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 MIB2 142678 genome.wustl.edu 37 1 1563171 1563171 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_080875.2 +1 validated p.R606W 0.658 21 0% 20 45% 57 42.1% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat RPL22 6146 broad.mit.edu 37 1 6246852 6246852 + Frame_Shift_Del DEL T - - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_000983.3 -1 reviewed p.K89fs 0.998 - - - - - - - - - HMMPfam_Ribosomal_L22e RPL22 6146 ucsc.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T - - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_000983.3 -1 reviewed p.K15fs 1 - - - - - - - - - HMMPfam_Ribosomal_L22e H6PD 9563 genome.wustl.edu 37 1 9324075 9324075 + Missense_Mutation SNP G G A rs184842419 by1000genomes TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004285.3 +1 reviewed p.G508D 0.344 59 1.7% 62 41.9% 4 50% benign(0.019) tolerated(0.43) neutral(0.014) superfamily_SSF55347 KIF1B 23095 genome.wustl.edu 37 1 10421064 10421064 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015074.3 +1 reviewed p.G1332V 1.000 205 0% 167 41.3% 11 72.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL UBIAD1 29914 genome.wustl.edu 37 1 11333899 11333899 + Missense_Mutation SNP A A C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_013319.2 +1 reviewed p.Y104S 1.000 149 0% 93 36.6% 21 47.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_UbiA MTHFR 4524 genome.wustl.edu 37 1 11861221 11861221 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005957.4 -1 reviewed p.G158* 1.000 67 0% 48 33.3% 5 0% - - - HMMPfam_MTHFR,superfamily_FAD-linked oxidoreductase PRAMEF7 441871 genome.wustl.edu 37 1 12978570 12978570 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001012277.1 +1 provisional p.L226M 0.883 365 0.3% 280 23.9% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_RNI-like PRDM2 7799 genome.wustl.edu 37 1 14068616 14068616 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_012231.4 +1 reviewed p.L116 1.000 106 0% 75 22.7% 3 0% - - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain SPEN 23013 genome.wustl.edu 37 1 16202925 16202925 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015001.2 +1 reviewed p.L211 1.000 76 0% 73 47.9% 2 50% - - - NULL SDHB 6390 genome.wustl.edu 37 1 17371358 17371358 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003000.2 -1 reviewed p.A33V 1.000 197 0% 145 42.1% 75 44% benign(0.002) tolerated(0.08) neutral(0.300) NULL UBR4 23352 genome.wustl.edu 37 1 19490859 19490859 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_020765.2 -1 validated p.D1530N 1.000 92 0% 63 14.3% 7 14.2% possibly_damaging(0.456) tolerated(0.18) neutral(0.205) superfamily_ARM repeat VWA5B1 127731 genome.wustl.edu 37 1 20680567 20680567 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001039500.2 +1 validated p.S1153 0.009 57 0% 43 41.9% 0 - - - - NULL ECE1 1889 genome.wustl.edu 37 1 21563258 21563258 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001397.2 -1 reviewed p.R490Q 1.000 222 0% 201 40.8% 130 40.7% probably_damaging(0.997) deleterious(0) deleterious(0.911) "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" EPHA8 2046 genome.wustl.edu 37 1 22927919 22927919 + Silent SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_020526.3 +1 reviewed p.A952 0.116 33 0% 29 37.9% 0 - - - - HMMPfam_SAM_1,HMMSmart_SAM,superfamily_SAM_homology FUCA1 2517 genome.wustl.edu 37 1 24172286 24172286 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_000147.4 -1 reviewed p.L440 0.004 122 0% 107 29.9% 47 23.4% - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27101598 27101611 + Frame_Shift_Del DEL CTGCCCCTGTGCAG CTGCCCCTGTGCAG - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 CTGCCCCTGTGCAG CTGCCCCTGTGCAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006015.4 +1 reviewed p.A1628fs 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 - - - - - - - - - NULL NUDC 10726 genome.wustl.edu 37 1 27271923 27271923 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006600.2 +1 provisional p.P262S 1.000 64 0% 41 48.8% 379 42.4% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SMPDL3B 27293 genome.wustl.edu 37 1 28284995 28284995 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014474.2 +1 validated p.V338 1.000 46 0% 30 43.3% 45 53.3% - - - NULL PEF1 553115 genome.wustl.edu 37 1 32098793 32098793 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_012392.3 -1 reviewed p.S150P 0.594 91 0% 65 44.6% 107 47.6% benign(0.02) tolerated(0.72) neutral(0.003) superfamily_SSF47473 EIF3I 8668 genome.wustl.edu 37 1 32691819 32691819 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003757.2 +1 validated p.G100S 1.000 136 0% 110 38.2% 470 46.1% benign(0.002) tolerated(0.56) neutral(0.006) superfamily_WD40 repeat-like TMEM54 113452 genome.wustl.edu 37 1 33361166 33361166 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_033504.2 -1 provisional p.T150I 0.999 96 0% 69 23.2% 93 20.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CSMD2 114784 genome.wustl.edu 37 1 34128538 34128538 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_052896.3 -1 validated p.S1363G 1.000 57 0% 25 40% 0 - benign(0.023) tolerated(0.16) neutral(0.060) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD2 114784 genome.wustl.edu 37 1 34209071 34209071 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_052896.3 -1 validated p.N621 0.518 90 0% 62 35.5% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain THRAP3 9967 genome.wustl.edu 37 1 36762298 36762298 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005119.3 +1 validated p.R744* 1.000 158 0% 117 44.4% 69 5.7% - - - NULL TIE1 7075 genome.wustl.edu 37 1 43772843 43772843 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005424.2 +1 provisional p.C224Y 1.000 49 0% 37 35.1% 9 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_EGF SZT2 23334 genome.wustl.edu 37 1 43900122 43900122 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015284.2 +1 predicted p.R1058M 1.000 54 0% 34 23.5% 7 42.8% probably_damaging(0.992) tolerated(0.11) deleterious(0.719) NULL CCDC24 149473 genome.wustl.edu 37 1 44459607 44459607 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_152499.1 +1 provisional p.S156 0.101 105 0% 72 37.5% 31 25.8% - - - NULL CCDC24 149473 genome.wustl.edu 37 1 44461479 44461479 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_152499.1 +1 provisional p.Q218* 0.999 121 0% 56 46.4% 30 33.3% - - - NULL LRRC41 10489 genome.wustl.edu 37 1 46744469 46744469 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000254454 -1 known p.Q813* 1.000 36 0% 19 47.4% 266 45.1% - - - NULL LRRC41 10489 genome.wustl.edu 37 1 46768841 46768841 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006369.4 -1 validated p.R52W 0.997 22 0% 25 48% 26 26.9% benign(0.007) deleterious(0) neutral(0.445) NULL ORC1 4998 genome.wustl.edu 37 1 52851576 52851576 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004153.2 -1 reviewed p.R477* 0.997 73 0% 43 30.2% 3 0% - - - NULL FAM151A 338094 genome.wustl.edu 37 1 55077377 55077377 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_176782.2 -1 validated p.S281L 0.004 89 0% 66 34.8% 0 - benign(0) tolerated(0.13) neutral(0.253) HMMPfam_DUF2181 WDR78 79819 genome.wustl.edu 37 1 67390376 67390376 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_024763.4 -1 validated p.A47T 0.001 139 0% 146 42.5% 3 0% possibly_damaging(0.753) tolerated(0.1) deleterious(0.563) NULL WLS 79971 genome.wustl.edu 37 1 68610280 68610280 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001002292.2 -1 validated p.M443T 1.000 102 0% 60 46.7% 294 36.7% benign(0.005) tolerated(0.07) neutral(0.319) NULL SRSF11 9295 genome.wustl.edu 37 1 70716482 70716482 + Silent SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004768.2 +1 reviewed p.S483 1.000 57 0% 50 46% 92 42.3% - - - NULL TNNI3K 51086 genome.wustl.edu 37 1 74716397 74716397 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001112808.1 +1 validated p.R194S 1.000 194 0% 199 41.7% 1 100% probably_damaging(0.999) tolerated(0.29) deleterious(0.519) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat NEXN 91624 genome.wustl.edu 37 1 78408498 78408498 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_144573.3 +1 reviewed p.I671T 1.000 145 0% 125 43.2% 4 0% probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin CSF1 1435 genome.wustl.edu 37 1 110466017 110466017 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_000757.4 +1 validated p.C258 0.998 68 0% 62 46.8% 3 0% - - - HMMPfam_CSF-1 WNT2B 7482 genome.wustl.edu 37 1 113059841 113059841 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_024494.2 +1 reviewed p.R260 1.000 74 1.4% 41 46.3% 1 100% - - - HMMPfam_wnt,HMMSmart_SM00097 MAGI3 260425 genome.wustl.edu 37 1 113933670 113933672 + In_Frame_Del DEL GAA GAA - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001142782.1 +1 validated p.K9in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_PDZ PHGDH 26227 genome.wustl.edu 37 1 120279801 120279801 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006623.3 +1 reviewed p.A286V 1.000 90 0% 92 35.9% 203 53.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_2-Hacid_dh,superfamily_NAD(P)-binding Rossmann-fold domains ANKRD35 148741 genome.wustl.edu 37 1 145558937 145558937 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_144698.3 +1 validated p.D186N 1.000 49 0% 39 41% 16 62.5% probably_damaging(0.979) tolerated(0.93) neutral(0.422) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK S100A12 6283 genome.wustl.edu 37 1 153346945 153346945 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005621.1 -1 reviewed p.A42T 0.000 169 0% 100 45% 0 - benign(0.003) tolerated(0.44) neutral(0.013) HMMPfam_S_100,superfamily_SSF47473 CRTC2 200186 genome.wustl.edu 37 1 153920692 153920692 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_181715.1 -1 provisional p.R659C 0.963 145 0% 120 40% 62 38.7% benign(0.001) deleterious(0) neutral(0.445) NULL TDRD10 126668 genome.wustl.edu 37 1 154480959 154480959 + Splice_Site SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001098475.1 +1 validated e3+2 0.956 392 0.5% 383 40.2% 0 - - - - - KCNN3 3782 genome.wustl.edu 37 1 154832171 154832171 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_170782.1 -1 reviewed p.K6N 0.001 160 0% 118 52.5% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_SK_channel BCAN 63827 genome.wustl.edu 37 1 156616845 156616845 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_021948.3 +1 validated p.A115V 0.449 16 0% 15 46.7% 1 0% possibly_damaging(0.808) tolerated(0.1) deleterious(0.591) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin OR10J3 441911 genome.wustl.edu 37 1 159283832 159283832 + Silent SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001004467.1 -1 provisional p.C206 0.011 137 0% 109 45.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 ATP1A2 477 genome.wustl.edu 37 1 160099121 160099121 + Silent SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000447527 +1 known p.Q175R 0.774 108 0% 84 46.4% 3 33.3% - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M HSPA6 3310 genome.wustl.edu 37 1 161495096 161495096 + Silent SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002155.3 +1 validated p.A216 0.212 98 0% 85 22.4% 4 0% - - - HMMPfam_HSP70,superfamily_Actin-like ATPase domain KLHL20 27252 genome.wustl.edu 37 1 173726140 173726140 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014458.3 +1 reviewed p.A331 0.999 232 0% 174 48.9% 9 33.3% - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain TMCC2 9911 genome.wustl.edu 37 1 205241129 205241129 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014858.3 +1 validated p.T669 0.988 142 0% 113 19.5% 5 0% - - - HMMPfam_Tmemb_cc2 SLC26A9 115019 genome.wustl.edu 37 1 205892557 205892557 + Splice_Site SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_134325.2 -1 reviewed e14-2 1.000 308 0.3% 285 41.1% 0 - - - - - ANGEL2 90806 genome.wustl.edu 37 1 213180442 213180444 + In_Frame_Del DEL AAA AAA - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000310246 -1 known p.F226in_frame_del 0.007:0.006:0.011 - - - - - - - - - HMMPfam_Exo_endo_phos ENAH 55740 genome.wustl.edu 37 1 225742649 225742649 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001008493.1 -1 validated p.A103V 1.000 236 0.4% 151 38.4% 93 48.3% unknown(0) tolerated(0.07) - HMMPfam_WH1,HMMSmart_SM00461,superfamily_PH domain-like TTC13 79573 genome.wustl.edu 37 1 231076227 231076227 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_024525.4 -1 validated p.R250W 1.000 163 0% 96 35.4% 6 16.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like GNPAT 8443 genome.wustl.edu 37 1 231401164 231401164 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014236.3 +1 reviewed p.R232W 0.994 251 0% 178 45.5% 28 50% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Acyltransferase,HMMSmart_PlsC,superfamily_SSF69593 EGLN1 54583 genome.wustl.edu 37 1 231557114 231557114 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_022051.2 -1 reviewed p.S174N 0.423 17 0% 14 35.7% 34 38.2% benign(0.236) tolerated(0.39) neutral(0.040) NULL PCNXL2 80003 genome.wustl.edu 37 1 233120134 233120134 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000429988 -1 known p.R911W 0.000 57 0% 36 36.1% 8 50% - - - NULL KIF26B 55083 genome.wustl.edu 37 1 245766038 245766038 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018012.3 +1 provisional p.P504T 1.000 168 0% 125 44% 9 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases OR2T3 343173 genome.wustl.edu 37 1 248637030 248637030 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001005495.1 +1 provisional p.R127* 1.000 321 0% 241 37.3% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 COLEC11 78989 genome.wustl.edu 37 2 3673612 3673612 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_199235.1 +1 validated p.Q41H 0.003 137 0% 107 33.6% 0 - benign(0.009) - - NULL ADAM17 6868 genome.wustl.edu 37 2 9633093 9633093 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003183.4 -1 reviewed p.I672 0.654 141 0% 121 14% 24 8.3% - - - NULL RAD51AP2 729475 genome.wustl.edu 37 2 17698727 17698727 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001099218.2 -1 provisional p.A319V 0.000 217 0.5% 213 46.5% 0 - benign(0.01) tolerated(0.62) neutral(0.005) NULL ITSN2 50618 genome.wustl.edu 37 2 24477257 24477257 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006277.2 -1 reviewed p.A978T 0.000 174 0% 173 43.4% 9 88.8% benign(0.005) tolerated(0.62) neutral(0.004) superfamily_SH3-domain AGBL5 60509 genome.wustl.edu 37 2 27282252 27282252 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_021831.5 +1 validated p.R690L 1.000 55 0% 54 42.6% 31 48.3% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL FAM179A 165186 genome.wustl.edu 37 2 29237283 29237283 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_199280.2 +1 validated p.P300 0.000 99 0% 79 48.1% 0 - - - - NULL C2orf71 388939 genome.wustl.edu 37 2 29293523 29293523 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001029883.1 -1 provisional p.R1202Q 0.000 81 1.2% 63 49.2% 0 - unknown(0) tolerated(0.09) - NULL EIF2AK2 5610 genome.wustl.edu 37 2 37336400 37336400 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001135651.1 -1 validated p.Y472 0.747 114 0% 99 34.3% 14 42.8% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NRXN1 9378 genome.wustl.edu 37 2 50765655 50765655 + Missense_Mutation SNP A A C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001135659.1 -1 reviewed p.F667V 1.000 200 0% 126 45.2% 0 - probably_damaging(0.997) tolerated(0.16) deleterious(0.526) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 SPTBN1 6711 genome.wustl.edu 37 2 54882220 54882220 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003128.2 +1 reviewed p.V1946I 1.000 138 0% 100 39% 92 32.6% possibly_damaging(0.589) deleterious(0.01) deleterious(0.609) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat CEP68 23177 genome.wustl.edu 37 2 65299164 65299164 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015147.2 +1 validated p.G312R 0.001 56 0% 51 47.1% 7 57.1% benign(0.006) tolerated(0.06) neutral(0.323) NULL PROKR1 10887 genome.wustl.edu 37 2 68882462 68882462 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_138964.2 +1 validated p.T312 0.001 136 0% 110 47.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 DYSF 8291 genome.wustl.edu 37 2 71891424 71891424 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001130987.1 +1 reviewed p.P1677H 1.000 66 0% 43 30.2% 14 21.