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 TNFRSF14 8764 genome.wustl.edu 37 1 2491274 2491274 + Missense_Mutation SNP G G T novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_003820.2 +1 reviewed p.R106L 0.006 14 0.000 8 0.625 - - benign(0) tolerated(0.76) neutral(0.001) HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,superfamily_TNF receptor-like PLA2G2E 30814 genome.wustl.edu 37 1 20248866 20248866 + Missense_Mutation SNP G G T novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_014589.1 -1 provisional p.R71S 0.001 25 0% 15 40% - - benign(0.373) deleterious(0.04) neutral(0.468) HMMPfam_Phospholip_A2_1,HMMSmart_PA2c,superfamily_PhospholipaseA2 MACF1 23499 genome.wustl.edu 37 1 39800724 39800724 + Missense_Mutation SNP G G A novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_033044.2 +1 reviewed p.A1262T 0.013 56 0% 51 37.3% - - benign(0.235) - - superfamily_SSF75399 MFSD2A 84879 genome.wustl.edu 37 1 40431006 40431006 + Missense_Mutation SNP G G C novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 ENST00000412699 +1 known p.R87P 1.000 65 0% 80 45% - - - - - NULL PDE4B 5142 genome.wustl.edu 37 1 66798171 66798171 + Missense_Mutation SNP G G A novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_001037339.1 +1 reviewed p.M33I 1.000 74 0% 70 41.4% - - benign(0) tolerated(0.43) neutral(0.013) NULL HRNR 388697 genome.wustl.edu 37 1 152193325 152193325 + Silent SNP G G A novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_001009931.1 -1 validated p.H260 0.000 161 0% 155 45.8% - - - - - NULL ATP1A2 477 genome.wustl.edu 37 1 160105086 160105086 + Splice_Site SNP G G A novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_000702.3 +1 reviewed e15+1 1.000 40 0% 53 24.5% - - - - - - PIGR 5284 genome.wustl.edu 37 1 207104882 207104882 + Missense_Mutation SNP T T C novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_002644.3 -1 reviewed p.E720G 0.004 146 0% 142 30.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GEN1 348654 genome.wustl.edu 37 2 17962727 17962727 + Missense_Mutation SNP G G T novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_001130009.1 +1 validated p.V750F 0.000 39 0% 46 26.1% - - benign(0.396) deleterious(0.01) deleterious(0.532) NULL HEATR5B 54497 genome.wustl.edu 37 2 37297524 37297524 + Missense_Mutation SNP C C T novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_019024.1 -1 validated p.R259H 1.000 46 0% 89 56.2% - - probably_damaging(0.959) tolerated(0.23) neutral(0.444) superfamily_ARM repeat USP34 9736 genome.wustl.edu 37 2 61417742 61417742 + Missense_Mutation SNP C C T novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_014709.3 -1 validated p.A3214T 1.000 71 0% 139 55.4% - - probably_damaging(0.963) tolerated(0.76) neutral(0.407) NULL DPP10 57628 genome.wustl.edu 37 2 116548694 116548694 + Silent SNP A A G novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_020868.3 +1 validated p.E523 0.995 64 0% 90 54.4% - - - - - superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain PLCL1 5334 genome.wustl.edu 37 2 199011631 199011631 + Missense_Mutation SNP G G A novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_006226.3 +1 validated p.R980H 1.000 66 0% 43 51.2% - - unknown(0) deleterious(0.01) - NULL GIGYF2 26058 genome.wustl.edu 37 2 233712227 233712229 + In_Frame_Del DEL ACA ACA - rs58340018 TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_001103147.1 +1 reviewed p.Q1235in_frame_del 0.057:0.094:0.124 - - - - - - - - - NULL THAP4 51078 genome.wustl.edu 37 2 242572814 242572814 + Missense_Mutation SNP C C T novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_015963.5 -1 validated p.R253Q 0.135 29 0% 57 14% - - possibly_damaging(0.79) deleterious(0.04) deleterious(0.645) NULL SEMA3G 56920 genome.wustl.edu 37 3 52475320 52475320 + Missense_Mutation SNP G G A novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_020163.1 -1 provisional p.S258L 0.476 15 0% 26 69.2% - - benign(0) tolerated(0.4) neutral(0.016) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema GNL3 26354 genome.wustl.edu 37 3 52721394 52721395 + Frame_Shift_Ins INS - - AGAGG novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_014366.4 +1 validated p.L71fs 1.000:0.997 - - - - - - - - - HMMPfam_GN3L_Grn1 CCDC48 79825 genome.wustl.edu 37 3 128757681 128757681 + Missense_Mutation SNP C C T novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_024768.2 +1 validated p.S96L 1.000 35 0% 39 30.8% - - possibly_damaging(0.832) deleterious(0) deleterious(0.762) NULL LRRIQ4 344657 genome.wustl.edu 37 3 169546669 169546669 + Missense_Mutation SNP A A C novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_001080460.1 +1 provisional p.Q381H 1.000 53 0% 67 62.7% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) superfamily_SSF52058 TMPRSS11E 28983 genome.wustl.edu 37 4 69342017 69342017 + Missense_Mutation SNP C C T novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_014058.3 +1 validated p.L190F 0.020 67 0% 82 29.3% - - possibly_damaging(0.678) tolerated(0.08) deleterious(0.541) superfamily_Pept_Ser_Cys SEPT11 55752 genome.wustl.edu 37 4 77936125 77936125 + Silent SNP T T C novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_018243.2 +1 validated p.F214 1.000 89 0% 77 50.6% - - - - - HMMPfam_Septin,superfamily_SSF52540 SMAD1 4086 genome.wustl.edu 37 4 146463741 146463741 + Silent SNP G G A novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_001003688.1 +1 reviewed p.T222 0.062 43 0% 32 43.8% - - - - - superfamily_SMAD/FHA domain FBXW7 55294 genome.wustl.edu 37 4 153249510 153249510 + Missense_Mutation SNP C C A novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_033632.2 -1 reviewed p.G423V 1.000 102 0% 124 44.4% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 MAP9 79884 genome.wustl.edu 37 4 156296146 156296146 + Missense_Mutation SNP G G A rs188784938 by1000genomes TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_001039580.1 -1 validated p.R35C 1.000 94 0% 97 43.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRIM61 391712 genome.wustl.edu 37 4 165891119 165891119 + Silent SNP T T C novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_001012414.2 -1 validated p.A12 0.002 47 0% 39 35.9% - - - - - superfamily_SSF57850 PDZD2 23037 genome.wustl.edu 37 5 32091076 32091076 + Missense_Mutation SNP G G A novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_178140.2 +1 reviewed p.V2508M 0.000 19 0% 14 50% - - benign(0.011) deleterious(0) neutral(0.445) NULL MCC 4163 genome.wustl.edu 37 5 112364713 112364713 + Missense_Mutation SNP C C A novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_001085377.1 -1 reviewed p.A933S 1.000 65 0% 63 57.1% - - benign(0.096) tolerated(0.55) neutral(0.014) HMMPfam_MCC-bdg_PDZ KCNN2 3781 genome.wustl.edu 37 5 113699621 113699621 + Missense_Mutation SNP G G C novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_021614.2 +1 reviewed p.A169P 1.000 110 0% 115 47.8% - - probably_damaging(0.975) tolerated(0.11) deleterious(0.689) HMMPfam_SK_channel PCDH12 51294 genome.wustl.edu 37 5 141336244 141336244 + Nonsense_Mutation SNP G G T novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_016580.2 -1 reviewed p.C391* 0.976 56 0% 50 48% - - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDH12 51294 genome.wustl.edu 37 5 141336245 141336245 + Missense_Mutation SNP C C T novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_016580.2 -1 reviewed p.C391Y 0.998 56 0% 55 49.1% - - probably_damaging(0.959) deleterious(0) deleterious(0.847) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin TDP2 51567 genome.wustl.edu 37 6 24654665 24654665 + Missense_Mutation SNP A A C novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_016614.2 -1 reviewed p.M204R 1.000 200 0% 270 31.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos DST 667 genome.wustl.edu 37 6 56716267 56716267 + Nonsense_Mutation SNP C C A novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 ENST00000370754 -1 known p.E185* 1.000 51 0% 58 53.4% - - - - - superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,superfamily_Calponin-homology domain CH-domain KIAA1429 25962 genome.wustl.edu 37 8 95511668 95511668 + Silent SNP C C T novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_015496.3 -1 validated p.K1388 1.000 93 0% 55 96.4% - - - - - NULL CELP 1057 genome.wustl.edu 37 9 135962459 135962491 + Splice_Site DEL TGCCCCTGTGCCCCTCACAAGTGACTCTGAGGC TGCCCCTGTGCCCCTCACAAGTGACTCTGAGGC - novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 TGCCCCTGTGCCCCTCACAAGTGACTCTGAGGC TGCCCCTGTGCCCCTCACAAGTGACTCTGAGGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 ENST00000421286 +1 known NULL 0.000:0.003:0.011:0.006:0.007:0.000:0.000:0.000:0.000:0.009:0.050:0.034:0.026:0.020:0.015:0.001:0.000:0.000:0.000:0.000:0.000:0.000 - - - - - - - - - - KIAA1217 56243 genome.wustl.edu 37 10 24802317 24802317 + Nonsense_Mutation SNP A A T novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_019590.3 +1 validated p.R711* 0.996 60 0% 50 40% - - - - - NULL OR5P2 120065 genome.wustl.edu 37 11 7817933 7817933 + Missense_Mutation SNP G G C novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_153444.1 -1 provisional p.S186C 0.592 47 0% 27 81.5% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_7tm_1,superfamily_SSF81321 FIBP 9158 genome.wustl.edu 37 11 65655355 65655355 + Missense_Mutation SNP G G T novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 ENST00000442885 -1 known p.P112T 0.997 19 0% 12 41.7% - - - - - NULL LRFN4 78999 genome.wustl.edu 37 11 66627254 66627254 + Missense_Mutation SNP C C G novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_024036.4 +1 validated p.T499R 0.998 18 0% 11 54.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL VSIG10 54621 genome.wustl.edu 37 12 118517340 118517340 + Missense_Mutation SNP G G A novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_019086.5 -1 validated p.R246C 1.000 66 0% 60 40% - - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) superfamily_Immunoglobulin NBEA 26960 genome.wustl.edu 37 13 35806738 35806738 + Missense_Mutation SNP C C A novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_015678.4 +1 validated p.Q1920K 1.000 74 0% 54 42.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM repeat BLM 641 genome.wustl.edu 37 15 91347397 91347397 + Missense_Mutation SNP G G T novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_000057.2 +1 reviewed p.V1187L 1.000 50 0% 37 29.7% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_RQC TELO2 9894 genome.wustl.edu 37 16 1544376 1544376 + Silent SNP C C T novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_016111.3 +1 reviewed p.L32 0.296 18 0% 33 51.5% - - - - - NULL SRR 63826 genome.wustl.edu 37 17 2227116 2227117 + Frame_Shift_Del DEL TT TT - novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_021947.1 +1 provisional p.W325fs 0.341:0.956 - - - - - - - - - NULL AOC3 8639 genome.wustl.edu 37 17 41004502 41004502 + Missense_Mutation SNP C C T novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_003734.2 +1 reviewed p.T381M 0.000 26 0% 20 90% - - benign(0.002) tolerated(0.13) neutral(0.253) HMMPfam_Cu_amine_oxid,superfamily_CuNH_oxidase CACNA1G 8913 genome.wustl.edu 37 17 48668879 48668879 + Missense_Mutation SNP G G A novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_018896.3 +1 validated p.R846H 1.000 23 0% 34 50% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels MUC16 94025 genome.wustl.edu 37 19 9049153 9049153 + Silent SNP C C T novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_024690.2 -1 validated p.T10826 0.000 79 0% 43 97.7% - - - - - NULL WDR87 83889 genome.wustl.edu 37 19 38385235 38385235 + Missense_Mutation SNP G G A novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_031951.3 -1 provisional p.R331W 0.060 42 0% 54 48.1% - - probably_damaging(1) - - superfamily_WD40 repeat-like,PatternScan_C_TYPE_LECTIN_1 DMRTC2 63946 genome.wustl.edu 37 19 42354538 42354538 + Nonsense_Mutation SNP T T A novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 ENST00000427618 +1 known p.L305* 0.000 45 0% 54 53.7% - - - - - NULL KLK6 5653 genome.wustl.edu 37 19 51471319 51471319 + Splice_Site SNP A A G novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_001012964.1 -1 reviewed e1+2 0.931 56 0% 67 47.8% - - - - - - ZNF677 342926 genome.wustl.edu 37 19 53747109 53747109 + Silent SNP T T C novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_182609.2 -1 provisional p.Q19 0.999 65 0% 103 19.4% - - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box SCML2 10389 genome.wustl.edu 37 X 18264814 18264814 + Missense_Mutation SNP C C A novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_006089.2 -1 validated p.V569F 0.000 61 0% 58 58.6% - - possibly_damaging(0.903) tolerated(0.09) deleterious(0.654) NULL MAGEB10 139422 genome.wustl.edu 37 X 27840074 27840074 + Silent SNP T T C novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_182506.3 +1 reviewed p.C217 0.000 53 0% 33 51.5% - - - - - HMMPfam_MAGE IL1RAPL1 11141 genome.wustl.edu 37 X 29414419 29414419 + Missense_Mutation SNP G G A novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_014271.3 +1 reviewed p.G136D 0.988 77 0% 50 46% - - benign(0.042) tolerated(0.27) neutral(0.036) HMMSmart_SM00409,superfamily_Immunoglobulin ASB12 142689 genome.wustl.edu 37 X 63445396 63445396 + Missense_Mutation SNP G G T novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_130388.2 -1 reviewed p.D36E 0.031 48 0% 61 54.1% - - benign(0.016) tolerated(0.42) neutral(0.015) superfamily_ANK CXorf57 55086 genome.wustl.edu 37 X 105921450 105921450 + Missense_Mutation SNP T T A novel TCGA-AX-A1C7-01A-11D-A135-09 TCGA-AX-A1C7-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 653903a8-1ac0-4525-85b5-b2e8e03cbe8c 3f869b7b-79a5-401a-8927-ec7501f44dc9 NM_018015.5 +1 validated p.Y844N 0.679 71 0% 79 39.2% - - possibly_damaging(0.677) tolerated(0.18) neutral(0.297) NULL