL6A3 1293 genome.wustl.edu 37 2 238296329 238296329 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_004369.3 -1 reviewed p.P403L 1.000 49 0% 33 45.5% 0 - unknown(0) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like SCLY 51540 genome.wustl.edu 37 2 238990350 238990350 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_016510.4 +1 validated p.A162V 0.800 73 0% 58 46.6% 3 0% benign(0.106) tolerated(0.07) neutral(0.327) HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases HDLBP 3069 genome.wustl.edu 37 2 242186199 242186199 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_005336.3 -1 validated p.R640W 0.091 142 0% 75 45.3% 23 52.1% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 GAL3ST2 64090 genome.wustl.edu 37 2 242738570 242738570 + Splice_Site SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_022134.2 +1 reviewed e2+1 0.761 35 0% 19 57.9% 0 - - - - - SETMAR 6419 genome.wustl.edu 37 3 4358103 4358103 + Missense_Mutation SNP T T A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006515.3 +1 validated p.S410T 0.683 14 0% 10 40% 10 30% unknown(0) tolerated(0.61) - NULL SETMAR 6419 genome.wustl.edu 37 3 4358392 4358392 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006515.3 +1 validated p.R506Q 0.811 11 0% 18 50% 14 35.7% unknown(0) tolerated(0.49) - HMMPfam_Transposase_1 CAND2 23066 genome.wustl.edu 37 3 12858245 12858245 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_012298.2 +1 validated p.R512Q 0.975 9 0.000 6 0.667 1 100% benign(0.002) tolerated(0.3) neutral(0.029) superfamily_ARM-type_fold NUP210 23225 genome.wustl.edu 37 3 13417095 13417095 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_024923.2 -1 reviewed p.E447G 1.000 107 0% 55 34.5% 2 0% possibly_damaging(0.822) deleterious(0.04) deleterious(0.660) superfamily_Invasin/intimin cell-adhesion fragments HDAC11 79885 genome.wustl.edu 37 3 13545725 13545725 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_024827.3 +1 reviewed p.D261N 0.996 42 0% 33 51.5% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hist_deacetyl,superfamily_SSF52768 FBXL2 25827 genome.wustl.edu 37 3 33406174 33406174 + Silent SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_012157.3 +1 reviewed p.L85 0.996 162 0% 71 36.6% 2 100% - - - superfamily_SSF52047 EPM2AIP1 9852 genome.wustl.edu 37 3 37034346 37034346 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014805.3 -1 reviewed p.A75T 1.000 13 0% 20 55% 0 - possibly_damaging(0.597) tolerated(0.56) neutral(0.213) NULL SCN10A 6336 genome.wustl.edu 37 3 38805047 38805047 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006514.2 -1 validated p.L214M 1.000 209 0% 115 47% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_Ion_trans,superfamily_SSF81324 CTNNB1 1499 genome.wustl.edu 37 3 41266112 41266112 + Missense_Mutation SNP T T C rs121913228 byCluster TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001098209.1 +1 reviewed p.S37P 1.000 83 0% 44 47.7% 15 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NBEAL2 23218 genome.wustl.edu 37 3 47049339 47049339 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000443829 +1 known p.W852* 1.000 73 0% 57 33.3% 192 39% probably_damaging(0.993) deleterious(0.03) deleterious(0.815) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CDHR4 389118 genome.wustl.edu 37 3 49831150 49831150 + Missense_Mutation SNP C C G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001007540.2 -1 provisional p.V497L 0.007 104 0% 75 52% 0 - benign(0.002) tolerated(0.62) neutral(0.004) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CAMKV 79012 genome.wustl.edu 37 3 49896986 49896986 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_024046.3 -1 validated p.R424K 1.000 92 0% 55 58.2% 0 - benign(0.032) tolerated(0.23) neutral(0.043) NULL C3orf45 132228 genome.wustl.edu 37 3 50324118 50324118 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_153215.1 +1 predicted p.R62 0.001 45 0% 26 42.3% 0 - - - - NULL DNAH1 25981 genome.wustl.edu 37 3 52406259 52406259 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015512.4 +1 validated p.P2228L 0.998 58 0% 37 48.6% 9 44.4% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases STAB1 23166 genome.wustl.edu 37 3 52551980 52551980 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015136.2 +1 reviewed p.T1574 0.001 6 0.000 7 0.857 5 0% - - - superfamily_FAS1 domain,HMMSmart_SM00181 TKT 7086 genome.wustl.edu 37 3 53260877 53260877 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001064.2 -1 validated p.V531M 0.953 175 0% 102 58.8% 1193 45.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Transketolase_C,superfamily_TK C-terminal domain-like LRTM1 57408 genome.wustl.edu 37 3 54958794 54958794 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_020678.2 -1 provisional p.A152 0.026 111 0% 59 52.5% 0 - - - - HMMSmart_SM00369,superfamily_L domain-like WNT5A 7474 genome.wustl.edu 37 3 55513504 55513505 + Frame_Shift_Del DEL GA GA - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003392.3 -1 reviewed p.Q77fs 1.000:0.997 - - - - - - - - - HMMPfam_wnt,HMMSmart_SM00097 FLNB 2317 genome.wustl.edu 37 3 58089742 58089742 + Missense_Mutation SNP G G A rs147001986 by1000genomes TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001457.3 +1 reviewed p.E514K 1.000 71 0% 36 36.1% 0 - possibly_damaging(0.785) tolerated(0.19) neutral(0.343) HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin FLNB 2317 genome.wustl.edu 37 3 58131651 58131651 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001457.3 +1 reviewed p.S1810N 1.000 106 0% 75 20% 1 0% benign(0) deleterious(0) neutral(0.445) HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin EPHA6 285220 genome.wustl.edu 37 3 97454795 97454795 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001080448.2 +1 provisional p.Y987 1.000 88 0% 54 50% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) OR5H2 79310 genome.wustl.edu 37 3 98002244 98002244 + Silent SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001005482.1 +1 provisional p.L171 0.236 200 0% 167 44.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 MORC1 27136 genome.wustl.edu 37 3 108724112 108724112 + Silent SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014429.3 -1 reviewed p.H606 0.006 123 0% 98 48% 0 - - - - NULL SIDT1 54847 genome.wustl.edu 37 3 113286489 113286489 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_017699.2 +1 validated p.V149 0.012 72 0% 27 40.7% 0 - - - - NULL IQCB1 9657 genome.wustl.edu 37 3 121491423 121491423 + Silent SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001023570.2 -1 reviewed p.T516 1.000 126 0% 79 11.4% 14 42.8% - - - NULL DTX3L 151636 genome.wustl.edu 37 3 122287740 122287740 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_138287.3 +1 validated p.Q268 0.000 30 0% 36 47.2% 0 - - - - NULL AMOTL2 51421 genome.wustl.edu 37 3 134077439 134077439 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_016201.2 -1 reviewed p.P743S 0.002 26 0% 12 41.7% 3 0% benign(0) tolerated(0.25) neutral(0.037) NULL PRR23B 389151 genome.wustl.edu 37 3 138739102 138739102 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001013650.2 -1 validated p.D134 0.001 27 0% 18 50% 0 - - - - HMMPfam_DUF2476 MRPS22 56945 genome.wustl.edu 37 3 139069829 139069829 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_020191.2 +1 reviewed p.S220N 0.005 248 0.4% 184 46.7% 32 40.6% benign(0.174) tolerated(0.19) neutral(0.066) HMMPfam_MRP-S22 NAALADL2 254827 genome.wustl.edu 37 3 175184883 175184884 + Frame_Shift_Del DEL AA AA - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_207015.2 +1 validated p.K482fs 0.838:0.871 - - - - - - - - - superfamily_Zn-dependent exopeptidases PIK3CA 5290 genome.wustl.edu 37 3 178921548 178921548 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006218.2 +1 reviewed p.V344M 1.000 87 0% 76 48.7% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_C2,HMMSmart_PI3K_C2,superfamily_C2_CaLB AP2M1 1173 genome.wustl.edu 37 3 183900721 183900721 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000442686 +1 known p.P103L 0.000 11 0% 16 50% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ADIPOQ 9370 genome.wustl.edu 37 3 186571010 186571010 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_004797.3 +1 reviewed p.R55C 0.997 47 0% 25 44% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Collagen MB21D2 151963 genome.wustl.edu 37 3 192517283 192517283 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_178496.3 -1 validated p.P123Q 1.000 44 0% 30 36.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMEM44 93109 genome.wustl.edu 37 3 194337843 194337844 + Frame_Shift_Del DEL CG CG - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 CG CG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_138399.4 -1 validated p.A256fs 0.000:0.043 - - - - - - - - - NULL PCYT1A 5130 genome.wustl.edu 37 3 195997385 195997385 + Silent SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_005017.2 -1 provisional p.S6 0.999 259 0% 135 36.3% 1 100% - - - NULL BDH1 622 genome.wustl.edu 37 3 197239164 197239164 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_004051.4 -1 reviewed p.K212E 1.000 10 0% 12 41.7% 23 47.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_adh_short,PatternScan_ADH_SHORT,superfamily_NAD(P)-bd ENSG00000252150 0 genome.wustl.edu 37 4 461370 461371 + RNA DEL AC AC - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000516341 -1 novel NULL 0.296:0.297 - - - - - - - - - - HTRA3 94031 genome.wustl.edu 37 4 8288312 8288312 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_053044.2 +1 provisional p.V170 1.000 32 0% 23 26.1% 5 0% - - - HMMPfam_Trypsin,superfamily_Trypsin-like serine proteases N4BP2 55728 genome.wustl.edu 37 4 40146335 40146335 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000513269 +1 known p.A1316T 1.000 180 0% 129 52.7% 1 100% - - - NULL NSUN7 79730 genome.wustl.edu 37 4 40810680 40810680 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_024677.4 +1 validated p.P627 0.000 121 0% 97 20.6% 3 33.3% - - - NULL DCAF4L1 285429 genome.wustl.edu 37 4 41984803 41984803 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001029955.3 +1 validated p.V332M 1.000 50 0% 36 47.2% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00320,superfamily_WD40 repeat-like CORIN 10699 genome.wustl.edu 37 4 47605654 47605654 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006587.2 -1 reviewed p.L858F 0.807 102 0% 74 37.8% 0 - benign(0) tolerated(0.36) neutral(0.020) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases NFXL1 152518 genome.wustl.edu 37 4 47912920 47912920 + Silent SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_152995.4 -1 validated p.S109 0.933 358 0.3% 296 48% 0 - - - - NULL CEP135 9662 genome.wustl.edu 37 4 56877964 56877964 + Splice_Site SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_025009.3 +1 validated e20-2 1.000 61 0% 60 55% 0 - - - - - EPHA5 2044 genome.wustl.edu 37 4 66201747 66201747 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_004439.5 -1 reviewed p.R919* 1.000 194 0% 127 40.9% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) UGT2B4 7363 genome.wustl.edu 37 4 70346510 70346511 + Frame_Shift_Ins INS - - A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_021139.2 -1 validated p.R476fs 0.423:0.453 - - - - - - - - - HMMPfam_UDPGT PPEF2 5470 genome.wustl.edu 37 4 76793279 76793279 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006239.2 -1 reviewed p.G516 1.000 91 0% 75 40% 0 - - - - HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases CNOT6L 246175 genome.wustl.edu 37 4 78740203 78740204 + Frame_Shift_Ins INS - - ACACACAC novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000515506 -1 known p.G6fs 0.001:0.003 - - - - - - - - - NULL HPSE 10855 genome.wustl.edu 37 4 84255778 84255778 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001098540.1 -1 validated p.S53N 1.000 15 0% 10 50% 0 - benign(0.392) tolerated(0.33) neutral(0.149) NULL WDFY3 23001 genome.wustl.edu 37 4 85699713 85699713 + Silent SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014991.4 -1 reviewed p.H1487 0.851 166 0% 115 59.1% 0 - - - - NULL GPRIN3 285513 genome.wustl.edu 37 4 90170303 90170303 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_198281.2 -1 validated p.A320V 0.977 37 0% 27 55.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SYNPO2 171024 genome.wustl.edu 37 4 119944626 119944626 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_133477.2 +1 validated p.E49D 0.806 143 0% 83 24.1% 0 - possibly_damaging(0.78) deleterious(0.03) deleterious(0.656) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like SCLT1 132320 genome.wustl.edu 37 4 129857894 129857894 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_144643.2 -1 validated p.A582V 0.008 406 0% 420 45.2% 5 40% benign(0) tolerated(1) - NULL ELMOD2 255520 genome.wustl.edu 37 4 141458656 141458656 + Silent SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_153702.2 +1 validated p.Y120 0.999 295 0% 223 45.3% 1 100% - - - HMMPfam_ELMO_CED12 POU4F2 5458 genome.wustl.edu 37 4 147561144 147561144 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_004575.2 +1 validated p.P138 1.000 162 0% 104 54.8% 0 - - - - NULL POU4F2 5458 genome.wustl.edu 37 4 147561858 147561858 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_004575.2 +1 validated p.A376 1.000 43 0% 27 55.6% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like FGA 2243 genome.wustl.edu 37 4 155507455 155507455 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_000508.3 -1 reviewed p.E376K 0.296 90 0% 67 35.8% 0 - possibly_damaging(0.875) tolerated(0.6) neutral(0.345) HMMPfam_Fib_alpha FAM198B 51313 genome.wustl.edu 37 4 159048589 159048589 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001031700.2 -1 validated p.H518 0.979 358 0% 295 47.8% 1 100% - - - NULL ODZ3 55714 genome.wustl.edu 37 4 183635263 183635263 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001080477.1 +1 provisional p.S749G 1.000 100 0% 102 44.1% 0 - benign(0) tolerated(1) - HMMSmart_EGF,superfamily_ConA_like_lec_gl,superfamily_SSF57196 IRF2 3660 genome.wustl.edu 37 4 185320225 185320225 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_002199.3 -1 reviewed p.Q180* 1.000 85 0% 55 16.4% 4 0% - - - NULL KIAA0947 23379 genome.wustl.edu 37 5 5462895 5462895 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015325.1 +1 validated p.G1150C 0.300 192 0% 148 45.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UGT3A1 133688 genome.wustl.edu 37 5 35954470 35954470 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_152404.3 -1 validated p.T469M 0.000 43 0% 46 10.9% 0 - possibly_damaging(0.598) deleterious(0) deleterious(0.651) HMMPfam_UDPGT RAB3C 115827 genome.wustl.edu 37 5 57913548 57913548 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_138453.2 +1 provisional p.I35V 1.000 77 0% 53 15.1% 0 - benign(0.406) deleterious(0) deleterious(0.575) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 TMEM161B 153396 genome.wustl.edu 37 5 87492168 87492168 + Missense_Mutation SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_153354.3 -1 provisional p.A442S 1.000 175 0% 147 41.5% 2 50% possibly_damaging(0.942) tolerated(0.39) neutral(0.403) HMMPfam_Tmemb_161AB ANKRD32 84250 genome.wustl.edu 37 5 94022372 94022372 + Silent SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_032290.3 +1 validated p.C690 0.998 265 0% 167 49.1% 2 100% - - - NULL EPB41L4A-AS1 114915 genome.wustl.edu 37 5 111496622 111496622 + RNA SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NR_015370.2 +1 validated NULL 0.000 96 0% 53 49.1% 37 27% - - - - PRRC1 133619 genome.wustl.edu 37 5 126883724 126883724 + Missense_Mutation SNP T T G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000442138 +1 known p.F413L 0.000 134 0% 72 47.2% 0 - benign(0.007) - - NULL PHF15 23338 genome.wustl.edu 37 5 133914449 133914451 + In_Frame_Del DEL ACC ACC - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 ACC ACC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015288.4 +1 provisional p.P609in_frame_del 0.991:0.985:0.973 - - - - - - - - - NULL PKD2L2 27039 genome.wustl.edu 37 5 137230127 137230127 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014386.2 +1 validated p.R118H 0.996 223 0% 130 40.8% 0 - benign(0.016) tolerated(0.47) neutral(0.011) HMMPfam_PKD_channel KIF20A 10112 genome.wustl.edu 37 5 137518143 137518143 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_005733.2 +1 validated p.T169 0.197 84 0% 59 16.9% 2 0% - - - HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 PCDHA3 56145 genome.wustl.edu 37 5 140182637 140182637 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_018906.2 +1 reviewed p.R619C 0.959 24 0% 17 82.4% 0 - probably_damaging(0.98) deleterious(0.03) deleterious(0.788) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA13 56136 genome.wustl.edu 37 5 140262036 140262036 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_018904.2 +1 reviewed p.P61 0.907 44 0% 22 40.9% 0 - - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHA13 56136 genome.wustl.edu 37 5 140263782 140263782 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_018904.2 +1 reviewed p.P643 0.000 12 0.000 7 0.571 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB2 56133 genome.wustl.edu 37 5 140474898 140474898 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_018936.2 +1 reviewed p.S175N 0.902 12 0% 18 55.6% 0 - benign(0.033) tolerated(0.15) neutral(0.242) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB8 56128 genome.wustl.edu 37 5 140559299 140559299 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_019120.2 +1 reviewed p.V562M 0.977 30 0% 16 31.2% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Cadherin PCDHB10 56126 genome.wustl.edu 37 5 140573566 140573566 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_018930.3 +1 reviewed p.G481S 0.581 48 0% 38 44.7% 0 - possibly_damaging(0.815) deleterious(0.01) deleterious(0.713) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB12 56124 genome.wustl.edu 37 5 140589922 140589922 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_018932.3 +1 reviewed p.G481 0.016 39 0% 24 41.7% 1 100% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHGA2 56113 genome.wustl.edu 37 5 140720744 140720744 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_018915.2 +1 reviewed p.Q736* 0.022 84 1.2% 47 61.7% 0 - - - - NULL PCDHGA3 56112 genome.wustl.edu 37 5 140725043 140725045 + In_Frame_Del DEL CAA CAA - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 CAA CAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_018916.3 +1 reviewed p.N484in_frame_del 0.822:0.573:0.161 - - - - - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB1 56104 genome.wustl.edu 37 5 140730580 140730580 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_018922.2 +1 reviewed p.N251 0.059 64 0% 44 54.5% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin-like CSF1R 1436 genome.wustl.edu 37 5 149441112 149441112 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_005211.3 -1 reviewed p.T600 0.242 176 0% 136 41.2% 1 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP SLC36A3 285641 genome.wustl.edu 37 5 150657074 150657074 + Missense_Mutation SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001145017.1 -1 validated p.K472N 1.000 72 0% 36 19.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aa_trans FAT2 2196 genome.wustl.edu 37 5 150931044 150931044 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001447.2 -1 reviewed p.R1427H 0.002 106 0% 63 42.9% 0 - benign(0) tolerated(0.52) neutral(0.009) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like GALNT10 55568 genome.wustl.edu 37 5 153709145 153709145 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_198321.3 +1 reviewed p.R139C 1.000 80 0% 53 60.4% 5 80% benign(0.139) tolerated(0.05) neutral(0.357) superfamily_Nucleotide-diphospho-sugar transferases LARP1 23367 genome.wustl.edu 37 5 154173191 154173191 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015315.3 +1 validated p.M182T 1.000 57 0% 51 49% 1 100% benign(0.158) tolerated(0.41) neutral(0.029) NULL GABRA1 2554 genome.wustl.edu 37 5 161322682 161322682 + Silent SNP T T G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_000806.5 +1 reviewed p.T289 1.000 179 0% 121 40.5% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM LCP2 3937 genome.wustl.edu 37 5 169714976 169714976 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_005565.3 -1 reviewed p.V62 0.983 182 0% 93 48.4% 0 - - - - HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 DRD1 1812 genome.wustl.edu 37 5 174870093 174870093 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_000794.3 -1 reviewed p.L4 0.902 19 0% 17 58.8% 0 - - - - NULL CDHR2 54825 genome.wustl.edu 37 5 176003008 176003008 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_017675.4 +1 reviewed p.V339A 1.000 46 0% 25 44% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin HIVEP1 3096 genome.wustl.edu 37 6 12121942 12121942 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_002114.2 +1 validated p.H638 0.000 38 0% 34 55.9% 0 - - - - NULL NUP153 9972 genome.wustl.edu 37 6 17629253 17629253 + Silent SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_005124.2 -1 reviewed p.S1059 0.011 97 0% 84 36.9% 0 - - - - NULL ZBTB22 9278 genome.wustl.edu 37 6 33283317 33283317 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001145338.1 -1 validated p.T459 0.000 47 0% 60 45% 0 - - - - NULL GTPBP2 54676 genome.wustl.edu 37 6 43594060 43594060 + Splice_Site SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000393882 -1 known e1+1 0.997 34 0% 44 50% 2 50% - - - - DST 667 genome.wustl.edu 37 6 56470604 56470604 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000370769 -1 known p.H2730R 0.002 211 0% 194 50.5% 0 - possibly_damaging(0.681) - - NULL AIM1 202 genome.wustl.edu 37 6 106999814 106999814 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001624.2 +1 validated p.G1392 0.996 83 0% 74 41.9% 0 - - - - HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF GPRC6A 222545 genome.wustl.edu 37 6 117113446 117113446 + Missense_Mutation SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_148963.2 -1 validated p.M880I 0.000 127 0% 91 46.2% 0 - benign(0) tolerated(0.89) - NULL PTPRK 5796 genome.wustl.edu 37 6 128404886 128404886 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001135648.1 -1 validated p.P517S 1.000 342 0% 261 47.5% 1 0% probably_damaging(1) tolerated(0.35) deleterious(0.520) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like AHI1 54806 genome.wustl.edu 37 6 135749884 135749884 + Nonsense_Mutation SNP T T A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001134830.1 -1 reviewed p.K836* 1.000 169 0% 149 47.7% 1 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like ADAT2 134637 genome.wustl.edu 37 6 143753673 143753673 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_182503.2 -1 validated p.A143V 1.000 261 0% 156 42.9% 3 0% possibly_damaging(0.894) tolerated(0.11) deleterious(0.623) superfamily_Cytidine deaminase-like SASH1 23328 genome.wustl.edu 37 6 148865016 148865016 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015278.3 +1 validated p.V804M 0.002 54 0% 24 37.5% 0 - benign(0.163) tolerated(0.13) neutral(0.267) NULL LOC100289162 100289162 genome.wustl.edu 37 6 160555197 160555197 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 XM_002342677.1 -1 model p.W299* 0.000 29 0% 23 47.8% 0 - - - - NULL THBS2 7058 genome.wustl.edu 37 6 169632153 169632153 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003247.2 -1 reviewed p.C691 0.998 64 0% 66 45.5% 0 - - - - HMMPfam_EGF,HMMSmart_EGF,PatternScan_EGF_2 TBP 6908 genome.wustl.edu 37 6 170871070 170871070 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003194.4 +1 reviewed p.Q82 1.000 20 0% 12 41.7% 1 100% - - - NULL LOC100132858 100132858 genome.wustl.edu 37 7 35442 35443 + In_Frame_Ins INS - - TGCTGC rs6979484 byCluster TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 XM_001715131.2 -1 model p.86in_frame_insQQ 0.128:0.044 - - - - - - - - - NULL IQCE 23288 genome.wustl.edu 37 7 2632713 2632713 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_152558.3 +1 validated p.C434 0.000 203 0.5% 131 44.3% 0 - - - - NULL TSPAN13 27075 genome.wustl.edu 37 7 16793635 16793635 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014399.3 +1 reviewed p.A15T 1.000 43 0% 24 45.8% 2 0% benign(0.417) tolerated(0.18) neutral(0.191) HMMPfam_Tetraspannin NOD1 10392 genome.wustl.edu 37 7 30472754 30472754 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006092.2 -1 reviewed p.L888S 0.954 295 0% 216 48.1% 7 42.8% benign(0.086) deleterious(0) neutral(0.451) superfamily_SSF52047 C7orf25 79020 genome.wustl.edu 37 7 42949725 42949725 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001099858.1 -1 validated p.V317I 0.998 125 0% 81 44.4% 9 11.1% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) HMMPfam_DUF1308 ABCA13 154664 genome.wustl.edu 37 7 48467450 48467450 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_152701.3 +1 reviewed p.G4183R 0.009 92 0% 52 30.8% 1 0% benign(0.318) - - NULL LIMK1 3984 genome.wustl.edu 37 7 73523268 73523268 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_002314.2 +1 reviewed p.V396M 1.000 40 0% 17 41.2% 9 11.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase GTF2IRD2B 389524 genome.wustl.edu 37 7 74528263 74528263 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001003795.2 +1 reviewed p.G58R 0.967 318 0% 213 25.4% 18 11.1% probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL STYXL1 51657 genome.wustl.edu 37 7 75643143 75643143 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_016086.2 -1 validated p.V124I 0.012 47 0% 37 24.3% 24 25% possibly_damaging(0.771) tolerated(0.13) deleterious(0.539) HMMSmart_SM00450,superfamily_Rhodanese/Cell cycle control phosphatase ARPC1A 10552 genome.wustl.edu 37 7 98951579 98951579 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006409.2 +1 reviewed p.T183M 1.000 62 0% 41 46.3% 71 45% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_WD40 repeat-like SLC26A4 5172 genome.wustl.edu 37 7 107303872 107303872 + Missense_Mutation SNP C C T rs141142414 by1000genomes TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_000441.1 +1 reviewed p.T99M 0.216 130 0.8% 113 48.7% 0 - probably_damaging(0.997) deleterious(0.04) deleterious(0.815) NULL PRRT4 401399 genome.wustl.edu 37 7 127999409 127999409 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001114726.2 -1 validated p.R213C 1.000 27 0% 17 52.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC136 64753 genome.wustl.edu 37 7 128434405 128434405 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_022742.3 +1 validated p.E7G 1.000 36 0% 63 47.6% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL FAM40B 57464 genome.wustl.edu 37 7 129102871 129102871 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_020704.2 +1 validated p.P514L 1.000 37 0% 19 52.6% 1 0% possibly_damaging(0.944) deleterious(0.01) deleterious(0.794) NULL PLXNA4 91584 genome.wustl.edu 37 7 131913111 131913111 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_020911.1 -1 validated p.N574 0.980 68 0% 31 48.4% 0 - - - - NULL NUP205 23165 genome.wustl.edu 37 7 135279304 135279304 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015135.2 +1 validated p.A614T 1.000 96 0% 62 53.2% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KIAA1147 57189 genome.wustl.edu 37 7 141385359 141385359 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001080392.1 -1 provisional p.A149V 0.996 58 0% 43 53.5% 4 25% possibly_damaging(0.568) tolerated(0.37) neutral(0.213) HMMPfam_DUF2347 LRRC61 65999 genome.wustl.edu 37 7 150034401 150034401 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001142928.1 +1 validated p.R151W 0.003 42 0% 26 50% 22 45.4% benign(0.008) tolerated(0.15) neutral(0.241) superfamily_SSF52058 NCAPG2 54892 genome.wustl.edu 37 7 158448132 158448132 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_017760.5 -1 validated p.L802I 0.001 23 0% 14 50% 2 50% benign(0) tolerated(0.4) neutral(0.016) NULL PCM1 5108 genome.wustl.edu 37 8 17830103 17830103 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006197.3 +1 validated p.A1284T 1.000 45 0% 48 68.8% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C8orf58 541565 genome.wustl.edu 37 8 22460132 22460132 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001013842.1 +1 validated p.A321V 0.000 57 0% 43 55.8% 5 60% benign(0.017) tolerated(0.98) neutral(0.001) NULL WHSC1L1 54904 genome.wustl.edu 37 8 38148019 38148019 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_023034.1 -1 reviewed p.T1031I 1.000 155 0% 126 44.4% 0 - benign(0.045) tolerated(0.15) neutral(0.243) HMMPfam_PWWP,superfamily_Tudor/PWWP/MBT ANK1 286 genome.wustl.edu 37 8 41543753 41543753 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001142446.1 -1 reviewed p.R1477Q 1.000 104 0% 54 46.3% 0 - possibly_damaging(0.878) deleterious(0.03) deleterious(0.707) HMMPfam_Death,HMMSmart_DEATH,superfamily_DEATH_like PRKDC 5591 genome.wustl.edu 37 8 48811087 48811087 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000314191 -1 known p.R1136H 1.000 164 0% 110 22.7% 0 - benign(0.299) deleterious(0.05) neutral(0.438) superfamily_ARM repeat MRPL15 29088 genome.wustl.edu 37 8 55055346 55055346 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014175.3 +1 reviewed p.D185N 1.000 300 0% 186 47.8% 45 48.8% benign(0) tolerated(0.33) neutral(0.024) superfamily_SSF52080 TGS1 96764 genome.wustl.edu 37 8 56723560 56723560 + Nonsense_Mutation SNP T T A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_024831.6 +1 validated p.L755* 0.960 380 0.3% 202 17.8% 1 0% - - - HMMPfam_Methyltransf_15,superfamily_S-adenosyl-L-methionine-dependent methyltransferases UBXN2B 137886 genome.wustl.edu 37 8 59343131 59343131 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001077619.1 +1 validated p.T81I 1.000 143 0% 89 50.6% 2 50% possibly_damaging(0.712) tolerated(0.06) deleterious(0.580) NULL CHD7 55636 genome.wustl.edu 37 8 61768610 61768610 + Missense_Mutation SNP A A C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_017780.2 +1 reviewed p.Q2338P 1.000 73 0% 41 46.3% 0 - possibly_damaging(0.918) tolerated(0.07) deleterious(0.688) NULL ARFGEF1 10565 genome.wustl.edu 37 8 68152431 68152431 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006421.3 -1 reviewed p.C982Y 1.000 142 0% 81 42% 0 - probably_damaging(1) tolerated(0.54) deleterious(0.507) superfamily_ARM-type_fold CPA6 57094 genome.wustl.edu 37 8 68340287 68340287 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_020361.4 -1 validated p.T374M 0.998 139 0% 97 44.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases NCOA2 10499 genome.wustl.edu 37 8 71039073 71039073 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006540.2 -1 validated p.Q1297 1.000 203 0% 144 45.8% 0 - - - - HMMPfam_DUF1518 LRRCC1 85444 genome.wustl.edu 37 8 86050651 86050651 + Missense_Mutation SNP A A T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_033402.4 +1 validated p.K927N 0.958 125 0% 99 49.5% 3 66.6% benign(0.001) tolerated(0.73) neutral(0.002) NULL CA3 761 genome.wustl.edu 37 8 86352101 86352101 + Silent SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_005181.3 +1 reviewed p.T65 1.000 81 0% 70 48.6% 0 - - - - HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd ESRP1 54845 genome.wustl.edu 37 8 95654198 95654198 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_017697.3 +1 validated p.H49 0.997 21 0% 24 50% 2 50% - - - NULL TM7SF4 81501 genome.wustl.edu 37 8 105361108 105361108 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_030788.2 +1 reviewed p.H110Y 1.000 87 0% 82 40.2% 0 - possibly_damaging(0.949) deleterious(0.01) deleterious(0.798) NULL EIF3E 3646 genome.wustl.edu 37 8 109229599 109229599 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001568.2 -1 validated p.R271 0.998 274 0% 142 46.5% 148 54% - - - NULL TRPS1 7227 genome.wustl.edu 37 8 116426722 116426722 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014112.2 -1 reviewed p.P1138 1.000 222 0% 147 53.7% 6 33.3% - - - NULL ZNF572 137209 genome.wustl.edu 37 8 125989088 125989088 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_152412.2 +1 validated p.C193Y 1.000 60 0% 24 41.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 TG 7038 genome.wustl.edu 37 8 133923631 133923631 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003235.4 +1 reviewed p.F1338L 0.000 280 0% 192 54.7% 0 - benign(0.005) tolerated(0.4) neutral(0.016) NULL FAM135B 51059 genome.wustl.edu 37 8 139163731 139163731 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015912.3 -1 validated p.Q996R 0.007 67 0% 42 47.6% 0 - possibly_damaging(0.564) deleterious(0) deleterious(0.637) NULL LOC100288076 100288076 genome.wustl.edu 37 8 139890402 139890402 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 XM_002342877.1 +1 model p.A143T 0.856 7 0.000 7 0.714 0 - - - - NULL EIF2C2 27161 genome.wustl.edu 37 8 141559263 141559263 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000220592 -1 known p.A513V 0.576 17 0% 13 61.5% 2 50% benign(0) tolerated(0.37) neutral(0.019) superfamily_Ribonuclease H-like SMARCA2 6595 genome.wustl.edu 37 9 2161822 2161822 + Missense_Mutation SNP C C G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003070.3 +1 reviewed p.A1373G 1.000 90 0% 74 56.8% 0 - benign(0.355) tolerated(0.18) neutral(0.169) superfamily_Bromodomain KIAA1432 57589 genome.wustl.edu 37 9 5742982 5742982 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_020829.2 +1 validated p.Q260* 1.000 489 0% 269 48.3% 0 - - - - superfamily_Amine_DH_B_like FREM1 158326 genome.wustl.edu 37 9 14808127 14808127 + Nonsense_Mutation SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_144966.5 -1 reviewed p.E967* 1.000 142 0% 99 48.5% 0 - - - - NULL SNAPC3 6619 genome.wustl.edu 37 9 15457978 15457978 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001039697.1 +1 validated p.C334Y 1.000 289 0% 228 10.1% 4 0% probably_damaging(1) tolerated(1) deleterious(0.500) NULL DENND4C 55667 genome.wustl.edu 37 9 19328072 19328072 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_017925.4 +1 provisional p.P486L 1.000 166 0% 102 55.9% 0 - probably_damaging(0.979) tolerated(0.16) deleterious(0.481) NULL RPS6 6194 genome.wustl.edu 37 9 19376346 19376346 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001010.2 -1 reviewed p.R232H 1.000 80 0% 51 47.1% 6961 54.4% unknown(0) deleterious(0) - NULL ACO1 48 genome.wustl.edu 37 9 32423377 32423377 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_002197.2 +1 reviewed p.R344Q 1.000 163 0% 117 49.6% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Aconitase,superfamily_Aconitase iron-sulfur domain KIAA1161 57462 genome.wustl.edu 37 9 34371188 34371188 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000297625 -1 known p.P551L 1.000 6 0.000 7 0.714 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases RPP25L 138716 genome.wustl.edu 37 9 34611130 34611130 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_148178.1 -1 validated p.V55A 0.995 42 0% 24 70.8% 57 56.1% possibly_damaging(0.717) deleterious(0.01) deleterious(0.665) HMMPfam_Alba,superfamily_SSF82704 C9orf131 138724 genome.wustl.edu 37 9 35045624 35045624 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_203299.2 +1 validated p.Q1000* 0.000 69 0% 54 46.3% 0 - - - - NULL ZCCHC7 84186 genome.wustl.edu 37 9 37304271 37304271 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_032226.2 +1 validated p.D247 0.997 128 0% 114 17.5% 6 50% - - - HMMPfam_zf-CCHC,HMMSmart_SM00343,superfamily_Retrovirus zinc finger-like domains FRMPD1 22844 genome.wustl.edu 37 9 37740550 37740550 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014907.2 +1 validated p.S675 0.001 40 0% 28 42.9% 0 - - - - NULL APBA1 320 genome.wustl.edu 37 9 72064600 72064600 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001163.3 -1 reviewed p.A694V 1.000 75 0% 37 16.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ BICD2 23299 genome.wustl.edu 37 9 95481023 95481023 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001003800.1 -1 reviewed p.R635H 0.996 44 0% 26 34.6% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_BicD FGD3 89846 genome.wustl.edu 37 9 95738787 95738787 + Silent SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001083536.1 +1 validated p.S83 1.000 18 0% 12 41.7% 0 - - - - NULL PTCH1 5727 genome.wustl.edu 37 9 98209264 98209264 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_000264.3 -1 reviewed p.S1425L 0.994 27 0% 24 58.3% 4 0% - - - NULL C9orf174 100499483 genome.wustl.edu 37 9 100077142 100077142 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_020893.1 +1 predicted p.V420M 0.988 185 0% 131 45.8% 0 - probably_damaging(0.976) deleterious(0.02) deleterious(0.801) NULL C9orf156 51531 genome.wustl.edu 37 9 100672482 100672482 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_016481.3 -1 validated p.P276T 0.045 145 0% 122 41% 11 45.4% benign(0.011) tolerated(0.1) neutral(0.287) NULL GABBR2 9568 genome.wustl.edu 37 9 101068516 101068516 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_005458.7 -1 reviewed p.G706R 1.000 58 0% 37 45.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_3 ZNF462 58499 genome.wustl.edu 37 9 109690308 109690308 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_021224.4 +1 validated p.R1372M 1.000 50 0% 25 64% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00355,superfamily_beta-sandwich domain of Sec23/24 ATP6V1G1 9550 genome.wustl.edu 37 9 117359933 117359933 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_004888.3 +1 reviewed p.R89 0.752 96 0% 76 42.1% 127 52.7% - - - HMMPfam_V-ATPase_G GPR144 347088 genome.wustl.edu 37 9 127230873 127230873 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000446588 +1 known p.A24V 0.454 53 0% 30 40% 0 - unknown(0) - - NULL PBX3 5090 genome.wustl.edu 37 9 128697853 128697853 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006195.5 +1 validated p.E270 1.000 112 0% 87 47.1% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like SNORA65 26783 genome.wustl.edu 37 9 130210845 130210845 + RNA SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NR_002449.1 -1 provisional NULL 0.999 26 0% 24 50% 9 55.5% - - - - DBH 1621 genome.wustl.edu 37 9 136507513 136507513 + Missense_Mutation SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_000787.3 +1 reviewed p.P224H 1.000 42 0% 32 56.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cu2_monooxygen,superfamily_PHM_PNGase_F OLFM1 10439 genome.wustl.edu 37 9 137967647 137967647 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006334.3 +1 reviewed p.Q32R 1.000 39 0% 11 63.6% 0 - unknown(0) - - NULL PFKP 5214 genome.wustl.edu 37 10 3174635 3174636 + Splice_Site INS - - GA novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_002627.3 +1 validated e18+2 0.998:0.331 - - - - - - - - - - NET1 10276 genome.wustl.edu 37 10 5471142 5471142 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001047160.1 +1 validated p.R69C 1.000 115 0% 92 50% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SFMBT2 57713 genome.wustl.edu 37 10 7409703 7409703 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001029880.1 -1 provisional p.R115H 1.000 58 0% 25 64% 0 - probably_damaging(1) tolerated(0.23) deleterious(0.541) HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT C1QL3 389941 genome.wustl.edu 37 10 16562694 16562694 + Missense_Mutation SNP A A C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001010908.1 -1 validated p.V124G 1.000 32 0% 16 50% 0 - benign(0.001) tolerated(0.29) neutral(0.029) HMMSmart_SM00110,superfamily_TNF-like KIAA1217 56243 genome.wustl.edu 37 10 24832181 24832181 + Missense_Mutation SNP T T A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_019590.3 +1 validated p.S1328T 0.000 89 0% 67 49.3% 7 57.1% benign(0) tolerated(0.27) neutral(0.034) NULL SVIL 6840 genome.wustl.edu 37 10 29756739 29756739 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_021738.2 -1 reviewed p.S1970F 0.849 102 0% 69 47.8% 11 36.3% probably_damaging(0.976) deleterious(0.01) deleterious(0.824) HMMSmart_SM00262,superfamily_Actin depolymerizing proteins ZNF33A 7581 genome.wustl.edu 37 10 38343765 38343766 + Frame_Shift_Del DEL AG AG - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006954.1 +1 validated p.N241fs 0.013:0.013 - - - - - - - - - NULL PRKG1 5592 genome.wustl.edu 37 10 53814320 53814320 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006258.2 +1 validated p.T280M 0.994 164 0% 121 45.5% 0 - possibly_damaging(0.579) deleterious(0.02) deleterious(0.582) HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like RHOBTB1 9886 genome.wustl.edu 37 10 62648704 62648704 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014836.4 -1 reviewed p.P241L 1.000 207 0% 142 48.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_BTB/POZ_fold REEP3 221035 genome.wustl.edu 37 10 65379554 65379554 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001001330.2 +1 validated p.R235 0.979 99 0% 63 49.2% 29 62% - - - NULL TET1 80312 genome.wustl.edu 37 10 70405901 70405901 + Missense_Mutation SNP T T A rs10998363 byCluster;byFrequency;by1000genomes TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_030625.2 +1 validated p.L1139I 0.000 163 0% 155 47.7% 0 - benign(0.208) tolerated(0.3) neutral(0.049) NULL CCAR1 55749 genome.wustl.edu 37 10 70525793 70525793 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_018237.2 +1 validated p.L752P 1.000 131 0% 107 42.1% 21 52.3% unknown(0) deleterious(0) - NULL SYNPO2L 79933 genome.wustl.edu 37 10 75407557 75407557 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001114133.1 -1 validated p.A618V 1.000 37 0% 12 41.7% 0 - benign(0.097) deleterious(0.01) neutral(0.413) NULL KCNMA1 3778 genome.wustl.edu 37 10 78868273 78868273 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001014797.2 -1 reviewed p.Y397H 1.000 161 0% 100 37% 0 - possibly_damaging(0.901) deleterious(0) deleterious(0.801) NULL DLG5 9231 genome.wustl.edu 37 10 79576791 79576791 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_004747.3 -1 reviewed p.P1283L 0.999 221 0% 167 42.5% 2 0% benign(0.049) deleterious(0.01) neutral(0.409) NULL DLG5 9231 genome.wustl.edu 37 10 79590511 79590511 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_004747.3 -1 reviewed p.F623 1.000 83 0% 58 10.3% 1 0% - - - HMMPfam_PDZ,superfamily_PDZ domain-like POLR3A 11128 genome.wustl.edu 37 10 79781726 79781726 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_007055.3 -1 validated p.Q314* 1.000 88 0% 64 51.6% 0 - - - - HMMSmart_RPOLA_N,HMMPfam_RNA_pol_Rpb1_1,superfamily_SSF64484 PTEN 5728 genome.wustl.edu 37 10 89685281 89685294 + Frame_Shift_Del DEL CAAAGCATAAAAAC CAAAGCATAAAAAC - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 CAAAGCATAAAAAC CAAAGCATAAAAAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000371953 +1 known p.K60fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89717672 89717672 + Nonsense_Mutation SNP C C T rs121909219 byCluster TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000371953 +1 known p.R233* 0.984 145 0% 104 48.1% 16 56.2% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 IFIT2 3433 genome.wustl.edu 37 10 91066930 91066930 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001547.4 +1 validated p.R406M 0.000 153 0% 87 10.3% 0 - benign(0.149) tolerated(0.23) neutral(0.054) superfamily_SSF48452 BTAF1 9044 genome.wustl.edu 37 10 93711261 93711261 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003972.2 +1 validated p.L168F 1.000 161 0% 131 47.3% 0 - probably_damaging(0.953) deleterious(0.01) deleterious(0.802) superfamily_ARM repeat BTAF1 9044 genome.wustl.edu 37 10 93773674 93773674 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003972.2 +1 validated p.A1491V 1.000 228 0% 127 50.4% 5 0% possibly_damaging(0.686) deleterious(0.01) deleterious(0.651) HMMPfam_SNF2_N FBXW4 6468 genome.wustl.edu 37 10 103372159 103372159 + Silent SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_022039.3 -1 reviewed p.P304 0.993 41 0% 22 45.5% 56 50% - - - HMMSmart_WD40,superfamily_WD40_like SFR1 119392 genome.wustl.edu 37 10 105883632 105883632 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001002759.1 +1 validated p.Q99R 0.177 83 0% 62 33.9% 2 50% benign(0.001) tolerated(0.12) neutral(0.261) HMMPfam_Mei5 KIAA1598 57698 genome.wustl.edu 37 10 118666215 118666215 + Missense_Mutation SNP A A C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001127211.1 -1 validated p.L468R 1.000 217 0% 146 44.5% 1 0% benign(0.34) tolerated(0.23) neutral(0.149) NULL WDR11 55717 genome.wustl.edu 37 10 122646251 122646251 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_018117.11 +1 reviewed p.A675V 1.000 101 0% 67 44.8% 4 0% benign(0.001) tolerated(1) - superfamily_WD40_like UROS 7390 genome.wustl.edu 37 10 127503639 127503639 + Missense_Mutation SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_000375.2 -1 reviewed p.A70S 0.000 154 0% 97 39.2% 13 38.4% benign(0.027) deleterious(0) neutral(0.446) HMMPfam_HEM4,superfamily_Uroporphyrinogen III synthase (U3S HemD) ADAM12 8038 genome.wustl.edu 37 10 127738177 127738177 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003474.4 -1 reviewed p.G560 0.991 102 0% 61 50.8% 0 - - - - HMMPfam_ADAM_CR,HMMSmart_SM00608 DOCK1 1793 genome.wustl.edu 37 10 128841417 128841417 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000398025 +1 known p.T709 0.000 232 0% 201 41.8% 1 0% - - - NULL JAKMIP3 282973 genome.wustl.edu 37 10 133950772 133950772 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001105521.2 +1 provisional p.A421 0.782 52 0% 35 34.3% 0 - - - - NULL DEAF1 10522 genome.wustl.edu 37 11 674719 674719 + Silent SNP C C T rs187523180 by1000genomes TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_021008.2 -1 validated p.A440 0.000 24 0% 21 23.8% 91 16.4% - - - NULL MUC6 4588 genome.wustl.edu 37 11 1024973 1024973 + Missense_Mutation SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_005961.2 -1 validated p.K1032N 1.000 41 0% 17 35.3% 0 - unknown(0) deleterious(0) - NULL MUC5B 727897 genome.wustl.edu 37 11 1269116 1269116 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_002458.1 +1 validated p.G3672D 0.001 127 0% 73 38.4% 8 37.5% unknown(0) - - NULL MUC5B 727897 genome.wustl.edu 37 11 1271469 1271469 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_002458.1 +1 validated p.P4456 0.000 150 0% 105 48.6% 14 0% - - - NULL DCHS1 8642 genome.wustl.edu 37 11 6646867 6646867 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003737.2 -1 reviewed p.P2275T 1.000 25 0% 18 38.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin NLRP14 338323 genome.wustl.edu 37 11 7068046 7068046 + Silent SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_176822.3 +1 reviewed p.C702 1.000 151 0% 113 47.8% 0 - - - - superfamily_SSF52047 COPB1 1315 genome.wustl.edu 37 11 14504652 14504652 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001144061.1 -1 reviewed p.N295D 1.000 139 0% 106 34% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adaptin_N,superfamily_ARM-type_fold IGSF22 283284 genome.wustl.edu 37 11 18735879 18735879 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_173588.3 -1 validated p.G581 1.000 56 0% 35 48.6% 0 - - - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 SLC17A6 57084 genome.wustl.edu 37 11 22399005 22399005 + Nonsense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_020346.2 +1 validated p.G490* 1.000 108 0% 63 42.9% 0 - - - - superfamily_MFS_gen_substrate_transporter LGR4 55366 genome.wustl.edu 37 11 27389662 27389662 + Missense_Mutation SNP C C G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_018490.2 -1 validated p.V870L 0.055 62 0% 58 51.7% 0 - benign(0.059) tolerated(0.23) neutral(0.045) NULL MPPED2 744 genome.wustl.edu 37 11 30439137 30439137 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001584.2 -1 reviewed p.Q194* 1.000 69 0% 39 35.9% 0 - - - - HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases C11orf41 25758 genome.wustl.edu 37 11 33566610 33566610 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_012194.1 +1 validated p.A733V 0.898 55 0% 81 55.6% 0 - possibly_damaging(0.442) deleterious(0.02) deleterious(0.527) NULL TTC17 55761 genome.wustl.edu 37 11 43419014 43419014 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_018259.5 +1 validated p.S297 1.000 155 0% 100 35% 0 - - - - HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 DDB2 1643 genome.wustl.edu 37 11 47259499 47259499 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_000107.2 +1 reviewed p.S379P 1.000 94 0% 53 11.3% 23 13% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) superfamily_WD40 repeat-like NR1H3 10062 genome.wustl.edu 37 11 47282217 47282217 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_005693.2 +1 validated p.R164W 1.000 25 0% 11 36.4% 9 11.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain) PTPRJ 5795 genome.wustl.edu 37 11 48181546 48181546 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_002843.3 +1 reviewed p.M1168T 0.385 104 0% 78 53.8% 2 0% possibly_damaging(0.441) tolerated(0.23) neutral(0.185) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 ZDHHC5 25921 genome.wustl.edu 37 11 57466827 57466827 + Missense_Mutation SNP A A C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015457.2 +1 validated p.Q640P 1.000 30 0% 13 53.8% 48 43.7% benign(0.02) tolerated(0.43) neutral(0.014) NULL BTBD18 643376 genome.wustl.edu 37 11 57511836 57511836 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001145101.1 -1 validated p.G637R 0.003 76 0% 59 39% 0 - benign(0.004) deleterious(0) neutral(0.445) NULL DTX4 23220 genome.wustl.edu 37 11 58949673 58949673 + Nonsense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015177.1 +1 validated p.G225* 0.453 7 0.000 16 0.562 2 0% - - - NULL GPR137 56834 genome.wustl.edu 37 11 64054042 64054042 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_020155.3 +1 validated p.P16S 1.000 41 0% 22 40.9% 17 52.9% possibly_damaging(0.771) deleterious(0) deleterious(0.731) NULL GPR137 56834 genome.wustl.edu 37 11 64055311 64055311 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_020155.3 +1 validated p.V176I 1.000 12 0% 33 36.4% 29 55.1% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL KLC2 64837 genome.wustl.edu 37 11 66029435 66029435 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001134775.1 +1 validated p.S151P 0.991 30 0% 27 51.9% 6 50% benign(0) tolerated(0.16) neutral(0.059) HMMPfam_Rab5-bind INPPL1 3636 genome.wustl.edu 37 11 71944516 71944516 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001567.3 +1 reviewed p.R691Q 1.000 80 0% 35 57.1% 33 60.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IPPc,HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos INPPL1 3636 genome.wustl.edu 37 11 71949201 71949201 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001567.3 +1 reviewed p.D1223G 1.000 40 0% 19 68.4% 118 34.7% probably_damaging(0.965) deleterious(0) deleterious(0.851) HMMPfam_SAM_1,HMMSmart_SAM,superfamily_SAM_homology P2RY6 5031 genome.wustl.edu 37 11 73007750 73007750 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_004154.3 +1 reviewed p.V63M 0.852 66 0% 59 47.5% 3 0% possibly_damaging(0.913) deleterious(0.01) deleterious(0.770) HMMPfam_7tm_1,superfamily_SSF81321 LOC100287896 100287896 genome.wustl.edu 37 11 74208979 74208979 + Silent SNP T T G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 XM_002343118.1 +1 model p.L343 0.437 49 0% 36 61.1% 3 33.3% - - - NULL LRRC32 2615 genome.wustl.edu 37 11 76371133 76371133 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001128922.1 -1 reviewed p.G502R 1.000 7 0.000 9 0.444 1 0% benign(0.405) tolerated(0.05) deleterious(0.476) superfamily_SSF52058 NOX4 50507 genome.wustl.edu 37 11 89133422 89133422 + Missense_Mutation SNP G G C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_016931.3 -1 reviewed p.I324M 0.872 168 0% 98 49% 0 - benign(0.026) deleterious(0.01) neutral(0.407) HMMPfam_FAD_binding_8,superfamily_Riboflavin synthase domain-like TRIM77P 390231 genome.wustl.edu 37 11 89515071 89515071 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000398290 +1 known p.T294 0.002 61 0% 51 25.5% 0 - - - - NULL CEP57 9702 genome.wustl.edu 37 11 95546160 95546160 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014679.3 +1 validated p.Q89 0.998 161 0% 108 40.7% 1 0% unknown(0) - - NULL PDZD3 79849 genome.wustl.edu 37 11 119058824 119058824 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_024791.3 +1 validated p.R264Q 0.996 25 0% 10 60% 0 - probably_damaging(0.993) deleterious(0.02) deleterious(0.833) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ CHEK1 1111 genome.wustl.edu 37 11 125505413 125505413 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001114121.1 +1 validated p.D235N 0.978 86 1.2% 42 40.5% 2 0% benign(0.019) tolerated(0.38) neutral(0.019) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KIRREL3 84623 genome.wustl.edu 37 11 126343309 126343309 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_032531.3 -1 reviewed p.A162 0.001 30 0% 22 36.4% 1 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin ARHGAP32 9743 genome.wustl.edu 37 11 128843183 128843183 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001142685.1 -1 validated p.L1059S 0.632 138 0% 90 50% 0 - possibly_damaging(0.647) deleterious(0) deleterious(0.671) NULL CACNA2D4 93589 genome.wustl.edu 37 12 1995181 1995181 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_172364.4 -1 reviewed p.E340K 1.000 64 0% 57 49.1% 0 - probably_damaging(0.998) tolerated(0.24) deleterious(0.512) HMMSmart_SM00327,superfamily_vWA-like KCNA6 3742 genome.wustl.edu 37 12 4920503 4920503 + Silent SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_002235.3 +1 reviewed p.T432 0.005 87 0% 61 49.2% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 USP5 8078 genome.wustl.edu 37 12 6966812 6966812 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001098536.1 +1 validated p.E263D 0.998 49 0% 34 58.8% 2 50% probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_zf-UBP RBP5 83758 genome.wustl.edu 37 12 7280847 7280847 + Nonsense_Mutation SNP G G A rs191452484 by1000genomes TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_031491.2 -1 provisional p.R81* 1.000 98 0% 60 51.7% 1 100% - - - HMMPfam_Lipocalin,superfamily_Calycin CD163L1 283316 genome.wustl.edu 37 12 7548789 7548789 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_174941.4 -1 reviewed p.S651F 0.050 99 1% 70 51.4% 0 - benign(0) tolerated(0.05) neutral(0.345) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like LOC100287458 100287458 genome.wustl.edu 37 12 8372278 8372278 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 XM_002343152.1 +1 model p.L24 0.001 119 0% 39 33.3% 0 - - - - NULL STRAP 11171 genome.wustl.edu 37 12 16052953 16052953 + Silent SNP A A T rs34382225 TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_007178.3 +1 validated p.G297 1.000 205 0% 113 53.1% 23 0% - - - NULL PIK3C2G 5288 genome.wustl.edu 37 12 18715764 18715764 + Missense_Mutation SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_004570.4 +1 reviewed p.L1199M 0.002 196 0% 149 41.6% 0 - benign(0.246) tolerated(0.41) neutral(0.040) superfamily_PX domain KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C G rs121913529 byCluster TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_033360.2 -1 reviewed p.G12A 1.000 201 0% 113 47.8% 1 0% possibly_damaging(0.434) deleterious(0.03) deleterious(0.506) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases FAR2 55711 genome.wustl.edu 37 12 29446331 29446331 + Missense_Mutation SNP G G C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_018099.3 +1 provisional p.E96D 0.994 156 0% 203 40.9% 1 100% possibly_damaging(0.795) tolerated(0.28) neutral(0.330) HMMPfam_NAD_binding_4,superfamily_NAD(P)-bd CAPRIN2 65981 genome.wustl.edu 37 12 30869587 30869587 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001002259.1 -1 validated p.L773 1.000 514 0% 473 44.4% 2 50% - - - NULL LRRK2 120892 genome.wustl.edu 37 12 40714929 40714929 + Silent SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_198578.3 +1 reviewed p.G1703 0.995 303 0.3% 208 43.8% 0 - - - - NULL FAM113B 91523 genome.wustl.edu 37 12 47629981 47629981 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_138371.1 +1 predicted p.L379 0.034 137 0% 82 53.7% 42 52.3% - - - NULL ADCY6 112 genome.wustl.edu 37 12 49170284 49170284 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015270.3 -1 reviewed p.R488W 1.000 18 0% 13 53.8% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,PatternScan_GUANYLATE_CYCLASE_1 KRT71 112802 genome.wustl.edu 37 12 52938419 52938419 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_033448.2 -1 reviewed p.V490A 0.587 33 0% 31 29% 0 - benign(0.01) tolerated(0.96) neutral(0.001) NULL KRT3 3850 genome.wustl.edu 37 12 53189576 53189576 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_057088.2 -1 reviewed p.R84Q 0.102 290 0% 144 54.2% 0 - unknown(0) deleterious(0.04) - NULL LOC100288280 100288280 genome.wustl.edu 37 12 55808224 55808224 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 XM_002343188.1 +1 model p.W15C 0.585 85 0% 65 58.5% 3 0% - - - NULL RDH5 5959 genome.wustl.edu 37 12 56117834 56117834 + Splice_Site SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_002905.3 +1 reviewed e3+1 1.000 16 0% 12 66.7% 6 50% - - - - TIMELESS 8914 genome.wustl.edu 37 12 56817597 56817597 + Silent SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003920.3 -1 validated p.L650 0.063 172 0% 103 39.8% 1 100% - - - NULL MYF6 4618 genome.wustl.edu 37 12 81101669 81101669 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_002469.2 +1 reviewed p.S57 0.982 43 0% 21 47.6% 0 - - - - HMMPfam_Basic,HMMSmart_SM00520 FGD6 55785 genome.wustl.edu 37 12 95485509 95485509 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_018351.3 -1 validated p.H1275R 0.674 287 0% 224 44.6% 1 0% benign(0.001) tolerated(0.57) neutral(0.006) HMMPfam_FYVE,HMMSmart_SM00064,superfamily_FYVE/PHD zinc finger UTP20 27340 genome.wustl.edu 37 12 101706034 101706034 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014503.2 +1 validated p.P844 0.006 75 0% 48 58.3% 0 - - - - superfamily_ARM repeat MYBPC1 4604 genome.wustl.edu 37 12 102045111 102045111 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_002465.2 +1 validated p.W489L 1.000 200 0.5% 136 39.7% 0 - benign(0.026) deleterious(0.02) neutral(0.384) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin UBE3B 89910 genome.wustl.edu 37 12 109924379 109924379 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_130466.2 +1 reviewed p.K149R 1.000 107 0% 87 36.8% 1 100% benign(0.183) tolerated(0.28) neutral(0.049) NULL TCTN1 79600 genome.wustl.edu 37 12 111085554 111085554 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001082538.2 +1 reviewed p.A546T 0.001 61 0% 49 38.8% 156 44.2% benign(0) tolerated(0.81) neutral(0.001) NULL NOS1 4842 genome.wustl.edu 37 12 117685236 117685236 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_000620.2 -1 reviewed p.E914K 1.000 103 0% 51 25.5% 0 - possibly_damaging(0.891) tolerated(0.34) neutral(0.373) HMMPfam_Flavodoxin_1,superfamily_Flavoproteins TCTN2 79867 genome.wustl.edu 37 12 124189157 124189157 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_024809.3 +1 validated p.L564P 0.086 50 0% 18 44.4% 7 57.1% probably_damaging(0.978) deleterious(0.01) deleterious(0.826) NULL DNAH10 196385 genome.wustl.edu 37 12 124270411 124270411 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_207437.3 +1 validated p.P389L 1.000 61 0% 29 27.6% 0 - benign(0.122) tolerated(0.26) neutral(0.044) HMMPfam_DHC_N1 ZNF268 10795 genome.wustl.edu 37 12 133779658 133779658 + Silent SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003415.2 +1 validated p.H462 0.830 157 0% 93 38.7% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SHISA2 387914 genome.wustl.edu 37 13 26620840 26620840 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001007538.1 -1 provisional p.T233 0.980 67 0% 52 46.2% 1 0% - - - NULL CCDC169 728591 genome.wustl.edu 37 13 36869990 36869990 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001144981.1 -1 validated p.A30T 0.869 406 0% 311 11.9% 0 - benign(0.039) tolerated(0.12) neutral(0.263) NULL KIAA0226L 80183 genome.wustl.edu 37 13 46919711 46919711 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_025113.2 -1 validated p.V552 0.997 50 0% 21 42.9% 3 0% - - - NULL DIAPH3 81624 genome.wustl.edu 37 13 60565356 60565356 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001042517.1 -1 validated p.A433T 0.993 209 0% 156 48.1% 0 - probably_damaging(0.989) deleterious(0.05) deleterious(0.785) HMMPfam_Drf_FH3 LOC643677 643677 genome.wustl.edu 37 13 103388024 103388024 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 XM_002344085.1 -1 model p.T4856I 0.004 308 0% 255 51% 0 - possibly_damaging(0.539) deleterious(0.01) deleterious(0.588) NULL ATP11A 23250 genome.wustl.edu 37 13 113510240 113510240 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_032189.3 +1 reviewed p.M753I 0.991 75 0% 41 46.3% 0 - benign(0.025) tolerated(0.39) neutral(0.017) superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M TFDP1 7027 genome.wustl.edu 37 13 114288230 114288230 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_007111.4 +1 reviewed p.R167Q 1.000 75 0% 53 13.2% 16 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E2F_TDP,superfamily_SSF46785 ACIN1 22985 genome.wustl.edu 37 14 23549377 23549378 + Frame_Shift_Ins INS - - G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014977.3 -1 validated p.V448fs 1.000:1.000 - - - - - - - - - NULL LTB4R 1241 genome.wustl.edu 37 14 24785035 24785035 + Missense_Mutation SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001143919.2 +1 validated p.L60M 0.997 86 0% 68 48.5% 25 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 LRFN5 145581 genome.wustl.edu 37 14 42356394 42356394 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_152447.3 +1 validated p.G189E 1.000 99 0% 87 12.