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB INO80B 83444 genome.wustl.edu 37 2 74682268 74682268 + Missense_Mutation SNP A A T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_031288.2 +1 validated p.S9C 0.995 107 0% 76 36.8% 7 57.1% possibly_damaging(0.496) deleterious(0) deleterious(0.610) NULL TCF7L1 83439 genome.wustl.edu 37 2 85361149 85361149 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_031283.1 +1 provisional p.R87H 1.000 47 0% 31 38.7% 66 51.5% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMPfam_CTNNB1_binding RNF103 7844 genome.wustl.edu 37 2 86831641 86831641 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005667.2 -1 reviewed p.W461* 1.000 163 0% 144 39.6% 15 40% - - - NULL FER1L5 90342 genome.wustl.edu 37 2 97355493 97355493 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001113382.1 +1 provisional p.V875M 0.058 34 0% 26 38.5% 0 - benign(0.002) deleterious(0.02) neutral(0.383) HMMSmart_SM00693 C2orf55 343990 genome.wustl.edu 37 2 99454586 99454586 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_207362.2 -1 validated p.L79 0.731 200 0% 185 42.7% 1 0% - - - NULL TBC1D8 11138 genome.wustl.edu 37 2 101624532 101624532 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001102426.1 -1 validated p.S1058 0.000 70 0% 59 49.2% 18 44.4% - - - NULL IL36A 27179 genome.wustl.edu 37 2 113764197 113764197 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014440.1 +1 provisional p.C49 0.185 256 0.4% 175 42.9% 0 - - - - HMMSmart_IL1,superfamily_Cytok_IL1_like FOXD4L1 200350 genome.wustl.edu 37 2 114258024 114258024 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_012184.4 +1 reviewed p.G397 1.000 44 0% 39 74.4% 1 0% - - - NULL INHBB 3625 genome.wustl.edu 37 2 121107386 121107386 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002193.2 +1 reviewed p.D387G 1.000 23 0% 20 40% 1 0% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_TGF_beta,HMMSmart_SM00204,superfamily_Cystine-knot cytokines CCDC74B 91409 genome.wustl.edu 37 2 130900593 130900593 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000409234 -1 known p.G182C 0.000 29 0% 25 44% 0 - probably_damaging(0.998) - - NULL LOC653781 653781 genome.wustl.edu 37 2 131414840 131414840 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea XM_929706.3 +1 model p.H836R 1.000 103 0% 83 21.7% 0 - possibly_damaging(0.902) deleterious(0) deleterious(0.801) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain MCM6 4175 genome.wustl.edu 37 2 136616965 136616965 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005915.4 -1 reviewed p.A423V 1.000 142 0% 112 31.2% 37 18.9% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_MCM,HMMSmart_SM00350,superfamily_P-loop containing nucleoside triphosphate hydrolases NR4A2 4929 genome.wustl.edu 37 2 157184975 157184975 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006186.3 -1 reviewed p.R312Q 1.000 174 0% 121 22.3% 11 9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain) TANK 10010 genome.wustl.edu 37 2 162087942 162087942 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004180.2 +1 reviewed p.A327 0.000 72 0% 76 40.8% 79 40.5% - - - NULL LRP2 4036 genome.wustl.edu 37 2 170025122 170025122 + Silent SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004525.2 -1 reviewed p.C3854 0.574 211 0% 142 46.5% 0 - benign(0.008) - - HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich UBE2E3 10477 genome.wustl.edu 37 2 181927519 181927519 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000410062 +1 known p.G176R 1.000 102 0% 61 50.8% 205 39% - - - HMMSmart_UBCc,superfamily_UBQ-conjugat/RWD-like CERKL 375298 genome.wustl.edu 37 2 182409425 182409425 + Splice_Site SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001030311.2 -1 reviewed e12+2 1.000 168 0% 186 43% 0 - - - - - CERKL 375298 genome.wustl.edu 37 2 182438596 182438596 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001030311.2 -1 reviewed p.P166L 1.000 153 0% 138 15.9% 0 - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL STAT1 6772 genome.wustl.edu 37 2 191845387 191845387 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_007315.3 -1 reviewed p.A531T 0.034 139 0% 110 40.9% 57 12.2% benign(0.001) tolerated(0.15) neutral(0.241) superfamily_p53-like transcription factors,HMMPfam_STAT_bind RFTN2 130132 genome.wustl.edu 37 2 198498595 198498595 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_144629.2 -1 validated p.G189S 0.000 327 0.3% 229 38.4% 3 33.3% benign(0) tolerated(1) - NULL CASP8 841 genome.wustl.edu 37 2 202149996 202149996 + Missense_Mutation SNP G G C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001080125.1 +1 reviewed p.W479C 1.000 81 0% 53 13.2% 27 11.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like FZD7 8324 genome.wustl.edu 37 2 202899385 202899385 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003507.1 +1 reviewed p.G5 0.968 18 0% 16 43.8% 1 0% - - - NULL PARD3B 117583 genome.wustl.edu 37 2 206305230 206305230 + Silent SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_152526.4 +1 validated p.R898 1.000 167 0% 116 12.9% 6 0% - - - NULL NRP2 8828 genome.wustl.edu 37 2 206562374 206562374 + Silent SNP C C T rs183290527 by1000genomes TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_201266.1 +1 reviewed p.Y60 0.105 165 0% 157 40.8% 17 41.1% - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain EEF1B2 1933 genome.wustl.edu 37 2 207025367 207025367 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001037663.1 +1 reviewed p.P46S 0.992 171 0% 164 42.1% 645 36.4% benign(0.001) tolerated(0.9) - superfamily_Glutathione S-transferase (GST) C-terminal domain CRYGB 1419 genome.wustl.edu 37 2 209007468 209007468 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005210.3 -1 validated p.R141M 0.993 97 0% 72 40.3% 0 - possibly_damaging(0.659) deleterious(0.01) deleterious(0.638) HMMPfam_Crystall,HMMSmart_SM00247,superfamily_gamma-Crystallin-like IHH 3549 genome.wustl.edu 37 2 219920273 219920273 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002181.3 -1 reviewed p.V298M 1.000 38 0% 17 52.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Hint,HMMSmart_SM00306,superfamily_Hedgehog/intein (Hint) domain SP140L 93349 genome.wustl.edu 37 2 231226362 231226362 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_138402.4 +1 provisional p.D158G 0.000 273 0% 261 43.7% 7 42.8% possibly_damaging(0.778) tolerated(0.33) neutral(0.315) NULL CHRNG 1146 genome.wustl.edu 37 2 233404490 233404490 + Silent SNP G G C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005199.4 +1 reviewed p.L11 0.282 57 0% 41 48.8% 2 0% - - - NULL NGEF 25791 genome.wustl.edu 37 2 233785079 233785079 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_019850.2 -1 validated p.R248M 0.996 89 0% 92 35.9% 2 0% possibly_damaging(0.848) deleterious(0.01) deleterious(0.731) NULL INPP5D 3635 genome.wustl.edu 37 2 234073032 234073032 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000359570 +1 known p.C506Y 1.000 63 0% 45 46.7% 6 0% benign(0.338) tolerated(0.61) neutral(0.111) HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like USP40 55230 genome.wustl.edu 37 2 234436070 234436070 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018218.2 -1 validated p.R581W 0.539 140 0% 129 30.2% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ANKMY1 51281 genome.wustl.edu 37 2 241468537 241468537 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000443318 -1 known p.V146I 0.000 272 0% 227 27.3% 0 - - - - NULL SRGAP3 9901 genome.wustl.edu 37 3 9166505 9166505 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000433332 -1 known p.G61* 1.000 103 0% 63 38.1% 4 50% probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL BRPF1 7862 genome.wustl.edu 37 3 9781274 9781274 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001003694.1 +1 reviewed p.C397 1.000 55 1.8% 38 36.8% 17 41.1% - - - HMMSmart_PHD SLC6A1 6529 genome.wustl.edu 37 3 11075367 11075367 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003042.3 +1 validated p.S490F 1.000 183 0% 172 47.7% 0 - benign(0.005) tolerated(0.13) neutral(0.253) HMMPfam_SNF EAF1 85403 genome.wustl.edu 37 3 15473731 15473731 + Splice_Site SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_033083.6 +1 validated e3+1 1.000 115 0% 93 47.3% 0 - - - - - COLQ 8292 genome.wustl.edu 37 3 15518671 15518671 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005677.3 -1 reviewed p.P143S 1.000 78 0% 62 38.7% 0 - unknown(0) - - HMMPfam_Collagen BTD 686 genome.wustl.edu 37 3 15686644 15686644 + Silent SNP T T G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_000060.2 +1 reviewed p.L427 0.078 167 0% 140 48.6% 10 50% - - - NULL GALNTL2 117248 genome.wustl.edu 37 3 16260917 16260917 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_054110.4 +1 validated p.K467R 0.904 104 0% 92 20.7% 1 0% benign(0.002) tolerated(0.36) neutral(0.020) superfamily_SSF53448 XIRP1 165904 genome.wustl.edu 37 3 39228612 39228612 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_194293.2 -1 provisional p.L775 0.659 84 0% 59 40.7% 1 0% - - - NULL KBTBD5 131377 genome.wustl.edu 37 3 42730434 42730434 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_152393.2 +1 validated p.A499T 1.000 79 0% 63 38.1% 0 - possibly_damaging(0.594) tolerated(0.1) deleterious(0.491) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain FBXW12 285231 genome.wustl.edu 37 3 48414323 48414323 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_207102.2 +1 validated p.L22 0.566 216 0.9% 171 44.4% 0 - - - - HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF81383 CELSR3 1951 genome.wustl.edu 37 3 48698223 48698224 + Frame_Shift_Del DEL CT CT - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001407.2 -1 reviewed p.E615fs 1.000:1.000 - - - - - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like SEMA3B 7869 genome.wustl.edu 37 3 50314031 50314031 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004636.2 +1 reviewed p.R715C 0.000 13 0.000 7 0.571 25 48% unknown(0) - - NULL ZMYND10 51364 genome.wustl.edu 37 3 50380589 50380589 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015896.2 -1 validated p.A187T 0.998 243 0% 257 44.7% 3 66.6% benign(0.119) tolerated(0.14) neutral(0.259) NULL GRM2 2912 genome.wustl.edu 37 3 51746671 51746671 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_000839.3 +1 reviewed p.A211 0.647 188 0% 123 45.5% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I STAB1 23166 genome.wustl.edu 37 3 52546387 52546387 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015136.2 +1 reviewed p.R972W 0.893 107 0% 120 41.7% 2 0% probably_damaging(1) tolerated(0.12) deleterious(0.760) superfamily_FAS1 domain,HMMSmart_SM00181 STAB1 23166 genome.wustl.edu 37 3 52548230 52548230 + Splice_Site SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015136.2 +1 reviewed e33+1 1.000 62 0% 46 52.2% 0 - - - - - STAB1 23166 genome.wustl.edu 37 3 52554927 52554927 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015136.2 +1 reviewed p.R1938 0.000 36 0% 38 52.6% 10 0% - - - NULL GLT8D1 55830 genome.wustl.edu 37 3 52729267 52729267 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001010983.1 -1 reviewed p.L288 0.998 323 0% 289 48.1% 96 40.6% - - - HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases LRTM1 57408 genome.wustl.edu 37 3 54952687 54952687 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_020678.2 -1 provisional p.P279 0.000 138 0% 94 31.9% 0 - - - - NULL KBTBD8 84541 genome.wustl.edu 37 3 67058507 67058507 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_032505.2 +1 validated p.Y476H 1.000 119 0% 108 38% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain MIR1284 100302112 genome.wustl.edu 37 3 71591189 71591189 + RNA SNP A A C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000408337 -1 known NULL 1.000 66 0% 56 50% 0 - - - - - EPHA3 2042 genome.wustl.edu 37 3 89480412 89480412 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005233.5 +1 reviewed p.R750Q 1.000 206 0% 151 37.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like) ILDR1 286676 genome.wustl.edu 37 3 121712606 121712606 + Silent SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_175924.2 -1 provisional p.I286 1.000 148 0% 126 45.2% 9 66.6% - - - NULL SLC41A3 54946 genome.wustl.edu 37 3 125731562 125731562 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001008485.1 -1 validated p.T334I 1.000 111 0% 77 41.6% 62 37% possibly_damaging(0.856) deleterious(0) deleterious(0.775) NULL TXNRD3NB 645840 genome.wustl.edu 37 3 126291106 126291106 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001039783.1 -1 provisional p.P94L 0.000 201 0% 190 37.9% 0 - unknown(0) - - NULL PIK3R4 30849 genome.wustl.edu 37 3 130442277 130442277 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014602.2 -1 validated p.Y654 0.692 205 0% 133 45.1% 11 45.4% - - - superfamily_ARM-type_fold AMOTL2 51421 genome.wustl.edu 37 3 134090120 134090120 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_016201.2 -1 reviewed p.Q52H 0.817 47 0% 34 52.9% 35 40% possibly_damaging(0.74) tolerated(0.4) neutral(0.287) NULL ZIC1 7545 genome.wustl.edu 37 3 147128732 147128732 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003412.3 +1 reviewed p.R278H 1.000 120 0% 82 37.8% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_ZnF_C2H2 SLITRK3 22865 genome.wustl.edu 37 3 164906563 164906563 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014926.2 -1 validated p.L686M 1.000 76 1.3% 53 43.4% 0 - probably_damaging(0.953) tolerated(0.07) deleterious(0.716) NULL PIK3CA 5290 genome.wustl.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A rs121913287 TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006218.2 +1 reviewed p.R88Q 1.000 93 0% 74 35.1% 1 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B DVL3 1857 genome.wustl.edu 37 3 183883261 183883261 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004423.3 +1 reviewed p.T249A 1.000 133 0% 129 20.9% 96 19.7% possibly_damaging(0.554) deleterious(0.02) deleterious(0.572) HMMPfam_PDZ,superfamily_PDZ POLR2H 5437 genome.wustl.edu 37 3 184084504 184084504 + Splice_Site SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006232.2 +1 reviewed e4-1 1.000 133 0% 99 31.3% 3 0% - - - - LSG1 55341 genome.wustl.edu 37 3 194386287 194386287 + Missense_Mutation SNP T T G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018385.2 -1 reviewed p.S174R 1.000 179 0% 155 43.2% 13 53.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 MUC4 4585 genome.wustl.edu 37 3 195516936 195516936 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018406.5 -1 reviewed p.L505 0.000 290 0% 253 33.2% 0 - - - - NULL PIGZ 80235 genome.wustl.edu 37 3 196675508 196675508 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_025163.2 -1 reviewed p.S87N 0.998 7 0.000 7 0.571 2 0% benign(0.011) tolerated(0.07) neutral(0.320) HMMPfam_Glyco_transf_22 SLC26A1 10861 genome.wustl.edu 37 4 983143 983143 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_022042.2 -1 reviewed p.F528 0.946 27 0% 21 42.9% 0 - - - - NULL TACC3 10460 genome.wustl.edu 37 4 1732991 1732991 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006342.1 +1 reviewed p.L518F 0.001 38 0% 36 52.8% 100 41% benign(0) tolerated(0.12) neutral(0.261) NULL WHSC1 7468 genome.wustl.edu 37 4 1980610 1980610 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001042424.2 +1 reviewed p.W1358R 0.285 25 0% 12 41.7% 21 61.9% unknown(0) deleterious(0) - NULL SH3TC1 54436 genome.wustl.edu 37 4 8220069 8220069 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018986.3 +1 validated p.L304P 0.000 120 0% 96 44.8% 3 0% benign(0) tolerated(0.06) neutral(0.323) superfamily_SH3-domain SLIT2 9353 genome.wustl.edu 37 4 20259539 20259539 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004787.1 +1 provisional p.Q100H 1.000 182 0% 131 44.3% 5 60% benign(0.056) tolerated(0.14) neutral(0.253) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like KIAA1239 57495 genome.wustl.edu 37 4 37448440 37448440 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001144990.1 +1 validated p.I1610 0.999 124 0% 118 48.3% 0 - - - - superfamily_WD40_like TLR6 10333 genome.wustl.edu 37 4 38829899 38829899 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006068.3 -1 validated p.T399M 0.997 112 0% 99 48.5% 0 - probably_damaging(0.969) tolerated(0.2) neutral(0.460) superfamily_SSF52058 DCAF4L1 285429 genome.wustl.edu 37 4 41984044 41984044 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001029955.3 +1 validated p.A79T 1.000 99 0% 93 41.9% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) superfamily_WD40 repeat-like KIT 3815 genome.wustl.edu 37 4 55573419 55573419 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_000222.2 +1 reviewed p.D361N 0.000 127 0% 137 43.8% 0 - benign(0.247) tolerated(0.22) neutral(0.067) HMMSmart_IG,superfamily_SSF48726 UBA6 55236 genome.wustl.edu 37 4 68490818 68490818 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018227.5 -1 validated p.R869H 1.000 258 0.4% 161 42.9% 15 46.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_UBACT,superfamily_Activating enzymes of the ubiquitin-like proteins TMPRSS11E 28983 genome.wustl.edu 37 4 69342005 69342005 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014058.3 +1 validated p.L186I 0.000 208 0% 148 45.9% 1 100% benign(0) tolerated(0.64) neutral(0.003) superfamily_Pept_Ser_Cys TET2 54790 genome.wustl.edu 37 4 106196434 106196434 + Silent SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001127208.1 +1 validated p.Y1589 0.930 224 0.4% 174 17.2% 3 0% - - - NULL ALPK1 80216 genome.wustl.edu 37 4 113350370 113350370 + Silent SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001102406.1 +1 validated p.A287 0.983 113 0% 91 34.1% 3 0% - - - NULL ANK2 287 genome.wustl.edu 37 4 114120177 114120177 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001148.4 +1 reviewed p.T99I 1.000 235 0% 192 20.8% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK NDST4 64579 genome.wustl.edu 37 4 115767133 115767133 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_022569.1 -1 provisional p.T654I 0.189 146 0% 112 48.2% 0 - benign(0.001) tolerated(0.34) neutral(0.023) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 LOC645513 645513 genome.wustl.edu 37 4 120382931 120382931 + RNA SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea XR_078309.1 +1 model NULL 0.998 68 0% 62 35.5% 6 66.6% - - - - BBS12 166379 genome.wustl.edu 37 4 123664822 123664822 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_152618.2 +1 reviewed p.A592V 1.000 176 0% 168 41.1% 4 50% probably_damaging(0.966) tolerated(0.07) deleterious(0.727) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like PLK4 10733 genome.wustl.edu 37 4 128814571 128814571 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014264.3 +1 reviewed p.E774* 1.000 123 0% 118 36.4% 12 0% - - - superfamily_Kinase_like SLC10A7 84068 genome.wustl.edu 37 4 147177648 147177648 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001029998.3 -1 validated p.V340I 0.994 75 0% 56 32.1% 3 33.3% possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL TMA16 55319 genome.wustl.edu 37 4 164440656 164440656 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018352.2 +1 validated p.A201V 0.951 79 0% 52 15.4% 21 14.2% probably_damaging(0.957) deleterious(0.03) deleterious(0.765) NULL GALNTL6 442117 genome.wustl.edu 37 4 173942660 173942660 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001034845.2 +1 validated p.P508S 0.998 144 0% 79 39.2% 0 - probably_damaging(0.991) tolerated(0.12) deleterious(0.705) HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins SPCS3 60559 genome.wustl.edu 37 4 177249389 177249389 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_021928.3 +1 validated p.V151I 1.000 188 1.1% 161 36.6% 72 44.4% benign(0.006) tolerated(1) - HMMPfam_SPC22 STOX2 56977 genome.wustl.edu 37 4 184932385 184932385 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000506529 +1 known p.R154C 0.019 127 0% 93 44.1% 0 - - - - NULL IRX1 79192 genome.wustl.edu 37 5 3600261 3600261 