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 ISG15 9636 genome.wustl.edu 37 1 949538 949538 + Missense_Mutation SNP C C A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_005101.3 +1 validated p.L60I 0.728 21 0% 21 38.1% - - probably_damaging(0.989) tolerated(0.11) deleterious(0.711) HMMPfam_ubiquitin,HMMSmart_UBQ,superfamily_SSF54236 TPRG1L 127262 genome.wustl.edu 37 1 3545119 3545119 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_182752.3 +1 validated p.N257 0.948 88 0% 115 20.9% - - - - - NULL SPSB1 80176 genome.wustl.edu 37 1 9416287 9416287 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_025106.3 +1 validated p.A113T 1.000 30 0% 22 22.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SPRY,HMMSmart_SPRY PIK3CD 5293 genome.wustl.edu 37 1 9778877 9778877 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_005026.3 +1 validated p.C382 0.932 36 0% 34 29.4% - - - - - HMMPfam_PI3K_C2,HMMSmart_PI3K_C2,superfamily_C2_CaLB ENSG00000199562 0 genome.wustl.edu 37 1 10359129 10359131 + RNA DEL AAA AAA - novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000362692 +1 known NULL 0.024:0.022 - - - - - - - - - - CLCN6 1185 genome.wustl.edu 37 1 11879551 11879551 + Missense_Mutation SNP C C A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001286.2 +1 reviewed p.L96I 1.000 493 0% 434 20.5% - - benign(0.287) tolerated(0.16) neutral(0.148) superfamily_Clc chloride channel CLCNKB 1188 genome.wustl.edu 37 1 16382198 16382198 + Missense_Mutation SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_000085.3 +1 reviewed p.G625V 0.998 112 0% 66 30.3% - - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_CBS KIAA0090 23065 genome.wustl.edu 37 1 19559573 19559573 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_015047.1 -1 predicted p.A497T 1.000 107 0% 96 22.9% - - benign(0.235) tolerated(0.11) neutral(0.295) superfamily_Quinoprotein alcohol dehydrogenase-like E2F2 1870 genome.wustl.edu 37 1 23845536 23845536 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_004091.2 -1 reviewed p.T275M 1.000 95 0% 69 15.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMEM57 55219 genome.wustl.edu 37 1 25785107 25785107 + Missense_Mutation SNP T T C novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_018202.4 +1 validated p.I293T 1.000 143 0% 87 21.8% - - benign(0.01) tolerated(0.25) neutral(0.037) HMMPfam_Macoilin MACF1 23499 genome.wustl.edu 37 1 39852996 39852996 + Missense_Mutation SNP C C T rs188910967 by1000genomes TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_033044.2 +1 reviewed p.R3268W 0.102 145 0% 108 19.4% - - probably_damaging(0.981) deleterious(0.02) deleterious(0.808) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin B4GALT2 8704 genome.wustl.edu 37 1 44447564 44447564 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001005417.1 +1 reviewed p.R173W 1.000 32 0% 28 28.6% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases PDZK1IP1 10158 genome.wustl.edu 37 1 47650687 47650687 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_005764.3 -1 validated p.A87T 0.076 173 0% 109 20.2% - - benign(0.108) tolerated(0.35) neutral(0.029) NULL PODN 127435 genome.wustl.edu 37 1 53544471 53544471 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_153703.3 +1 validated p.R478H 1.000 27 0% 25 16% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMSmart_LRR_TYP,superfamily_SSF52047 PPAP2B 8613 genome.wustl.edu 37 1 57002630 57002630 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_003713.3 -1 reviewed p.L98 0.628 117 0% 90 23.3% - - - - - superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase WLS 79971 genome.wustl.edu 37 1 68610261 68610261 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001002292.2 -1 validated p.I449 0.887 122 0% 90 17.8% - - - - - NULL LRRIQ3 127255 genome.wustl.edu 37 1 74507430 74507430 + Missense_Mutation SNP T T G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001105659.1 -1 provisional p.K395N 0.000 185 0% 187 18.7% - - probably_damaging(0.99) deleterious(0.04) deleterious(0.790) NULL RPL5 6125 genome.wustl.edu 37 1 93303099 93303099 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_000969.3 +1 reviewed p.A205V 1.000 64 0% 61 21.3% - - benign(0.001) deleterious(0.01) neutral(0.406) superfamily_Translational machinery components PTBP2 58155 genome.wustl.edu 37 1 97189133 97189133 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_021190.2 +1 reviewed p.V8I 1.000 524 0% 396 15.9% - - benign(0.008) tolerated(1) - NULL RSBN1 54665 genome.wustl.edu 37 1 114340553 114340553 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_018364.3 -1 validated p.R270H 0.984 282 0% 271 18.5% - - benign(0.041) tolerated(0.05) neutral(0.348) NULL AMPD1 270 genome.wustl.edu 37 1 115217379 115217379 + Missense_Mutation SNP T T A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_000036.2 -1 reviewed p.L598F 1.000 86 0% 60 13.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_A_deaminase,superfamily_SSF51556 CASQ2 845 genome.wustl.edu 37 1 116243932 116243934 + In_Frame_Del DEL TCA TCA - novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 TCA TCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001232.3 -1 reviewed p.D376in_frame_del 0.983:0.986:0.397 - - - - - - - - - HMMPfam_Calsequestrin,PatternScan_CALSEQUESTRIN_2 ADAM30 11085 genome.wustl.edu 37 1 120436940 120436940 + Missense_Mutation SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_021794.2 -1 reviewed p.P674T 0.986 103 0% 100 21% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL CERS2 29956 genome.wustl.edu 37 1 150939317 150939317 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_022075.3 -1 reviewed p.A255T 1.000 109 0% 90 10% - - benign(0.171) tolerated(0.07) neutral(0.335) HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 GATAD2B 57459 genome.wustl.edu 37 1 153782678 153782678 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_020699.2 -1 validated p.S586L 1.000 111 0% 98 26.5% - - possibly_damaging(0.832) tolerated(0.08) deleterious(0.617) NULL HCN3 57657 genome.wustl.edu 37 1 155252555 155252555 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_020897.1 +1 validated p.R211H 1.000 29 3.4% 39 33.3% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_Ion_trans,superfamily_SSF81324 GON4L 54856 genome.wustl.edu 37 1 155735149 155735149 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001037533.1 -1 validated p.T1372M 0.000 78 0% 98 17.3% - - benign(0.036) deleterious(0.05) neutral(0.347) NULL PAQR6 79957 genome.wustl.edu 37 1 156214666 156214666 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_024897.2 -1 provisional p.Q110* 0.971 26 0% 22 18.2% - - - - - HMMPfam_HlyIII KIRREL 55243 genome.wustl.edu 37 1 158063493 158063493 + Silent SNP C C A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_018240.5 +1 validated p.R554 1.000 58 0% 50 28% - - - - - NULL CD1C 911 genome.wustl.edu 37 1 158262385 158262385 + Splice_Site SNP G G C novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001765.2 +1 reviewed e4-1 0.043 73 0% 44 25% - - - - - - ADAMTS4 9507 genome.wustl.edu 37 1 161163472 161163472 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_005099.4 -1 reviewed p.R565C 1.000 55 0% 54 25.9% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat DDR2 4921 genome.wustl.edu 37 1 162724632 162724632 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001014796.1 +1 reviewed p.R135H 1.000 68 0% 69 18.8% - - possibly_damaging(0.588) tolerated(0.16) neutral(0.263) HMMPfam_F5_F8_type_C,HMMSmart_FA58C,superfamily_Gal_bind_like DCAF6 55827 genome.wustl.edu 37 1 167973219 167973219 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_018442.2 +1 validated p.R370Q 1.000 172 0% 119 19.3% - - benign(0.116) tolerated(0.43) neutral(0.022) superfamily_WD40_like TNN 63923 genome.wustl.edu 37 1 175067523 175067523 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_022093.1 +1 validated p.T637 0.559 149 0% 122 22.1% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III CACNA1E 777 genome.wustl.edu 37 1 181732633 181732633 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_000721.2 +1 reviewed p.R1594H 0.999 73 0% 80 20% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels IKBKE 9641 genome.wustl.edu 37 1 206666428 206666428 + Missense_Mutation SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_014002.2 +1 validated p.Q636H 0.988 45 0% 45 15.6% - - benign(0.313) tolerated(0.08) neutral(0.397) NULL IL24 11009 genome.wustl.edu 37 1 207074977 207074977 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_006850.2 +1 reviewed p.V148M 0.000 188 0% 120 17.5% - - benign(0.002) tolerated(0.15) neutral(0.241) superfamily_4_helix_cytokine ENAH 55740 genome.wustl.edu 37 1 225707117 225707118 + Frame_Shift_Del DEL TC TC - novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001008493.1 -1 validated p.R195fs 0.964:0.991 - - - - - - - - - NULL CDC42BPA 8476 genome.wustl.edu 37 1 227504752 227504752 + Missense_Mutation SNP A A T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_003607.3 -1 reviewed p.N44K 1.000 220 0% 169 18.9% - - benign(0.042) deleterious(0.01) neutral(0.408) NULL AGT 183 genome.wustl.edu 37 1 230846201 230846201 + Silent SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_000029.3 -1 reviewed p.T132 0.000 60 0% 43 30.2% - - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins RYR2 6262 genome.wustl.edu 37 1 237947689 237947689 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001035.2 +1 reviewed p.P4226L 0.758 109 0% 88 20.5% - - benign(0.001) - - NULL CEP170 9859 genome.wustl.edu 37 1 243327646 243327646 + Missense_Mutation SNP T T A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_014812.2 -1 reviewed p.I1206F 1.000 354 0% 234 10.3% - - possibly_damaging(0.61) tolerated(0.08) deleterious(0.511) NULL KIF26B 55083 genome.wustl.edu 37 1 245766077 245766077 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_018012.3 +1 provisional p.A517T 1.000 143 0% 122 17.2% - - probably_damaging(0.998) tolerated(0.05) deleterious(0.820) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases OR2M5 127059 genome.wustl.edu 37 1 248309221 248309221 + Missense_Mutation SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001004690.1 +1 provisional p.M258V 0.000 185 0% 174 20.1% - - benign(0) tolerated(0.08) neutral(0.300) HMMPfam_7tm_1,superfamily_SSF81321 OR14C36 127066 genome.wustl.edu 37 1 248512578 248512578 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001001918.1 +1 provisional p.R168W 0.003 144 0% 154 15.6% - - benign(0.002) deleterious(0) neutral(0.445) HMMPfam_7tm_1,superfamily_SSF81321 PXDN 7837 genome.wustl.edu 37 2 1652993 1652993 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_012293.1 -1 validated p.N853 0.994 20 0% 13 30.8% - - - - - HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases PDIA6 10130 genome.wustl.edu 37 2 10927561 10927561 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_005742.2 -1 validated p.L335 1.000 116 0.9% 89 24.7% - - - - - superfamily_Thioredoxin-like PDIA6 10130 genome.wustl.edu 37 2 10932004 10932004 + Missense_Mutation SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_005742.2 -1 validated p.D167E 0.407 247 0% 235 23% - - possibly_damaging(0.565) tolerated(0.2) neutral(0.242) superfamily_Thioredoxin-like,HMMPfam_Thioredoxin SUPT7L 9913 genome.wustl.edu 37 2 27880455 27880455 + Silent SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_014860.1 -1 provisional p.A167 0.961 52 0% 33 18.2% - - - - - HMMPfam_Bromo_TP,HMMSmart_SM00576 SPDYA 245711 genome.wustl.edu 37 2 29038987 29038987 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001142634.1 +1 validated p.R36H 1.000 182 0% 181 16.