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 ZFYVE9 9372 genome.wustl.edu 37 1 52798578 52798578 + Missense_Mutation SNP C C G novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_004799.2 +1 reviewed p.Q1193E 1.000 109 0% 37 18.9% 15 13.3% possibly_damaging(0.702) deleterious(0.01) deleterious(0.658) NULL ABCA4 24 genome.wustl.edu 37 1 94520823 94520823 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_000350.2 -1 reviewed p.R811C 1.000 48 0% 26 38.5% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL RYR2 6262 genome.wustl.edu 37 1 237780625 237780625 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_001035.2 +1 reviewed p.R1919W 1.000 100 0% 29 34.5% 0 - probably_damaging(1) - - NULL OR2C3 81472 genome.wustl.edu 37 1 247695780 247695780 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_198074.4 -1 validated p.V12F 0.000 65 0% 70 40% 0 - benign(0.293) tolerated(0.34) neutral(0.113) superfamily_SSF81321 C2orf71 388939 genome.wustl.edu 37 2 29296591 29296591 + Silent SNP A A C novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_001029883.1 -1 provisional p.P179 0.995 164 0% 256 21.9% 0 - - - - NULL OR5AC2 81050 genome.wustl.edu 37 3 97806608 97806608 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_054106.1 +1 provisional p.A198T 0.000 122 0% 52 38.5% 0 - benign(0.001) tolerated(0.11) neutral(0.272) HMMPfam_7tm_1,superfamily_SSF81321 PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_006218.2 +1 reviewed p.E542K 1.000 223 0% 42 33.3% 13 53.8% probably_damaging(0.989) deleterious(0.03) deleterious(0.804) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold LMLN 89782 genome.wustl.edu 37 3 197703477 197703477 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_001136049.2 +1 reviewed p.A147E 1.000 98 0% 81 48.1% 0 - benign(0.001) tolerated(1) - "superfamily_Metalloproteases (""zincins"") catalytic domain" FBXW7 55294 genome.wustl.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_033632.2 -1 reviewed p.R465C 1.000 212 0.5% 40 42.5% 14 35.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 FAT2 2196 genome.wustl.edu 37 5 150925331 150925331 + Missense_Mutation SNP A A T novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_001447.2 -1 reviewed p.V1786E 0.997 133 0% 54 29.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Cadherin,superfamily_Cadherin-like FOXI1 2299 genome.wustl.edu 37 5 169533528 169533528 + Silent SNP C C T novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_012188.4 +1 reviewed p.D189 0.996 30 0% 71 43.7% 0 - - - - "HMMPfam_Fork_head,HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain" HIST1H2AK 8330 genome.wustl.edu 37 6 27805781 27805781 + Missense_Mutation SNP G G C novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_003510.2 -1 reviewed p.Q113E 1.000 82 0% 91 45.1% 2 0% benign(0.17) deleterious(0) neutral(0.460) HMMSmart_SM00414,superfamily_Histone-fold LTA 4049 genome.wustl.edu 37 6 31541100 31541100 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_000595.2 +1 reviewed p.T83M 0.406 54 1.9% 79 39.2% 1 0% probably_damaging(0.999) tolerated(0.21) deleterious(0.534) HMMPfam_TNF,HMMSmart_SM00207,superfamily_TNF-like IBTK 25998 genome.wustl.edu 37 6 82950066 82950066 + Silent SNP A A G novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_015525.2 -1 reviewed p.T46 0.989 229 0.4% 155 25.2% 14 28.5% - - - superfamily_Ankyrin repeat COBL 23242 genome.wustl.edu 37 7 51095654 51095654 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_015198.3 -1 validated p.G1047S 0.000 104 0% 62 35.5% 21 61.9% benign(0) tolerated(0.43) neutral(0.013) NULL AKR1B1 231 genome.wustl.edu 37 7 134134544 134134545 + Frame_Shift_Del DEL CC CC - novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 CC CC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_001628.2 -1 reviewed p.G119fs 0.001:0.992 - - - - - - - - - HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase NOBOX 135935 genome.wustl.edu 37 7 144098554 144098554 + Silent SNP C C T novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_001080413.2 -1 provisional p.P143 0.000 22 0% 53 30.2% 0 - - - - NULL GIMAP6 474344 genome.wustl.edu 37 7 150325061 150325061 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_024711.4 -1 reviewed p.E209K 0.576 79 0% 27 48.1% 2 0% benign(0.207) tolerated(0.27) neutral(0.054) HMMPfam_AIG1,superfamily_P-loop containing nucleoside triphosphate hydrolases LPL 4023 genome.wustl.edu 37 8 19813497 19813497 + Missense_Mutation SNP G G T novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 ENST00000311322 +1 known p.K307N 1.000 105 0% 19 57.