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_024337.3 +1 validated p.A400V 1.000 23 0% 29 41.4% 0 - benign(0.184) tolerated(0.08) neutral(0.317) NULL DNAH5 1767 genome.wustl.edu 37 5 13830727 13830727 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001369.2 -1 reviewed p.G2014* 1.000 178 0% 123 44.7% 0 - - - - HMMSmart_AAA,superfamily_SSF52540 TRIO 7204 genome.wustl.edu 37 5 14369542 14369542 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_007118.2 +1 validated p.G1042 0.001 104 0% 89 46.1% 8 50% - - - NULL TRIO 7204 genome.wustl.edu 37 5 14508116 14508116 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_007118.2 +1 validated p.A2960V 1.000 162 0% 117 36.8% 45 46.6% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NIM1 167359 genome.wustl.edu 37 5 43277388 43277388 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_153361.2 +1 provisional p.K174 1.000 131 0% 140 39.3% 1 100% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ITGA2 3673 genome.wustl.edu 37 5 52344308 52344308 + Splice_Site SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002203.3 +1 reviewed e5+1 1.000 267 0% 185 42.7% 0 - - - - - ACTBL2 345651 genome.wustl.edu 37 5 56777904 56777904 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001017992.2 -1 validated p.R211* 1.000 77 0% 59 44.1% 0 - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain MAST4 375449 genome.wustl.edu 37 5 66462539 66462539 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015183.2 +1 validated p.G2322D 0.837 37 0% 51 56.9% 4 50% possibly_damaging(0.876) deleterious(0) deleterious(0.786) NULL RGNEF 64283 genome.wustl.edu 37 5 73181904 73181904 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001080479.2 +1 reviewed p.W1095C 1.000 113 0% 101 41.6% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ANKRD31 256006 genome.wustl.edu 37 5 74387163 74387163 + Frame_Shift_Del DEL A A - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000274361 -1 known p.Y1742fs 1.000 - - - - - - - - - NULL GPR98 84059 genome.wustl.edu 37 5 89971904 89971904 + Missense_Mutation SNP C C G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_032119.3 +1 reviewed p.A1774G 0.726 53 0% 58 24.1% 0 - benign(0) tolerated(0.23) neutral(0.042) HMMPfam_Calx-beta,HMMSmart_SM00237 DTWD2 285605 genome.wustl.edu 37 5 118264299 118264301 + In_Frame_Del DEL ATG ATG - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 ATG ATG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_173666.2 -1 validated p.I177in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_DTW DTWD2 285605 genome.wustl.edu 37 5 118274969 118274969 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_173666.2 -1 validated p.R109H 1.000 187 0.5% 140 41.4% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_DTW DMXL1 1657 genome.wustl.edu 37 5 118533612 118533612 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005509.4 +1 validated p.R2569H 1.000 180 0% 184 20.7% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like HSD17B4 3295 genome.wustl.edu 37 5 118813188 118813188 + Splice_Site SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000414835 +1 known e1+1 0.002 97 0% 63 42.9% 45 33.3% - - - - LOX 4015 genome.wustl.edu 37 5 121409720 121409720 + Silent SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002317.5 -1 reviewed p.T341 0.622 123 0% 67 44.8% 91 30.7% - - - HMMPfam_Lysyl_oxidase SLC22A5 6584 genome.wustl.edu 37 5 131724709 131724709 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000447841 +1 known p.A36V 0.998 83 0% 56 42.9% 13 7.6% - - - NULL TMCO6 55374 genome.wustl.edu 37 5 140019135 140019135 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018502.3 +1 provisional p.R8H 0.007 11 0% 13 53.8% 1 0% benign(0) deleterious(0.03) neutral(0.364) NULL NDUFA2 4695 genome.wustl.edu 37 5 140025206 140025206 + Missense_Mutation SNP C C G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002488.4 -1 reviewed p.R89T 0.981 203 0% 141 41.8% 445 41.1% benign(0) tolerated(0.07) neutral(0.319) NULL PCDHA10 56139 genome.wustl.edu 37 5 140237080 140237080 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018901.2 +1 reviewed p.A483T 0.346 93 0% 53 45.3% 0 - benign(0.115) tolerated(0.5) neutral(0.019) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA12 56137 genome.wustl.edu 37 5 140255331 140255331 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018903.2 +1 reviewed p.R92C 0.993 80 0% 112 25% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHB15 56121 genome.wustl.edu 37 5 140626827 140626827 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018935.2 +1 reviewed p.V561M 0.655 58 0% 50 36% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Cadherin GRXCR2 643226 genome.wustl.edu 37 5 145239452 145239452 + Silent SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001080516.1 -1 provisional p.C197 0.991 52 0% 35 57.1% 0 - - - - NULL ADRB2 154 genome.wustl.edu 37 5 148206747 148206747 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_000024.5 +1 reviewed p.T118M 1.000 226 0% 175 47.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CSNK1A1 1452 genome.wustl.edu 37 5 148886627 148886627 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001025105.1 -1 validated p.Y302H 1.000 121 0% 115 47% 143 51.7% possibly_damaging(0.804) deleterious(0.03) deleterious(0.667) superfamily_Kinase_like PDGFRB 5159 genome.wustl.edu 37 5 149499073 149499073 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002609.3 -1 reviewed p.R919W 1.000 139 0.7% 109 36.7% 30 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like NDST1 3340 genome.wustl.edu 37 5 149929320 149929320 + Silent SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001543.4 +1 validated p.T799 1.000 145 0% 111 51.4% 25 52% - - - HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases TNIP1 10318 genome.wustl.edu 37 5 150422142 150422142 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006058.3 -1 validated p.R365C 1.000 85 0% 50 34% 145 39.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL ATP10B 23120 genome.wustl.edu 37 5 160033864 160033864 + Missense_Mutation SNP C C T rs184625643 by1000genomes TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_025153.2 -1 validated p.R1023Q 1.000 139 0% 95 41.1% 0 - possibly_damaging(0.905) tolerated(0.36) neutral(0.380) superfamily_HAD-like SLIT3 6586 genome.wustl.edu 37 5 168187874 168187874 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003062.2 -1 validated p.R560W 0.997 127 0% 75 46.7% 13 30.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_LRR_1,HMMSmart_SM00368,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_RNI-like KCNMB1 3779 genome.wustl.edu 37 5 169805894 169805894 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004137.2 -1 reviewed p.Q130 0.044 162 0% 118 44.1% 15 6.6% - - - HMMPfam_CaKB TRIM41 90933 genome.wustl.edu 37 5 180651586 180651586 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_033549.3 +1 validated p.R196H 0.990 120 0% 93 11.8% 18 11.1% possibly_damaging(0.948) deleterious(0) deleterious(0.836) superfamily_RING/U-box TRIM26 7726 genome.wustl.edu 37 6 30164453 30164453 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003449.3 -1 validated p.R202Q 1.000 47 0% 38 44.7% 34 38.2% probably_damaging(0.996) tolerated(1) neutral(0.462) NULL TNXB 7148 genome.wustl.edu 37 6 32049355 32049355 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_019105.6 -1 reviewed p.R1278C 0.086 54 1.9% 49 40.8% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III LOC100287516 100287516 genome.wustl.edu 37 6 32942491 32942491 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea XM_002342622.1 -1 model p.T5I 1.000 74 0% 60 33.3% 111 43.2% - - - NULL TMEM217 221468 genome.wustl.edu 37 6 37186506 37186506 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_145316.3 -1 validated p.I101V 0.990 198 0% 186 43.5% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL TREM2 54209 genome.wustl.edu 37 6 41129333 41129333 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018965.2 -1 reviewed p.N20S 0.643 67 0% 52 50% 4 0% probably_damaging(0.995) tolerated(0.2) deleterious(0.507) HMMPfam_V-set,superfamily_Immunoglobulin TFEB 7942 genome.wustl.edu 37 6 41652342 41652342 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_007162.2 -1 validated p.L476 1.000 22 0% 20 30% 8 12.5% - - - NULL PGC 5225 genome.wustl.edu 37 6 41710161 41710161 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002630.3 -1 reviewed p.V172I 0.000 64 0% 55 45.5% 2 100% benign(0) tolerated(0.37) neutral(0.019) HMMPfam_Asp,superfamily_Pept_Aspartic PTK7 5754 genome.wustl.edu 37 6 43100354 43100354 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002821.3 +1 reviewed p.A386V 0.992 32 0% 23 17.4% 72 11.1% possibly_damaging(0.813) tolerated(0.19) neutral(0.356) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin CUL9 23113 genome.wustl.edu 37 6 43152535 43152535 + Frame_Shift_Del DEL A A - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015089.2 +1 validated p.R163fs 1.000 - - - - - - - - - superfamily_ARM repeat CDC5L 988 genome.wustl.edu 37 6 44371579 44371579 + Silent SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001253.2 +1 reviewed p.L191 1.000 109 0.9% 84 41.7% 5 40% - - - NULL BAI3 577 genome.wustl.edu 37 6 69758210 69758210 + Silent SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001704.2 +1 reviewed p.T747 0.819 93 0% 91 11% 0 - - - - NULL FAM135A 57579 genome.wustl.edu 37 6 71185158 71185158 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001105531.2 +1 validated p.C68Y 1.000 137 0.7% 139 38.8% 2 0% benign(0.002) tolerated(0.43) neutral(0.013) NULL RIMS1 22999 genome.wustl.edu 37 6 72968801 72968801 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014989.4 +1 reviewed p.S1014P 1.000 175 0% 117 36.8% 0 - benign(0.048) tolerated(0.23) neutral(0.045) NULL MMS22L 253714 genome.wustl.edu 37 6 97677001 97677001 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_198468.2 -1 predicted p.A603V 1.000 136 0% 102 41.2% 5 60% possibly_damaging(0.928) tolerated(0.24) neutral(0.413) NULL BEND3 57673 genome.wustl.edu 37 6 107390102 107390102 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001080450.2 -1 validated p.G765R 1.000 88 0% 62 38.7% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BEN SEC63 11231 genome.wustl.edu 37 6 108224173 108224173 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_007214.4 -1 reviewed p.S362P 1.000 88 0% 68 39.7% 37 21.6% possibly_damaging(0.437) deleterious(0) deleterious(0.587) HMMPfam_Sec63,HMMSmart_SEC63 AKD1 221264 genome.wustl.edu 37 6 109818747 109818747 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000490722 -1 known p.W146* 1.000 85 0% 91 41.8% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL DDO 8528 genome.wustl.edu 37 6 110714039 110714039 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003649.2 -1 reviewed p.A350V 0.522 37 0% 33 30.3% 3 0% benign(0.001) tolerated(0.06) neutral(0.323) HMMPfam_DAO,superfamily_Nucleotide-binding domain MAN1A1 4121 genome.wustl.edu 37 6 119510891 119510891 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005907.2 -1 reviewed p.Q495R 0.931 133 0% 90 45.6% 2 0% possibly_damaging(0.518) tolerated(0.44) neutral(0.187) HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 THEMIS 387357 genome.wustl.edu 37 6 128150875 128150875 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001010923.2 -1 reviewed p.C152Y 1.000 199 0.5% 156 47.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PTPRK 5796 genome.wustl.edu 37 6 128319979 128319979 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000415046 -1 known p.R145Q 0.574 146 0% 105 16.2% 20 5% - - - NULL STX7 8417 genome.wustl.edu 37 6 132793423 132793423 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003569.2 -1 validated p.Q83* 1.000 275 0% 259 45.2% 12 16.6% - - - HMMPfam_Syntaxin,HMMSmart_SM00503,superfamily_t-snare proteins BCLAF1 9774 genome.wustl.edu 37 6 136597384 136597384 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014739.2 -1 reviewed p.S427P 1.000 456 0% 319 16.3% 42 0% probably_damaging(0.991) tolerated(0.09) deleterious(0.740) NULL BCLAF1 9774 genome.wustl.edu 37 6 136599634 136599634 + Missense_Mutation SNP A A C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014739.2 -1 reviewed p.S129A 1.000 264 0% 192 19.3% 43 53.4% unknown(0) tolerated(0.1) - NULL MAP3K5 4217 genome.wustl.edu 37 6 136972137 136972137 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005923.3 -1 reviewed p.V591 0.954 196 0% 174 40.2% 4 0% - - - NULL IL20RA 53832 genome.wustl.edu 37 6 137330454 137330454 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014432.2 -1 reviewed p.T193 0.984 202 1% 169 44.4% 25 20% - - - superfamily_Fibronectin type III,HMMPfam_IL10Ra-bind ARID1B 57492 genome.wustl.edu 37 6 157099312 157099313 + In_Frame_Ins INS - - CAC novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_017519.2 +1 validated p.29in_frame_insH 0.995:1.000 - - - - - - - - - NULL TCP1 6950 genome.wustl.edu 37 6 160205064 160205064 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_030752.2 -1 reviewed p.C236R 1.000 281 0.4% 233 42.9% 300 41.3% probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase,superfamily_SSF52029,superfamily_SSF54849 MAP3K4 4216 genome.wustl.edu 37 6 161530817 161530817 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005922.2 +1 reviewed p.D1423N 1.000 152 0% 114 52.6% 15 40% probably_damaging(1) tolerated(0.84) deleterious(0.500) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FRMD1 79981 genome.wustl.edu 37 6 168465693 168465693 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_024919.3 -1 validated p.R169H 1.000 45 0% 20 20% 0 - probably_damaging(0.993) tolerated(0.08) deleterious(0.750) HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 THBS2 7058 genome.wustl.edu 37 6 169648667 169648667 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003247.2 -1 reviewed p.V152I 0.810 64 0% 41 43.9% 12 0% benign(0.001) tolerated(1) - HMMSmart_TSPN,superfamily_ConA_like_lec_gl DLL1 28514 genome.wustl.edu 37 6 170594217 170594217 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005618.3 -1 reviewed p.E347K 1.000 151 0% 81 18.5% 4 0% possibly_damaging(0.942) tolerated(0.17) neutral(0.446) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin SUN1 23353 genome.wustl.edu 37 7 883206 883206 + Nonsense_Mutation SNP T T A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000403868 +1 known p.L236* 0.001 25 0% 36 47.2% 0 - - - - HMMPfam_MRP INTS1 26173 genome.wustl.edu 37 7 1516506 1516506 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001080453.2 -1 validated p.L1663I 1.000 140 0% 100 39% 100 45% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL INTS1 26173 genome.wustl.edu 37 7 1536899 1536899 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001080453.2 -1 validated p.R493W 1.000 67 0% 37 48.6% 28 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HOXA7 3204 genome.wustl.edu 37 7 27195996 27195996 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006896.3 -1 reviewed p.V57I 1.000 50 0% 42 33.3% 3 33.3% benign(0.222) tolerated(0.28) neutral(0.053) NULL HOXA11 3207 genome.wustl.edu 37 7 27224352 27224352 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005523.5 -1 reviewed p.Q138* 1.000 56 0% 24 54.2% 11 0% - - - NULL ELMO1 9844 genome.wustl.edu 37 7 37264564 37264564 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014800.9 -1 reviewed p.S207 0.234 122 0% 84 42.9% 17 58.8% - - - superfamily_ARM repeat GLI3 2737 genome.wustl.edu 37 7 42012081 42012081 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_000168.5 -1 reviewed p.P653L 0.999 156 0% 150 42% 2 0% benign(0.307) tolerated(0.26) neutral(0.130) NULL C7orf25 79020 genome.wustl.edu 37 7 42949581 42949581 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001099858.1 -1 validated p.A365T 1.000 135 0% 113 35.4% 25 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1308 PKD1L1 168507 genome.wustl.edu 37 7 47913530 47913530 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_138295.2 -1 reviewed p.R1288H 0.037 166 0.6% 109 38.5% 0 - benign(0.032) deleterious(0.02) neutral(0.385) NULL ABCA13 154664 genome.wustl.edu 37 7 48284224 48284224 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_152701.3 +1 reviewed p.W438* 0.998 148 0% 89 32.6% 0 - - - - NULL ABCA13 154664 genome.wustl.edu 37 7 48313429 48313429 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_152701.3 +1 reviewed p.S1389N 0.005 63 0% 70 61.4% 0 - probably_damaging(0.99) - - NULL TRIM50 135892 genome.wustl.edu 37 7 72727474 72727474 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_178125.2 -1 provisional p.A303T 1.000 41 0% 32 37.