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 NID2 22795 genome.wustl.edu 37 14 52534598 52534598 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_007361.3 -1 validated p.R171H 0.004 8 0.000 10 0.400 0 - probably_damaging(0.969) deleterious(0.01) deleterious(0.817) HMMSmart_SM00539 KIAA0586 9786 genome.wustl.edu 37 14 58938915 58938915 + Splice_Site SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014749.3 +1 validated e17-2 0.997 165 0% 110 52.7% 0 - - - - - ACOT4 122970 genome.wustl.edu 37 14 74061969 74061969 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_152331.3 +1 validated p.V293M 0.993 64 0% 30 40% 9 33.3% benign(0.122) tolerated(0.23) neutral(0.052) HMMPfam_BAAT_C,superfamily_SSF53474 RPS6KL1 83694 genome.wustl.edu 37 14 75388104 75388104 + Silent SNP A A T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_031464.3 -1 validated p.R47 0.811 46 0% 25 36% 0 - - - - HMMSmart_MIT GPR65 8477 genome.wustl.edu 37 14 88477252 88477252 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003608.3 +1 validated p.Y21H 0.995 118 0% 126 50.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like TRAF3 7187 genome.wustl.edu 37 14 103352603 103352603 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003300.2 +1 reviewed p.S216 0.948 23 0% 17 47.1% 2 0% - - - HMMPfam_zf-TRAF AHNAK2 113146 genome.wustl.edu 37 14 105412392 105412392 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_138420.2 -1 validated p.A3132 0.000 101 0% 39 69.2% 0 - - - - NULL PACS2 23241 genome.wustl.edu 37 14 105851300 105851300 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001100913.1 +1 validated p.A659V 1.000 31 0% 15 53.3% 20 30% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pacs-1 LOC283685 283685 genome.wustl.edu 37 15 23685826 23685828 + In_Frame_Del DEL TCT TCT - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 XM_002343322.1 -1 model p.K528in_frame_del 0.000:0.000:0.000 - - - - - - - - - NULL JMJD7 100137047 genome.wustl.edu 37 15 42129090 42129090 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001114632.1 +1 validated p.P272S 1.000 32 0% 20 55% 75 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00558,superfamily_Clavaminate synthase-like TRPM7 54822 genome.wustl.edu 37 15 50862153 50862155 + In_Frame_Del DEL CTC CTC - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_017672.4 -1 reviewed p.G1799in_frame_del 1.000:0.993:1.000 - - - - - - - - - HMMPfam_Alpha_kinase,HMMSmart_Alpha_kinase,superfamily_Kinase_like NARG2 79664 genome.wustl.edu 37 15 60728342 60728342 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_024611.4 -1 validated p.K837R 1.000 152 0% 110 50.9% 3 66.6% possibly_damaging(0.837) deleterious(0.04) deleterious(0.668) HMMPfam_NARG2_C HERC1 8925 genome.wustl.edu 37 15 64011054 64011055 + Frame_Shift_Ins INS - - T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003922.3 -1 reviewed p.T1262fs 1.000:1.000 - - - - - - - - - NULL PDCD7 10081 genome.wustl.edu 37 15 65421428 65421428 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_005707.1 -1 reviewed p.D317 0.993 350 0% 236 47.5% 3 66.6% - - - NULL ITGA11 22801 genome.wustl.edu 37 15 68624739 68624739 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001004439.1 -1 reviewed p.G501 0.829 20 0% 23 52.2% 2 0% - - - HMMPfam_FG-GAP,HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain CYP1A2 1544 genome.wustl.edu 37 15 75047325 75047325 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_000761.3 +1 reviewed p.V483M 0.004 32 0% 24 37.5% 0 - probably_damaging(0.998) tolerated(0.1) deleterious(0.761) HMMPfam_p450,superfamily_Cytochrome_P450 LMAN1L 79748 genome.wustl.edu 37 15 75111596 75111596 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_021819.2 +1 validated p.A234V 1.000 170 0% 86 46.5% 0 - probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_Lectin_leg-like,superfamily_Concanavalin A-like lectins/glucanases SYNM 23336 genome.wustl.edu 37 15 99670836 99670836 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_145728.2 +1 reviewed p.A757V 0.000 63 0% 56 46.4% 1 0% - - - NULL WFIKKN1 117166 genome.wustl.edu 37 16 682616 682616 + Missense_Mutation SNP T T A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_053284.2 +1 reviewed p.V69E 1.000 9 0.000 13 0.385 1 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_WAP,HMMSmart_WAP,superfamily_WAP MAPK8IP3 23162 genome.wustl.edu 37 16 1812350 1812350 + Splice_Site SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015133.3 +1 reviewed e14-2 1.000 31 0% 20 45% 7 100% - - - - TRAP1 10131 genome.wustl.edu 37 16 3713495 3713497 + In_Frame_Del DEL CTT CTT - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_016292.2 -1 validated p.K546in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_HSP90 LITAF 9516 genome.wustl.edu 37 16 11647396 11647396 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001136472.1 -1 reviewed p.L124M 1.000 25 0% 41 48.8% 10 90% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMSmart_SM00714,HMMPfam_zf-LITAF-like C16orf45 89927 genome.wustl.edu 37 16 15680603 15680603 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_033201.2 +1 validated p.P178S 1.000 16 0% 15 66.7% 2 0% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL SMG1 23049 genome.wustl.edu 37 16 18856797 18856797 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015092.4 -1 reviewed p.P2058Q 0.999 133 0% 92 10.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL EEF2K 29904 genome.wustl.edu 37 16 22277718 22277718 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_013302.3 +1 reviewed p.V483A 1.000 68 0% 38 52.6% 2 0% possibly_damaging(0.815) tolerated(0.79) neutral(0.308) NULL IL21R 50615 genome.wustl.edu 37 16 27445739 27445739 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_021798.2 +1 reviewed p.N41D 0.578 80 0% 38 65.8% 0 - benign(0) tolerated(0.24) neutral(0.037) NULL KIAA0556 23247 genome.wustl.edu 37 16 27788981 27788981 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015202.2 +1 validated p.S1534 1.000 32 0% 26 57.7% 2 50% - - - NULL TAOK2 9344 genome.wustl.edu 37 16 29996670 29996670 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_016151.2 +1 validated p.H520R 1.000 8 0.000 10 0.400 13 15.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ZNF785 146540 genome.wustl.edu 37 16 30593994 30593994 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_152458.5 -1 provisional p.R369C 0.002 16 0% 13 38.5% 2 50% benign(0.044) deleterious(0.01) neutral(0.408) NULL ITGAM 3684 genome.wustl.edu 37 16 31332563 31332563 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_000632.3 +1 reviewed p.R570Q 0.770 201 0% 121 43.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_Int_alpha,superfamily_SSF69318 NOD2 64127 genome.wustl.edu 37 16 50744940 50744940 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_022162.1 +1 reviewed p.R373H 0.004 50 0% 29 51.7% 1 0% probably_damaging(0.998) tolerated(0.2) deleterious(0.523) HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases SALL1 6299 genome.wustl.edu 37 16 51175655 51175656 + In_Frame_Ins INS - - GCT novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_002968.2 -1 reviewed p.159in_frame_insS 0.005:0.007 - - - - - - - - - NULL CDH5 1003 genome.wustl.edu 37 16 66429989 66429989 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001795.3 +1 reviewed p.K415N 0.485 61 0% 43 53.5% 0 - benign(0.01) tolerated(0.5) neutral(0.011) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like KCTD19 146212 genome.wustl.edu 37 16 67337088 67337088 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001100915.1 -1 provisional p.A202T 1.000 53 0% 19 47.4% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_BTB/POZ_fold TMCO7 79613 genome.wustl.edu 37 16 68943267 68943267 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_024562.1 +1 validated p.E652K 0.992 66 0% 54 40.7% 0 - benign(0.003) tolerated(0.48) neutral(0.011) superfamily_ARM repeat,HMMPfam_DUF2435 TMCO7 79613 genome.wustl.edu 37 16 68961563 68961563 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_024562.1 +1 validated p.L740 0.573 167 0% 201 48.8% 1 100% - - - superfamily_ARM repeat,HMMPfam_DUF2435 ST3GAL2 6483 genome.wustl.edu 37 16 70422438 70422438 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006927.3 -1 reviewed p.A182V 1.000 40 0% 23 52.2% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_29 WDR59 79726 genome.wustl.edu 37 16 74927608 74927608 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_030581.3 -1 validated p.P657S 1.000 202 0% 116 16.4% 9 22.2% benign(0.001) tolerated(0.4) neutral(0.016) NULL C16orf46 123775 genome.wustl.edu 37 16 81095044 81095044 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_152337.2 -1 validated p.L304M 0.958 71 0% 66 51.5% 0 - possibly_damaging(0.483) deleterious(0) deleterious(0.605) NULL JPH3 57338 genome.wustl.edu 37 16 87723822 87723822 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_020655.2 +1 reviewed p.L619P 0.977 9 0.000 8 0.625 0 - benign(0.038) deleterious(0.04) neutral(0.351) NULL ZZEF1 23140 genome.wustl.edu 37 17 3968074 3968074 + Silent SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015113.3 -1 validated p.T1433 0.168 18 0% 15 60% 0 - - - - NULL PHF23 79142 genome.wustl.edu 37 17 7139464 7139466 + In_Frame_Del DEL TCT TCT - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_024297.2 -1 validated p.E261in_frame_del 0.962:0.995:0.987 - - - - - - - - - NULL MYH10 4628 genome.wustl.edu 37 17 8457295 8457295 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_005964.1 -1 validated p.I256 0.897 145 0% 137 43.1% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH10 4628 genome.wustl.edu 37 17 8526255 8526255 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_005964.1 -1 validated p.N104D 1.000 225 0% 198 47.5% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH2 4620 genome.wustl.edu 37 17 10451216 10451216 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001100112.1 -1 reviewed p.A8T 1.000 89 0% 68 42.6% 0 - benign(0.008) deleterious(0.04) neutral(0.349) NULL ALDH3A1 218 genome.wustl.edu 37 17 19646481 19646481 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000333946 -1 known p.D70N 0.000 17 0% 11 54.5% 0 - - - - NULL C17orf51 339263 genome.wustl.edu 37 17 21438641 21438641 + Missense_Mutation SNP T T A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001113434.3 -1 validated p.R196W 0.007 104 0% 71 47.9% 0 - unknown(0) - - NULL SEBOX 645832 genome.wustl.edu 37 17 26691547 26691547 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001080837.2 -1 validated p.P132S 0.004 86 0% 35 48.