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1841 84542 genome.wustl.edu 37 2 61349272 61349272 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001129993.1 +1 validated p.R711H 1.000 199 0% 156 19.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM161A 84140 genome.wustl.edu 37 2 62067440 62067440 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000418113 -1 known p.C229Y 0.983 436 0% 406 17.5% - - - - - NULL NAGK 55577 genome.wustl.edu 37 2 71298830 71298830 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_017567.4 +1 validated p.S76 0.990 41 0% 42 16.7% - - - - - HMMPfam_BcrAD_BadFG,superfamily_SSF53067 ALMS1 7840 genome.wustl.edu 37 2 73678048 73678048 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_015120.4 +1 reviewed p.T1464M 0.000 92 0% 93 11.8% - - probably_damaging(0.995) deleterious(0.04) deleterious(0.806) NULL LINC00152 112597 genome.wustl.edu 37 2 87820977 87820977 + RNA SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NR_024204.1 +1 validated NULL 0.002 278 0% 193 17.6% - - - - - - IGKV3-7 28915 genome.wustl.edu 37 2 89278192 89278193 + Frame_Shift_Del DEL CT CT - novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000390247 -1 known p.S48fs 0.006:0.005 - - - - - - - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin PROM2 150696 genome.wustl.edu 37 2 95950761 95950761 + Missense_Mutation SNP C C A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_144707.2 +1 reviewed p.D591E 0.000 30 0% 41 19.5% - - benign(0.009) deleterious(0.01) neutral(0.406) HMMPfam_Prominin FER1L5 90342 genome.wustl.edu 37 2 97361395 97361395 + Silent SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001113382.1 +1 provisional p.T1324 0.043 25 0% 26 19.2% - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) TUBA3E 112714 genome.wustl.edu 37 2 130949416 130949416 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_207312.2 -1 validated p.G447 0.982 267 0% 229 24.5% - - - - - NULL LCT 3938 genome.wustl.edu 37 2 136548393 136548395 + In_Frame_Del DEL TCT TCT - novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_002299.2 -1 reviewed p.K1723in_frame_del 0.999:1.000:1.000 - - - - - - - - - HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat ZEB2 9839 genome.wustl.edu 37 2 145157705 145157705 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_014795.3 -1 reviewed p.T350M 1.000 153 0% 107 23.4% - - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) NULL PLA2R1 22925 genome.wustl.edu 37 2 160811724 160811724 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_007366.3 -1 validated p.C1096Y 1.000 404 0% 354 18.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like LRP2 4036 genome.wustl.edu 37 2 170147400 170147400 + Missense_Mutation SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_004525.2 -1 reviewed p.P293T 1.000 496 0% 387 15.5% - - probably_damaging(0.998) tolerated(0.58) deleterious(0.479) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich GPR155 151556 genome.wustl.edu 37 2 175330526 175330526 + Silent SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001033045.2 -1 validated p.T457 0.999 119 0% 103 15.5% - - - - - NULL HOXD3 3232 genome.wustl.edu 37 2 177036849 177036849 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_006898.4 +1 reviewed p.P382 0.901 26 0% 27 18.5% - - - - - NULL NRP2 8828 genome.wustl.edu 37 2 206641090 206641090 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_018534.3 +1 reviewed p.A854V 0.997 24 0% 17 29.4% - - benign(0.004) tolerated(1) - NULL PIKFYVE 200576 genome.wustl.edu 37 2 209138443 209138443 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_015040.3 +1 reviewed p.R103H 1.000 157 0.6% 132 12.1% - - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL UNC80 285175 genome.wustl.edu 37 2 210818949 210818949 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_032504.1 +1 validated p.A2405V 1.000 165 0% 123 19.5% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL ABCA12 26154 genome.wustl.edu 37 2 215823796 215823796 + Missense_Mutation SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_173076.2 -1 reviewed p.I1964T 1.000 234 0% 190 20% - - benign(0) tolerated(1) - NULL EPHA4 2043 genome.wustl.edu 37 2 222429065 222429065 + Missense_Mutation SNP T T C novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_004438.3 -1 reviewed p.Y70C 1.000 86 0% 80 20% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,superfamily_Gal_bind_like NMUR1 10316 genome.wustl.edu 37 2 232393392 232393392 + Missense_Mutation SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_006056.4 -1 validated p.L114M 0.838 37 0% 41 22% - - benign(0.022) tolerated(0.62) neutral(0.005) HMMPfam_7tm_1,superfamily_SSF81321 CXCR7 57007 genome.wustl.edu 37 2 237489572 237489572 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_020311.2 +1 reviewed p.S155N 0.000 142 0% 128 25% - - benign(0.001) tolerated(0.27) neutral(0.034) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like KIF1A 547 genome.wustl.edu 37 2 241660353 241660353 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_004321.4 -1 reviewed p.R1515W 0.997 29 0% 41 19.5% - - probably_damaging(0.966) deleterious(0.01) deleterious(0.814) NULL ITPR1 3708 genome.wustl.edu 37 3 4730216 4730216 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001099952.2 +1 reviewed p.A1238V 1.000 111 0% 119 16.8% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_RYDR_ITPR NUP210 23225 genome.wustl.edu 37 3 13360603 13360603 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_024923.2 -1 reviewed p.T1844 0.000 55 0% 62 14.5% - - - - - NULL NEK10 152110 genome.wustl.edu 37 3 27257371 27257371 + Silent SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_199347.2 -1 validated p.C697 0.062 121 0% 97 17.5% - - benign(0) tolerated(0.08) neutral(0.300) HMMSmart_SM00219,HMMSmart_SM00220 TRANK1 9881 genome.wustl.edu 37 3 36874929 36874929 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_014831.2 -1 provisional p.A1455T 0.916 28 0% 39 23.1% - - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL MLH1 4292 genome.wustl.edu 37 3 37090505 37090505 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_000249.3 +1 reviewed p.Q700 0.998 138 0% 140 19.3% - - - - - NULL PLCD1 5333 genome.wustl.edu 37 3 38049815 38049815 + Missense_Mutation SNP T T A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001130964.1 -1 validated p.N670I 0.999 96 0% 73 23.3% - - possibly_damaging(0.912) tolerated(0.09) deleterious(0.660) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB LAMB2 3913 genome.wustl.edu 37 3 49166724 49166724 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_002292.3 -1 reviewed p.G518S 1.000 30 0% 25 20% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,superfamily_SSF57196 LAMB2 3913 genome.wustl.edu 37 3 49167372 49167372 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_002292.3 -1 reviewed p.S435 0.000 61 0% 48 18.8% - - - - - HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196 AMT 275 genome.wustl.edu 37 3 49455073 49455073 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_000481.3 -1 reviewed p.R371H 0.461 36 0% 31 25.8% - - benign(0.011) deleterious(0.02) neutral(0.384) HMMPfam_GCV_T_C,superfamily_Aminomethyltransferase beta-barrel domain PTPRG 5793 genome.wustl.edu 37 3 62118283 62118283 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_002841.3 +1 reviewed p.P208L 1.000 266 0% 207 27.5% - - benign(0.063) tolerated(0.1) neutral(0.290) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase POU1F1 5449 genome.wustl.edu 37 3 87322579 87322579 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001122757.1 -1 reviewed p.L70 0.988 183 0% 138 18.1% - - - - - NULL LOC100287763 100287763 genome.wustl.edu 37 3 98244075 98244075 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 XM_002342388.1 +1 model p.A130T 1.000 47 0% 36 25% - - - - - NULL ZBTB11 27107 genome.wustl.edu 37 3 101395476 101395476 + Missense_Mutation SNP A A T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_014415.3 -1 validated p.Y95N 0.144 22 0% 20 40% - - benign(0) tolerated(0.43) neutral(0.013) NULL FAM55C 91775 genome.wustl.edu 37 3 101540410 101540410 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001134456.1 +1 validated p.G431D 0.972 119 0% 89 14.6% - - possibly_damaging(0.648) tolerated(0.47) neutral(0.239) NULL PLXNA1 5361 genome.wustl.edu 37 3 126735833 126735833 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_032242.3 +1 validated p.R1054C 0.686 46 0% 32 25% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains ASTE1 28990 genome.wustl.edu 37 3 130743435 130743435 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_014065.2 -1 validated p.A239V 0.005 71 0% 55 18.2% - - benign(0) tolerated(1) - NULL TF 7018 genome.wustl.edu 37 3 133483740 133483740 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001063.3 +1 reviewed p.T440I 0.000 450 0% 376 16% - - benign(0.021) tolerated(0.19) neutral(0.051) HMMPfam_Transferrin,HMMSmart_SM00094,superfamily_Periplasmic binding protein-like II DZIP1L 199221 genome.wustl.edu 37 3 137787028 137787028 + Silent SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_173543.2 -1 validated p.P599 0.000 46 0% 42 19% - - - - - NULL NMNAT3 349565 genome.wustl.edu 37 3 139297817 139297817 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_178177.2 -1 provisional p.R27* 1.000 199 0% 169 20.7% - - - - - HMMPfam_CTP_transf_2,superfamily_SSF52374 TRIM42 287015 genome.wustl.edu 37 3 140401834 140401834 + Missense_Mutation SNP T T C novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_152616.3 +1 reviewed p.I291T 1.000 168 0% 141 18.4% - - possibly_damaging(0.497) tolerated(0.49) neutral(0.177) HMMPfam_zf-B_box,HMMSmart_SM00336 MIR16-2 406951 genome.wustl.edu 37 3 160122562 160122562 + RNA SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000362117 +1 known NULL 1.000 200 0% 229 11.4% - - - - - - PIK3CA 5290 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 byCluster TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_006218.2 +1 reviewed p.H1047R 1.000 125 0% 105 16.2% - - possibly_damaging(0.926) deleterious(0.03) deleterious(0.739) HMMSmart_PI3Kc,superfamily_Kinase_like ACTL6A 86 genome.wustl.edu 37 3 179298428 179298428 + Missense_Mutation SNP T T C novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_004301.3 +1 reviewed p.C257R 1.000 433 0% 289 19.7% - - benign(0) tolerated(0.52) neutral(0.009) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain LIPH 200879 genome.wustl.edu 37 3 185251436 185251436 + Missense_Mutation SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_139248.2 -1 reviewed p.M150T 1.000 292 0% 216 20.4% - - benign(0.043) deleterious(0.01) neutral(0.408) HMMPfam_Lipase,superfamily_SSF53474 MAN2B2 23324 genome.wustl.edu 37 4 6621701 6621701 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_015274.1 +1 validated p.S954 0.421 41 0% 33 21.2% - - - - - HMMPfam_Glyco_hydro_38C SLC2A9 56606 genome.wustl.edu 37 4 9836564 9836564 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_020041.2 -1 reviewed p.A454T 1.000 31 0% 29 34.5% - - probably_damaging(0.997) tolerated(0.06) deleterious(0.788) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter WDR1 9948 genome.wustl.edu 37 4 10089957 10089957 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_017491.3 -1 reviewed p.A226V 0.056 157 0% 142 14.8% - - benign(0.049) tolerated(0.26) neutral(0.037) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 