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00589 GTF2IRD2B 389524 genome.wustl.edu 37 7 74552657 74552657 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001003795.2 +1 reviewed p.G291* 0.999 280 0% 268 10.4% 0 - - - - NULL YWHAG 7532 genome.wustl.edu 37 7 75959031 75959031 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_012479.3 -1 reviewed p.D203N 1.000 161 0% 155 42.6% 163 51.5% possibly_damaging(0.714) deleterious(0) deleterious(0.703) HMMPfam_14-3-3,HMMSmart_SM00101,superfamily_14-3-3 protein PCLO 27445 genome.wustl.edu 37 7 82580271 82580271 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_033026.5 -1 validated p.Q3211 1.000 88 0% 62 43.5% 3 33.3% - - - NULL SEMA3E 9723 genome.wustl.edu 37 7 83025954 83025954 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_012431.2 -1 reviewed p.K486N 1.000 303 0% 283 38.5% 5 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema TAF6 6878 genome.wustl.edu 37 7 99709565 99709565 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005641.2 -1 reviewed p.S260G 1.000 101 0% 84 44% 75 38.6% possibly_damaging(0.895) deleterious(0.01) deleterious(0.758) NULL C7orf61 402573 genome.wustl.edu 37 7 100061092 100061092 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001004323.1 -1 predicted p.G94D 0.002 51 0% 44 47.7% 0 - probably_damaging(0.991) tolerated(0.37) neutral(0.463) NULL SRRT 51593 genome.wustl.edu 37 7 100485430 100485430 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015908.5 +1 validated p.R759H 1.000 84 0% 71 26.8% 124 8% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_ARS2 MUC17 140453 genome.wustl.edu 37 7 100680242 100680242 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001040105.1 +1 provisional p.P1849S 0.013 159 0% 179 49.7% 0 - unknown(0) - - NULL VGF 7425 genome.wustl.edu 37 7 100807026 100807028 + In_Frame_Del DEL CCT CCT - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003378.3 -1 reviewed p.E366in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL CUX1 1523 genome.wustl.edu 37 7 101840429 101840429 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_181552.2 +1 reviewed p.G580* 1.000 77 0% 75 41.3% 5 20% - - - HMMPfam_CUT,superfamily_lambda repressor-like DNA-binding domains PUS7 54517 genome.wustl.edu 37 7 105142928 105142929 + Frame_Shift_Del DEL CT CT - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_019042.3 -1 validated p.E223fs 1.000:1.000 - - - - - - - - - superfamily_PsdUridine_synth_cat_dom ZC3HAV1 56829 genome.wustl.edu 37 7 138732367 138732367 + Silent SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_020119.3 -1 reviewed p.T894 0.000 143 0% 111 36.9% 3 0% - - - HMMPfam_PARP,superfamily_ADP-ribosylation MGAM 8972 genome.wustl.edu 37 7 141736710 141736710 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004668.2 +1 reviewed p.Y722H 1.000 184 0% 144 34.7% 0 - probably_damaging(0.99) tolerated(0.12) deleterious(0.702) HMMPfam_Glyco_hydro_31 TRBV7-8 28590 genome.wustl.edu 37 7 142099671 142099671 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000390359 -1 known p.P44Q 0.236 110 0% 89 47.2% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 NUB1 51667 genome.wustl.edu 37 7 151065946 151065946 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000460712 +1 known p.R43Q 0.997 74 0% 66 36.4% 20 45% - - - HMMPfam_UBA,superfamily_UBA-like,HMMSmart_SM00165 RBM33 155435 genome.wustl.edu 37 7 155503968 155503968 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000392761 +1 known p.R112H 0.997 66 0% 55 49.1% 2 0% - - - NULL ERICH1 157697 genome.wustl.edu 37 8 623569 623569 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_207332.1 -1 provisional p.A261 0.099 183 0% 196 45.9% 18 27.7% - - - NULL CSMD1 64478 genome.wustl.edu 37 8 2820778 2820778 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_033225.5 -1 validated p.R3141 0.001 66 0% 60 15% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain XKR5 389610 genome.wustl.edu 37 8 6669183 6669183 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000409172 -1 known p.G532* 0.001 388 0% 295 37.3% 0 - - - - NULL TNKS 8658 genome.wustl.edu 37 8 9627721 9627721 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003747.2 +1 validated p.P1282 0.460 73 0% 59 39% 14 28.5% - - - HMMPfam_PARP,superfamily_ADP-ribosylation ZNF705F 790969 genome.wustl.edu 37 8 12216470 12216470 + Silent SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000400078 +1 known p.L157 0.000 149 0% 113 40.7% 0 - - - - superfamily_SSF57667 FGL1 2267 genome.wustl.edu 37 8 17739575 17739575 + Silent SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004467.3 -1 reviewed p.E59 0.739 180 0% 147 39.5% 0 - - - - NULL LPL 4023 genome.wustl.edu 37 8 19813517 19813517 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000311322 +1 known p.G314D 1.000 83 1.2% 68 51.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases SLC18A1 6570 genome.wustl.edu 37 8 20036741 20036741 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001135691.2 -1 validated p.Q127* 0.992 291 0.3% 210 39.5% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter KIAA1967 57805 genome.wustl.edu 37 8 22472508 22472508 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_021174.4 +1 validated p.T400I 1.000 64 0% 35 28.6% 64 43.7% probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL TNFRSF10A 8797 genome.wustl.edu 37 8 23060253 23060253 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003844.3 -1 reviewed p.P142H 0.000 179 0% 137 42.3% 5 20% benign(0.004) tolerated(0.11) neutral(0.272) superfamily_TNF receptor-like DOCK5 80005 genome.wustl.edu 37 8 25166367 25166367 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_024940.6 +1 validated p.I373T 0.960 69 0% 79 46.8% 0 - benign(0.003) tolerated(0.22) neutral(0.042) NULL KIF13B 23303 genome.wustl.edu 37 8 28967487 28967487 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015254.3 -1 validated p.L1344P 0.965 116 0% 96 38.5% 8 50% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL GTF2E2 2961 genome.wustl.edu 37 8 30469883 30469883 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002095.4 -1 validated p.R161Q 1.000 243 0% 188 41% 62 38.7% benign(0.056) tolerated(0.15) neutral(0.244) NULL TEX15 56154 genome.wustl.edu 37 8 30702261 30702261 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_031271.3 -1 validated p.N1425D 0.061 135 0% 134 44.8% 1 100% probably_damaging(0.957) deleterious(0) deleterious(0.845) NULL TTI2 80185 genome.wustl.edu 37 8 33369718 33369718 + Silent SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001102401.1 -1 validated p.A138 0.000 94 0% 81 40.7% 16 43.7% - - - NULL DDHD2 23259 genome.wustl.edu 37 8 38111155 38111155 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015214.2 +1 validated p.R658H 1.000 265 0% 228 43% 26 38.4% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_DDHD ADAM32 203102 genome.wustl.edu 37 8 39044508 39044508 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_145004.5 +1 validated p.D332 0.995 160 0% 151 38.4% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" CHRNA6 8973 genome.wustl.edu 37 8 42612110 42612110 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004198.2 -1 provisional p.A112V 0.940 189 0% 151 42.4% 0 - benign(0.055) deleterious(0) neutral(0.448) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like CRISPLD1 83690 genome.wustl.edu 37 8 75941636 75941636 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_031461.4 +1 validated p.C445 1.000 188 0% 133 43.6% 32 40.6% - - - HMMPfam_LCCL,HMMSmart_SM00603,superfamily_LCCL domain ZFHX4 79776 genome.wustl.edu 37 8 77617719 77617719 + Missense_Mutation SNP C C G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_024721.4 +1 validated p.P466A 0.997 86 0% 80 33.8% 0 - benign(0.253) - - NULL MATN2 4147 genome.wustl.edu 37 8 98943526 98943526 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002380.3 +1 reviewed p.R163Q 0.997 64 0% 49 36.7% 3 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like UBR5 51366 genome.wustl.edu 37 8 103301711 103301711 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015902.4 -1 reviewed p.Q1561H 1.000 257 0% 212 42.9% 11 27.2% possibly_damaging(0.855) tolerated(0.17) neutral(0.389) NULL FER1L6 654463 genome.wustl.edu 37 8 125076701 125076701 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001039112.2 +1 validated p.D1148N 0.297 83 0% 78 43.6% 0 - benign(0.344) tolerated(0.46) neutral(0.120) NULL TG 7038 genome.wustl.edu 37 8 133953647 133953647 + Missense_Mutation SNP A A C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003235.4 +1 reviewed p.Q1698P 0.990 217 0% 155 51% 0 - probably_damaging(0.963) deleterious(0.01) deleterious(0.811) NULL SLC45A4 57210 genome.wustl.edu 37 8 142228829 142228829 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001080431.1 -1 provisional p.R253C 1.000 40 0% 23 39.1% 10 30% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_MFS_1,superfamily_MFS general substrate transporter HEATR7A 727957 genome.wustl.edu 37 8 145235357 145235357 + Missense_Mutation SNP G G A rs185394696 by1000genomes TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_032450.2 +1 provisional p.V165I 1.000 117 0% 83 34.9% 26 30.7% benign(0) tolerated(1) - superfamily_ARM repeat CPSF1 29894 genome.wustl.edu 37 8 145620691 145620691 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_013291.2 -1 validated p.R1019C 1.000 46 0% 43 48.8% 87 51.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL C8orf82 414919 genome.wustl.edu 37 8 145752978 145752978 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001001795.1 -1 predicted p.G133 0.962 20 0% 13 53.8% 30 53.3% - - - NULL KANK1 23189 genome.wustl.edu 37 9 744515 744515 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015158.2 +1 reviewed p.A1308T 1.000 118 0% 124 12.1% 29 6.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ZDHHC21 340481 genome.wustl.edu 37 9 14674267 14674267 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_178566.4 -1 validated p.W24* 1.000 100 0% 61 39.3% 4 25% - - - NULL TAF1L 138474 genome.wustl.edu 37 9 32635480 32635480 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_153809.2 -1 provisional p.G33D 0.986 114 0% 118 10.2% 0 - possibly_damaging(0.942) tolerated(0.23) neutral(0.428) HMMPfam_TBP-binding,superfamily_TAF_II_230 NOL6 65083 genome.wustl.edu 37 9 33466348 33466348 + Missense_Mutation SNP G G C rs35135082 byCluster;byFrequency TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_022917.4 -1 reviewed p.R723G 0.971 121 0% 104 36.5% 10 50% possibly_damaging(0.669) tolerated(0.38) neutral(0.255) HMMPfam_Nrap TLN1 7094 genome.wustl.edu 37 9 35706500 35706500 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006289.3 -1 reviewed p.I1713V 1.000 90 0% 54 55.6% 85 38.8% benign(0.002) tolerated(0.38) neutral(0.018) NULL C9orf128 392307 genome.wustl.edu 37 9 35818890 35818890 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000423537 -1 known p.R390C 0.005 101 0% 80 50% 0 - benign(0) tolerated(0.12) neutral(0.261) NULL PCSK5 5125 genome.wustl.edu 37 9 78686741 78686741 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006200.3 +1 reviewed p.P274L 1.000 74 0% 53 41.5% 12 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_S8,superfamily_Subtilisin-like PCSK5 5125 genome.wustl.edu 37 9 78710921 78710921 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006200.3 +1 reviewed p.S337I 1.000 196 0% 173 46.2% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_S8,superfamily_Subtilisin-like ZCCHC6 79670 genome.wustl.edu 37 9 88916415 88916415 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_024617.3 -1 validated p.T1399I 0.999 452 0.2% 404 42.1% 16 43.7% possibly_damaging(0.849) deleterious(0) deleterious(0.770) superfamily_Retrovirus zinc finger-like domains CTSL1 1514 genome.wustl.edu 37 9 90343687 90343687 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001912.4 +1 reviewed p.G195D 1.000 158 0% 147 53.1% 56 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,superfamily_SSF54001 LOC645937 645937 genome.wustl.edu 37 9 90559212 90559212 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea XM_928905.4 -1 model p.Q179* 1.000 43 0% 29 44.8% 0 - - - - NULL C9orf84 158401 genome.wustl.edu 37 9 114543278 114543278 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000374283 -1 known p.P63 0.000 129 0% 113 42.5% 0 - - - - NULL KIF12 113220 genome.wustl.edu 37 9 116857526 116857526 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_138424.1 -1 provisional p.D190N 0.983 80 0% 44 11.4% 0 - possibly_damaging(0.912) deleterious(0.03) deleterious(0.728) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 TNC 3371 genome.wustl.edu 37 9 117786399 117786399 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002160.2 -1 validated p.Y2116* 1.000 177 0% 136 38.2% 76 5.2% - - - HMMPfam_Fibrinogen_C,HMMSmart_FBG,superfamily_Fibrinogen_a/b/g_C GPR144 347088 genome.wustl.edu 37 9 127214961 127214961 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000334810 +1 known p.V99 0.938 58 1.7% 36 44.4% 0 - - - - NULL GPR144 347088 genome.wustl.edu 37 9 127228572 127228572 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000439837 +1 known p.Y602H 0.086 80 1.3% 66 45.5% 0 - benign(0.006) - - NULL TBC1D13 54662 genome.wustl.edu 37 9 131568287 131568287 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018201.3 +1 validated p.C356 0.573 106 0% 84 50% 27 48.1% - - - HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC UCK1 83549 genome.wustl.edu 37 9 134400586 134400586 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001135954.1 -1 validated p.A194T 1.000 71 0% 50 42% 44 47.7% benign(0.164) deleterious(0.04) neutral(0.364) NULL DBH 1621 genome.wustl.edu 37 9 136501571 136501571 + Silent SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_000787.3 +1 reviewed p.V26 1.000 35 0% 21 19% 0 - - - - NULL SEC16A 9919 genome.wustl.edu 37 9 139371472 139371472 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014866.1 -1 validated p.A199V 0.029 42 0% 24 33.3% 10 20% unknown(0) deleterious(0) - NULL FAM69B 138311 genome.wustl.edu 37 9 139617657 139617657 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_152421.3 +1 validated p.A243T 0.002 39 0% 19 63.2% 37 40.5% benign(0) tolerated(0.55) neutral(0.007) NULL NDOR1 27158 genome.wustl.edu 37 9 140110586 140110586 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001144026.1 +1 reviewed p.G541E 0.431 74 0% 47 48.9% 22 50% benign(0.201) deleterious(0.04) neutral(0.368) HMMPfam_NAD_binding_1,superfamily_SSF52343 CUBN 8029 genome.wustl.edu 37 10 17130263 17130263 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001081.3 -1 reviewed p.C616Y 1.000 140 0% 124 40.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain PIP4K2A 5305 genome.wustl.edu 37 10 22830970 22830970 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005028.4 -1 reviewed p.A267T 1.000 107 0% 102 18.6% 27 25.9% benign(0.426) tolerated(0.74) neutral(0.140) HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like ARHGAP21 57584 genome.wustl.edu 37 10 24908692 24908692 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_020824.3 -1 validated p.Q711R 0.001 134 0% 107 48.6% 7 42.8% benign(0.045) tolerated(0.44) neutral(0.015) NULL NRP1 8829 genome.wustl.edu 37 10 33552749 33552749 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003873.5 -1 validated p.P161 0.016 185 0.5% 156 47.4% 14 28.5% - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain RASSF4 83937 genome.wustl.edu 37 10 45479482 45479482 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_032023.3 +1 reviewed p.S98 0.000 51 0% 39 43.6% 34 41.1% - - - NULL ADAMTS14 140766 genome.wustl.edu 37 10 72520507 72520507 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_139155.2 +1 reviewed p.G1193 0.999 85 0% 66 37.9% 5 40% - - - NULL ANXA11 311 genome.wustl.edu 37 10 81923291 81923292 + Frame_Shift_Ins INS - - GA novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001157.2 -1 reviewed p.Q343fs 1.000:1.000 - - - - - - - - - superfamily_Annexin SH2D4B 387694 genome.wustl.edu 37 10 82363461 82363461 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_207372.2 +1 validated p.R257Q 0.048 27 0% 21 33.3% 0 - benign(0.002) tolerated(0.58) neutral(0.005) NULL PTEN 5728 genome.wustl.edu 37 10 89717672 89717672 + Nonsense_Mutation SNP C C T rs121909219 byCluster TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000371953 +1 known p.R233* 0.984 175 0.6% 120 45.8% 97 3% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 NOC3L 64318 genome.wustl.edu 37 10 96099617 96099617 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_022451.9 -1 provisional p.R614H 1.000 90 0% 89 36% 19 31.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CBF ALDH18A1 5832 genome.wustl.edu 37 10 97402848 97402848 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002860.3 -1 reviewed p.K68 1.000 76 0% 47 44.7% 84 33.3% - - - NULL C10orf28 27291 genome.wustl.edu 37 10 99968621 99968621 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014472.4 +1 validated p.M250I 0.000 102 0% 101 35.6% 4 50% benign(0.258) tolerated(0.12) neutral(0.288) NULL DNMBP 23268 genome.wustl.edu 37 10 101715865 101715865 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015221.2 -1 validated p.Y456H 0.017 87 0% 74 43.2% 0 - possibly_damaging(0.92) tolerated(0.33) neutral(0.395) NULL HIF1AN 55662 genome.wustl.edu 37 10 102305723 102305723 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_017902.2 +1 validated p.Y249 0.983 140 0% 103 51.5% 26 42.3% - - - HMMSmart_JmjC,superfamily_SSF51197 TRIM8 81603 genome.wustl.edu 37 10 104416576 104416576 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_030912.2 +1 validated p.A374V 1.000 47 0% 29 41.4% 109 35.7% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL INA 9118 genome.wustl.edu 37 10 105037958 105037958 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_032727.3 +1 reviewed p.R330 0.991 14 0% 17 23.5% 4 0% - - - HMMPfam_Filament WDR96 80217 genome.wustl.edu 37 10 105953648 105953648 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_025145.5 -1 provisional p.S473L 0.943 41 0% 32 25% 3 33.3% probably_damaging(0.999) tolerated(0.65) deleterious(0.493) superfamily_WD40 repeat-like AFAP1L2 84632 genome.wustl.edu 37 10 116075401 116075401 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001001936.1 -1 validated p.R177H 1.000 26 0% 20 40% 9 33.3% probably_damaging(0.998) tolerated(0.18) deleterious(0.530) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ENSG00000222588 0 genome.wustl.edu 37 10 120820515 120820515 + RNA SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000410656 -1 novel NULL 1.000 44 2.3% 33 45.5% 0 - - - - - LRRC27 80313 genome.wustl.edu 37 10 134178970 134178970 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001143757.1 +1 validated p.H444 0.072 126 0% 88 39.8% 10 30% - - - NULL TSPAN4 7106 genome.wustl.edu 37 11 865991 865991 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001025234.1 +1 reviewed p.A213V 0.389 60 0% 54 48.1% 57 35% benign(0) tolerated(0.2) neutral(0.049) HMMPfam_Tetraspannin CHID1 66005 genome.wustl.edu 37 11 884142 884142 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001142676.1 -1 validated p.H268 0.932 100 0% 69 49.3% 179 49.7% - - - HMMPfam_Glyco_hydro_18,HMMSmart_Glyco_18,superfamily_Glyco_hydro_cat TNNI2 7136 genome.wustl.edu 37 11 1861771 1861771 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003282.3 +1 reviewed p.Q24R 1.000 16 0% 13 38.5% 1 0% possibly_damaging(0.556) tolerated(0.14) neutral(0.439) HMMPfam_Troponin CD81 975 genome.wustl.edu 37 11 2417170 2417170 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004356.3 +1 reviewed p.S177 0.001 62 0% 43 58.1% 1223 40.1% - - - superfamily_Tetraspanin,HMMPfam_Tetraspannin NUP98 4928 genome.wustl.edu 37 11 3707378 3707378 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_016320.4 -1 reviewed p.D1501Y 1.000 112 0% 85 16.5% 39 20.5% benign(0.012) deleterious(0.02) neutral(0.384) NULL PPFIBP2 8495 genome.wustl.edu 37 11 7586924 7586925 + Frame_Shift_Del DEL GA GA - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003621.2 +1 validated p.R70fs 1.000:1.000 - - - - - - - - - NULL QSER1 79832 genome.wustl.edu 37 11 32955457 32955457 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001076786.1 +1 provisional p.R756C 0.978 103 0% 74 43.2% 5 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CAT 847 genome.wustl.edu 37 11 34482829 34482829 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001752.3 +1 reviewed p.R363H 1.000 174 0% 149 41.6% 72 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Catalase_N,HMMPfam_Catalase OR8H3 390152 genome.wustl.edu 37 11 55890572 55890572 + Missense_Mutation SNP G G A rs186768016 by1000genomes TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001005201.1 +1 provisional p.V242I 0.101 277 0% 250 41.2% 0 - benign(0.005) deleterious(0) neutral(0.445) HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000251217 0 genome.wustl.edu 37 11 60785037 60785038 + RNA INS - - A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000505761 -1 known NULL 0.006:0.003 - - - - - - - - - - EML3 256364 genome.wustl.edu 37 11 62374518 62374518 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000394776 -1 known p.H467Y 1.000 119 0% 96 33.3% 32 31.2% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like INTS5 80789 genome.wustl.edu 37 11 62416021 62416021 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_030628.1 -1 provisional p.R511W 0.947 46 0% 31 41.9% 30 40% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) NULL FERMT3 83706 genome.wustl.edu 37 11 63978253 63978253 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_178443.2 +1 reviewed p.R111C 0.997 43 0% 43 48.8% 4 0% benign(0.071) tolerated(0.05) neutral(0.350) HMMSmart_SM00295 OVOL1 5017 genome.wustl.edu 37 11 65562182 65562182 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004561.2 +1 reviewed p.H164 0.883 65 0% 33 42.4% 12 41.