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CRLF3 51379 genome.wustl.edu 37 17 29131039 29131039 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015986.3 -1 validated p.R73* 1.000 172 0% 99 50.5% 7 42.8% - - - NULL TEFM 79736 genome.wustl.edu 37 17 29231161 29231161 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_024683.3 -1 validated p.R140W 0.000 203 0.5% 168 41.7% 5 20% possibly_damaging(0.819) deleterious(0.02) deleterious(0.693) NULL SLFN13 146857 genome.wustl.edu 37 17 33771672 33771673 + Frame_Shift_Ins INS - - T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_144682.5 -1 validated p.T343fs 0.000:0.000 - - - - - - - - - NULL RASL10B 91608 genome.wustl.edu 37 17 34062393 34062393 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_033315.3 +1 validated p.S64G 1.000 41 0% 21 38.1% 0 - benign(0) tolerated(0.4) neutral(0.016) HMMPfam_Miro,superfamily_SSF52540 C17orf66 256957 genome.wustl.edu 37 17 34185485 34185485 + Silent SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_152781.2 -1 validated p.P328 0.011 67 0% 46 43.5% 0 - - - - superfamily_ARM repeat C17orf66 256957 genome.wustl.edu 37 17 34191160 34191160 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000417195 -1 known p.C219 0.000 44 0% 44 45.5% 4 0% - - - NULL ERBB2 2064 genome.wustl.edu 37 17 37883626 37883626 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_004448.2 +1 reviewed p.G1080W 0.987 22 0% 20 55% 70 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KRTAP4-8 728224 genome.wustl.edu 37 17 39254160 39254160 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000333822 -1 known p.C59 0.861 46 0% 24 16.7% 0 - - - - HMMPfam_Keratin_B2 TUBG2 27175 genome.wustl.edu 37 17 40815441 40815441 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_016437.2 +1 validated p.D176N 1.000 118 0% 74 31.1% 23 39.1% benign(0.077) tolerated(0.49) neutral(0.016) HMMPfam_Tubulin,superfamily_Tubulin_FtsZ ITGA2B 3674 genome.wustl.edu 37 17 42458348 42458348 + Missense_Mutation SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_000419.3 -1 reviewed p.R431M 0.102 18 0% 20 45% 2 100% benign(0.346) tolerated(0.17) neutral(0.168) HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain HOXB1 3211 genome.wustl.edu 37 17 46608207 46608207 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_002144.3 -1 reviewed p.S20 1.000 35 0% 12 41.7% 0 - - - - NULL TMEM92 162461 genome.wustl.edu 37 17 48356636 48356636 + Silent SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_153229.2 +1 validated p.G149 0.000 63 0% 25 68% 1 0% - - - NULL CHAD 1101 genome.wustl.edu 37 17 48542758 48542758 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000503739 -1 known p.L36F 0.955 50 0% 17 52.9% 0 - - - - HMMPfam_LRRCT,HMMSmart_SM00082 MYCBPAP 84073 genome.wustl.edu 37 17 48600355 48600357 + In_Frame_Del DEL CCT CCT - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_032133.4 +1 validated p.S483in_frame_del 0.966:0.008:0.174 - - - - - - - - - NULL CACNA1G 8913 genome.wustl.edu 37 17 48655854 48655854 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_018896.3 +1 validated p.Y744H 1.000 46 0% 30 43.3% 0 - probably_damaging(0.998) tolerated(0.12) deleterious(0.735) superfamily_Voltage-gated potassium channels RGS9 8787 genome.wustl.edu 37 17 63159209 63159209 + Splice_Site SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003835.3 +1 reviewed e7+2 1.000 101 0% 98 45.9% 0 - - - - - ABCA8 10351 genome.wustl.edu 37 17 66877282 66877282 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_007168.2 -1 reviewed p.D1299 1.000 396 0% 274 43.4% 0 - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases EVPL 2125 genome.wustl.edu 37 17 74018551 74018551 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001988.2 -1 validated p.N183 1.000 35 0% 17 52.9% 1 0% - - - superfamily_Spectrin repeat PGS1 9489 genome.wustl.edu 37 17 76388606 76388606 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_024419.3 +1 provisional p.V65I 0.748 87 0% 59 52.5% 4 50% benign(0.001) tolerated(0.44) neutral(0.013) NULL CYTH1 9267 genome.wustl.edu 37 17 76704315 76704315 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_004762.2 -1 reviewed p.A45V 0.996 158 0% 154 42.2% 3 33.3% benign(0.01) tolerated(0.87) neutral(0.001) NULL FASN 2194 genome.wustl.edu 37 17 80037348 80037348 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_004104.4 -1 reviewed p.R2428H 0.986 22 0% 21 47.6% 180 52.2% probably_damaging(0.96) tolerated(0.13) deleterious(0.655) HMMPfam_Thioesterase,superfamily_alpha/beta-Hydrolases FN3KRP 79672 genome.wustl.edu 37 17 80684784 80684784 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_024619.3 +1 validated p.V223I 1.000 59 0% 15 46.7% 7 28.5% probably_damaging(0.978) deleterious(0.04) deleterious(0.769) superfamily_Kinase_like,HMMPfam_Fructosamin_kin METRNL 284207 genome.wustl.edu 37 17 81052135 81052135 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001004431.1 +1 provisional p.Q251* 0.507 21 0% 22 63.6% 15 0% - - - NULL CEP76 79959 genome.wustl.edu 37 18 12678360 12678360 + Silent SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_024899.2 -1 provisional p.G457 0.983 173 0% 153 19% 2 0% - - - NULL DTNA 1837 genome.wustl.edu 37 18 32457705 32457705 + Silent SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001390.4 +1 reviewed p.N615 1.000 148 0% 137 48.2% 0 - - - - NULL MBD1 4152 genome.wustl.edu 37 18 47800579 47800579 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015846.3 -1 reviewed p.R375C 1.000 13 0% 15 60% 9 11.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-CXXC ZNF532 55205 genome.wustl.edu 37 18 56586563 56586563 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_018181.4 +1 validated p.P348 0.003 64 0% 30 60% 2 0% - - - NULL SERPINB2 5055 genome.wustl.edu 37 18 61570240 61570240 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001143818.1 +1 validated p.H317Y 0.004 104 0% 89 41.6% 0 - benign(0.073) deleterious(0.01) neutral(0.411) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin CDH7 1005 genome.wustl.edu 37 18 63477235 63477235 + Splice_Site SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_004361.2 +1 reviewed e2+1 1.000 25 0% 18 27.8% 0 - - - - - AZU1 566 genome.wustl.edu 37 19 827869 827869 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001700.3 +1 reviewed p.A8V 0.080 10 0% 11 45.5% 0 - unknown(0) tolerated(1) - NULL C19orf26 255057 genome.wustl.edu 37 19 1235827 1235827 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_152769.2 -1 validated p.V60I 0.003 24 0% 27 37% 3 66.6% benign(0.002) tolerated(0.14) neutral(0.249) NULL BTBD2 55643 genome.wustl.edu 37 19 1987252 1987252 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_017797.3 -1 reviewed p.R394 1.000 90 0% 56 16.1% 58 5.1% - - - HMMPfam_PHR TIMM13 26517 genome.wustl.edu 37 19 2427447 2427447 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_012458.2 -1 reviewed p.Q29K 1.000 32 0% 20 70% 233 51.5% benign(0.334) deleterious(0.03) deleterious(0.469) HMMPfam_zf-Tim10_DDP RANBP3 8498 genome.wustl.edu 37 19 5957961 5957961 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_007322.2 -1 reviewed p.V16I 1.000 235 0% 148 50.7% 7 42.8% benign(0.227) deleterious(0) neutral(0.467) NULL KHSRP 8570 genome.wustl.edu 37 19 6420483 6420483 + Splice_Site SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003685.2 -1 validated e5-1 1.000 59 0% 35 51.4% 1 100% - - - - INSR 3643 genome.wustl.edu 37 19 7143037 7143037 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_000208.2 -1 reviewed p.A778T 0.072 23 0% 16 68.8% 1 0% benign(0) tolerated(0.57) neutral(0.006) HMMSmart_SM00060,superfamily_Fibronectin type III LRRC8E 80131 genome.wustl.edu 37 19 7963687 7963687 + Silent SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_025061.3 +1 validated p.L94 0.961 80 0% 45 15.6% 1 0% - - - NULL MUC16 94025 genome.wustl.edu 37 19 9049897 9049897 + Missense_Mutation SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_024690.2 -1 validated p.E10578D 0.000 301 0% 188 16% 0 - unknown(0) - - NULL DOCK6 57572 genome.wustl.edu 37 19 11347060 11347060 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_020812.2 -1 validated p.R785H 0.000 17 0% 18 44.4% 2 50% benign(0.001) tolerated(0.28) neutral(0.032) NULL ZNF627 199692 genome.wustl.edu 37 19 11728497 11728497 + Silent SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_145295.3 +1 validated p.C393 0.363 98 0% 62 58.1% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 MIR24-2 407013 genome.wustl.edu 37 19 13947127 13947127 + RNA SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000386972 -1 known NULL 0.035 26 0% 12 66.7% 0 - - - - - ENSG00000233422 0 genome.wustl.edu 37 19 14857188 14857190 + RNA DEL TTT TTT - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000430444 +1 known NULL 0.001:0.000:0.000 - - - - - - - - - - PGLYRP2 114770 genome.wustl.edu 37 19 15586781 15586781 + Missense_Mutation SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_052890.3 -1 validated p.G234C 0.000 25 0% 23 47.8% 0 - possibly_damaging(0.93) tolerated(0.08) deleterious(0.676) NULL CIB3 117286 genome.wustl.edu 37 19 16272290 16272290 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_054113.2 -1 reviewed p.H184N 1.000 119 0% 65 53.8% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_EF-hand GRAMD1A 57655 genome.wustl.edu 37 19 35506795 35506795 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_020895.3 +1 validated p.G379 0.008 46 0% 35 42.9% 60 41.6% - - - NULL MLL4 9757 genome.wustl.edu 37 19 36211366 36211366 + Nonsense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014727.1 +1 reviewed p.E373* 0.011 40 0% 22 45.5% 0 - - - - NULL MAP4K1 11184 genome.wustl.edu 37 19 39092105 39092105 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_007181.4 -1 validated p.A503T 0.460 54 0% 31 54.8% 1 0% probably_damaging(0.99) tolerated(0.61) neutral(0.446) HMMPfam_CNH,HMMSmart_CNH ENSG00000229113 0 genome.wustl.edu 37 19 42027683 42027683 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000439847 -1 known p.R201C 0.900 109 0% 110 52.7% 0 - - - - NULL CEACAM3 1084 genome.wustl.edu 37 19 42314041 42314041 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001815.2 +1 reviewed p.Q194R 0.004 66 0% 41 41.5% 0 - unknown(0) deleterious(0.02) - NULL ATP1A3 478 genome.wustl.edu 37 19 42486224 42486224 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_152296.3 -1 reviewed p.R343Q 0.996 98 0% 44 50% 0 - possibly_damaging(0.844) tolerated(0.15) deleterious(0.565) HMMPfam_E1-E2_ATPase,superfamily_SSF81665 IRGQ 126298 genome.wustl.edu 37 19 44097207 44097207 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001007561.2 -1 validated p.H281 0.000 30 0% 21 57.1% 1 100% - - - NULL MARK4 57787 genome.wustl.edu 37 19 45790815 45790815 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_031417.2 +1 provisional p.G463W 0.989 19 0% 12 66.7% 13 23% unknown(0) deleterious(0) - NULL CD3EAP 10849 genome.wustl.edu 37 19 45912718 45912718 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_012099.1 +1 validated p.R498W 0.002 31 0% 43 48.8% 15 6.6% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL PLA2G4C 8605 genome.wustl.edu 37 19 48556390 48556390 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003706.2 -1 reviewed p.W482R 0.002 137 0% 84 47.6% 0 - possibly_damaging(0.85) tolerated(0.2) neutral(0.376) HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase FUT1 2523 genome.wustl.edu 37 19 49253822 49253822 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_000148.3 -1 reviewed p.S239 0.000 25 0% 20 65% 0 - - - - HMMPfam_Glyco_transf_11 NLRP7 199713 genome.wustl.edu 37 19 55450565 55450565 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001127255.1 -1 reviewed p.R541Q 0.000 65 0% 49 51% 0 - benign(0) tolerated(0.42) neutral(0.014) NULL PTPRH 5794 genome.wustl.edu 37 19 55711614 55711614 + Silent SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_002842.3 -1 validated p.S470 0.000 169 0% 102 53.9% 1 0% - - - superfamily_Fibronectin type III ENSG00000197025 0 genome.wustl.edu 37 19 56888974 56888974 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000356456 +1 known p.R120M 0.980 32 0% 24 45.8% 3 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF17 7565 genome.wustl.edu 37 19 57931985 57931985 + Silent SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006959.2 +1 validated p.I375 0.114 166 0% 110 39.1% 3 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100288507 100288507 genome.wustl.edu 37 19 57956445 57956445 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 XM_002343700.1 -1 model p.T99A 0.000 143 0% 95 47.4% 1 0% - - - NULL ZNF416 55659 genome.wustl.edu 37 19 58084047 58084047 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_017879.1 -1 provisional p.P409T 0.202 150 0% 104 43.3% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF57667 ANGPT4 51378 genome.wustl.edu 37 20 853749 853749 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015985.2 -1 reviewed p.A456T 1.000 41 0% 26 61.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Fibrinogen_C,HMMSmart_FBG,PatternScan_FIBRIN_AG_C_DOMAIN,superfamily_Fibrinogen_a/b/g_C SIGLEC1 6614 genome.wustl.edu 37 20 3674174 3674174 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_023068.3 -1 reviewed p.D1143G 0.868 13 0.000 6 0.667 0 - benign(0.313) tolerated(0.07) neutral(0.416) HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin JAG1 182 genome.wustl.edu 37 20 10621506 10621506 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_000214.2 -1 reviewed p.R1042C 1.000 172 0% 143 41.3% 1 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL BPIFB4 149954 genome.wustl.edu 37 20 31671634 31671634 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_182519.2 +1 validated p.V211M 0.722 43 0% 26 38.5% 0 - probably_damaging(0.96) deleterious(0) deleterious(0.848) HMMPfam_LBP_BPI_CETP,HMMSmart_SM00328 NCOA6 23054 genome.wustl.edu 37 20 33328275 33328275 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014071.2 -1 reviewed p.A1929T 0.001 71 0% 41 46.3% 21 28.5% benign(0) tolerated(0.66) neutral(0.003) NULL ERGIC3 51614 genome.wustl.edu 37 20 34130084 34130084 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_198398.1 +1 validated p.S34N 1.000 56 0% 24 62.5% 47 46.8% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ERGIC3 51614 genome.wustl.edu 37 20 34130292 34130292 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_198398.1 +1 validated p.R64W 0.985 50 0% 42 40.5% 96 43.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RPN2 6185 genome.wustl.edu 37 20 35857117 35857117 + Silent SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000456400 +1 known p.H13N 0.656 77 0% 63 55.6% 89 46% - - - HMMPfam_Ribophorin_II L3MBTL1 26013 genome.wustl.edu 37 20 42159442 42159442 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015478.5 +1 reviewed p.Y309 1.000 37 0% 28 46.4% 0 - - - - HMMPfam_MBT,superfamily_Tudor/PWWP/MBT WFDC12 128488 genome.wustl.edu 37 20 43752868 43752868 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_080869.1 -1 reviewed p.R40C 0.000 73 0% 55 36.4% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_WAP,HMMSmart_WAP,superfamily_WAP ARFGEF2 10564 genome.wustl.edu 37 20 47621707 47621707 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006420.2 +1 reviewed p.R1178H 1.000 234 0% 149 43.6% 2 50% possibly_damaging(0.454) tolerated(0.13) neutral(0.401) HMMPfam_DUF1981,superfamily_ARM-type_fold TPD52L2 7165 genome.wustl.edu 37 20 62518951 62518951 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_199360.1 +1 validated p.A180T 0.973 58 0% 36 66.7% 0 - possibly_damaging(0.645) tolerated(0.18) neutral(0.282) HMMPfam_TPD52 PCNT 5116 genome.wustl.edu 37 21 47786729 47786729 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_006031.5 +1 reviewed p.A947V 0.495 19 0% 20 60% 1 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL CECR2 27443 genome.wustl.edu 37 22 17978493 17978493 + Missense_Mutation SNP G G T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000400573 +1 known p.G131W 1.000 143 0% 92 42.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HIRA 7290 genome.wustl.edu 37 22 19349398 19349398 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003325.3 -1 reviewed p.S611N 1.000 125 0% 81 40.7% 3 33.3% probably_damaging(0.995) tolerated(0.07) deleterious(0.776) NULL MYO18B 84700 genome.wustl.edu 37 22 26165109 26165109 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_032608.5 +1 reviewed p.R409Q 0.000 64 0% 39 48.7% 0 - benign(0) deleterious(0.03) neutral(0.364) NULL MYO18B 84700 genome.wustl.edu 37 22 26228934 26228934 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_032608.5 +1 reviewed p.T1010 0.618 121 0% 72 55.6% 0 - - - - HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases EWSR1 2130 genome.wustl.edu 37 22 29668384 29668384 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_005243.3 +1 reviewed p.T22 0.997 393 0% 325 50.2% 31 35.4% - - - NULL TCN2 6948 genome.wustl.edu 37 22 31010334 31010334 + Splice_Site SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_000355.3 +1 reviewed e4-2 0.962 42 0% 23 47.8% 0 - - - - - ELFN2 114794 genome.wustl.edu 37 22 37771567 37771567 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_052906.3 -1 validated p.R3H 1.000 31 0% 17 29.4% 0 - unknown(0) deleterious(0) - NULL CACNA1I 8911 genome.wustl.edu 37 22 40045817 40045817 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_021096.3 +1 reviewed p.R627W 0.090 17 0% 11 45.5% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) superfamily_Voltage-gated potassium channels TNRC6B 23112 genome.wustl.edu 37 22 40658007 40658007 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015088.2 +1 validated p.R96H 1.000 12 0% 13 46.2% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL TNRC6B 23112 genome.wustl.edu 37 22 40697177 40697179 + In_Frame_Del DEL GCA GCA - rs71764365 byCluster;by1000genomes TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015088.2 +1 validated p.Q1214in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL TOB2 10766 genome.wustl.edu 37 22 41832535 41832537 + In_Frame_Del DEL AAG AAG - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_016272.3 -1 validated p.F272in_frame_del 0.994:1.000:1.000 - - - - - - - - - NULL TCF20 6942 genome.wustl.edu 37 22 42610373 42610373 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_005650.1 -1 reviewed p.Q313 1.000 58 0% 65 55.4% 0 - - - - NULL PACSIN2 11252 genome.wustl.edu 37 22 43278237 43278237 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_007229.3 -1 reviewed p.R287* 0.998 66 0% 42 42.9% 3 0% - - - NULL SHOX 6473 genome.wustl.edu 37 X 591832 591832 + Missense_Mutation SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_000451.3 +1 reviewed p.P67Q 1.000 86 0% 51 47.1% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL ZBED1 9189 genome.wustl.edu 37 X 2407462 2407462 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_004729.3 -1 reviewed p.T433 0.814 89 0% 56 55.4% 6 66.6% - - - NULL VCX2 51480 genome.wustl.edu 37 X 8138093 8138093 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_016378.2 -1 reviewed p.V134I 0.000 118 0% 61 41% 0 - unknown(0) tolerated(0.07) - NULL DCAF8L2 347442 genome.wustl.edu 37 X 27766900 27766900 + Missense_Mutation SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001136533.1 +1 provisional p.P630T 0.917 23 0% 15 33.3% 0 - - - - NULL DCAF8L1 139425 genome.wustl.edu 37 X 27998727 27998727 + Missense_Mutation SNP A A C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001017930.1 -1 reviewed p.V242G 1.000 44 0% 38 15.8% 0 - benign(0.081) deleterious(0) neutral(0.451) HMMSmart_WD40,superfamily_WD40_like ZNF674 641339 genome.wustl.edu 37 X 46359381 46359381 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001039891.2 -1 validated p.T548I 1.000 341 0% 278 45.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_SSF57667 WDR45 11152 genome.wustl.edu 37 X 48933229 48933229 + Missense_Mutation SNP C C G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_007075.3 -1 reviewed p.G235R 1.000 57 0% 49 59.2% 116 93.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_WD40,superfamily_WD40_like GPKOW 27238 genome.wustl.edu 37 X 48979897 48979897 + Missense_Mutation SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_015698.4 -1 validated p.S59I 1.000 42 0% 18 38.9% 1 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL SYP 6855 genome.wustl.edu 37 X 49049896 49049896 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003179.2 -1 reviewed p.A150T 0.899 67 0% 53 45.3% 0 - benign(0.017) tolerated(0.73) neutral(0.002) HMMPfam_MARVEL WNK3 65267 genome.wustl.edu 37 X 54337624 54337624 + Missense_Mutation SNP C C A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_020922.4 -1 reviewed p.W213L 1.000 352 0% 231 46.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase APEX2 27301 genome.wustl.edu 37 X 55028000 55028000 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014481.2 +1 reviewed p.L60P 0.968 86 0% 49 46.9% 3 100% probably_damaging(0.991) deleterious(0.05) deleterious(0.789) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos PJA1 64219 genome.wustl.edu 37 X 68382140 68382140 + Silent SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_145119.3 -1 reviewed p.S314 0.003 60 0% 45 42.2% 3 66.6% - - - NULL TAF1 6872 genome.wustl.edu 37 X 70608189 70608189 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_004606.3 +1 reviewed p.R864W 1.000 90 0% 51 41.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PABPC5 140886 genome.wustl.edu 37 X 90691667 90691667 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_080832.2 +1 reviewed p.R364H 0.992 30 0% 33 48.5% 1 0% possibly_damaging(0.5) deleterious(0.02) deleterious(0.550) HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD LRCH2 57631 genome.wustl.edu 37 X 114468376 114468376 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_020871.3 -1 validated p.V77M 0.685 32 0% 25 40% 0 - possibly_damaging(0.852) tolerated(0.1) deleterious(0.614) superfamily_SSF52058 NKRF 55922 genome.wustl.edu 37 X 118723850 118723850 + Missense_Mutation SNP T T G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_017544.3 -1 reviewed p.K513T 1.000 159 0% 136 47.1% 1 100% possibly_damaging(0.923) tolerated(0.19) neutral(0.422) superfamily_dsRNA-binding domain-like ODZ1 10178 genome.wustl.edu 37 X 124029856 124029856 + Missense_Mutation SNP T T C novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_014253.3 -1 reviewed p.H151R 1.000 239 0% 187 42.2% 0 - possibly_damaging(0.795) deleterious(0.01) deleterious(0.704) HMMPfam_Ten_N XPNPEP2 7512 genome.wustl.edu 37 X 128884476 128884476 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003399.5 +1 reviewed p.R224* 0.989 67 0% 53 60.4% 0 - - - - NULL MBNL3 55796 genome.wustl.edu 37 X 131540344 131540344 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_018388.3 -1 reviewed p.R85Q 0.786 172 0% 97 50.5% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL FAM122C 159091 genome.wustl.edu 37 X 133988177 133988177 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 ENST00000370784 +1 known p.R167C 0.018 271 0% 189 50.8% 2 0% benign(0.119) deleterious(0) neutral(0.454) NULL BRS3 680 genome.wustl.edu 37 X 135574248 135574248 + Missense_Mutation SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001727.1 +1 validated p.S305F 0.998 326 0% 176 44.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_SSF81321 RBMX 27316 genome.wustl.edu 37 X 135961586 135961588 + In_Frame_Del DEL TGT TGT - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_002139.3 -1 reviewed p.MVEA1in_frame_delWLK 1.000 - - - - - - - - - NULL ZIC3 7547 genome.wustl.edu 37 X 136651134 136651134 + Silent SNP C C T novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_003413.3 +1 reviewed p.H378 1.000 79 0% 43 41.9% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ATP11C 286410 genome.wustl.edu 37 X 138871620 138871621 + Frame_Shift_Del DEL CA CA - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_173694.4 -1 validated p.G415fs 1.000:0.973 - - - - - - - - - PatternScan_ATPASE_E1_E2,superfamily_HAD-like PLXNB3 5365 genome.wustl.edu 37 X 153037425 153037425 + Missense_Mutation SNP G G A novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_005393.2 +1 reviewed p.S875N 0.875 24 0.000 9 0.667 0 - benign(0.007) tolerated(0.12) neutral(0.261) HMMPfam_TIG,HMMSmart_IPT,superfamily_Ig_E-set OPN1LW 5956 genome.wustl.edu 37 X 153416295 153416295 + Missense_Mutation SNP A A G novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_020061.4 +1 reviewed p.N94D 1.000 106 0% 59 35.6% 0 - possibly_damaging(0.944) deleterious(0.01) deleterious(0.794) HMMPfam_7tm_1,superfamily_SSF81321 ATP6AP1 537 genome.wustl.edu 37 X 153663795 153663797 + In_Frame_Del DEL CTC CTC - novel TCGA-AP-A0LE-01A-11D-A127-09 TCGA-AP-A0LE-10A-01D-A10B-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 638e80c7-9a6e-4a32-a621-fc4168e72343 e37d65e5-ff01-4a16-a3ec-a2331fc26943 NM_001183.4 +1 reviewed p.L384in_frame_del 0.975:0.998:1.000 - - - - - - - - - HMMPfam_ATP-synt_S1