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases PDP1 54704 genome.wustl.edu 37 8 94930118 94930118 + Silent SNP G G C novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 ENST00000396200 +1 known p.S18 1.000 145 0% 291 29.9% 5 60% - - - NULL C1QL3 389941 genome.wustl.edu 37 10 16562683 16562683 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_001010908.1 -1 validated p.A128S 1.000 27 0% 52 21.2% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like INSC 387755 genome.wustl.edu 37 11 15197353 15197353 + Missense_Mutation SNP C C G novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_001031853.3 +1 provisional p.C88W 0.943 42 0% 41 36.6% 1 0% probably_damaging(0.989) tolerated(0.07) deleterious(0.758) NULL SRPR 6734 genome.wustl.edu 37 11 126135707 126135709 + In_Frame_Del DEL CCA CCA - novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 CCA CCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_003139.3 -1 reviewed p.V354in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_SRP54 LRTM2 654429 genome.wustl.edu 37 12 1940175 1940175 + Missense_Mutation SNP C C G novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_001039029.2 +1 validated p.R48G 0.288 35 0% 43 27.9% 0 - benign(0.003) tolerated(0.36) neutral(0.020) HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like TAPBPL 55080 genome.wustl.edu 37 12 6571287 6571287 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_018009.4 +1 validated p.R460H 0.000 20 0% 30 26.7% 55 32.7% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL CHD4 1108 genome.wustl.edu 37 12 6696686 6696686 + Missense_Mutation SNP T T G novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_001273.2 -1 reviewed p.H1248P 1.000 168 0% 143 38.5% 258 40.3% probably_damaging(0.996) tolerated(0.05) deleterious(0.807) NULL DTX1 1840 genome.wustl.edu 37 12 113534660 113534660 + Silent SNP C C T novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_004416.2 +1 reviewed p.H593 0.986 9 0.000 18 0.556 18 16.6% - - - NULL IPO4 79711 genome.wustl.edu 37 14 24653953 24653953 + Silent SNP G G C novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_024658.3 -1 validated p.A513 0.997 19 0% 33 33.3% 68 50% - - - superfamily_ARM repeat DICER1 23405 genome.wustl.edu 37 14 95560482 95560482 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_030621.3 -1 reviewed p.R1703C 1.000 44 0% 12 33.3% 12 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ribonuclease_3,HMMSmart_RIBOc,PatternScan_RNASE_3_1,superfamily_RNase_III FAN1 22909 genome.wustl.edu 37 15 31197155 31197155 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_014967.4 +1 reviewed p.V97I 0.000 154 0% 155 16.1% 6 0% benign(0.002) tolerated(0.11) neutral(0.272) NULL PAQR5 54852 genome.wustl.edu 37 15 69689866 69689866 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_001104554.1 +1 validated p.Y191C 0.989 242 0% 208 45.2% 27 48.1% possibly_damaging(0.92) deleterious(0.03) deleterious(0.736) HMMPfam_HlyIII PIEZO1 9780 genome.wustl.edu 37 16 88783277 88783277 + Silent SNP C C G novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 ENST00000451779 -1 known p.P1767 0.983 16 0% 29 31% 74 37.8% - - - NULL LEPREL4 10609 genome.wustl.edu 37 17 39967129 39967129 + Missense_Mutation SNP T T G novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_006455.2 -1 validated p.Y258S 1.000 24 0% 21 19% 32 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SCRN2 90507 genome.wustl.edu 37 17 45915919 45915920 + In_Frame_Ins INS - - AAG novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_138355.3 -1 validated p.305in_frame_insL 1.000:1.000 - - - - - - - - - NULL GNA13 10672 genome.wustl.edu 37 17 63010425 63010425 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_006572.4 -1 validated p.V362M 1.000 115 0.9% 92 20.7% 49 20.4% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAI2 64446 genome.wustl.edu 37 17 72277980 72277980 + Silent SNP C C G novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_023036.4 +1 reviewed p.V8 0.045 20 0% 30 56.7% 0 - - - - NULL EFCAB8 388795 genome.wustl.edu 37 20 31481057 31481057 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 ENST00000440534 +1 known p.T279I 0.000 78 0% 43 37.2% 0 - benign(0.179) tolerated(0.16) neutral(0.076) superfamily_WD40 repeat-like ADRM1 11047 genome.wustl.edu 37 20 60881357 60881358 + In_Frame_Ins INS - - GAACTCTCT rs190468988 by1000genomes TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_007002.2 +1 reviewed p.148in_frame_insELS 0.973:1.000 - - - - - - - - - HMMPfam_ARM_1 RAI2 10742 genome.wustl.edu 37 X 17819813 17819813 + Silent SNP C C T novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_021785.4 -1 reviewed p.P106 0.003 29 0% 20 45% 181 95.5% - - - NULL DMD 1756 genome.wustl.edu 37 X 32430134 32430193 + Splice_Site DEL CTAGACTCTTCCACAATCACCTTTTTGTAAGACAGATTTCGCAGCTTCCTGGCACTCATT CTAGACTCTTCCACAATCACCTTTTTGTAAGACAGATTTCGCAGCTTCCTGGCACTCATT - novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 CTAGACTCTTCCACAATCACCTTTTTGTAAGACAGATTTCGCAGCTTCCTGGCACTCATT CTAGACTCTTCCACAATCACCTTTTTGTAAGACAGATTTCGCAGCTTCCTGGCACTCATT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_004012.3 -1 reviewed e2-1 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.996:0.756:0.959:0.995:0.996:0.997:0.995:0.873:0.948:0.943:0.947:0.971:0.996:1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - - MSN 4478 genome.wustl.edu 37 X 64956728 64956730 + In_Frame_Del DEL AGG AGG - novel TCGA-D1-A0ZP-01A-21D-A10M-09 TCGA-D1-A0ZP-10A-01D-A10M-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cc29f6ff-fca8-4a3b-8389-5ba057ef2180 25957f01-5985-4cf9-ad34-7d47e9ef2f27 NM_002444.2 +1 reviewed p.E346in_frame_del 1.000:0.998:1.000 - - - - - - - - - HMMPfam_ERM,superfamily_SSF50729