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PACS1 55690 genome.wustl.edu 37 11 65961044 65961044 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018026.2 +1 reviewed p.Q148H 1.000 142 0% 120 40.8% 29 34.4% benign(0.293) tolerated(0.06) neutral(0.413) NULL SPTBN2 6712 genome.wustl.edu 37 11 66466238 66466238 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006946.2 -1 reviewed p.E1296K 1.000 140 0% 106 33% 43 58.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat ADRBK1 156 genome.wustl.edu 37 11 67052853 67052853 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001619.3 +1 reviewed p.P668S 0.998 18 0% 14 42.9% 97 44.3% benign(0) tolerated(0.48) neutral(0.011) superfamily_SSF50729 PITPNM1 9600 genome.wustl.edu 37 11 67266086 67266086 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004910.2 -1 validated p.A489T 1.000 65 0% 42 45.2% 78 42.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SUV420H1 51111 genome.wustl.edu 37 11 67925554 67925554 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_017635.3 -1 reviewed p.N753 0.225 291 0% 288 37.5% 16 18.7% - - - NULL CCND1 595 genome.wustl.edu 37 11 69466031 69466032 + In_Frame_Ins INS - - GCG novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_053056.2 +1 reviewed p.292in_frame_insR 1.000:0.995 - - - - - - - - - NULL KRTAP5-8 57830 genome.wustl.edu 37 11 71249142 71249142 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_021046.2 +1 validated p.C14Y 1.000 94 0% 102 60.8% 0 - unknown(0) deleterious(0) - NULL OR2AT4 341152 genome.wustl.edu 37 11 74800638 74800638 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001005285.1 -1 provisional p.L41I 0.708 184 0% 174 43.1% 0 - possibly_damaging(0.489) tolerated(0.22) neutral(0.205) superfamily_Family A G protein-coupled receptor-like MYO7A 4647 genome.wustl.edu 37 11 76869440 76869440 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_000260.3 +1 reviewed p.A323T 1.000 57 0% 30 40% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases RSF1 51773 genome.wustl.edu 37 11 77387915 77387915 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_016578.3 -1 validated p.R1088H 1.000 271 0% 212 46.2% 18 44.4% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL RSF1 51773 genome.wustl.edu 37 11 77436696 77436696 + Silent SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000440064 -1 known p.L116S 0.663 269 0% 267 40.1% 8 62.5% - - - NULL KCTD14 65987 genome.wustl.edu 37 11 77727907 77727907 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_023930.3 -1 validated p.S167N 0.000 107 0.9% 101 44.6% 25 36% benign(0.004) tolerated(0.33) neutral(0.024) NULL LOC100129932 100129932 genome.wustl.edu 37 11 93862255 93862259 + Frame_Shift_Del DEL CCCGC CCCGC - rs139739627 byCluster;by1000genomes TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 CCCGC CCCGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea XM_001725210.2 -1 model p.A240fs 0.001:0.001:0.007:0.071:0.072 - - - - - - - - - NULL MRE11A 4361 genome.wustl.edu 37 11 94179033 94179033 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005591.3 -1 reviewed p.R604C 0.050 115 0% 103 35.9% 9 66.6% possibly_damaging(0.947) deleterious(0.02) deleterious(0.774) NULL DIXDC1 85458 genome.wustl.edu 37 11 111844945 111844945 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000440460 +1 known p.R172Q 1.000 103 0% 72 48.6% 0 - benign(0.025) tolerated(0.23) neutral(0.043) NULL IL10RA 3587 genome.wustl.edu 37 11 117870000 117870000 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001558.3 +1 reviewed p.G461C 0.018 71 0% 91 49.5% 3 0% probably_damaging(0.975) deleterious(0.05) deleterious(0.762) NULL PHLDB1 23187 genome.wustl.edu 37 11 118518706 118518706 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001144758.1 +1 validated p.V1190I 1.000 189 0% 183 43.2% 31 35.4% benign(0.406) tolerated(0.39) neutral(0.147) NULL RPS25 6230 genome.wustl.edu 37 11 118886581 118886581 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001028.2 -1 reviewed p.A118T 1.000 287 0% 264 43.2% 862 41.9% benign(0) tolerated(0.12) neutral(0.261) NULL PDZD3 79849 genome.wustl.edu 37 11 119058022 119058022 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_024791.3 +1 validated p.T125I 0.035 31 0% 41 63.4% 0 - benign(0.012) tolerated(0.37) neutral(0.019) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ TECTA 7007 genome.wustl.edu 37 11 121008359 121008359 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005422.2 +1 reviewed p.C1057 1.000 127 0% 77 49.4% 0 - - - - NULL ETS1 2113 genome.wustl.edu 37 11 128359285 128359285 + Silent SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001143820.1 -1 validated p.N145 0.061 146 0% 123 39% 16 25% - - - HMMPfam_SAM_PNT,HMMSmart_SAM_PNT,superfamily_SAM_homology ADAMTS15 170689 genome.wustl.edu 37 11 130343148 130343148 + Frame_Shift_Del DEL C C - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_139055.2 +1 reviewed p.T762fs 1.000 - - - - - - - - - HMMPfam_ADAM_spacer1 CD163L1 283316 genome.wustl.edu 37 12 7556285 7556285 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_174941.4 -1 reviewed p.G418 0.001 180 0% 121 43.8% 0 - - - - HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like LMO3 55885 genome.wustl.edu 37 12 16753659 16753659 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001001395.1 -1 validated p.R46C 1.000 132 0% 109 42.2% 2 50% possibly_damaging(0.815) deleterious(0) deleterious(0.752) HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) ABCC9 10060 genome.wustl.edu 37 12 22025661 22025661 + Missense_Mutation SNP T T A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005691.2 -1 reviewed p.Q699L 1.000 134 0% 100 50% 0 - possibly_damaging(0.805) tolerated(0.07) deleterious(0.622) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases KRAS 3845 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T rs112445441 byCluster TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_033360.2 -1 reviewed p.G13D 1.000 225 0% 150 40% 17 41.1% benign(0.184) deleterious(0) neutral(0.462) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases TM7SF3 51768 genome.wustl.edu 37 12 27127127 27127127 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_016551.2 -1 validated p.A495D 1.000 165 0% 166 36.7% 33 39.3% possibly_damaging(0.948) deleterious(0.05) deleterious(0.736) NULL BICD1 636 genome.wustl.edu 37 12 32490521 32490521 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001714.2 +1 reviewed p.R781* 1.000 113 0% 71 11.3% 8 25% - - - HMMPfam_BicD SLC38A1 81539 genome.wustl.edu 37 12 46622974 46622974 + Silent SNP G G A rs138484624 by1000genomes TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001077484.1 -1 validated p.L92 0.400 85 0% 77 44.2% 21 47.6% - - - HMMPfam_Aa_trans VDR 7421 genome.wustl.edu 37 12 48258886 48258886 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_000376.2 -1 reviewed p.R74H 1.000 134 0% 94 38.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain) KANSL2 54934 genome.wustl.edu 37 12 49054257 49054257 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_017822.3 -1 validated p.P373 0.968 118 0% 87 32.2% 25 28% - - - NULL POU6F1 5463 genome.wustl.edu 37 12 51583975 51583975 + RNA SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NR_026893.1 -1 validated NULL 0.029 36 0% 34 20.6% 3 33.3% - - - - KRT5 3852 genome.wustl.edu 37 12 52911411 52911411 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_000424.3 -1 reviewed p.R352H 1.000 209 0.5% 198 46% 224 73.6% possibly_damaging(0.925) deleterious(0.05) deleterious(0.719) HMMPfam_Filament ESPL1 9700 genome.wustl.edu 37 12 53683909 53683909 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_012291.4 +1 validated p.P1718 0.996 169 0% 106 33% 17 47% - - - HMMPfam_Peptidase_C50 TARBP2 6895 genome.wustl.edu 37 12 53898551 53898551 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_134323.1 +1 reviewed p.R189C 1.000 152 0% 125 42.4% 25 40% benign(0.358) tolerated(0.14) neutral(0.363) HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like ITGA5 3678 genome.wustl.edu 37 12 54793460 54793460 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002205.2 -1 reviewed p.H937R 1.000 93 1.1% 74 54.1% 48 0% benign(0.002) tolerated(1) - superfamily_SSF69179 ZC3H10 84872 genome.wustl.edu 37 12 56514988 56514988 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_032786.1 +1 provisional p.C214 1.000 47 0% 42 50% 6 66.6% - - - NULL ZBTB39 9880 genome.wustl.edu 37 12 57396573 57396573 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014830.1 -1 provisional p.P710L 0.347 89 0% 84 44% 4 25% benign(0) deleterious(0.04) neutral(0.349) NULL KCNC2 3747 genome.wustl.edu 37 12 75444255 75444255 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_139137.2 -1 reviewed p.K510N 1.000 216 0% 147 50.3% 0 - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL RASSF9 9182 genome.wustl.edu 37 12 86198606 86198606 + Silent SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005447.3 -1 reviewed p.I394 0.000 175 0% 151 33.8% 4 75% - - - NULL APPL2 55198 genome.wustl.edu 37 12 105569825 105569825 + Silent SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018171.3 -1 validated p.I616 1.000 195 0% 157 49% 23 34.7% - - - superfamily_SSF50729 FICD 11153 genome.wustl.edu 37 12 108912635 108912635 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_007076.2 +1 validated p.P254S 1.000 71 1.4% 45 46.7% 4 25% benign(0.004) tolerated(0.66) neutral(0.003) NULL CAMKK2 10645 genome.wustl.edu 37 12 121712185 121712185 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006549.3 -1 reviewed p.M49V 1.000 21 0% 12 33.3% 8 37.5% benign(0.001) deleterious(0) neutral(0.445) NULL SETD1B 23067 genome.wustl.edu 37 12 122252457 122252457 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015048.1 +1 validated p.T779M 0.997 14 0% 12 41.7% 4 75% unknown(0) - - NULL DHX37 57647 genome.wustl.edu 37 12 125465270 125465272 + In_Frame_Del DEL CTC CTC - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_032656.2 -1 reviewed p.E168in_frame_del 0.904:0.904:0.905 - - - - - - - - - NULL RIMBP2 23504 genome.wustl.edu 37 12 130919413 130919413 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015347.4 -1 validated p.S690G 1.000 43 0% 27 40.7% 1 0% benign(0.122) deleterious(0.02) neutral(0.393) NULL MMP17 4326 genome.wustl.edu 37 12 132329684 132329684 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_016155.4 +1 reviewed p.H330 0.887 129 0% 84 35.7% 2 50% - - - superfamily_Hemopexin-like domain EP400 57634 genome.wustl.edu 37 12 132446086 132446086 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015409.3 +1 validated p.A308T 0.000 60 0% 58 46.6% 6 50% unknown(0) - - NULL GOLGA3 2802 genome.wustl.edu 37 12 133365651 133365651 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005895.3 -1 reviewed p.A925S 0.014 48 0% 32 21.9% 25 12% benign(0.167) tolerated(0.13) neutral(0.268) superfamily_Prefoldin XPO4 64328 genome.wustl.edu 37 13 21364662 21364662 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_022459.4 -1 validated p.A952V 1.000 161 0% 129 37.2% 12 25% benign(0.173) deleterious(0.04) neutral(0.365) superfamily_ARM-type_fold CENPJ 55835 genome.wustl.edu 37 13 25484153 25484154 + Frame_Shift_Del DEL CT CT - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018451.3 -1 reviewed p.R213fs 0.000:0.001 - - - - - - - - - NULL BRCA2 675 genome.wustl.edu 37 13 32929040 32929040 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_000059.3 +1 reviewed p.T2350 0.009 199 0% 159 26.4% 3 0% - - - NULL NBEA 26960 genome.wustl.edu 37 13 36129231 36129231 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015678.4 +1 validated p.T2305N 1.000 170 0% 136 39.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Beach,superfamily_BEACH domain,superfamily_ARM repeat ZC3H13 23091 genome.wustl.edu 37 13 46549808 46549809 + Frame_Shift_Del DEL CT CT - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015070.3 -1 validated p.R693fs 0.991:0.444 - - - - - - - - - NULL PROZ 8858 genome.wustl.edu 37 13 113826047 113826047 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003891.1 +1 provisional p.G277 0.024 40 0% 36 38.9% 1 100% - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases PCID2 55795 genome.wustl.edu 37 13 113832554 113832554 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001127202.1 -1 validated p.V386 1.000 221 0% 184 41.8% 93 40.8% - - - HMMPfam_PCI OR4Q3 441669 genome.wustl.edu 37 14 20216186 20216186 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_172194.1 +1 provisional p.V200 0.949 495 0% 389 27.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 SUPT16H 11198 genome.wustl.edu 37 14 21820957 21820957 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_007192.3 -1 reviewed p.E1007K 1.000 181 0% 155 35.5% 129 50.3% benign(0.224) tolerated(0.23) neutral(0.064) NULL SUPT16H 11198 genome.wustl.edu 37 14 21829029 21829029 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_007192.3 -1 reviewed p.G678C 1.000 173 0% 165 46.7% 71 47.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SPT16 ENSG00000246609 0 genome.wustl.edu 37 14 24036171 24036171 + RNA SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000502153 +1 known NULL 0.000 17 0% 13 46.2% 3 0% - - - - BAZ1A 11177 genome.wustl.edu 37 14 35233936 35233936 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_013448.2 -1 validated p.D1251 1.000 397 0% 383 25.6% 38 28.9% - - - NULL BAZ1A 11177 genome.wustl.edu 37 14 35264955 35264955 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_013448.2 -1 validated p.R382H 1.000 280 0% 247 33.2% 5 40% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL BAZ1A 11177 genome.wustl.edu 37 14 35270392 35270392 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_013448.2 -1 validated p.N290S 0.000 173 0% 185 33.5% 7 28.5% benign(0) tolerated(1) - NULL C14orf183 196913 genome.wustl.edu 37 14 50559312 50559312 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001014830.1 -1 provisional p.R17H 0.004 162 0% 137 33.6% 0 - unknown(0) - - NULL STYX 6815 genome.wustl.edu 37 14 53223315 53223315 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001130701.1 +1 validated p.R97C 1.000 79 0% 80 48.7% 14 42.8% benign(0.023) deleterious(0.03) neutral(0.365) HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II ARID4A 5926 genome.wustl.edu 37 14 58768334 58768334 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002892.3 +1 reviewed p.D15N 1.000 137 0% 121 41.3% 2 50% benign(0.188) deleterious(0) neutral(0.462) NULL KIAA0586 9786 genome.wustl.edu 37 14 59006831 59006831 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014749.3 +1 validated p.P1415L 0.010 197 0.5% 161 40.4% 14 28.5% benign(0) deleterious(0) neutral(0.445) NULL SYT16 83851 genome.wustl.edu 37 14 62547848 62547848 + Silent SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_031914.2 +1 validated p.A430 0.703 72 0% 49 40.8% 0 - - - - HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB PCNX 22990 genome.wustl.edu 37 14 71556058 71556058 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014982.2 +1 validated p.Q1863R 1.000 238 0% 200 42.5% 8 50% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Pecanex_C C14orf43 91748 genome.wustl.edu 37 14 74188000 74188000 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001043318.1 -1 validated p.S979 1.000 126 0% 97 41.2% 25 32% - - - NULL COQ6 51004 genome.wustl.edu 37 14 74417121 74417121 + Missense_Mutation SNP G G C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_182476.1 +1 validated p.G29A 0.006 37 0% 31 25.8% 19 31.5% benign(0.026) tolerated(0.24) neutral(0.038) NULL ANGEL1 23357 genome.wustl.edu 37 14 77270183 77270183 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015305.3 -1 validated p.L485M 1.000 58 0% 66 36.4% 17 35.2% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos NRXN3 9369 genome.wustl.edu 37 14 80328223 80328223 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004796.4 +1 reviewed p.N1034 1.000 48 0% 86 44.2% 8 62.5% - - - NULL GOLGA5 9950 genome.wustl.edu 37 14 93264239 93264239 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005113.2 +1 reviewed p.S153P 0.928 70 0% 63 44.4% 27 40.7% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL ASB2 51676 genome.wustl.edu 37 14 94405707 94405707 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_016150.3 -1 reviewed p.R407H 0.997 23 0% 16 25% 8 25% possibly_damaging(0.836) deleterious(0.04) deleterious(0.668) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat MIR134 406924 genome.wustl.edu 37 14 101521086 101521086 + RNA SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000385258 +1 known NULL 1.000 127 0% 93 37.6% 0 - - - - - DYNC1H1 1778 genome.wustl.edu 37 14 102506035 102506035 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001376.4 +1 reviewed p.L3886 1.000 110 0% 71 42.3% 134 41% - - - NULL ZNF839 55778 genome.wustl.edu 37 14 102807872 102807872 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018335.3 +1 validated p.R714G 0.000 110 0% 97 41.2% 13 53.8% benign(0.007) tolerated(0.06) neutral(0.323) NULL TECPR2 9895 genome.wustl.edu 37 14 102965368 102965372 + Frame_Shift_Del DEL CACCA CACCA - rs10531276 byCluster;by1000genomes TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 CACCA CACCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000380088 +1 known p.T672fs 0.001:0.000:0.001:0.000:0.000 - - - - - - - - - NULL AHNAK2 113146 genome.wustl.edu 37 14 105417663 105417663 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_138420.2 -1 validated p.D1375E 0.000 132 0% 140 42.1% 2 0% benign(0.03) tolerated(0.18) neutral(0.058) NULL AHNAK2 113146 genome.wustl.edu 37 14 105420707 105420707 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_138420.2 -1 validated p.P361S 0.000 80 0% 75 42.7% 6 100% benign(0.014) tolerated(0.58) neutral(0.005) NULL TMEM121 80757 genome.wustl.edu 37 14 105995686 105995686 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_025268.2 +1 provisional p.R172H 0.983 13 0% 22 59.1% 5 20% possibly_damaging(0.808) deleterious(0.02) deleterious(0.687) NULL IGHV3-53 28420 genome.wustl.edu 37 14 107048957 107048957 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000390627 -1 known p.V21 0.032 164 0% 180 43.3% 10 0% - - - HMMPfam_V-set,superfamily_Immunoglobulin ENSG00000215407 0 genome.wustl.edu 37 15 20450257 20450257 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000400226 -1 known p.Q355H 0.999 225 0% 205 11.7% 4 0% - - - HMMPfam_BRO1 OR4M2 390538 genome.wustl.edu 37 15 22369463 22369463 + Silent SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001004719.2 +1 validated p.V296 0.995 357 0% 251 19.9% 0 - - - - superfamily_Family A G protein-coupled receptor-like C15orf2 23742 genome.wustl.edu 37 15 24922980 24922980 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018958.2 +1 reviewed p.P656S 0.001 225 0% 212 47.2% 0 - benign(0) - - NULL ENSG00000206149 0 genome.wustl.edu 37 15 28901025 28901025 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000383034 +1 known p.I92 0.964 92 0% 97 43.3% 4 50% - - - NULL FSIP1 161835 genome.wustl.edu 37 15 40068661 40068661 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_152597.4 -1 validated p.P22L 0.723 312 0% 331 42.6% 0 - probably_damaging(0.998) tolerated(0.39) deleterious(0.490) NULL RPAP1 26015 genome.wustl.edu 37 15 41827750 41827750 + Silent SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015540.2 -1 reviewed p.P167 0.000 160 0% 120 45.8% 16 62.5% - - - NULL ADAL 161823 genome.wustl.edu 37 15 43632501 43632501 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001012969.2 +1 validated p.G98 0.999 129 0% 100 40% 1 100% - - - HMMPfam_A_deaminase,superfamily_SSF51556 ZSCAN29 146050 genome.wustl.edu 37 15 43653792 43653792 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_152455.3 -1 validated p.C680R 1.000 203 0% 202 45% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PRTG 283659 genome.wustl.edu 37 15 55965613 55965613 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_173814.4 -1 validated p.S603L 0.998 112 0% 85 51.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_fn3,superfamily_FN_III-like ALDH1A2 8854 genome.wustl.edu 37 15 58357768 58357768 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003888.2 -1 reviewed p.P27 1.000 59 0% 33 30.3% 2 0% - - - superfamily_ALDH-like MYO1E 4643 genome.wustl.edu 37 15 59553643 59553643 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004998.2 -1 validated p.K71N 1.000 165 0% 144 43.1% 32 21.8% probably_damaging(0.972) tolerated(0.15) deleterious(0.655) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases DPP8 54878 genome.wustl.edu 37 15 65782558 65782558 + Silent SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_197960.2 -1 reviewed p.S281 1.000 240 0% 264 45.1% 5 40% - - - HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain THSD4 79875 genome.wustl.edu 37 15 72050367 72050367 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_024817.2 +1 provisional p.G848R 1.000 100 0% 95 38.9% 2 50% probably_damaging(1) tolerated(0.29) deleterious(0.529) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat HCN4 10021 genome.wustl.edu 37 15 73616475 73616475 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005477.2 -1 reviewed p.R700* 1.000 53 0% 29 37.9% 0 - - - - HMMSmart_cNMP,superfamily_cNMP_binding PML 5371 genome.wustl.edu 37 15 74327546 74327560 + In_Frame_Del DEL TCCTCGCCAGCCCAC TCCTCGCCAGCCCAC - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 TCCTCGCCAGCCCAC TCCTCGCCAGCCCAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_033239.2 +1 reviewed p.AHSSP585in_frame_del 0.004:0.012:0.015:0.009:0.001:0.000:0.000:0.001:0.001:0.000:0.001:0.002:0.001:0.000:0.000 - - - - - - - - - NULL ISLR2 57611 genome.wustl.edu 37 15 74425467 74425467 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001130136.1 +1 validated p.A124 0.793 37 0% 41 39% 18 44.4% - - - HMMPfam_LRR_1,superfamily_SSF52058 NEIL1 79661 genome.wustl.edu 37 15 75641589 75641589 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_024608.2 +1 validated p.V115M 1.000 22 0% 16 37.5% 2 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Fapy_DNA_glyco,superfamily_N-terminal domain of MutM-like DNA repair proteins MAN2C1 4123 genome.wustl.edu 37 15 75652021 75652021 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006715.2 -1 validated p.L630 0.995 109 0% 50 36% 37 29.7% - - - HMMPfam_Glyco_hydro_38C SIN3A 25942 genome.wustl.edu 37 15 75693144 75693144 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001145357.1 -1 reviewed p.G555V 1.000 172 0% 166 47% 16 56.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HDAC_interact,HMMSmart_HDAC_interact SIN3A 25942 genome.wustl.edu 37 15 75705360 75705360 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001145357.1 -1 reviewed p.R167H 1.000 228 0% 227 40.1% 23 56.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAH,superfamily_PAH TBC1D2B 23102 genome.wustl.edu 37 15 78305454 78305454 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_144572.1 -1 validated p.A661T 0.001 232 0.4% 207 46.9% 3 33.3% benign(0) tolerated(0.29) neutral(0.029) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p ALPK3 57538 genome.wustl.edu 37 15 85370742 85370742 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_020778.4 +1 validated p.Q272 1.000 95 0% 69 55.1% 3 0% - - - superfamily_Immunoglobulin FES 2242 genome.wustl.edu 37 15 91430485 91430485 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002005.3 +1 reviewed p.R185C 1.000 33 0% 26 57.7% 22 40.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LRRC28 123355 genome.wustl.edu 37 15 99926276 99926276 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_144598.2 +1 provisional p.Q358R 1.000 217 0% 208 35.6% 17 29.4% benign(0.348) tolerated(0.09) neutral(0.406) NULL ASB7 140460 genome.wustl.edu 37 15 101169707 101169707 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_198243.2 +1 reviewed p.R93W 1.000 73 0% 39 30.8% 6 66.6% possibly_damaging(0.8) deleterious(0.05) deleterious(0.646) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat C16orf11 146325 genome.wustl.edu 37 16 613623 613623 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_145270.1 +1 predicted p.A110V 0.001 36 0% 27 48.1% 0 - probably_damaging(0.957) deleterious(0.04) deleterious(0.750) NULL RHOT2 89941 genome.wustl.edu 37 16 721776 721776 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_138769.1 +1 provisional p.D317N 1.000 27 0% 18 22.2% 88 25% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_EF_HAND_1,superfamily_EF-hand CCDC78 124093 genome.wustl.edu 37 16 774448 774448 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001031737.2 -1 validated p.A276E 0.006 27 0% 27 40.7% 1 0% possibly_damaging(0.887) tolerated(0.15) deleterious(0.588) NULL CHTF18 63922 genome.wustl.edu 37 16 842299 842299 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_022092.2 +1 validated p.G426 0.000 74 0% 49 10.2% 23 13% - - - HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases SSTR5 6755 genome.wustl.edu 37 16 1129206 1129206 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001053.3 +1 reviewed p.R113H 1.000 39 0% 34 58.8% 0 - possibly_damaging(0.922) deleterious(0.04) deleterious(0.720) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like IFT140 9742 genome.wustl.edu 37 16 1636257 1636257 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014714.3 -1 validated p.T343 0.006 110 0% 75 25.3% 14 42.8% - - - HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase RPL3L 6123 genome.wustl.edu 37 16 1997346 1997346 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005061.2 -1 reviewed p.H179 1.000 80 0% 57 40.4% 0 - - - - HMMPfam_Ribosomal_L3,superfamily_Translat_factor PKD1 5310 genome.wustl.edu 37 16 2165512 2165512 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001009944.2 -1 reviewed p.P655L 0.016 29 0% 16 50% 14 7.1% benign(0.023) deleterious(0.01) neutral(0.407) NULL SRRM2 23524 genome.wustl.edu 37 16 2813939 2813939 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_016333.3 +1 validated p.R1137M 0.283 71 0% 63 46% 54 51.8% unknown(0) - - NULL TCEB2 6923 genome.wustl.edu 37 16 2822078 2822078 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_207013.1 -1 reviewed p.I90 0.536 114 0% 108 40.7% 1258 46.9% - - - superfamily_SSF54236 PMM2 5373 genome.wustl.edu 37 16 8895686 8895686 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_000303.2 +1 reviewed p.Q33* 0.727 172 0% 149 39.6% 21 47.6% - - - HMMPfam_PMM,superfamily_HAD-like CIITA 4261 genome.wustl.edu 37 16 11001003 11001003 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_000246.3 +1 reviewed p.R552C 0.987 20 0% 13 38.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NACHT C16orf62 57020 genome.wustl.edu 37 16 19580908 19580908 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_020314.4 +1 predicted p.A94T 0.004 50 0% 39 46.2% 11 27.2% benign(0.126) tolerated(0.1) neutral(0.297) NULL GGA2 23062 genome.wustl.edu 37 16 23486299 23486299 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015044.4 -1 reviewed p.P459L 0.170 69 0% 67 35.8% 31 48.3% benign(0.15) deleterious(0.02) neutral(0.396) NULL RBBP6 5930 genome.wustl.edu 37 16 24581341 24581343 + In_Frame_Del DEL GAA GAA - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006910.4 +1 reviewed p.K1112in_frame_del 0.465:0.954:0.962 - - - - - - - - - NULL ARHGAP17 55114 genome.wustl.edu 37 16 24931538 24931538 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000457275 -1 known p.L842P 0.995 244 0% 213 37.6% 67 47.7% - - - NULL GTF3C1 2975 genome.wustl.edu 37 16 27503962 27503962 + Silent SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001520.3 -1 validated p.T983 0.339 224 0% 174 13.2% 24 20.8% - - - NULL SULT1A1 6817 genome.wustl.edu 37 16 28618322 28618322 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001055.2 -1 reviewed p.P150H 1.000 553 0% 571 10.9% 21 28.5% probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases TUFM 7284 genome.wustl.edu 37 16 28854394 28854394 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003321.4 -1 reviewed p.R424C 1.000 100 0% 93 18.3% 961 11.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GTP_EFTU_D3,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain NFATC2IP 84901 genome.wustl.edu 37 16 28967303 28967303 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_032815.3 +1 validated p.L195M 0.000 138 0% 98 39.8% 18 50% benign(0.029) tolerated(0.21) neutral(0.045) NULL KCTD13 253980 genome.wustl.edu 37 16 29918231 29918231 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_178863.2 -1 provisional p.E318K 0.981 112 0% 90 32.2% 56 51.7% possibly_damaging(0.895) deleterious(0.01) deleterious(0.758) NULL ITGAL 3683 genome.wustl.edu 37 16 30507445 30507445 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002209.2 +1 reviewed p.Q511* 0.937 88 0% 53 60.4% 4 0% - - - HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain FBRS 64319 genome.wustl.edu 37 16 30676629 30676629 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001105079.1 +1 validated p.P17 1.000 13 0% 14 57.1% 35 25.7% - - - NULL FBRS 64319 genome.wustl.edu 37 16 30681567 30681567 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000395073 +1 known p.E382G 0.790 42 0% 43 37.2% 41 39% unknown(0) - - NULL RNF40 9810 genome.wustl.edu 37 16 30783493 30783493 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014771.2 +1 reviewed p.E937D 1.000 52 0% 45 31.1% 150 24.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_RING/U-box ZNF668 79759 genome.wustl.edu 37 16 31075584 31075584 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_024706.4 -1 validated p.A66V 0.996 120 0% 109 35.8% 20 30% possibly_damaging(0.49) deleterious(0) deleterious(0.608) NULL ZNF646 9726 genome.wustl.edu 37 16 31091496 31091496 + Splice_Site SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000358046 +1 known e2+1 0.000 29 0% 24 33.3% 13 38.4% - - - - C16orf58 64755 genome.wustl.edu 37 16 31508226 31508226 + Missense_Mutation SNP C C T rs185844277 by1000genomes TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_022744.2 -1 validated p.V216M 0.917 45 0% 35 54.3% 81 45.6% benign(0) tolerated(0.2) neutral(0.049) HMMPfam_DUF647 ZNF423 23090 genome.wustl.edu 37 16 49672595 49672595 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015069.2 -1 reviewed p.H156 1.000 68 0% 42 11.9% 17 35.2% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PAPD5 64282 genome.wustl.edu 37 16 50250026 50250026 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001040284.2 +1 validated p.P60S 1.000 228 0.4% 197 40.1% 7 42.8% probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_NTP_transf_2,superfamily_Nucleotidyltransferase ADCY7 113 genome.wustl.edu 37 16 50345992 50345994 + In_Frame_Del DEL AAG AAG - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001114.3 +1 reviewed p.K833in_frame_del 1.000:1.000:0.999 - - - - - - - - - NULL RBL2 5934 genome.wustl.edu 37 16 53514572 53514572 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005611.3 +1 validated p.G992V 0.903 105 0% 95 33.7% 46 56.5% possibly_damaging(0.804) deleterious(0.03) deleterious(0.667) HMMPfam_RB_B,superfamily_Cyclin_like SLC6A2 6530 genome.wustl.edu 37 16 55733481 55733481 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001043.3 +1 reviewed p.S502N 1.000 216 0% 157 42% 1 100% benign(0.364) tolerated(0.11) neutral(0.388) HMMPfam_SNF NUP93 9688 genome.wustl.edu 37 16 56867238 56867238 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014669.3 +1 validated p.R486H 1.000 110 0% 121 43% 58 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Nic96 NLRC5 84166 genome.wustl.edu 37 16 57059917 57059917 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_032206.3 +1 validated p.C354 0.889 47 0% 27 29.6% 2 0% - - - HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases CES3 23491 genome.wustl.edu 37 16 66998317 66998317 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_024922.4 +1 validated p.L206F 0.001 140 0% 114 28.1% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases EDC4 23644 genome.wustl.edu 37 16 67911495 67911495 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014329.3 +1 validated p.P242H 0.921 134 0% 93 39.8% 34 29.4% possibly_damaging(0.442) deleterious(0.01) deleterious(0.550) superfamily_WD40 repeat-like SLC12A4 6560 genome.wustl.edu 37 16 67984391 67984391 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005072.4 -1 validated p.G487D 1.000 83 0% 78 37.2% 40 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AA_permease MTSS1L 92154 genome.wustl.edu 37 16 70712236 70712236 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_138383.2 -1 provisional p.T181 0.987 51 0% 39 38.5% 54 53.7% - - - HMMPfam_IMD VAC14 55697 genome.wustl.edu 37 16 70721926 70721926 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018052.3 -1 validated p.L752 1.000 214 0% 158 38% 99 51.5% - - - NULL ADAT1 23536 genome.wustl.edu 37 16 75651070 75651070 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_012091.2 -1 reviewed p.I132V 0.002 256 0% 208 39.4% 10 50% benign(0) tolerated(0.82) neutral(0.001) HMMPfam_A_deamin,HMMSmart_SM00552 TAF1C 9013 genome.wustl.edu 37 16 84215393 84215393 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005679.2 -1 reviewed p.Q331H 1.000 103 0% 85 47.1% 15 26.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FBXO31 79791 genome.wustl.edu 37 16 87367807 87367807 + Missense_Mutation SNP C C T rs187880966 by1000genomes TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_024735.3 -1 validated p.R361H 0.641 33 0% 14 78.6% 11 18.1% benign(0.036) tolerated(0.1) neutral(0.288) NULL CDH15 1013 genome.wustl.edu 37 16 89251661 89251661 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004933.2 +1 reviewed p.Q195* 0.995 35 0% 25 44% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin FAM157C 100132055 genome.wustl.edu 37 16 90173023 90173023 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea XM_001714162.2 +1 model p.W270* 0.000 39 0% 24 37.5% 0 - - - - NULL YWHAE 7531 genome.wustl.edu 37 17 1248584 1248588 + RNA DEL AAAAA AAAAA - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 AAAAA AAAAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NR_024058.1 -1 reviewed NULL 1.000:1.000:1.000:1.000:0.995 - - - - - - - - - - KIAA0664 23277 genome.wustl.edu 37 17 2595865 2595865 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015229.3 -1 validated p.D1107 0.998 28 0% 15 46.7% 102 45% - - - superfamily_SSF48452 ACAP1 9744 genome.wustl.edu 37 17 7245318 7245318 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014716.3 +1 validated p.A55T 0.004 124 0% 96 47.9% 2 0% benign(0) tolerated(1) - NULL NLGN2 57555 genome.wustl.edu 37 17 7317803 7317803 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_020795.2 +1 reviewed p.G217W 1.000 87 0% 81 16% 20 15% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_COesterase,superfamily_SSF53474 MYH4 4622 genome.wustl.edu 37 17 10356556 10356556 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_017533.2 -1 validated p.Q1008 1.000 457 0% 427 41% 0 - - - - NULL ZNF287 57336 genome.wustl.edu 37 17 16467083 16467083 + Silent SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_020653.2 -1 validated p.L186 1.000 132 0% 116 43.1% 10 60% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) MYO15A 51168 genome.wustl.edu 37 17 18058475 18058475 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_016239.3 +1 reviewed p.R2759Q 1.000 70 0% 55 54.5% 0 - probably_damaging(0.999) - - NULL EVPLL 645027 genome.wustl.edu 37 17 18284264 18284264 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001145127.1 +1 validated p.A5T 0.996 114 0% 77 36.4% 1 0% benign(0.223) deleterious(0) neutral(0.467) NULL AKAP10 11216 genome.wustl.edu 37 17 19845198 19845198 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_007202.2 -1 reviewed p.Q334H 1.000 126 0% 123 52.8% 9 11.1% benign(0.005) tolerated(0.25) neutral(0.037) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS KSR1 8844 genome.wustl.edu 37 17 25909963 25909963 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014238.1 +1 validated p.P134L 1.000 37 0% 22 59.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NEK8 284086 genome.wustl.edu 37 17 27062353 27062353 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_178170.2 +1 reviewed p.Y194 0.744 121 0% 79 41.8% 4 25% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MYO18A 399687 genome.wustl.edu 37 17 27442683 27442683 + Silent SNP T T A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_078471.3 -1 validated p.T742 1.000 60 0% 36 30.6% 4 25% benign(0.001) deleterious(0) neutral(0.445) HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000226049 0 genome.wustl.edu 37 17 32364961 32364961 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000430493 -1 known p.S586 1.000 323 0.6% 258 41.5% 11 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DUSP14 11072 genome.wustl.edu 37 17 35872763 35872765 + In_Frame_Del DEL ACA ACA - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_007026.2 +1 validated p.N131in_frame_del 1.000:1.000:0.995 - - - - - - - - - HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II MED24 9862 genome.wustl.edu 37 17 38178256 38178256 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014815.3 -1 reviewed p.R859* 1.000 115 0% 99 41.4% 26 30.7% - - - NULL MED24 9862 genome.wustl.edu 37 17 38179577 38179578 + Frame_Shift_Del DEL TT TT - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014815.3 -1 reviewed p.K686fs 1.000:1.000 - - - - - - - - - NULL KAT2A 2648 genome.wustl.edu 37 17 40270019 40270019 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_021078.2 -1 validated p.A399 0.000 46 0% 39 43.6% 35 42.8% - - - NULL ATP6V0A1 535 genome.wustl.edu 37 17 40653315 40653315 + Missense_Mutation SNP A A C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001130020.1 +1 reviewed p.K673T 1.000 428 0.2% 341 46.6% 19 52.6% benign(0.233) deleterious(0.03) neutral(0.388) HMMPfam_V_ATPase_I PLEKHH3 79990 genome.wustl.edu 37 17 40823041 40823041 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_024927.4 -1 validated p.L464 0.977 13 0% 14 50% 31 48.3% - - - HMMSmart_SM00295 MAPT 4137 genome.wustl.edu 37 17 44060711 44060711 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001123066.3 +1 validated p.G181S 0.013 17 0.000 9 0.667 0 - benign(0) tolerated(1) - NULL LRRC46 90506 genome.wustl.edu 37 17 45914155 45914155 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_033413.3 +1 validated p.R212M 0.013 52 0% 22 36.4% 5 60% possibly_damaging(0.66) deleterious(0.01) deleterious(0.639) NULL SEPT4 5414 genome.wustl.edu 37 17 56599294 56599294 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_080415.1 -1 reviewed p.P258 0.202 161 0% 124 30.6% 5 20% - - - NULL SMG8 55181 genome.wustl.edu 37 17 57288374 57288374 + Missense_Mutation SNP A A T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018149.6 +1 validated p.Q321L 1.000 86 0% 72 40.3% 12 41.6% benign(0.05) tolerated(0.68) neutral(0.005) HMMPfam_DUF2146 TLK2 11011 genome.wustl.edu 37 17 60601691 60601691 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006852.3 +1 validated p.P121L 1.000 71 0% 78 38.5% 5 0% benign(0.023) tolerated(0.11) neutral(0.273) NULL MRC2 9902 genome.wustl.edu 37 17 60768361 60768361 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006039.3 +1 validated p.G1355E 0.998 33 0% 20 20% 56 12.5% possibly_damaging(0.717) tolerated(0.32) neutral(0.284) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like ERN1 2081 genome.wustl.edu 37 17 62133184 62133184 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001433.3 -1 reviewed p.G508D 0.001 26 0% 25 44% 2 50% benign(0.139) tolerated(0.23) neutral(0.054) NULL DDX5 1655 genome.wustl.edu 37 17 62496268 62496268 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004396.3 -1 validated p.Y540H 1.000 154 0% 135 22.2% 607 21.4% benign(0.038) tolerated(0.12) neutral(0.263) NULL LOC100289243 100289243 genome.wustl.edu 37 17 62746663 62746663 + Silent SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea XM_002343577.1 +1 model p.P97 1.000 114 0% 105 56.2% 10 40% - - - HMMPfam_Sec63,HMMSmart_SM00611 MRPS7 51081 genome.wustl.edu 37 17 73261847 73261847 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015971.3 +1 reviewed p.C191Y 1.000 76 0% 57 36.8% 160 48.7% probably_damaging(0.953) deleterious(0) deleterious(0.841) HMMPfam_Ribosomal_S7,superfamily_Ribosomal protein S7 LLGL2 3993 genome.wustl.edu 37 17 73570746 73570746 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001031803.1 +1 reviewed p.G1018* 0.995 62 0% 40 30% 132 31% - - - NULL UNC13D 201294 genome.wustl.edu 37 17 73836160 73836160 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_199242.2 -1 reviewed p.S297N 1.000 82 0% 58 53.4% 27 29.6% benign(0.02) tolerated(0.65) neutral(0.004) NULL QRICH2 84074 genome.wustl.edu 37 17 74271974 74271974 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_032134.1 -1 provisional p.P1637L 0.758 133 0% 87 36.8% 3 33.3% unknown(0) - - NULL CYGB 114757 genome.wustl.edu 37 17 74524663 74524663 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_134268.3 -1 validated p.P190 0.033 100 0% 96 44.8% 44 47.7% - - - NULL TBC1D16 125058 genome.wustl.edu 37 17 77918743 77918743 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_019020.2 -1 provisional p.A624 0.006 24 0% 17 47.1% 51 56.8% - - - HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p ASPSCR1 79058 genome.wustl.edu 37 17 79954420 79954420 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_024083.2 +1 reviewed p.D211N 0.017 35 0% 40 30% 33 42.4% unknown(0) tolerated(0.64) - NULL HEXDC 284004 genome.wustl.edu 37 17 80400367 80400367 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_173620.2 +1 validated p.A553T 0.000 24 0% 24 54.2% 14 42.8% unknown(0) - - NULL THOC1 9984 genome.wustl.edu 37 18 259191 259191 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005131.2 -1 validated p.S170F 1.000 68 0% 69 27.5% 22 63.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL LAMA1 284217 genome.wustl.edu 37 18 6959370 6959370 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005559.2 -1 validated p.A2583V 0.030 107 0% 99 50.5% 14 42.8% possibly_damaging(0.685) tolerated(0.14) deleterious(0.494) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_1 PPP4R1 9989 genome.wustl.edu 37 18 9559585 9559585 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001042388.1 -1 validated p.A620 0.394 71 0% 43 44.2% 53 32% - - - superfamily_ARM repeat RBBP8 5932 genome.wustl.edu 37 18 20576374 20576374 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002894.2 +1 reviewed p.P659 0.998 150 0% 141 38.3% 28 39.2% - - - NULL DSG2 1829 genome.wustl.edu 37 18 29116255 29116255 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001943.3 +1 reviewed p.T505I 0.000 116 0% 79 39.2% 16 68.7% benign(0.186) tolerated(0.07) neutral(0.337) superfamily_Cadherin SLC39A6 25800 genome.wustl.edu 37 18 33706653 33706653 + Silent SNP T T A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_012319.3 -1 validated p.S106 0.637 490 0% 448 43.3% 58 44.8% - - - NULL ZADH2 284273 genome.wustl.edu 37 18 72913821 72913821 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_175907.4 -1 validated p.P228 0.854 109 0% 83 41% 33 39.3% - - - HMMPfam_ADH_zinc_N,superfamily_NAD(P)-binding Rossmann-fold domains ZNF516 9658 genome.wustl.edu 37 18 74091839 74091839 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000443185 -1 known p.P744H 0.048 82 0% 52 50% 14 50% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL SHC2 25759 genome.wustl.edu 37 19 422180 422180 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_012435.2 -1 validated p.P529H 1.000 28 0% 28 32.1% 9 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 GZMM 3004 genome.wustl.edu 37 19 549128 549128 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005317.2 +1 reviewed p.S185 0.002 17 0% 11 54.5% 2 0% - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases SBNO2 22904 genome.wustl.edu 37 19 1119605 1119605 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014963.2 -1 validated p.R428Q 0.999 37 2.7% 23 34.8% 28 21.4% possibly_damaging(0.573) deleterious(0.01) deleterious(0.602) NULL SBNO2 22904 genome.wustl.edu 37 19 1122248 1122248 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014963.2 -1 validated p.V347I 1.000 38 0% 53 39.6% 40 25% probably_damaging(0.994) tolerated(0.14) deleterious(0.702) superfamily_P-loop containing nucleoside triphosphate hydrolases TICAM1 148022 genome.wustl.edu 37 19 4817329 4817329 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_182919.2 -1 validated p.T354I 0.001 32 0% 35 45.7% 19 42.1% benign(0.378) tolerated(0.13) neutral(0.373) NULL PTPRS 5802 genome.wustl.edu 37 19 5221243 5221243 + Missense_Mutation SNP G G C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002850.3 -1 reviewed p.L1075V 0.043 140 0% 116 33.6% 73 57.5% benign(0) tolerated(1) - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III C3 718 genome.wustl.edu 37 19 6694620 6694620 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_000064.2 -1 reviewed p.E992D 1.000 50 0% 54 48.1% 12 0% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL PNPLA6 10908 genome.wustl.edu 37 19 7615453 7615453 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006702.4 +1 reviewed p.R627H 1.000 39 0% 36 41.7% 30 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding ELAVL1 1994 genome.wustl.edu 37 19 8046014 8046015 + Frame_Shift_Del DEL CT CT - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001419.2 -1 reviewed p.R76fs 1.000:1.000 - - - - - - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ACTL9 284382 genome.wustl.edu 37 19 8808272 8808272 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_178525.3 -1 validated p.Y260 0.994 17 0% 15 60% 0 - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain MUC16 94025 genome.wustl.edu 37 19 9090214 9090214 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_024690.2 -1 validated p.T534I 0.017 159 0% 166 41% 0 - unknown(0) - - NULL ZNF177 7730 genome.wustl.edu 37 19 9492292 9492292 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003451.2 +1 validated p.C269R 0.996 134 0% 133 12% 14 21.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 OLFM2 93145 genome.wustl.edu 37 19 9965446 9965446 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_058164.2 -1 provisional p.L261M 1.000 114 0% 71 50.7% 27 55.5% possibly_damaging(0.795) tolerated(0.22) neutral(0.340) HMMPfam_OLF,HMMSmart_OLF TYK2 7297 genome.wustl.edu 37 19 10476376 10476376 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003331.4 -1 reviewed p.P276 0.000 24 0% 23 39.1% 16 18.7% - - - NULL S1PR5 53637 genome.wustl.edu 37 19 10624499 10624499 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_030760.4 -1 validated p.A397T 0.018 19 0% 14 57.1% 0 - benign(0) deleterious(0) neutral(0.445) NULL CCDC151 115948 genome.wustl.edu 37 19 11537532 11537532 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_145045.4 -1 validated p.V229M 0.738 141 0% 122 42.6% 0 - possibly_damaging(0.585) deleterious(0.05) deleterious(0.547) NULL CC2D1A 54862 genome.wustl.edu 37 19 14024359 14024359 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_017721.4 +1 reviewed p.A219V 0.000 48 0% 37 43.2% 30 40% benign(0) tolerated(0.24) neutral(0.037) NULL ENSG00000248045 0 genome.wustl.edu 37 19 14281667 14281667 + RNA SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000498856 +1 novel NULL 0.000 37 0% 40 35% 0 - - - - - KCNN1 3780 genome.wustl.edu 37 19 18100609 18100609 + Silent SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002248.3 +1 reviewed p.R419 1.000 149 0% 117 13.7% 47 17% - - - HMMPfam_CaMBD,superfamily_Small-conductance potassium channel CRTC1 23373 genome.wustl.edu 37 19 18854924 18854924 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001098482.1 +1 validated p.G84R 1.000 197 0% 136 46.3% 0 - probably_damaging(0.998) tolerated(0.25) deleterious(0.511) NULL SUGP1 57794 genome.wustl.edu 37 19 19414828 19414828 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000334782 -1 known p.P188L 0.000 19 0% 18 44.4% 0 - unknown(0) tolerated(0.14) - NULL ZNF681 148213 genome.wustl.edu 37 19 23938266 23938266 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_138286.2 -1 validated p.N31D 0.438 163 0% 220 41.4% 0 - benign(0.001) tolerated(1) - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF507 22847 genome.wustl.edu 37 19 32844315 32844315 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001136156.1 +1 validated p.C193 0.451 75 1.3% 65 41.5% 2 100% - - - NULL WDR62 284403 genome.wustl.edu 37 19 36593649 36593649 + Silent SNP C C T rs187029707 by1000genomes TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001083961.1 +1 validated p.P1077 0.000 83 0% 61 47.5% 9 33.3% - - - NULL ZNF382 84911 genome.wustl.edu 37 19 37118346 37118346 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_032825.3 +1 validated p.G516D 1.000 103 0% 97 43.3% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_C2H2 and C2HC zinc fingers ZNF461 92283 genome.wustl.edu 37 19 37147375 37147375 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_153257.2 -1 validated p.R69S 0.020 203 0% 167 32.9% 3 100% benign(0.007) tolerated(0.27) neutral(0.034) NULL MAP4K1 11184 genome.wustl.edu 37 19 39108456 39108456 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_007181.4 -1 validated p.T27M 1.000 81 0% 84 39.3% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase CAPN12 147968 genome.wustl.edu 37 19 39233696 39233696 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_144691.3 -1 validated p.T95I 0.943 62 0% 55 40% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_C2,HMMSmart_CysPc,superfamily_SSF54001 PLEKHG2 64857 genome.wustl.edu 37 19 39909388 39909388 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000205135 +1 known p.A263V 0.994 90 0% 91 53.8% 35 51.4% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like FCGBP 8857 genome.wustl.edu 37 19 40392735 40392735 + Missense_Mutation SNP A A C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003890.2 -1 validated p.L2590R 1.000 163 0% 116 22.4% 1 0% unknown(0) deleterious(0) - HMMPfam_VWD,HMMSmart_VWD SPTBN4 57731 genome.wustl.edu 37 19 41009771 41009771 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_020971.2 +1 reviewed p.A466V 1.000 41 2.4% 33 36.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat CYP2S1 29785 genome.wustl.edu 37 19 41700566 41700566 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_030622.6 +1 reviewed p.S99G 0.034 211 0% 158 42.4% 2 100% possibly_damaging(0.519) tolerated(0.13) neutral(0.427) HMMPfam_p450,superfamily_Cytochrome P450 GRIK5 2901 genome.wustl.edu 37 19 42510901 42510901 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002088.3 -1 reviewed p.V645M 1.000 100 0% 62 46.8% 32 12.5% probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II ZNF574 64763 genome.wustl.edu 37 19 42585253 42585253 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_022752.5 +1 validated p.R832H 1.000 48 0% 38 23.7% 45 40% probably_damaging(0.996) tolerated(0.1) deleterious(0.748) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CIC 23152 genome.wustl.edu 37 19 42797952 42797952 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015125.3 +1 validated p.P1335H 1.000 42 0% 42 28.6% 60 25% probably_damaging(0.97) deleterious(0) deleterious(0.857) NULL PLAUR 5329 genome.wustl.edu 37 19 44174247 44174247 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002659.2 -1 reviewed p.L9P 0.392 54 0% 44 36.4% 13 23% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL KLC3 147700 genome.wustl.edu 37 19 45852088 45852088 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_177417.2 +1 reviewed p.T293M 1.000 85 0% 51 43.1% 7 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like PPP1R13L 10848 genome.wustl.edu 37 19 45900241 45900241 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001142502.1 -1 validated p.G92C 0.194 36 0% 35 40% 25 48% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL GLTSCR1 29998 genome.wustl.edu 37 19 48204763 48204763 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015711.3 +1 provisional p.S1258 0.955 22 0% 13 38.5% 9 55.5% - - - NULL SYNGR4 23546 genome.wustl.edu 37 19 48876797 48876797 + Silent SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_012451.2 +1 reviewed p.S39 0.954 96 0% 74 47.3% 0 - - - - HMMPfam_MARVEL IZUMO1 284359 genome.wustl.edu 37 19 49246748 49246748 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_182575.2 -1 validated p.N151 0.006 176 0% 146 41.1% 0 - - - - NULL PPFIA3 8541 genome.wustl.edu 37 19 49636561 49636561 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003660.2 +1 reviewed p.L365P 1.000 29 0% 28 57.1% 10 40% possibly_damaging(0.952) deleterious(0) deleterious(0.840) NULL TRPM4 54795 genome.wustl.edu 37 19 49675335 49675335 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_017636.2 +1 provisional p.E374K 1.000 149 0% 131 38.2% 45 37.7% possibly_damaging(0.873) tolerated(0.09) deleterious(0.635) NULL AP2A1 160 genome.wustl.edu 37 19 50285966 50285966 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014203.2 +1 reviewed p.R153H 1.000 43 0% 39 43.6% 92 39.1% possibly_damaging(0.861) deleterious(0) deleterious(0.778) HMMPfam_Adaptin_N,superfamily_ARM repeat MYBPC2 4606 genome.wustl.edu 37 19 50957549 50957549 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004533.3 +1 validated p.R646H 0.965 28 0% 28 46.4% 0 - benign(0.043) tolerated(0.05) neutral(0.348) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like ZNF841 284371 genome.wustl.edu 37 19 52570138 52570138 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001136499.1 -1 validated p.V333I 0.000 185 0% 196 35.2% 6 50% benign(0) tolerated(0.41) neutral(0.015) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF813 126017 genome.wustl.edu 37 19 53994705 53994705 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001004301.3 +1 validated p.G407R 1.000 117 0% 157 46.5% 5 40% possibly_damaging(0.739) deleterious(0.04) deleterious(0.619) superfamily_SSF57667 MBOAT7 79143 genome.wustl.edu 37 19 54677942 54677942 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_024298.3 -1 reviewed p.R405 0.282 90 0% 61 44.3% 143 32.1% - - - HMMPfam_MBOAT LILRB5 10990 genome.wustl.edu 37 19 54756388 54756388 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001081442.1 -1 reviewed p.A500V 0.025 178 0% 199 11.6% 5 20% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ZSCAN4 201516 genome.wustl.edu 37 19 58189814 58189814 + Silent SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_152677.2 +1 validated p.S281 0.000 123 0.8% 87 47.1% 0 - - - - NULL SLC27A5 10998 genome.wustl.edu 37 19 59022950 59022950 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_012254.2 -1 reviewed p.R125* 0.002 28 0% 28 21.4% 0 - - - - superfamily_Acetyl-CoA synthetase-like TGM6 343641 genome.wustl.edu 37 20 2384077 2384077 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_198994.2 +1 validated p.R342W 1.000 77 0% 54 55.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Transglut_core,HMMSmart_SM00460,superfamily_Cysteine proteinases RASSF2 9770 genome.wustl.edu 37 20 4771186 4771186 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014737.2 -1 reviewed p.R150C 0.996 81 0% 60 16.7% 2 0% possibly_damaging(0.938) deleterious(0.03) deleterious(0.748) NULL MCM8 84515 genome.wustl.edu 37 20 5974157 5974157 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_032485.4 +1 reviewed p.L749P 1.000 106 0% 83 31.3% 11 54.5% possibly_damaging(0.822) tolerated(0.06) deleterious(0.633) HMMPfam_MCM,HMMSmart_SM00350,superfamily_P-loop containing nucleoside triphosphate hydrolases PAX1 5075 genome.wustl.edu 37 20 21687618 21687618 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006192.3 +1 validated p.A277T 0.907 21 0% 13 61.5% 0 - benign(0.053) tolerated(0.31) neutral(0.030) NULL CTNNBL1 56259 genome.wustl.edu 37 20 36396382 36396382 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_030877.3 +1 reviewed p.R229Q 1.000 314 0% 233 38.2% 49 53% benign(0.19) tolerated(0.08) neutral(0.318) superfamily_ARM repeat EMILIN3 90187 genome.wustl.edu 37 20 39993741 39993741 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_052846.1 -1 validated p.A75V 0.880 189 0% 129 31% 1 0% benign(0.195) tolerated(0.56) neutral(0.025) HMMPfam_EMI JPH2 57158 genome.wustl.edu 37 20 42744517 42744517 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_020433.4 -1 reviewed p.A600T 0.003 15 0% 17 23.5% 0 - benign(0.003) tolerated(0.52) neutral(0.009) NULL ZMYND8 23613 genome.wustl.edu 37 20 45867566 45867567 + In_Frame_Ins INS - - TGC novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000471951 -1 known p.869in_frame_insQ 0.658:0.997 - - - - - - - - - NULL KCNB1 3745 genome.wustl.edu 37 20 47991190 47991190 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004975.2 -1 reviewed p.R303* 1.000 90 0% 59 10.2% 1 0% - - - HMMPfam_Ion_trans,superfamily_SSF81324 CDH4 1002 genome.wustl.edu 37 20 60504829 60504829 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001794.2 +1 reviewed p.G723D 0.154 112 0% 70 32.9% 0 - probably_damaging(1) tolerated(0.77) deleterious(0.501) NULL SLCO4A1 28231 genome.wustl.edu 37 20 61299244 61299244 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000451793 +1 known p.R27Q 0.000 139 0% 100 43% 1 0% probably_damaging(0.971) tolerated(0.05) deleterious(0.758) NULL OGFR 11054 genome.wustl.edu 37 20 61439674 61439674 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_007346.2 +1 reviewed p.N106D 0.634 91 0% 79 38% 49 59.1% probably_damaging(0.98) tolerated(1) neutral(0.424) HMMPfam_OGFr_N KCNQ2 3785 genome.wustl.edu 37 20 62078192 62078192 + Splice_Site SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_172107.2 -1 reviewed e2-2 0.995 55 0% 37 32.4% 0 - - - - - RTEL1 51750 genome.wustl.edu 37 20 62326167 62326167 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_032957.3 +1 reviewed p.S1061 0.000 41 0% 26 30.8% 21 33.3% - - - NULL ZGPAT 84619 genome.wustl.edu 37 20 62364696 62364696 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_032527.3 +1 validated p.R237H 0.967 33 0% 27 18.5% 41 31.7% probably_damaging(0.994) deleterious(0.04) deleterious(0.801) NULL ADAMTS5 11096 genome.wustl.edu 37 21 28338332 28338332 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_007038.3 -1 reviewed p.R127W 1.000 10 0% 18 44.4% 1 0% benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_Pep_M12B_propep SLC5A3 6526 genome.wustl.edu 37 21 35468492 35468492 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006933.4 +1 validated p.N332S 1.000 144 0% 111 47.7% 3 33.3% benign(0.001) tolerated(0.73) neutral(0.002) HMMPfam_SSF DOPEY2 9980 genome.wustl.edu 37 21 37571384 37571384 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005128.2 +1 validated p.L52P 1.000 232 0% 195 40% 2 100% benign(0.001) tolerated(0.57) neutral(0.006) HMMPfam_Dopey_N UMODL1 89766 genome.wustl.edu 37 21 43539414 43539414 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_173568.3 +1 validated p.R1018K 0.000 123 0% 99 45.5% 0 - benign(0.002) tolerated(0.52) neutral(0.009) HMMPfam_SEA KRTAP10-8 386681 genome.wustl.edu 37 21 46032609 46032609 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_198695.2 +1 validated p.C198R 0.999 240 0% 220 38.6% 0 - unknown(0) deleterious(0) - HMMPfam_Keratin_B2 ADARB1 104 genome.wustl.edu 37 21 46640842 46640842 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_015833.3 +1 validated p.N653 0.994 51 0% 29 37.9% 8 62.5% - - - HMMPfam_A_deamin,HMMSmart_SM00552 COL6A1 1291 genome.wustl.edu 37 21 47423483 47423483 + Silent SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001848.2 +1 reviewed p.T881 0.000 13 0% 16 43.8% 183 19.6% - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 MCM3AP 8888 genome.wustl.edu 37 21 47705021 47705021 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003906.3 -1 reviewed p.A60 0.000 146 0% 115 27% 7 14.2% - - - NULL DIP2A 23181 genome.wustl.edu 37 21 47965904 47965904 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_206891.2 +1 reviewed p.G808 0.058 98 0% 65 41.5% 1 0% - - - NULL CLTCL1 8218 genome.wustl.edu 37 22 19170957 19170957 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_007098.3 -1 reviewed p.L1591 0.885 87 0% 73 45.2% 8 75% - - - NULL ZNF74 7625 genome.wustl.edu 37 22 20759843 20759843 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_003426.2 +1 validated p.V174I 0.000 68 0% 36 58.3% 9 55.5% unknown(0) - - NULL EWSR1 2130 genome.wustl.edu 37 22 29695624 29695624 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005243.3 +1 reviewed p.R572W 0.999 370 0.3% 326 41.1% 331 38.6% unknown(0) deleterious(0.02) - NULL LIMK2 3985 genome.wustl.edu 37 22 31658715 31658715 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001031801.1 +1 reviewed p.H243 0.000 68 0% 53 41.5% 14 35.7% - - - NULL DEPDC5 9681 genome.wustl.edu 37 22 32241192 32241192 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014662.2 +1 validated p.R988H 1.000 96 0% 87 46% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NOL12 79159 genome.wustl.edu 37 22 38087249 38087249 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_024313.2 +1 validated p.R183Q 0.000 47 0% 37 40.5% 26 50% possibly_damaging(0.912) tolerated(0.28) neutral(0.395) HMMPfam_Nop25 TRIOBP 11078 genome.wustl.edu 37 22 38153822 38153822 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001039141.2 +1 reviewed p.R1964C 0.999 25 0% 16 62.5% 59 52.5% probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL MICALL1 85377 genome.wustl.edu 37 22 38323763 38323763 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_033386.2 +1 validated p.P604H 0.991 63 0% 45 20% 31 29% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL APOBEC3D 140564 genome.wustl.edu 37 22 39421654 39421654 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_152426.3 +1 reviewed p.R195C 0.000 213 0% 201 47.8% 3 0% benign(0.006) tolerated(0.11) neutral(0.272) NULL TTC38 55020 genome.wustl.edu 37 22 46684374 46684374 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_017931.2 +1 validated p.S324N 0.664 69 0% 62 50% 24 45.8% benign(0.045) tolerated(0.42) neutral(0.017) NULL TBC1D22A 25771 genome.wustl.edu 37 22 47189509 47189509 + Silent SNP C C T rs138211003 by1000genomes TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014346.1 +1 provisional p.D77 0.240 29 0% 24 50% 25 44% - - - NULL TUBGCP6 85378 genome.wustl.edu 37 22 50667897 50667897 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_020461.3 -1 reviewed p.R409H 1.000 48 0% 34 35.3% 13 30.7% possibly_damaging(0.941) tolerated(0.11) deleterious(0.658) HMMPfam_Spc97_Spc98 PPP6R2 9701 genome.wustl.edu 37 22 50845239 50845239 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014678.3 +1 validated p.N117D 1.000 129 0% 87 44.8% 24 50% possibly_damaging(0.943) deleterious(0) deleterious(0.832) NULL SCML2 10389 genome.wustl.edu 37 X 18265925 18265926 + Frame_Shift_Del DEL GA GA - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006089.2 -1 validated p.P512fs 0.998:0.977 - - - - - - - - - NULL PPEF1 5475 genome.wustl.edu 37 X 18775757 18775757 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006240.2 +1 reviewed p.H137Y 0.014 251 0% 189 41.3% 0 - benign(0.001) deleterious(0.01) neutral(0.406) HMMSmart_SM00156,HMMPfam_PPP5,superfamily_Metallo-dependent phosphatases KLHL34 257240 genome.wustl.edu 37 X 21675201 21675201 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_153270.1 -1 provisional p.V236M 0.165 23 0% 15 66.7% 0 - benign(0.001) tolerated(0.08) neutral(0.300) HMMPfam_BACK KLHL34 257240 genome.wustl.edu 37 X 21675704 21675704 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_153270.1 -1 provisional p.R68H 0.247 26 0% 12 33.3% 0 - benign(0.154) tolerated(0.12) neutral(0.274) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB IL1RAPL1 11141 genome.wustl.edu 37 X 29973820 29973820 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_014271.3 +1 reviewed p.N658 0.996 78 0% 51 51% 0 - - - - NULL BCOR 54880 genome.wustl.edu 37 X 39932680 39932680 + Missense_Mutation SNP A A C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001123385.1 -1 reviewed p.L640R 0.487 94 0% 74 45.9% 7 57.1% probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL MED14 9282 genome.wustl.edu 37 X 40526049 40526049 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004229.3 -1 reviewed p.A1063V 1.000 88 0% 91 47.3% 12 66.6% probably_damaging(0.977) deleterious(0.03) deleterious(0.783) NULL DUSP21 63904 genome.wustl.edu 37 X 44703390 44703390 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_022076.3 +1 reviewed p.S4 0.000 114 0% 68 45.6% 0 - - - - NULL HDAC6 10013 genome.wustl.edu 37 X 48674931 48674931 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_006044.2 +1 reviewed p.R561H 0.996 88 0% 71 29.6% 23 0% probably_damaging(0.987) tolerated(0.05) deleterious(0.782) HMMPfam_Hist_deacetyl,superfamily_SSF52768 CACNA1F 778 genome.wustl.edu 37 X 49062205 49062205 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005183.2 -1 reviewed p.G1858 0.002 61 0% 42 19% 0 - - - - NULL CACNA1F 778 genome.wustl.edu 37 X 49069146 49069146 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005183.2 -1 reviewed p.T1319I 1.000 131 0% 107 14% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels TRO 7216 genome.wustl.edu 37 X 54957379 54957379 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001039705.1 +1 reviewed p.G1408C 0.000 106 0.9% 103 23.3% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ASB12 142689 genome.wustl.edu 37 X 63445298 63445298 + Missense_Mutation SNP C C T rs145118752 by1000genomes TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_130388.2 -1 reviewed p.R69H 1.000 105 0% 85 38.8% 0 - possibly_damaging(0.828) tolerated(0.26) neutral(0.348) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK EDA2R 60401 genome.wustl.edu 37 X 65819449 65819449 + Silent SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_021783.2 -1 reviewed p.L257 1.000 114 0% 79 62% 0 - - - - NULL MED12 9968 genome.wustl.edu 37 X 70341623 70341623 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005120.2 +1 reviewed p.P353H 1.000 241 0.4% 199 38.2% 10 0% probably_damaging(0.976) deleterious(0.02) deleterious(0.801) NULL NLGN3 54413 genome.wustl.edu 37 X 70389250 70389250 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018977.3 +1 reviewed p.R597Q 1.000 115 0.9% 103 22.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_COesterase,superfamily_SSF53474 ZMYM3 9203 genome.wustl.edu 37 X 70460830 70460830 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_005096.3 -1 reviewed p.R1350H 1.000 87 0% 61 11.5% 35 25.7% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL TAF1 6872 genome.wustl.edu 37 X 70617234 70617234 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_004606.3 +1 reviewed p.Y1200H 1.000 168 0% 145 39.3% 8 75% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL ATRX 546 genome.wustl.edu 37 X 76874315 76874315 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_000489.3 -1 reviewed p.R1803C 1.000 189 0% 132 45.5% 21 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF2_N,superfamily_P-loop containing nucleoside triphosphate hydrolases ZCCHC5 203430 genome.wustl.edu 37 X 77913568 77913568 + Missense_Mutation SNP G G T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_152694.2 -1 reviewed p.P117H 0.000 188 0% 178 43.8% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL ZNF711 7552 genome.wustl.edu 37 X 84510753 84510755 + In_Frame_Del DEL GAT GAT - novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 GAT GAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_021998.4 +1 reviewed p.D193in_frame_del 0.988:0.988:0.978 - - - - - - - - - HMMPfam_Zfx_Zfy_act XKRX 402415 genome.wustl.edu 37 X 100177996 100177996 + Missense_Mutation SNP C C A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_212559.2 -1 reviewed p.E143D 1.000 252 0% 213 46.9% 0 - benign(0.002) deleterious(0.02) neutral(0.383) NULL RBM41 55285 genome.wustl.edu 37 X 106331787 106331787 + Missense_Mutation SNP T T G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_018301.3 -1 validated p.K269T 1.000 202 0% 174 40.2% 6 0% benign(0.271) tolerated(0.67) neutral(0.032) NULL ALG13 79868 genome.wustl.edu 37 X 110970188 110970188 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea ENST00000394780 +1 known p.M627I 0.004 150 0% 121 47.9% 5 80% benign(0.014) tolerated(0.3) neutral(0.029) NULL NKAP 79576 genome.wustl.edu 37 X 119077457 119077457 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_024528.3 -1 reviewed p.R38W 0.987 41 0% 46 47.8% 27 0% unknown(0) tolerated(0.22) - NULL C1GALT1C1 29071 genome.wustl.edu 37 X 119760270 119760270 + Missense_Mutation SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001011551.2 -1 reviewed p.V251A 1.000 298 0% 283 38.5% 46 0% benign(0.131) tolerated(0.6) neutral(0.015) NULL TFDP3 51270 genome.wustl.edu 37 X 132351503 132351503 + Missense_Mutation SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_016521.2 -1 reviewed p.S262N 1.000 165 0% 169 50.3% 0 - benign(0.087) tolerated(0.32) neutral(0.030) HMMPfam_DP MOSPD1 56180 genome.wustl.edu 37 X 134033312 134033312 + Missense_Mutation SNP T T C novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_019556.1 -1 provisional p.K51R 1.000 168 0.6% 169 38.5% 14 0% possibly_damaging(0.783) tolerated(0.24) neutral(0.330) HMMPfam_Motile_Sperm,superfamily_PapD-like SLITRK4 139065 genome.wustl.edu 37 X 142718220 142718220 + Silent SNP A A G novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_173078.3 -1 reviewed p.I235 1.000 99 0% 100 38% 0 - - - - HMMSmart_SM00082,superfamily_L domain-like AFF2 2334 genome.wustl.edu 37 X 148035156 148035156 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002025.3 +1 reviewed p.G482R 0.805 106 0% 82 28% 1 0% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) HMMPfam_AF-4 AFF2 2334 genome.wustl.edu 37 X 148037783 148037783 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_002025.3 +1 reviewed p.C736 0.005 141 0% 110 47.3% 2 0% - - - HMMPfam_AF-4 IDS 3423 genome.wustl.edu 37 X 148584954 148584954 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_000202.5 -1 reviewed p.L102 0.995 219 0% 184 29.3% 8 50% - - - HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like MAGEA10 4109 genome.wustl.edu 37 X 151303592 151303592 + Missense_Mutation SNP A A T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001011543.1 -1 reviewed p.N167K 0.000 158 0.6% 142 40.8% 0 - benign(0.016) tolerated(0.66) neutral(0.003) HMMPfam_MAGE ZFP92 139735 genome.wustl.edu 37 X 152684157 152684157 + Silent SNP C C T novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001136273.1 +1 validated p.S20 0.746 295 0% 274 39.8% 1 0% - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box FLNA 2316 genome.wustl.edu 37 X 153578459 153578459 + Missense_Mutation SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_001110556.1 -1 reviewed p.H2425Y 1.000 97 0% 85 47.1% 816 74.7% benign(0.068) deleterious(0.04) neutral(0.353) NULL G6PD 2539 genome.wustl.edu 37 X 153762366 153762366 + Silent SNP G G A novel TCGA-BS-A0TJ-01A-11D-A10B-09 TCGA-BS-A0TJ-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7674e26e-0fa5-4591-ba0d-3af26baae5d5 dd5fbce3-50fd-462e-858c-7a398f17aeea NM_000402.3 -1 reviewed p.N248 1.000 110 0% 101 30.7% 89 0% - - - HMMPfam_G6PD_C,superfamily_SSF55347