KLB 152831 genome.wustl.edu 37 4 39435901 39435901 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_175737.3 +1 validated p.T299 0.000 81 0% 84 14.3% - - - - - HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat LIMCH1 22998 genome.wustl.edu 37 4 41621389 41621390 + Frame_Shift_Del DEL AG AG - novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_014988.2 +1 validated p.E292fs 0.000:0.999 - - - - - - - - - NULL LNX1 84708 genome.wustl.edu 37 4 54362345 54362345 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001126328.1 -1 reviewed p.R399C 1.000 150 0% 121 20.7% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like SCD5 79966 genome.wustl.edu 37 4 83601873 83601873 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001037582.2 -1 validated p.R186W 0.977 103 0% 77 10.4% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_FA_desaturase PITX2 5308 genome.wustl.edu 37 4 111539617 111539617 + Missense_Mutation SNP T T C novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000394595 -1 known p.I138V 0.098 144 0% 112 18.8% - - unknown(0) - - NULL FAM160A1 729830 genome.wustl.edu 37 4 152567753 152567753 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001109977.1 +1 predicted p.A424T 1.000 218 0% 154 16.9% - - probably_damaging(0.998) tolerated(0.59) deleterious(0.479) NULL SORBS2 8470 genome.wustl.edu 37 4 186544264 186544264 + Silent SNP G G A rs149773204 by1000genomes TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_021069.4 -1 reviewed p.P769 0.091 76 0% 70 21.4% - - - - - NULL SLC12A7 10723 genome.wustl.edu 37 5 1053521 1053521 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_006598.2 -1 validated p.Q1035* 0.930 157 0% 88 21.6% - - - - - NULL DNAH5 1767 genome.wustl.edu 37 5 13701399 13701399 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001369.2 -1 reviewed p.M4495I 1.000 110 0% 71 25.4% - - benign(0.284) deleterious(0) deleterious(0.531) HMMPfam_Dynein_heavy CDH12 1010 genome.wustl.edu 37 5 21817082 21817082 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_004061.3 -1 reviewed p.T325I 1.000 334 0% 215 15.8% - - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin ADAMTS12 81792 genome.wustl.edu 37 5 33881525 33881525 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_030955.2 -1 reviewed p.S63N 0.002 95 0% 87 24.1% - - benign(0.318) tolerated(1) neutral(0.100) HMMPfam_Pep_M12B_propep GPX8 493869 genome.wustl.edu 37 5 54456034 54456034 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001008397.2 +1 validated p.A5V 0.000 190 0% 147 24.5% - - benign(0) deleterious(0.02) neutral(0.383) NULL BDP1 55814 genome.wustl.edu 37 5 70782440 70782440 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_018429.2 +1 reviewed p.R400Q 0.968 160 0% 106 16% - - possibly_damaging(0.914) deleterious(0.02) deleterious(0.749) NULL TMEM171 134285 genome.wustl.edu 37 5 72419496 72419496 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_173490.6 +1 validated p.R99Q 0.045 147 0% 128 20.3% - - benign(0.033) tolerated(0.6) neutral(0.006) NULL CRHBP 1393 genome.wustl.edu 37 5 76249960 76249961 + In_Frame_Ins INS - - TGG novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001882.3 +1 reviewed p.94in_frame_insW 0.908:0.911 - - - - - - - - - superfamily_Spermadhesin CUB domain,HMMPfam_CRF-BP RASGRF2 5924 genome.wustl.edu 37 5 80422899 80422899 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_006909.1 +1 validated p.T868M 0.154 147 0% 109 22.9% - - possibly_damaging(0.553) tolerated(0.05) deleterious(0.534) HMMPfam_RasGEF_N,HMMSmart_SM00229,superfamily_Ras GEF ERAP1 51752 genome.wustl.edu 37 5 96121571 96121574 + Frame_Shift_Del DEL CAGT CAGT - novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 CAGT CAGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_016442.3 -1 validated p.T621fs 0.003:0.016:0.621:0.974 - - - - - - - - - NULL FBN2 2201 genome.wustl.edu 37 5 127681191 127681191 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001999.3 -1 reviewed p.C1025 1.000 56 0% 46 23.9% - - - - - HMMPfam_TB,superfamily_TB module/8-cys domain,superfamily_Concanavalin A-like lectins/glucanases ADAMTS19 171019 genome.wustl.edu 37 5 129040026 129040026 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_133638.3 +1 reviewed p.A1079V 0.956 122 0% 124 19.4% - - benign(0.001) tolerated(0.35) neutral(0.021) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat PKD2L2 27039 genome.wustl.edu 37 5 137271497 137271497 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_014386.2 +1 validated p.N561 0.945 156 0.6% 120 13.3% - - - - - NULL ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139820595 139820595 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_020690.4 +1 reviewed p.H261Y 1.000 265 0% 194 16.5% - - possibly_damaging(0.825) tolerated(0.25) neutral(0.349) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK PCDHA6 56142 genome.wustl.edu 37 5 140209518 140209518 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_018909.2 +1 reviewed p.P614 0.000 65 0% 67 25.4% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA9 9752 genome.wustl.edu 37 5 140229865 140229865 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_031857.1 +1 reviewed p.R595 0.996 29 0% 34 14.7% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA11 56138 genome.wustl.edu 37 5 140250134 140250134 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_018902.3 +1 reviewed p.D482 0.352 59 0% 41 24.4% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA13 56136 genome.wustl.edu 37 5 140262146 140262146 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_018904.2 +1 reviewed p.R98Q 0.865 87 0% 57 28.1% - - benign(0.022) tolerated(0.62) neutral(0.005) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHB1 29930 genome.wustl.edu 37 5 140431394 140431394 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_013340.2 +1 reviewed p.P113 0.008 73 0% 49 22.4% - - - - - HMMSmart_CA,superfamily_Cadherin PCDHGB7 56099 genome.wustl.edu 37 5 140798161 140798161 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_018927.2 +1 reviewed p.D245 0.000 55 0% 61 11.5% - - - - - superfamily_Cadherin-like NR3C1 2908 genome.wustl.edu 37 5 142675154 142675154 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001024094.1 -1 reviewed p.Q633* 1.000 135 0% 110 19.1% - - - - - HMMPfam_Hormone_recep,HMMSmart_HOLI,superfamily_Str_ncl_receptor HAVCR1 26762 genome.wustl.edu 37 5 156482403 156482403 + Missense_Mutation SNP C C A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001099414.1 -1 reviewed p.W63L 0.054 105 0% 110 15.5% - - unknown(0) tolerated(0.62) - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin EBF1 1879 genome.wustl.edu 37 5 158135029 158135029 + Missense_Mutation SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_024007.3 -1 validated p.P568T 1.000 238 0% 232 24.6% - - probably_damaging(1) tolerated(0.14) deleterious(0.750) NULL ADRA1B 147 genome.wustl.edu 37 5 159344141 159344141 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_000679.3 +1 reviewed p.R77W 1.000 48 0% 43 18.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GABRG2 2566 genome.wustl.edu 37 5 161531006 161531006 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_198903.2 +1 reviewed p.T288I 1.000 226 0% 154 12.3% - - probably_damaging(0.986) tolerated(0.4) neutral(0.451) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like WWC1 23286 genome.wustl.edu 37 5 167882491 167882491 + Missense_Mutation SNP T T C novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_015238.2 +1 reviewed p.F930S 1.000 76 0% 61 14.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM217A 222826 genome.wustl.edu 37 6 4069816 4069816 + Missense_Mutation SNP G G C novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_173563.1 -1 predicted p.T214S 0.996 233 0% 196 23.5% - - benign(0.002) tolerated(1) - NULL HIVEP1 3096 genome.wustl.edu 37 6 12124018 12124018 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_002114.2 +1 validated p.T1330 0.000 80 0% 60 11.7% - - - - - NULL HIST1H1A 3024 genome.wustl.edu 37 6 26017619 26017619 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_005325.3 -1 reviewed p.A114 0.000 221 0% 179 21.2% - - - - - NULL PKHD1 5314 genome.wustl.edu 37 6 51924834 51924834 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_138694.3 -1 reviewed p.R375 1.000 110 0% 116 20.7% - - - - - NULL HTR1B 3351 genome.wustl.edu 37 6 78173081 78173081 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_000863.1 -1 provisional p.A14T 0.001 69 0% 66 24.2% - - possibly_damaging(0.465) tolerated(0.11) neutral(0.424) superfamily_Family A G protein-coupled receptor-like PHIP 55023 genome.wustl.edu 37 6 79770485 79770485 + Silent SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_017934.5 -1 validated p.H80 1.000 173 0% 144 16% - - - - - NULL UFL1 23376 genome.wustl.edu 37 6 96997359 96997359 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_015323.4 +1 validated p.T531M 1.000 268 0% 176 18.8% - - possibly_damaging(0.768) tolerated(0.1) deleterious(0.571) NULL USP45 85015 genome.wustl.edu 37 6 99930758 99930758 + Missense_Mutation SNP T T C novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001080481.1 -1 provisional p.D239G 1.000 140 0% 110 28.2% - - benign(0.004) tolerated(0.4) neutral(0.016) HMMPfam_UCH,superfamily_Cysteine proteinases REV3L 5980 genome.wustl.edu 37 6 111628680 111628681 + Frame_Shift_Del DEL CA CA - novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_002912.3 -1 validated p.C3045fs 1.000:0.999 - - - - - - - - - NULL TRAF3IP2 10758 genome.wustl.edu 37 6 111912627 111912627 + Silent SNP C C A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_147686.2 -1 reviewed p.V221 0.049 70 0% 63 15.9% - - - - - NULL SLC35D3 340146 genome.wustl.edu 37 6 137245686 137245686 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001008783.1 +1 provisional p.R368Q 0.000 140 0% 126 17.5% - - benign(0.016) tolerated(0.31) neutral(0.028) NULL OLIG3 167826 genome.wustl.edu 37 6 137815107 137815107 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_175747.2 -1 provisional p.S67 1.000 85 0% 50 12% - - - - - NULL KIAA1244 57221 genome.wustl.edu 37 6 138601198 138601198 + Silent SNP T T C novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_020340.4 +1 validated p.I786 0.005 124 0% 113 17.7% - - - - - HMMSmart_Sec7 NHSL1 57224 genome.wustl.edu 37 6 138892930 138892930 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000342260 -1 known p.R40H 1.000 150 0% 97 15.5% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ZC2HC1B 153918 genome.wustl.edu 37 6 144205482 144205482 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001013623.2 +1 validated p.R24C 1.000 217 0% 190 30% - - benign(0.02) tolerated(0.13) neutral(0.254) NULL ARID1B 57492 genome.wustl.edu 37 6 157522274 157522274 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_017519.2 +1 validated p.V1498I 1.000 91 0% 117 20.5% - - possibly_damaging(0.776) - - NULL IGF2R 3482 genome.wustl.edu 37 6 160491079 160491079 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_000876.2 +1 reviewed p.E1478K 0.915 115 0% 96 18.8% - - benign(0.003) tolerated(0.53) neutral(0.007) HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain FBXL18 80028 genome.wustl.edu 37 7 5521511 5521511 + Nonsense_Mutation SNP G G A rs190326632 by1000genomes TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000297035 -1 known p.R243* 1.000 26 0% 29 17.2% - - - - - NULL EIF2AK1 27102 genome.wustl.edu 37 7 6082581 6082581 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_014413.3 -1 reviewed p.S258 0.008 78 0% 71 23.9% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase GRID2IP 392862 genome.wustl.edu 37 7 6537709 6537709 + Missense_Mutation SNP T T C novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001145118.1 -1 validated p.M1184V 1.000 62 0% 41 12.2% - - benign(0.026) tolerated(0.12) neutral(0.262) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd INHBA 3624 genome.wustl.edu 37 7 41739850 41739850 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_002192.2 -1 reviewed p.A41 1.000 47 0% 49 18.4% - - - - - NULL MYO1G 64005 genome.wustl.edu 37 7 45005713 45005713 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_033054.2 -1 validated p.R706* 0.999 100 0% 69 21.7% - - - - - HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases WBSCR17 64409 genome.wustl.edu 37 7 70886066 70886066 + Missense_Mutation SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_022479.1 +1 reviewed p.A313S 1.000 65 0% 63 12.7% - - benign(0.02) tolerated(0.34) neutral(0.024) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases TRIM50 135892 genome.wustl.edu 37 7 72738453 72738453 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_178125.2 -1 provisional p.C111 0.911 58 0% 44 15.9% - - - - - HMMPfam_zf-B_box,HMMSmart_SM00336 SEMA3C 10512 genome.wustl.edu 37 7 80427521 80427522 + Frame_Shift_Del DEL AC AC - novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_006379.2 -1 validated p.Y340fs 1.000:0.993 - - - - - - - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema ZNF3 7551 genome.wustl.edu 37 7 99672830 99672830 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_032924.3 -1 validated p.R67C 0.997 192 0% 162 17.3% - - probably_damaging(0.991) tolerated(0.21) deleterious(0.488) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box AP4M1 9179 genome.wustl.edu 37 7 99700383 99700383 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_004722.3 +1 reviewed p.S78N 1.000 248 0% 187 23% - - benign(0.087) tolerated(0.28) neutral(0.038) HMMPfam_Clat_adaptor_s,superfamily_Longin_like FBXO24 26261 genome.wustl.edu 37 7 100193312 100193312 + Silent SNP C C A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_033506.2 +1 reviewed p.R397 1.000 132 0% 105 15.2% - - - - - superfamily_RCC1/BLIP-II CLDN15 24146 genome.wustl.edu 37 7 100880792 100880793 + Frame_Shift_Del DEL AG AG - novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_014343.2 -1 reviewed p.L24fs 1.000:0.998 - - - - - - - - - HMMPfam_PMP22_Claudin SLC26A5 375611 genome.wustl.edu 37 7 103052027 103052027 + Missense_Mutation SNP A A T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_198999.2 -1 reviewed p.F137Y 1.000 175 0% 148 18.2% - - possibly_damaging(0.495) tolerated(0.07) deleterious(0.484) NULL MET 4233 genome.wustl.edu 37 7 116339926 116339926 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001127500.1 +1 reviewed p.T263M 1.000 131 0% 99 21.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema PLXNA4 91584 genome.wustl.edu 37 7 131982905 131982905 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_020911.1 -1 validated p.R483Q 1.000 69 0% 70 18.6% - - probably_damaging(0.988) tolerated(0.32) neutral(0.462) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain EXOC4 60412 genome.wustl.edu 37 7 132959871 132959871 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_021807.3 +1 reviewed p.R74H 1.000 119 0% 90 23.3% - - possibly_damaging(0.931) tolerated(0.12) deleterious(0.638) HMMPfam_Sec8_exocyst HTR5A 3361 genome.wustl.edu 37 7 154876006 154876006 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_024012.2 +1 reviewed p.V295M 0.967 206 0% 160 22.5% - - possibly_damaging(0.944) deleterious(0) deleterious(0.833) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PSD3 23362 genome.wustl.edu 37 8 18490155 18490155 + Missense_Mutation SNP C C A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_015310.3 -1 validated p.R793L 1.000 277 0% 229 24.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 DOK2 9046 genome.wustl.edu 37 8 21768191 21768191 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_003974.2 -1 reviewed p.R204Q 0.993 69 0% 65 21.5% - - probably_damaging(0.991) tolerated(0.15) deleterious(0.685) HMMPfam_IRS,HMMSmart_PTBI,superfamily_SSF50729 IKBKB 3551 genome.wustl.edu 37 8 42147734 42147734 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001556.1 +1 validated p.A87 0.142 66 1.5% 36 22.2% - - - - - superfamily_Kinase_like,HMMPfam_Pkinase SNTG1 54212 genome.wustl.edu 37 8 51442736 51442736 + Splice_Site SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_018967.2 +1 reviewed e8-1 1.000 193 0% 208 19.2% - - - - - - CTHRC1 115908 genome.wustl.edu 37 8 104388170 104388170 + Missense_Mutation SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_138455.2 +1 provisional p.D119Y 1.000 96 0% 61 18% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PKHD1L1 93035 genome.wustl.edu 37 8 110471929 110471929 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_177531.4 +1 validated p.T2370 0.984 161 0% 125 19.2% - - - - - NULL FAM91A1 157769 genome.wustl.edu 37 8 124799557 124799557 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_144963.2 +1 validated p.A379T 1.000 123 0% 109 13.8% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL PLEC 5339 genome.wustl.edu 37 8 145005731 145005731 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_201380.2 -1 reviewed p.R896W 0.994 59 0% 55 23.6% - - unknown(0) - - HMMSmart_SM00150,superfamily_Spectrin repeat CDC37L1 55664 genome.wustl.edu 37 9 4706075 4706077 + In_Frame_Del DEL AAG AAG - novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_017913.2 +1 validated p.E327in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_SSF101391 C9orf11 54586 genome.wustl.edu 37 9 27294315 27294315 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_020641.2 -1 validated p.N96 0.558 453 0% 369 15.4% - - - - - NULL ACO1 48 genome.wustl.edu 37 9 32430501 32430501 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_002197.2 +1 reviewed p.A552V 1.000 234 0% 170 20% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Aconitase,superfamily_Aconitase iron-sulfur domain C9orf24 84688 genome.wustl.edu 37 9 34379091 34379091 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_147169.1 -1 reviewed p.D107N 0.005 138 0% 124 19.4% - - benign(0.17) tolerated(0.34) neutral(0.038) NULL DNAI1 27019 genome.wustl.edu 37 9 34493294 34493294 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_012144.2 +1 reviewed p.A262T 0.405 124 0% 100 30% - - benign(0) tolerated(0.78) neutral(0.001) superfamily_WD40_like IL11RA 3590 genome.wustl.edu 37 9 34657115 34657115 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001142784.1 +1 reviewed p.G139S 1.000 106 0% 92 23.9% - - possibly_damaging(0.685) tolerated(0.57) neutral(0.251) HMMSmart_SM00060,superfamily_Fibronectin type III C9orf131 138724 genome.wustl.edu 37 9 35042264 35042264 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_203299.2 +1 validated p.L5 0.035 50 0% 40 20% - - - - - NULL PRKACG 5568 genome.wustl.edu 37 9 71628435 71628435 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_002732.3 -1 reviewed p.V192M 1.000 43 0% 49 14.3% - - probably_damaging(0.978) deleterious(0.01) deleterious(0.826) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase FGD3 89846 genome.wustl.edu 37 9 95776198 95776198 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001083536.1 +1 validated p.P367L 1.000 107 0% 86 24.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PH domain-like PHF19 26147 genome.wustl.edu 37 9 123626327 123626327 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_015651.1 -1 validated p.R323Q 1.000 129 0% 109 16.5% - - probably_damaging(0.986) deleterious(0.04) deleterious(0.783) NULL SET 6418 genome.wustl.edu 37 9 131454262 131454262 + Missense_Mutation SNP T T G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001122821.1 +1 validated p.F99C 1.000 94 0% 84 23.8% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_NAP PRRC2B 84726 genome.wustl.edu 37 9 134357790 134357790 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000451855 +1 known p.R405C 0.965 98 0% 71 22.5% - - - - - NULL COL5A1 1289 genome.wustl.edu 37 9 137593103 137593103 + Missense_Mutation SNP G G A rs142933609 by1000genomes TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_000093.3 +1 reviewed p.R193H 1.000 162 0% 146 15.8% - - unknown(0) deleterious(0) - HMMSmart_LamG,HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 KCNT1 57582 genome.wustl.edu 37 9 138660508 138660508 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_020822.2 +1 validated p.R464C 1.000 24 0% 25 20% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_NAD(P)-bd FAM188A 80013 genome.wustl.edu 37 10 15885223 15885223 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_024948.2 -1 validated p.R75W 1.000 116 0% 79 19% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ANK3 288 genome.wustl.edu 37 10 61958166 61958166 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_020987.2 -1 reviewed p.R541* 1.000 187 0% 141 24.1% - - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ARID5B 84159 genome.wustl.edu 37 10 63845585 63845585 + Frame_Shift_Del DEL A A - novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_032199.2 +1 validated p.K442fs 1.000 - - - - - - - - - NULL CDH23 64072 genome.wustl.edu 37 10 73491782 73491782 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_022124.5 +1 reviewed p.A1252T 0.646 60 0% 53 24.5% - - benign(0.165) tolerated(0.26) neutral(0.049) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH23 64072 genome.wustl.edu 37 10 73500595 73500595 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_022124.5 +1 reviewed p.R1502Q 0.993 43 0% 35 28.6% - - benign(0.342) tolerated(0.22) neutral(0.150) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH23 64072 genome.wustl.edu 37 10 73544093 73544093 + Silent SNP C C T rs74145660 byCluster;by1000genomes TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_022124.5 +1 reviewed p.D1806 0.751 62 0% 48 18.8% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like ZCCHC24 219654 genome.wustl.edu 37 10 81146193 81146193 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_153367.3 -1 validated p.G212S 1.000 42 0% 26 23.1% - - unknown(0) - - NULL LIPM 340654 genome.wustl.edu 37 10 90572932 90572932 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001128215.1 +1 validated p.S115N 1.000 256 0% 186 12.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF53474 PCGF5 84333 genome.wustl.edu 37 10 93000278 93000278 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_032373.3 +1 provisional p.S50 1.000 253 0% 218 17% - - - - - HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box KIF11 3832 genome.wustl.edu 37 10 94366053 94366053 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_004523.3 +1 reviewed p.A37T 0.991 137 0% 117 18.8% - - possibly_damaging(0.576) deleterious(0.02) deleterious(0.581) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 CCNJ 54619 genome.wustl.edu 37 10 97810101 97810101 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001134375.1 +1 validated p.R53H 1.000 270 0% 227 11.5% - - benign(0.015) tolerated(0.34) neutral(0.024) HMMSmart_CYCLIN,HMMPfam_Cyclin_N,superfamily_Cyclin_like RRP12 23223 genome.wustl.edu 37 10 99126521 99126522 + In_Frame_Ins INS - - CTCCTCCTCCTC novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_015179.3 -1 validated p.1064in_frame_insEEEE 0.116:0.115 - - - - - - - - - NULL BTRC 8945 genome.wustl.edu 37 10 103310583 103310583 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_033637.2 +1 reviewed p.S595F 1.000 199 0% 161 21.7% - - probably_damaging(0.972) deleterious(0) deleterious(0.859) NULL ATRNL1 26033 genome.wustl.edu 37 10 117027869 117027869 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_207303.2 +1 validated p.C683Y 1.000 349 0.3% 277 12.3% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_PSI,HMMSmart_SM00423 DNHD1 144132 genome.wustl.edu 37 11 6568129 6568129 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_144666.2 +1 provisional p.G1987D 0.699 27 0% 16 25% - - benign(0.041) tolerated(0.09) neutral(0.299) superfamily_P-loop containing nucleoside triphosphate hydrolases DCHS1 8642 genome.wustl.edu 37 11 6645358 6645358 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_003737.2 -1 reviewed p.A2517T 0.029 28 0% 19 26.3% - - benign(0) tolerated(0.45) neutral(0.012) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CTR9 9646 genome.wustl.edu 37 11 10786162 10786162 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_014633.3 +1 provisional p.A494V 1.000 171 0% 122 19.7% - - benign(0.212) deleterious(0.02) neutral(0.404) NULL USP47 55031 genome.wustl.edu 37 11 11944322 11944322 + Missense_Mutation SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_017944.3 +1 validated p.S356G 1.000 220 0% 154 20.1% - - benign(0.109) deleterious(0.02) neutral(0.392) HMMPfam_UCH,superfamily_Cysteine proteinases USP47 55031 genome.wustl.edu 37 11 11969623 11969623 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_017944.3 +1 validated p.V1007I 1.000 274 0% 225 27.1% - - benign(0.001) tolerated(0.24) neutral(0.037) NULL CYP2R1 120227 genome.wustl.edu 37 11 14901724 14901724 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_024514.4 -1 reviewed p.R320W 0.992 78 0% 78 23.1% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_p450,superfamily_Cytochrome_P450 ZDHHC5 25921 genome.wustl.edu 37 11 57440646 57440646 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_015457.2 +1 validated p.T28 0.470 279 0.4% 216 16.2% - - - - - NULL ZBTB3 79842 genome.wustl.edu 37 11 62520487 62520487 + Missense_Mutation SNP A A T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_024784.3 -1 validated p.V267D 0.841 76 0% 82 32.9% - - benign(0.3) tolerated(0.08) neutral(0.393) NULL STX5 6811 genome.wustl.edu 37 11 62595058 62595058 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_003164.3 -1 validated p.R91C 1.000 147 0% 115 18.3% - - benign(0.015) tolerated(0.08) neutral(0.300) HMMPfam_Syntaxin,superfamily_t-snare proteins LOC100287771 100287771 genome.wustl.edu 37 11 63676565 63676565 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 XM_002343092.1 -1 model p.W37* 1.000 49 0% 37 18.9% - - - - - NULL VEGFB 7423 genome.wustl.edu 37 11 64003313 64003313 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_003377.3 +1 provisional p.R44 0.046 109 0% 92 15.2% - - - - - superfamily_Cystine-knot cytokines ARL2 402 genome.wustl.edu 37 11 64786118 64786118 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001667.2 +1 validated p.T84 0.036 47 0% 53 20.8% - - - - - HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases CAPN1 823 genome.wustl.edu 37 11 64955493 64955493 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_005186.2 +1 reviewed p.T304M 0.984 72 0% 42 16.7% - - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMPfam_Peptidase_C2,HMMSmart_CysPc,superfamily_SSF54001 GDPD5 81544 genome.wustl.edu 37 11 75153556 75153556 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_030792.6 -1 validated p.C340Y 1.000 49 0% 45 17.8% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_GDPD,superfamily_PLC-like phosphodiesterases UVRAG 7405 genome.wustl.edu 37 11 75622998 75622998 + Missense_Mutation SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_003369.3 +1 reviewed p.G170C 1.000 377 0.3% 248 17.3% - - possibly_damaging(0.549) tolerated(0.06) deleterious(0.509) NULL DLG2 1740 genome.wustl.edu 37 11 83344270 83344270 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001142699.1 -1 reviewed p.R642C 1.000 248 0% 175 18.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SH3-domain FAT3 120114 genome.wustl.edu 37 11 92498067 92498067 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001008781.2 +1 validated p.R1336H 1.000 174 0% 160 30.6% - - probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like GRIA4 2893 genome.wustl.edu 37 11 105782629 105782629 + Missense_Mutation SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001077244.1 +1 reviewed p.N433D 1.000 76 0% 51 17.6% - - possibly_damaging(0.873) deleterious(0) deleterious(0.784) NULL TMEM136 219902 genome.wustl.edu 37 11 120200701 120200701 + Missense_Mutation SNP C C A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_174926.1 +1 provisional p.P94H 0.994 324 0% 250 17.2% - - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_TRAM_LAG1_CLN8 ROBO4 54538 genome.wustl.edu 37 11 124754987 124754987 + Missense_Mutation SNP T T C novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_019055.5 -1 validated p.Q984R 0.000 36 0% 28 39.3% - - benign(0.026) tolerated(1) neutral(0.001) NULL SRPR 6734 genome.wustl.edu 37 11 126135906 126135906 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_003139.3 -1 reviewed p.R335C 1.000 144 0% 110 15.5% - - possibly_damaging(0.95) deleterious(0.05) deleterious(0.739) superfamily_SRP54 SNX19 399979 genome.wustl.edu 37 11 130777941 130777941 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_014758.2 -1 validated p.A691V 1.000 187 0.5% 138 16.7% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL SLC6A12 6539 genome.wustl.edu 37 12 307155 307155 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001122847.1 -1 validated p.A287 0.692 135 0% 95 22.1% - - - - - HMMPfam_SNF KCNA5 3741 genome.wustl.edu 37 12 5154823 5154823 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_002234.2 +1 reviewed p.G504R 0.999 120 0% 93 21.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 byCluster TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_033360.2 -1 reviewed p.G12V 1.000 283 0% 177 19.8% - - benign(0.048) deleterious(0) neutral(0.448) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases FAR2 55711 genome.wustl.edu 37 12 29446233 29446233 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_018099.3 +1 provisional p.L64 1.000 328 0% 266 13.9% - - - - - HMMPfam_NAD_binding_4,superfamily_NAD(P)-bd KIF21A 55605 genome.wustl.edu 37 12 39763583 39763583 + Missense_Mutation SNP A A T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_017641.3 -1 validated p.I133N 0.998 186 0% 131 25.2% - - probably_damaging(0.992) tolerated(0.52) neutral(0.456) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases ADAMTS20 80070 genome.wustl.edu 37 12 43824176 43824176 + Silent SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_025003.3 -1 validated p.A1120 0.648 381 0% 243 19.3% - - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ZC3H10 84872 genome.wustl.edu 37 12 56514509 56514509 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_032786.1 +1 provisional p.R55C 1.000 83 0% 75 22.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 SLC39A5 283375 genome.wustl.edu 37 12 56629416 56629416 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001135195.1 +1 validated p.G293R 0.988 111 0% 89 16.9% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Zip ANKRD52 283373 genome.wustl.edu 37 12 56638436 56638436 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_173595.3 -1 validated p.E908* 1.000 52 0% 47 17% - - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK BAZ2A 11176 genome.wustl.edu 37 12 57005806 57005806 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_013449.3 -1 validated p.A456T 0.389 315 0% 261 20.3% - - benign(0.001) tolerated(0.15) neutral(0.241) NULL OS9 10956 genome.wustl.edu 37 12 58089798 58089798 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_006812.3 +1 reviewed p.D153N 1.000 130 0% 96 25% - - benign(0) tolerated(0.24) neutral(0.037) HMMPfam_PRKCSH GRIP1 23426 genome.wustl.edu 37 12 66911700 66911700 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_021150.3 -1 reviewed p.P187S 1.000 148 0% 117 15.4% - - probably_damaging(1) tolerated(0.34) deleterious(0.523) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like PTPRQ 374462 genome.wustl.edu 37 12 81026012 81026012 + Missense_Mutation SNP G G A rs149569400 by1000genomes TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000266688 +1 known p.V1910I 0.999 401 0% 316 19.6% - - probably_damaging(0.995) tolerated(0.35) deleterious(0.478) NULL PPFIA2 8499 genome.wustl.edu 37 12 81741409 81741409 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_003625.2 -1 reviewed p.S712L 1.000 156 0% 105 18.1% - - possibly_damaging(0.671) tolerated(0.12) deleterious(0.498) NULL SART3 9733 genome.wustl.edu 37 12 108941742 108941742 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_014706.3 -1 reviewed p.D155 0.963 93 0% 65 13.8% - - - - - HMMSmart_SM00386,superfamily_TPR-like USP30 84749 genome.wustl.edu 37 12 109519157 109519157 + Missense_Mutation SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_032663.3 +1 validated p.T247A 1.000 416 0% 392 17.9% - - benign(0.015) tolerated(0.45) neutral(0.013) HMMPfam_UCH,superfamily_SSF54001 C12orf51 283450 genome.wustl.edu 37 12 112645741 112645741 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001109662.2 -1 validated p.R2268C 1.000 118 0% 99 18.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC60 160777 genome.wustl.edu 37 12 119954455 119954455 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_178499.3 +1 validated p.R304Q 0.986 158 0% 118 15.3% - - probably_damaging(0.999) tolerated(0.36) deleterious(0.510) NULL ATP6V0A2 23545 genome.wustl.edu 37 12 124235717 124235717 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_012463.3 +1 reviewed p.G666R 1.000 288 0% 243 16.9% - - probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_V_ATPase_I MMP17 4326 genome.wustl.edu 37 12 132326250 132326250 + Missense_Mutation SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_016155.4 +1 reviewed p.H263R 0.785 67 0% 45 26.7% - - benign(0) tolerated(0.32) neutral(0.024) "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" ZMYM2 7750 genome.wustl.edu 37 13 20625618 20625618 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_003453.2 +1 validated p.R780* 0.995 264 0% 201 17.4% - - - - - HMMPfam_zf-FCS,HMMSmart_TRASH GPR12 2835 genome.wustl.edu 37 13 27333568 27333568 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_005288.3 -1 validated p.A133T 1.000 51 0% 49 32.7% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like MYH7 4625 genome.wustl.edu 37 14 23894118 23894119 + Frame_Shift_Del DEL TC TC - novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_000257.2 -1 reviewed p.K847fs 1.000:1.000 - - - - - - - - - NULL PRKD1 5587 genome.wustl.edu 37 14 30046563 30046563 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_002742.2 -1 validated p.G874S 0.373 149 0% 115 16.5% - - benign(0) tolerated(0.73) neutral(0.002) NULL MTHFD1 4522 genome.wustl.edu 37 14 64867522 64867522 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_005956.3 +1 reviewed p.A18V 0.942 268 0% 219 20.5% - - benign(0.033) tolerated(0.06) neutral(0.324) HMMPfam_THF_DHG_CYH,superfamily_Aminoacid dehydrogenase-like N-terminal domain LOC100287214 100287214 genome.wustl.edu 37 14 65007726 65007726 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 XM_002343281.1 -1 model p.A490T 0.999 44 0% 51 15.7% - - - - - HMMPfam_NAD-GH ZFYVE26 23503 genome.wustl.edu 37 14 68251149 68251149 + Silent SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_015346.3 -1 reviewed p.H1176 0.001 51 0% 54 14.8% - - - - - NULL DCAF4 26094 genome.wustl.edu 37 14 73407009 73407009 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_015604.3 +1 reviewed p.T92M 1.000 84 0% 90 22.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL YLPM1 56252 genome.wustl.edu 37 14 75278374 75278374 + Silent SNP T T A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_019589.2 +1 validated p.G1760 0.096 147 0% 117 21.4% - - - - - NULL ADCK1 57143 genome.wustl.edu 37 14 78353506 78353506 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_020421.3 +1 validated p.V166M 0.998 85 0% 84 10.7% - - benign(0.212) tolerated(0.13) neutral(0.273) HMMPfam_ABC1,superfamily_Kinase_like SPATA7 55812 genome.wustl.edu 37 14 88904393 88904393 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_018418.4 +1 reviewed p.S476L 0.002 142 0% 87 14.9% - - possibly_damaging(0.68) deleterious(0.01) deleterious(0.648) NULL DDX24 57062 genome.wustl.edu 37 14 94528793 94528793 + Missense_Mutation SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_020414.3 -1 reviewed p.L298S 0.000 101 0% 81 19.8% - - benign(0.002) tolerated(0.11) neutral(0.272) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 SERPINA3 12 genome.wustl.edu 37 14 95081024 95081024 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001085.4 +1 reviewed p.T82 0.000 130 0% 102 22.5% - - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins TCL6 27004 genome.wustl.edu 37 14 96129003 96129005 + Splice_Site DEL TAT TAT - novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 TAT TAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000357168 +1 known NULL 0.010 - - - - - - - - - - ATG2B 55102 genome.wustl.edu 37 14 96773161 96773161 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_018036.5 -1 validated p.G1466S 0.850 119 0% 93 25.8% - - benign(0) tolerated(0.76) neutral(0.001) NULL CHRNA7 1139 genome.wustl.edu 37 15 32455506 32455506 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_000746.3 +1 reviewed p.H320 0.329 80 0% 57 26.3% - - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM ENSG00000221138 0 genome.wustl.edu 37 15 33256249 33256249 + RNA SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000408211 -1 novel NULL 0.013 237 1.3% 203 20.7% - - - - - - THBS1 7057 genome.wustl.edu 37 15 39879689 39879689 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_003246.2 +1 reviewed p.R421Q 0.996 31 0% 32 34.4% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat MAPKBP1 23005 genome.wustl.edu 37 15 42114483 42114483 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001128608.1 +1 validated p.A1037V 0.999 35 0% 27 14.8% - - benign(0.001) tolerated(0.21) neutral(0.044) NULL CTDSPL2 51496 genome.wustl.edu 37 15 44776539 44776539 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_016396.2 +1 validated p.R102W 1.000 223 0% 167 19.2% - - probably_damaging(0.997) deleterious(0.04) deleterious(0.815) NULL C15orf33 196951 genome.wustl.edu 37 15 49907356 49907356 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_152647.2 -1 validated p.R5* 0.000 180 0% 131 20.6% - - - - - NULL DTWD1 56986 genome.wustl.edu 37 15 49935649 49935649 + Silent SNP T T C novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001144955.1 +1 validated p.T263 0.949 83 0% 51 25.5% - - - - - HMMPfam_DTW WDR72 256764 genome.wustl.edu 37 15 53901736 53901736 + Missense_Mutation SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_182758.2 -1 validated p.S976P 1.000 180 0% 140 20% - - probably_damaging(0.991) tolerated(0.06) deleterious(0.766) NULL LOC100289289 100289289 genome.wustl.edu 37 15 62539746 62539746 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 XM_002343368.1 -1 model p.R998Q 0.897 72 0% 58 13.8% - - probably_damaging(0.959) tolerated(0.3) neutral(0.431) NULL PDCD7 10081 genome.wustl.edu 37 15 65412141 65412141 + Silent SNP T T C novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_005707.1 -1 reviewed p.R387 1.000 97 0% 93 21.5% - - - - - NULL HEXA 3073 genome.wustl.edu 37 15 72648912 72648912 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_000520.4 -1 reviewed p.V100 0.006 160 0% 141 14.9% - - - - - HMMPfam_Glyco_hydro_20b,superfamily_beta-N-acetylhexosaminidase-like domain PSTPIP1 9051 genome.wustl.edu 37 15 77310844 77310844 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_003978.3 +1 reviewed p.R62W 0.999 87 0% 82 19.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_FCH,HMMSmart_SM00055,superfamily_Prismane protein-like SLC28A1 9154 genome.wustl.edu 37 15 85488380 85488380 + Missense_Mutation SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_004213.3 +1 validated p.E633D 0.000 147 0% 116 17.2% - - benign(0.002) tolerated(0.56) neutral(0.006) NULL ASB7 140460 genome.wustl.edu 37 15 101152628 101152628 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_198243.2 +1 reviewed p.H69 0.995 205 0% 182 23.6% - - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat CHSY1 22856 genome.wustl.edu 37 15 101719159 101719159 + Silent SNP G G A rs181121069 by1000genomes TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000254190 -1 known p.Y281 0.929 313 0% 213 23% - - - - - HMMPfam_CHGN ITFG3 83986 genome.wustl.edu 37 16 312461 312461 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_032039.2 +1 validated p.E294K 0.018 61 0% 73 26% - - benign(0.004) tolerated(0.85) neutral(0.001) NULL SRRM2 23524 genome.wustl.edu 37 16 2812573 2812573 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_016333.3 +1 validated p.R682C 0.027 46 0% 39 28.2% - - unknown(0) - - NULL ZNF205 7755 genome.wustl.edu 37 16 3169746 3169746 + Missense_Mutation SNP A A T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001042428.1 +1 validated p.K362M 1.000 41 0% 27 22.2% - - possibly_damaging(0.469) deleterious(0) deleterious(0.599) superfamily_SSF57667 ZNF174 7727 genome.wustl.edu 37 16 3458397 3458397 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_003450.2 +1 validated p.V234 0.001 44 0% 35 31.4% - - - - - NULL SLX4 84464 genome.wustl.edu 37 16 3656556 3656556 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_032444.2 -1 provisional p.A227T 0.015 315 0% 292 17.5% - - benign(0.269) deleterious(0.02) neutral(0.412) NULL PDXDC1 23042 genome.wustl.edu 37 16 15102639 15102639 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_015027.2 +1 validated p.G195S 1.000 353 0% 338 22.5% - - probably_damaging(0.997) tolerated(0.09) deleterious(0.762) superfamily_PLP-dependent transferases DNAH3 55567 genome.wustl.edu 37 16 20955917 20955917 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_017539.1 -1 provisional p.N3804 0.998 227 0% 194 14.9% - - - - - HMMPfam_Dynein_heavy KIAA0556 23247 genome.wustl.edu 37 16 27789932 27789932 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_015202.2 +1 validated p.T1613 0.103 91 0% 66 21.2% - - - - - NULL SLC5A2 6524 genome.wustl.edu 37 16 31501614 31501614 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000431354 +1 known p.P619S 0.000 19 0% 27 22.2% - - - - - NULL IGHV3OR16-8 388255 genome.wustl.edu 37 16 33647270 33647270 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000438532 -1 known p.T110 0.995 125 0% 120 23.3% - - - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin TOX3 27324 genome.wustl.edu 37 16 52484450 52484450 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001080430.2 -1 reviewed p.S139 1.000 74 0% 83 21.7% - - - - - NULL POLR2C 5432 genome.wustl.edu 37 16 57503632 57503632 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_032940.2 +1 reviewed p.R133Q 1.000 89 0% 56 16.1% - - possibly_damaging(0.91) tolerated(0.43) neutral(0.376) superfamily_RBP11-like subunits of RNA polymerase,HMMPfam_RNA_pol_L,HMMPfam_RNA_pol_A_bac,superfamily_Insert subdomain of RNA polymerase alpha subunit,HMMSmart_SM00662 ZNF319 57567 genome.wustl.edu 37 16 58030956 58030956 + Missense_Mutation SNP T T C novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_020807.1 -1 provisional p.Q405R 1.000 43 0% 35 11.4% - - possibly_damaging(0.935) deleterious(0.04) deleterious(0.730) HMMSmart_ZnF_C2H2,superfamily_SSF57667 B3GNT9 84752 genome.wustl.edu 37 16 67183837 67183837 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_033309.2 -1 validated p.A184 0.286 24 0% 13 30.8% - - - - - HMMPfam_Galactosyl_T NFAT5 10725 genome.wustl.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_138713.2 +1 reviewed p.Q901in_frame_del 0.966:0.976:0.988 - - - - - - - - - NULL HYDIN 54768 genome.wustl.edu 37 16 71218887 71218887 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_032821.2 -1 validated p.P48S 1.000 160 0% 104 17.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MARVELD3 91862 genome.wustl.edu 37 16 71674575 71674575 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001017967.2 +1 validated p.T293I 0.000 66 0% 50 22% - - possibly_damaging(0.803) tolerated(0.3) neutral(0.331) HMMPfam_MARVEL PHLPP2 23035 genome.wustl.edu 37 16 71683657 71683657 + Silent SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_015020.2 -1 validated p.G1036 0.091 121 0% 118 16.1% - - - - - NULL WWOX 51741 genome.wustl.edu 37 16 78458921 78458921 + Missense_Mutation SNP C C A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_016373.1 +1 reviewed p.R254S 1.000 146 0% 116 22.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains KIAA0182 23199 genome.wustl.edu 37 16 85691002 85691002 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_014615.2 +1 validated p.P478S 1.000 75 0% 33 21.2% - - probably_damaging(1) tolerated(0.46) deleterious(0.512) NULL TIMM22 29928 genome.wustl.edu 37 17 902174 902174 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_013337.2 +1 provisional p.V132M 1.000 450 0% 467 20.6% - - possibly_damaging(0.898) deleterious(0.03) deleterious(0.719) HMMPfam_Tim17 RTN4RL1 146760 genome.wustl.edu 37 17 1840573 1840573 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_178568.2 -1 validated p.H181 0.820 27 0% 23 21.7% - - - - - HMMSmart_SM00369,superfamily_L domain-like SGSM2 9905 genome.wustl.edu 37 17 2270614 2270614 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_014853.2 +1 validated p.D446 1.000 64 0% 32 28.1% - - - - - NULL KIAA0664 23277 genome.wustl.edu 37 17 2594035 2594035 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_015229.3 -1 validated p.A1261 0.947 29 0% 34 35.3% - - - - - NULL ZZEF1 23140 genome.wustl.edu 37 17 3954272 3954272 + Missense_Mutation SNP C C A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_015113.3 -1 validated p.R1889M 1.000 105 0% 82 14.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SPNS3 201305 genome.wustl.edu 37 17 4356393 4356393 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_182538.4 +1 validated p.V336I 0.804 103 0% 68 22.1% - - benign(0.081) tolerated(0.4) neutral(0.022) HMMPfam_MFS_1,superfamily_MFS general substrate transporter DNAH2 146754 genome.wustl.edu 37 17 7720984 7720984 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_020877.2 +1 validated p.A3376T 0.927 71 0% 56 16.1% - - benign(0) tolerated(0.52) neutral(0.009) NULL CHD3 1107 genome.wustl.edu 37 17 7809893 7809893 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001005271.2 +1 reviewed p.R1520C 1.000 106 0% 92 19.6% - - probably_damaging(1) - - HMMPfam_DUF1086 MFSD6L 162387 genome.wustl.edu 37 17 8701063 8701063 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_152599.3 -1 validated p.P459L 0.982 34 0% 43 23.3% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_MFS_gen_substrate_transporter MYH2 4620 genome.wustl.edu 37 17 10435045 10435045 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001100112.1 -1 reviewed p.E868K 0.848 379 0.3% 349 15.8% - - benign(0) tolerated(0.91) - NULL ENSG00000205325 0 genome.wustl.edu 37 17 14673508 14673508 + Missense_Mutation SNP C C A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000379640 -1 known p.R119M 0.000 161 0% 138 18.1% - - unknown(0) - - NULL KIAA0100 9703 genome.wustl.edu 37 17 26970297 26970297 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_014680.2 -1 validated p.R94H 0.999 136 0% 113 19.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SLC35G3 146861 genome.wustl.edu 37 17 33521168 33521168 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_152462.2 -1 validated p.F53 1.000 150 0% 154 11.7% - - - - - HMMPfam_DUF6 MRM1 79922 genome.wustl.edu 37 17 34958427 34958427 + Missense_Mutation SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_024864.3 +1 validated p.Q63R 1.000 23 0% 24 29.2% - - benign(0) tolerated(1) - HMMPfam_SpoU_sub_bind,superfamily_L30e-like STXBP4 252983 genome.wustl.edu 37 17 53155450 53155450 + Missense_Mutation SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_178509.5 +1 validated p.Q400H 0.977 123 0% 110 10.9% - - benign(0.036) deleterious(0.01) neutral(0.408) NULL ERN1 2081 genome.wustl.edu 37 17 62149355 62149355 + Missense_Mutation SNP T T C novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001433.3 -1 reviewed p.Y155C 1.000 88 0% 101 12.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Quinoprotein alcohol dehydrogenase-like,HMMSmart_SM00564 DDX5 1655 genome.wustl.edu 37 17 62496409 62496409 + Missense_Mutation SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_004396.3 -1 validated p.R493S 1.000 106 0% 77 23.4% - - benign(0.055) tolerated(0.42) neutral(0.018) NULL GNA13 10672 genome.wustl.edu 37 17 63010509 63010509 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_006572.4 -1 validated p.R334C 1.000 188 0% 135 14.1% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases AXIN2 8313 genome.wustl.edu 37 17 63554093 63554093 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_004655.3 -1 reviewed p.G216R 1.000 180 0% 141 15.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ABCA8 10351 genome.wustl.edu 37 17 66914189 66914189 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_007168.2 -1 reviewed p.A642 0.678 198 0% 142 14.8% - - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases TNRC6C 57690 genome.wustl.edu 37 17 76082939 76082939 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001142640.1 +1 validated p.A1186 1.000 30 3.3% 40 27.5% - - - - - NULL RBFOX3 146713 genome.wustl.edu 37 17 77102736 77102736 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001082575.1 -1 validated p.F119 0.994 54 0% 50 16% - - - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 RNF213 57674 genome.wustl.edu 37 17 78341844 78341844 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000508628 +1 known p.R4019H 0.000 142 0% 124 21% - - possibly_damaging(0.738) deleterious(0.01) deleterious(0.675) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box RNF213 57674 genome.wustl.edu 37 17 78360198 78360198 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000508628 +1 known p.Y4896 0.015 67 0% 67 32.8% - - - - - NULL MYOM1 8736 genome.wustl.edu 37 18 3102488 3102488 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_003803.3 -1 reviewed p.E1187K 1.000 168 0% 145 19.3% - - benign(0.122) tolerated(0.34) neutral(0.033) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ANKRD12 23253 genome.wustl.edu 37 18 9254369 9254369 + Missense_Mutation SNP T T A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_015208.3 +1 validated p.D368E 0.998 166 0% 128 21.1% - - benign(0) tolerated(1) - superfamily_Ankyrin repeat CHMP1B 57132 genome.wustl.edu 37 18 11851766 11851766 + Missense_Mutation SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_020412.4 +1 validated p.G86C 1.000 73 0% 58 20.7% - - possibly_damaging(0.691) deleterious(0) deleterious(0.692) HMMPfam_Snf7 IMPA2 3613 genome.wustl.edu 37 18 12009941 12009941 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_014214.1 +1 validated p.T97M 1.000 80 0% 61 24.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Inositol_P,superfamily_Carbohydrate phosphatase ANKRD30B 374860 genome.wustl.edu 37 18 14784484 14784484 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001145029.1 +1 validated p.T541I 0.024 555 0% 507 21.5% - - benign(0.238) deleterious(0) deleterious(0.469) NULL KIAA1328 57536 genome.wustl.edu 37 18 34646956 34646956 + Missense_Mutation SNP C C A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_020776.1 +1 validated p.P227H 0.005 150 0% 156 16.7% - - probably_damaging(1) tolerated(0.28) deleterious(0.531) NULL RNF152 220441 genome.wustl.edu 37 18 59483488 59483488 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_173557.2 -1 validated p.P70L 1.000 114 0% 107 14% - - probably_damaging(0.998) tolerated(0.1) deleterious(0.761) superfamily_SSF57850 RTTN 25914 genome.wustl.edu 37 18 67781709 67781709 + Missense_Mutation SNP G G C novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_173630.3 -1 validated p.L1219V 1.000 205 0% 128 11.7% - - probably_damaging(0.99) tolerated(0.32) neutral(0.466) NULL MADCAM1 8174 genome.wustl.edu 37 19 501681 501681 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_130760.2 +1 reviewed p.P227L 0.223 155 0% 128 15.6% - - unknown(0) tolerated(0.5) - superfamily_Immunoglobulin REXO1 57455 genome.wustl.edu 37 19 1828055 1828055 + Missense_Mutation SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_020695.3 -1 validated p.L245I 0.909 43 0% 30 33.3% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL EEF2 1938 genome.wustl.edu 37 19 3984224 3984225 + Frame_Shift_Ins INS - - CCTT novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001961.3 -1 reviewed p.A43fs 0.998:1.000 - - - - - - - - - HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases UHRF1 29128 genome.wustl.edu 37 19 4950882 4950882 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000398240 +1 known p.Y577 1.000 114 0% 110 20.9% - - - - - HMMPfam_YDG_SRA,HMMSmart_SM00466 CLPP 8192 genome.wustl.edu 37 19 6366340 6366340 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_006012.2 +1 reviewed p.Y209 0.246 190 0% 125 17.6% - - - - - HMMPfam_CLP_protease,superfamily_SSF52096 VAV1 7409 genome.wustl.edu 37 19 6854030 6854030 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_005428.2 +1 reviewed p.S802L 1.000 93 0% 93 21.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,superfamily_SSF55550 MUC16 94025 genome.wustl.edu 37 19 9086934 9086934 + Silent SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_024690.2 -1 validated p.S1627 0.000 298 0.7% 265 19.6% - - - - - NULL DNM2 1785 genome.wustl.edu 37 19 10940819 10940819 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001005360.1 +1 reviewed p.R770* 1.000 110 0.9% 72 19.4% - - - - - NULL PRKCSH 5589 genome.wustl.edu 37 19 11548937 11548937 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_002743.2 +1 reviewed p.N114 1.000 84 0% 85 18.8% - - - - - NULL TNPO2 30000 genome.wustl.edu 37 19 12822205 12822205 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001136196.1 -1 validated p.R341H 1.000 118 0% 106 21.7% - - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) superfamily_ARM repeat RNASEH2A 10535 genome.wustl.edu 37 19 12918291 12918291 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_006397.2 +1 reviewed p.A128T 0.992 153 0% 135 19.3% - - benign(0.033) tolerated(0.12) neutral(0.262) HMMPfam_RNase_HII,superfamily_Ribonuclease H-like MAST1 22983 genome.wustl.edu 37 19 12963053 12963053 + Missense_Mutation SNP C C A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_014975.2 +1 validated p.P334H 1.000 46 0% 47 19.1% - - possibly_damaging(0.922) deleterious(0) deleterious(0.816) HMMPfam_DUF1908 ANO8 57719 genome.wustl.edu 37 19 17438610 17438610 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_020959.2 -1 validated p.A769V 1.000 56 0% 29 24.1% - - unknown(0) deleterious(0.01) - HMMPfam_DUF590 UNC13A 23025 genome.wustl.edu 37 19 17738353 17738353 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001080421.2 -1 validated p.N1383 0.996 48 0% 34 11.8% - - - - - HMMPfam_DUF1041 KIAA1683 80726 genome.wustl.edu 37 19 18368163 18368163 + Missense_Mutation SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001145304.1 -1 validated p.W1311R 0.982 80 0% 49 10.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases UPF1 5976 genome.wustl.edu 37 19 18976928 18976928 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_002911.3 +1 reviewed p.R1105W 1.000 52 0% 35 25.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SUGP2 10147 genome.wustl.edu 37 19 19120924 19120924 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001017392.3 -1 reviewed p.A693V 0.006 61 0% 50 28% - - benign(0) tolerated(1) - NULL GATAD2A 54815 genome.wustl.edu 37 19 19606898 19606898 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_017660.3 +1 provisional p.P265L 1.000 89 0% 62 27.4% - - probably_damaging(1) tolerated(1) deleterious(0.500) NULL ZNF43 7594 genome.wustl.edu 37 19 21991969 21991969 + Missense_Mutation SNP T T A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_003423.2 -1 validated p.E290D 0.771 89 0% 99 24.2% - - possibly_damaging(0.807) tolerated(0.14) deleterious(0.553) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF43 7594 genome.wustl.edu 37 19 21992137 21992137 + Missense_Mutation SNP T T A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_003423.2 -1 validated p.E234D 0.867 115 0% 113 19.5% - - possibly_damaging(0.845) tolerated(0.06) deleterious(0.647) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TMEM147 10430 genome.wustl.edu 37 19 36037642 36037642 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_032635.2 +1 provisional p.A92 0.983 87 0% 70 17.1% - - - - - HMMPfam_DUF2053 ZNF540 163255 genome.wustl.edu 37 19 38103388 38103388 + Missense_Mutation SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_152606.3 +1 validated p.T403A 0.003 126 0% 120 20% - - possibly_damaging(0.574) tolerated(0.48) neutral(0.208) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RYR1 6261 genome.wustl.edu 37 19 39019006 39019006 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_000540.2 +1 reviewed p.R3629W 0.999 31 0% 49 32.7% - - probably_damaging(1) - - NULL CAPN12 147968 genome.wustl.edu 37 19 39233142 39233142 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_144691.3 -1 validated p.A112T 1.000 103 0% 99 19.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_C2,HMMSmart_CysPc,superfamily_SSF54001 ARHGAP35 2909 genome.wustl.edu 37 19 47502597 47502597 + Missense_Mutation SNP A A C novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_004491.4 +1 reviewed p.K1358T 1.000 118 0% 130 19.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP SAE1 10055 genome.wustl.edu 37 19 47706933 47706933 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000270225 +1 known p.C295Y 1.000 360 0% 313 19.2% - - benign(0.223) deleterious(0.01) neutral(0.428) superfamily_Activating enzymes of the ubiquitin-like proteins TRPM4 54795 genome.wustl.edu 37 19 49703585 49703585 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_017636.2 +1 provisional p.R892C 1.000 107 0% 100 19% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans MED25 81857 genome.wustl.edu 37 19 50335634 50335635 + Frame_Shift_Del DEL TC TC - novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_030973.3 +1 reviewed p.L483fs 1.000:1.000 - - - - - - - - - NULL SIGLEC14 100049587 genome.wustl.edu 37 19 52149234 52149234 + Silent SNP T T G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001098612.1 -1 validated p.P167 0.000 103 0% 90 20% - - - - - HMMPfam_ig,superfamily_SSF48726 ZNF600 162966 genome.wustl.edu 37 19 53269459 53269459 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_198457.2 -1 validated p.R517H 0.397 171 0% 183 18.6% - - benign(0.011) tolerated(0.15) neutral(0.241) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF274 10782 genome.wustl.edu 37 19 58718313 58718313 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000424679 +1 known p.R161 0.124 38 0% 37 27% - - - - - HMMPfam_SCAN,HMMSmart_SM00431 ANKRD5 63926 genome.wustl.edu 37 20 10025147 10025147 + Missense_Mutation SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_022096.4 +1 validated p.R218G 0.987 280 0% 231 16.9% - - probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat EFCAB8 388795 genome.wustl.edu 37 20 31506228 31506228 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000440534 +1 known p.R708W 0.000 80 0% 69 10.1% - - probably_damaging(0.986) deleterious(0.02) deleterious(0.818) NULL MIR499A 574501 genome.wustl.edu 37 20 33578188 33578188 + RNA SNP C C A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000384903 +1 known NULL 0.995 63 0% 44 38.6% - - - - - - FAM65C 140876 genome.wustl.edu 37 20 49204376 49204376 + Silent SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_080829.2 -1 predicted p.A901 0.245 51 0% 32 25% - - - - - NULL PCK1 5105 genome.wustl.edu 37 20 56140618 56140618 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_002591.3 +1 reviewed p.R543W 0.953 71 0% 66 21.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PEPCK,superfamily_SSF53795 LAMA5 3911 genome.wustl.edu 37 20 60890195 60890195 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_005560.3 -1 reviewed p.V2646M 0.230 19 0% 20 20% - - possibly_damaging(0.861) deleterious(0.01) deleterious(0.739) HMMPfam_Laminin_II MRPL39 54148 genome.wustl.edu 37 21 26978910 26978910 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_080794.3 -1 reviewed p.R44Q 0.999 148 0% 135 14.8% - - benign(0.267) tolerated(0.16) neutral(0.087) NULL HUNK 30811 genome.wustl.edu 37 21 33371224 33371224 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_014586.1 +1 validated p.H624 0.992 64 0% 50 24% - - - - - NULL MCM3AP 8888 genome.wustl.edu 37 21 47692708 47692708 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_003906.3 -1 reviewed p.T744 0.982 66 0% 47 25.5% - - - - - HMMPfam_SAC3_GANP CLTCL1 8218 genome.wustl.edu 37 22 19230452 19230452 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_007098.3 -1 reviewed p.R176H 1.000 125 0% 113 20.4% - - benign(0.107) tolerated(0.06) neutral(0.331) HMMPfam_Clathrin_propel,superfamily_Clathrin heavy-chain terminal domain SEPT5 5413 genome.wustl.edu 37 22 19709217 19709217 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_002688.4 +1 reviewed p.Q258* 0.993 48 0% 33 12.1% - - - - - HMMPfam_Septin,superfamily_SSF52540 SMARCB1 6598 genome.wustl.edu 37 22 24143232 24143232 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_003073.3 +1 reviewed p.R155H 1.000 103 0% 90 25.6% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_SNF5 GGT1 2678 genome.wustl.edu 37 22 25007109 25007109 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001032364.2 +1 reviewed p.G21S 0.087 76 0% 44 20.5% - - benign(0.099) tolerated(0.55) neutral(0.014) NULL CRYBB1 1414 genome.wustl.edu 37 22 27008079 27008079 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001887.3 -1 reviewed p.R86C 0.860 63 0% 51 25.5% - - benign(0.127) tolerated(0.25) neutral(0.048) HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF DEPDC5 9681 genome.wustl.edu 37 22 32217606 32217606 + Silent SNP T T C novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 ENST00000433147 +1 known p.S61P 0.963 74 0% 63 15.9% - - - - - NULL TIMP3 7078 genome.wustl.edu 37 22 33255314 33255314 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_000362.4 +1 reviewed p.R196* 1.000 56 0% 45 15.6% - - - - - superfamily_TIMP-like RBFOX2 23543 genome.wustl.edu 37 22 36205826 36205826 + Splice_Site SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001082578.1 -1 reviewed e3+1 1.000 401 0.5% 338 18.6% - - - - - - KCNJ4 3761 genome.wustl.edu 37 22 38823767 38823767 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_004981.1 -1 reviewed p.A124V 1.000 33 0% 18 27.8% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_IRK,superfamily_SSF81324 MCAT 27349 genome.wustl.edu 37 22 43529321 43529321 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_173467.4 -1 reviewed p.V301I 1.000 109 0% 90 17.8% - - probably_damaging(0.992) tolerated(0.13) deleterious(0.700) HMMPfam_Acyl_transf_1,superfamily_FabD/lysophospholipase-like PKDREJ 10343 genome.wustl.edu 37 22 46655216 46655216 + Missense_Mutation SNP A A T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_006071.1 -1 reviewed p.V1335D 0.029 94 0% 79 20.3% - - possibly_damaging(0.945) deleterious(0) deleterious(0.834) HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) SHANK3 85358 genome.wustl.edu 37 22 51143398 51143398 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001080420.1 +1 reviewed p.G651R 1.000 100 0% 75 29.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like AKAP17A 8227 genome.wustl.edu 37 X 1718128 1718128 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_005088.2 +1 validated p.E319* 0.970 103 0% 85 20% - - - - - NULL RPS6KA3 6197 genome.wustl.edu 37 X 20212320 20212320 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_004586.2 -1 reviewed p.R158H 1.000 226 0% 147 20.4% - - probably_damaging(1) tolerated(0.67) deleterious(0.502) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CNKSR2 22866 genome.wustl.edu 37 X 21627228 21627228 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_014927.3 +1 reviewed p.R729* 1.000 61 0% 44 27.3% - - - - - NULL DCAF8L1 139425 genome.wustl.edu 37 X 27998497 27998498 + Frame_Shift_Ins INS - - T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001017930.1 -1 reviewed p.D318fs 0.996:0.990 - - - - - - - - - superfamily_WD40_like TAB3 257397 genome.wustl.edu 37 X 30870992 30870992 + Missense_Mutation SNP T T C novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_152787.3 -1 reviewed p.E538G 1.000 265 0% 211 20.4% - - possibly_damaging(0.947) tolerated(0.14) deleterious(0.640) NULL RBM10 8241 genome.wustl.edu 37 X 47045764 47045764 + Missense_Mutation SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_005676.3 +1 reviewed p.Q882R 1.000 49 0% 49 14.3% - - possibly_damaging(0.764) deleterious(0.01) deleterious(0.689) HMMPfam_G-patch,HMMSmart_SM00443 UBA1 7317 genome.wustl.edu 37 X 47060384 47060384 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_003334.3 +1 reviewed p.T191M 1.000 110 0% 102 14.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ThiF,superfamily_MoeB UBA1 7317 genome.wustl.edu 37 X 47069479 47069479 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_003334.3 +1 reviewed p.S719L 0.879 49 0% 62 16.1% - - benign(0.062) tolerated(0.1) neutral(0.290) superfamily_MoeB KCND1 3750 genome.wustl.edu 37 X 48825859 48825859 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_004979.4 -1 reviewed p.P274S 1.000 54 0% 55 12.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels GSPT2 23708 genome.wustl.edu 37 X 51488280 51488280 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_018094.4 +1 reviewed p.R520C 1.000 241 0% 215 19.5% - - probably_damaging(0.997) deleterious(0.04) deleterious(0.815) HMMPfam_GTP_EFTU_D3,superfamily_Elong_init_C KDM5C 8242 genome.wustl.edu 37 X 53224555 53224555 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_004187.3 -1 reviewed p.G1053D 1.000 147 0% 130 17.7% - - benign(0.03) tolerated(0.53) neutral(0.009) HMMPfam_PLU-1 IQSEC2 23096 genome.wustl.edu 37 X 53279553 53279553 + Silent SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001111125.1 -1 validated p.Q735 1.000 74 0% 49 26.5% - - - - - NULL WNK3 65267 genome.wustl.edu 37 X 54259388 54259388 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_020922.4 -1 reviewed p.R1565H 1.000 282 0% 201 18.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ITIH6 347365 genome.wustl.edu 37 X 54785188 54785188 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_198510.2 -1 reviewed p.R440H 1.000 97 0% 52 17.3% - - benign(0.046) deleterious(0.03) neutral(0.367) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 ZXDA 7789 genome.wustl.edu 37 X 57935669 57935669 + Missense_Mutation SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_007156.4 -1 reviewed p.C396R 1.000 284 0% 243 21% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LAS1L 81887 genome.wustl.edu 37 X 64744126 64744126 + Silent SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_031206.4 -1 validated p.N370 0.006 47 0% 36 16.7% - - - - - NULL KIF4A 24137 genome.wustl.edu 37 X 69639595 69639595 + Missense_Mutation SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_012310.4 +1 reviewed p.S1153G 0.742 143 0.7% 135 14.8% - - benign(0.228) deleterious(0.01) neutral(0.428) NULL ACRC 93953 genome.wustl.edu 37 X 70823866 70823866 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_052957.4 +1 validated p.D247N 0.006 172 0% 173 16.2% - - unknown(0) tolerated(0.13) - NULL ZMAT1 84460 genome.wustl.edu 37 X 101138793 101138793 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001011657.2 -1 reviewed p.Q536* 0.371 674 0% 560 19.3% - - - - - NULL NKRF 55922 genome.wustl.edu 37 X 118726363 118726363 + Missense_Mutation SNP T T C novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_017544.3 -1 reviewed p.H33R 1.000 321 0% 251 21.1% - - benign(0) tolerated(0.65) neutral(0.003) NULL CUL4B 8450 genome.wustl.edu 37 X 119672056 119672056 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_003588.3 -1 reviewed p.A639T 1.000 223 0% 189 21.2% - - benign(0.015) tolerated(0.45) neutral(0.013) HMMPfam_Cullin,HMMSmart_SM00182,superfamily_Cullin homology domain STAG2 10735 genome.wustl.edu 37 X 123196778 123196778 + Silent SNP A A G novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_001042749.1 +1 validated p.T555 0.303 206 0% 167 19.8% - - - - - superfamily_ARM-type_fold DCAF12L1 139170 genome.wustl.edu 37 X 125686197 125686197 + Missense_Mutation SNP C C T novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_178470.4 -1 reviewed p.R132H 0.000 74 0% 78 23.1% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) superfamily_WD40_like F9 2158 genome.wustl.edu 37 X 138643994 138643994 + Nonsense_Mutation SNP C C T rs137852261 TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_000133.3 +1 reviewed p.R384* 0.749 163 0% 129 19.4% - - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases FMR1NB 158521 genome.wustl.edu 37 X 147106456 147106456 + Missense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_152578.2 +1 validated p.R235Q 0.000 213 0% 183 13.1% - - probably_damaging(0.997) tolerated(0.41) deleterious(0.481) NULL HCFC1 3054 genome.wustl.edu 37 X 153220633 153220633 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UL-01A-11D-A10G-09 TCGA-BS-A0UL-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 208d39f1-770f-4d99-97e0-9edb4f1ff191 849accb8-117f-4ba9-bc8f-0e71ce20eb35 NM_005334.2 -1 reviewed p.R1073* 0.162 144 0% 127 21.3% - - - - - NULL