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 GTF2B 2959 genome.wustl.edu 37 1 89325589 89325589 + Missense_Mutation SNP C C T novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_001514.5 -1 reviewed p.E171K 1.000 267 0% 287 15.3% 8 0% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMSmart_SM00385,superfamily_Cyclin-like,HMMPfam_TFIIB DCST1 149095 genome.wustl.edu 37 1 155014046 155014046 + Silent SNP G G A novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_152494.2 +1 validated p.S235 0.984 52 0% 77 46.8% 0 - - - - NULL LOC648822 648822 genome.wustl.edu 37 1 155120990 155120990 + Missense_Mutation SNP C C T novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 XM_001718420.1 +1 model p.R9C 0.430 31 0% 75 42.7% 0 - - - - NULL ACTN2 88 genome.wustl.edu 37 1 236918491 236918491 + Missense_Mutation SNP C C T novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_001103.2 +1 reviewed p.T716M 1.000 212 0% 270 36.7% 2 0% probably_damaging(0.954) deleterious(0) deleterious(0.842) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat ARHGAP25 9938 genome.wustl.edu 37 2 69053219 69053219 + Missense_Mutation SNP C C T novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_001007231.2 +1 validated p.R611C 1.000 418 0% 554 38.3% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ANKRD36BP2 645784 genome.wustl.edu 37 2 89084249 89084249 + RNA SNP C C T novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NR_015424.1 +1 predicted NULL 0.000 143 0% 138 37% 0 - - - - - PIK3CA 5290 genome.wustl.edu 37 3 178921552 178921552 + Missense_Mutation SNP A A T novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_006218.2 +1 reviewed p.N345I 1.000 137 0% 140 38.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_C2,HMMSmart_PI3K_C2,superfamily_C2_CaLB PITX2 5308 genome.wustl.edu 37 4 111542361 111542361 + Missense_Mutation SNP C C G novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_000325.5 -1 reviewed p.E124Q 1.000 27 0% 34 35.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like PCDHB15 56121 genome.wustl.edu 37 5 140627002 140627002 + Missense_Mutation SNP C C T rs17844634 TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_018935.2 +1 reviewed p.A619V 0.432 56 0% 59 25.4% 26 0% possibly_damaging(0.89) tolerated(0.07) deleterious(0.669) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin TCERG1 10915 genome.wustl.edu 37 5 145862223 145862223 + Missense_Mutation SNP G G A novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_006706.3 +1 reviewed p.R652Q 1.000 240 0% 218 40.8% 5 60% unknown(0) tolerated(0.06) - superfamily_FF domain PDE6A 5145 genome.wustl.edu 37 5 149313501 149313501 + Missense_Mutation SNP G G A novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_000440.2 -1 reviewed p.R237C 0.741 38 0% 42 38.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF55781 LRFN2 57497 genome.wustl.edu 37 6 40400623 40400623 + Missense_Mutation SNP C C T novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_020737.1 -1 provisional p.G77E 0.968 35 0% 48 47.9% 0 - benign(0.218) deleterious(0.04) neutral(0.370) HMMSmart_SM00369,superfamily_L domain-like CEP41 95681 genome.wustl.edu 37 7 130051012 130051012 + Silent SNP G G C novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_018718.1 -1 provisional p.L76 0.929 326 0% 332 42.2% 3 66.6% - - - superfamily_Rhodanese/Cell cycle control phosphatase PRSS37 136242 genome.wustl.edu 37 7 141537752 141537752 + Missense_Mutation SNP G G A novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_001008270.2 -1 validated p.P113L 0.000 219 0% 218 17.9% 0 - benign(0) tolerated(0.12) neutral(0.261) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys CBWD1 55871 genome.wustl.edu 37 9 154618 154618 + Nonstop_Mutation SNP T T G novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 ENST00000377447 -1 known p.*251Y 0.006 78 0% 62 32.3% 0 - - - - NULL HSPA5 3309 genome.wustl.edu 37 9 128003035 128003035 + Missense_Mutation SNP C C T novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_005347.3 -1 validated p.V92I 1.000 80 0% 97 54.6% 1227 96.6% benign(0.004) tolerated(0.85) neutral(0.001) HMMPfam_HSP70,superfamily_Actin-like ATPase domain LOC645954 645954 genome.wustl.edu 37 10 30974305 30974305 + RNA SNP C C G novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 XR_017086.3 +1 model NULL 1.000 62 0% 93 43% 18 0% - - - - C11orf48 79081 genome.wustl.edu 37 11 62430624 62430624 + Missense_Mutation SNP G G T novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_024099.3 -1 validated p.P257T 0.915 56 0% 101 42.6% 86 50% unknown(0) - - NULL FIBP 9158 genome.wustl.edu 37 11 65653878 65653878 + Missense_Mutation SNP G G A novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_198897.1 -1 reviewed p.R143W 1.000 81 0% 127 17.3% 102 17.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_FIBP CATSPER1 117144 genome.wustl.edu 37 11 65792818 65792818 + Missense_Mutation SNP G G A novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_053054.3 -1 reviewed p.R345C 0.000 28 0% 37 37.8% 0 - probably_damaging(0.983) deleterious(0.01) deleterious(0.835) superfamily_Voltage-gated potassium channels CHD4 1108 genome.wustl.edu 37 12 6701583 6701583 + Missense_Mutation SNP C C T novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_001273.2 -1 reviewed p.R975H 1.000 183 0% 326 41.7% 78 47.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF2_N LRP6 4040 genome.wustl.edu 37 12 12339881 12339881 + Missense_Mutation SNP A A C novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_002336.2 -1 reviewed p.F274V 1.000 521 0% 716 34.9% 0 - benign(0.07) tolerated(0.19) neutral(0.054) HMMPfam_Ldl_recept_b,superfamily_YWTD domain KRT83 3889 genome.wustl.edu 37 12 52708439 52708439 + Silent SNP G G A novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_002282.3 -1 reviewed p.G486 0.000 28 0% 30 56.7% 0 - - - - NULL USP15 9958 genome.wustl.edu 37 12 62783435 62783435 + Missense_Mutation SNP G G C novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_006313.1 +1 provisional p.M507I 1.000 322 0% 309 35.9% 3 66.6% benign(0) tolerated(0.33) neutral(0.024) HMMPfam_UCH,superfamily_RNA3apos_cycl/enolpyr_transf_A/B,superfamily_SSF54001 SLC46A3 283537 genome.wustl.edu 37 13 29287613 29287613 + Silent SNP T T C novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_001135919.1 -1 validated p.T88 0.000 65 0% 81 34.6% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter CHAMP1 283489 genome.wustl.edu 37 13 115089640 115089640 + Missense_Mutation SNP G G T novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_032436.2 +1 validated p.S108I 0.998 401 0.2% 502 17.3% 6 50% possibly_damaging(0.507) tolerated(0.06) deleterious(0.492) NULL RIN3 79890 genome.wustl.edu 37 14 93154538 93154540 + In_Frame_Del DEL GGC GGC - rs148538588 byCluster;by1000genomes TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_024832.3 +1 validated p.G970in_frame_del 0.984:0.981:0.979 - - - - - - - - - NULL TLN2 83660 genome.wustl.edu 37 15 62942372 62942372 + Missense_Mutation SNP C C G novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_015059.2 +1 reviewed p.R76G 1.000 134 0% 146 44.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ENSG00000184730 0 genome.wustl.edu 37 16 28507445 28507445 + Missense_Mutation SNP G G C novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 ENST00000431282 +1 known p.E352D 0.310 14 0% 43 23.3% 3 0% benign(0) tolerated(0.31) neutral(0.027) NULL RPGRIP1L 23322 genome.wustl.edu 37 16 53726272 53726272 + Missense_Mutation SNP C C T novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_015272.2 -1 reviewed p.A79T 1.000 219 0% 171 34.5% 1 0% probably_damaging(1) tolerated(0.22) deleterious(0.542) NULL TP53 7157 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 byCluster TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_000546.4 -1 reviewed p.R248W 1.000 85 0% 78 56.4% 120 95% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53 PPP2R1A 5518 genome.wustl.edu 37 19 52715971 52715971 + Missense_Mutation SNP C C G novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_014225.5 +1 reviewed p.P179R 1.000 82 0% 91 42.9% 349 46.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat TMC4 147798 genome.wustl.edu 37 19 54671947 54671961 + In_Frame_Del DEL CAGGTAGGTGACCGC CAGGTAGGTGACCGC - novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 CAGGTAGGTGACCGC CAGGTAGGTGACCGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_001145303.1 -1 validated p.AVTYL251in_frame_del 0.997:1.000:1.000:1.000:1.000:1.000:0.992:0.932:0.436:0.423:0.191:0.002:0.000:0.667:0.727 - - - - - - - - - NULL FOXA2 3170 genome.wustl.edu 37 20 22563345 22563345 + Nonsense_Mutation SNP G G A novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_021784.4 -1 reviewed p.Q179* 1.000 101 0% 127 31.5% 12 66.6% - - - HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 CTSA 5476 genome.wustl.edu 37 20 44520238 44520240 + In_Frame_Del DEL CTG CTG - rs11467527 byCluster;by1000genomes TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_000308.2 +1 reviewed p.L32in_frame_del 0.155:0.311:0.361 - - - - - - - - - NULL NPBWR2 2832 genome.wustl.edu 37 20 62737797 62737799 + In_Frame_Del DEL AGA AGA - novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_005286.2 -1 reviewed p.F129in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ETS2 2114 genome.wustl.edu 37 21 40193586 40193592 + Frame_Shift_Del DEL GACTGGA GACTGGA - novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 GACTGGA GACTGGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_005239.4 +1 validated p.G386fs 1.000:1.000:0.996:0.088:1.000:1.000:0.996 - - - - - - - - - HMMPfam_Ets,HMMSmart_ETS,superfamily_SSF46785 COL18A1 80781 genome.wustl.edu 37 21 46924426 46924434 + In_Frame_Del DEL GGCCCCCCA GGCCCCCCA - rs149296338 byCluster;by1000genomes TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 GGCCCCCCA GGCCCCCCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_130444.2 +1 reviewed p.GPP1360in_frame_del 0.307:0.391:0.336:0.964:0.952:0.917:0.918:0.919:0.837 - - - - - - - - - NULL SCML1 6322 genome.wustl.edu 37 X 17768092 17768092 + Missense_Mutation SNP T T C novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_001037540.1 +1 validated p.Y128H 0.000 464 0% 263 51% 1 100% benign(0) tolerated(0.43) neutral(0.013) NULL PCDH19 57526 genome.wustl.edu 37 X 99551837 99551837 + Missense_Mutation SNP C C T novel TCGA-AP-A05D-01A-11W-A027-09 TCGA-AP-A05D-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8eaa0bd5-48de-4dd3-b100-a50911342362 ae6f84d3-2bf7-403b-a3bc-8c8ce644d1c3 NM_001105243.1 -1 reviewed p.R915Q 1.000 296 0% 285 24.6% 7 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL