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 Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ZNF443 10224 broad.mit.edu 37 19 12542283 12542283 + Missense_Mutation SNP A A G TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr19:12542283A>G ENST00000301547.5 - 4 900 c.703T>C c.(703-705)Tct>Cct p.S235P CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 235 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 CTGTAAAAAGAAAAGGCTTTA 0.378000 5 165 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 3 115 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 3 78 0 0 1 0 0 UPF1 5976 broad.mit.edu 37 19 18960960 18960960 + Missense_Mutation SNP G G A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr19:18960960G>A ENST00000262803.5 + 4 810 c.538G>A c.(538-540)Gtc>Atc p.V180I UPF1_ENST00000600310.1_3'UTR|UPF1_ENST00000599848.1_Missense_Mutation_p.V180I NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 180 Sufficient for interaction with RENT2. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 GGGGGAGACAGTCCTGGAGTG 0.562000 3 126 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2380227 2380227 + Silent SNP A A T TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr20:2380227A>T ENST00000202625.2 + 6 754 c.693A>T c.(691-693)cgA>cgT p.R231R TGM6_ENST00000381423.1_Silent_p.R231R|TGM6_ENST00000477505.1_3'UTR NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 231 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) ACAACGACCGAGGTGTGGTGC 0.632000 33 115 0 0 1 0 0 RP11-337C18.8 0 broad.mit.edu 37 1 146651215 146651215 + RNA SNP G G C TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr1:146651215G>C ENST00000607149.1 + 0 350 AAAGCAGTAGGCAAACACCAC 0.453000 2 11 0 0 1 0 0 HID1 283987 broad.mit.edu 37 17 72951961 72951961 + Missense_Mutation SNP G G C TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr17:72951961G>C ENST00000425042.2 - 13 1639 c.1562C>G c.(1561-1563)tCt>tGt p.S521C NM_030630.2 NP_085133.1 HID1 domain containing CTGGGCGGCAGAGAAGAGGAA 0.572000 37 86 0 0 1 0 0 LRRC43 254050 broad.mit.edu 37 12 122687921 122687921 + Missense_Mutation SNP G G A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr12:122687921G>A ENST00000339777.4 + 12 1931 c.1903G>A c.(1903-1905)Gta>Ata p.V635I LRRC43_ENST00000425921.1_Missense_Mutation_p.V450I NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 635 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) GCCCCTGACCGTAGAGGTGCA 0.592000 4 98 0 0 1 0 0 TEKT4P2 0 broad.mit.edu 37 21 9907198 9907198 + RNA SNP C C T TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr21:9907198C>T ENST00000416067.1 - 0 1594 NR_037872.1|NR_038327.1 GTGCAGAAAGCTAACGCACTG 0.592000 4 14 0 0 1 0 0 KRTAP6-2 337967 broad.mit.edu 37 21 31971024 31971024 + Missense_Mutation SNP C C G TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr21:31971024C>G ENST00000334897.3 - 1 195 c.170G>C c.(169-171)gGc>gCc p.G57A NM_181604.1 NP_853635.1 Q3LI66 KRA62_HUMAN keratin associated protein 6-2 57 intermediate filament endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 GTAGCCAGAGCCGCATCCATA 0.567000 16 43 0 0 1 0 0 SMARCA5 8467 broad.mit.edu 37 4 144467147 144467147 + Missense_Mutation SNP G G C TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr4:144467147G>C ENST00000283131.3 + 19 2929 c.2467G>C c.(2467-2469)Gct>Cct p.A823P NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 823 CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) AATTGATGAAGCTGAATCCCT 0.358000 29 44 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 6 187 0 0 1 0 0 MMP8 4317 broad.mit.edu 37 11 102584153 102584153 + Missense_Mutation SNP C C A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr11:102584153C>A ENST00000236826.3 - 10 1428 c.1330G>T c.(1330-1332)Gca>Tca p.A444S NM_002424.2 NP_002415.1 P22894 MMP8_HUMAN matrix metallopeptidase 8 (neutrophil collagenase) 444 Hemopexin-like 4. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1) 32 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) AGATCAAATGCGTAATATCTT 0.343000 3 97 0.115264 0.118008 1 1 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 3 48 0 0 1 0 0 ZIC2 7546 broad.mit.edu 37 13 100637890 100637890 + Missense_Mutation SNP G G T TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr13:100637890G>T ENST00000376335.3 + 3 1846 c.1553G>T c.(1552-1554)gGg>gTg p.G518V NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 518 brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ggGACAGCCGGGGGTCACAGC 0.771000 9 23 2.17888e-05 2.40235e-05 1 1 0 CCDC15 80071 broad.mit.edu 37 11 124857562 124857562 + Silent SNP A A G TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr11:124857562A>G ENST00000529051.1 + 8 1699 c.1440A>G c.(1438-1440)ttA>ttG p.L480L CCDC15_ENST00000344762.5_Silent_p.L480L Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 480 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) AGAATTTTTTATCTAGAGACC 0.408000 4 124 0 0 1 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935879 151935879 + Missense_Mutation SNP G G T TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chrX:151935879G>T ENST00000393902.3 - 3 855 c.288C>A c.(286-288)agC>agA p.S96R MAGEA3_ENST00000370278.3_Missense_Mutation_p.S96R P43357 MAGA3_HUMAN melanoma antigen family A, 3 96 endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) CAGGGAAGGTGCTTGGCCCCT 0.577000 5 148 0.184627 0.184627 1 1 0 IL33 90865 broad.mit.edu 37 9 6251164 6251164 + Missense_Mutation SNP T T C TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr9:6251164T>C ENST00000381434.3 + 3 255 c.242T>C c.(241-243)gTa>gCa p.V81A IL33_ENST00000456383.2_Missense_Mutation_p.V81A|IL33_ENST00000417746.2_Intron NM_033439.3 NP_254274.1 O95760 IL33_HUMAN interleukin 33 81 positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167) GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105) AGACATCTGGTACTCGCTGCC 0.468000 3 66 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 732477 732477 + Silent SNP G G A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr9:732477G>A ENST00000382303.1 + 10 3757 c.3105G>A c.(3103-3105)gaG>gaA p.E1035E KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000489369.1_3'UTR NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1035 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TTGAAGAAGAGGAGGAGGAGG 0.468000 5 138 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873948 36873948 + Missense_Mutation SNP T T C TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr3:36873948T>C ENST00000429976.2 - 21 7241 c.6994A>G c.(6994-6996)Aga>Gga p.R2332G TRANK1_ENST00000428977.2_Missense_Mutation_p.R1782G|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1782G O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2332 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CTGCTGCCTCTCCCCCTGCCC 0.507000 3 109 0 0 1 0 0 ACOT1 641371 broad.mit.edu 37 14 74004392 74004392 + Silent SNP C C T TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr14:74004392C>T ENST00000311148.4 + 1 575 c.267C>T c.(265-267)ccC>ccT p.P89P HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000334988.2_Intron|ACOT1_ENST00000557556.1_Silent_p.P89P|HEATR4_ENST00000553558.1_Intron NM_001037161.1 NP_001032238.1 acyl-CoA thioesterase 1 endometrium(1)|large_intestine(1)|lung(2) 4 OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033) CCGAGAAACCCTTGGTGCGGC 0.736000 3 12 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 3 63 0 0 1 0 0 PHEX 5251 broad.mit.edu 37 X 22108574 22108574 + Missense_Mutation SNP G G A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chrX:22108574G>A ENST00000379374.4 + 6 1256 c.691G>A c.(691-693)Gtg>Atg p.V231M PHEX_ENST00000537599.1_Missense_Mutation_p.V231M|PHEX_ENST00000535894.1_Missense_Mutation_p.V134M NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked 231 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 CTCCCTGGCCGTGAGGGAAGA 0.428000 3 107 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2347809 2347809 + Missense_Mutation SNP C C G rs149496917 byFrequency TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr16:2347809C>G ENST00000301732.5 - 16 2710 c.2010G>C c.(2008-2010)agG>agC p.R670S ABCA3_ENST00000382381.3_Missense_Mutation_p.R612S NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 670 ABC transporter 1. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) AGAGCTTGCGCCTCATGCCCC 0.632000 3 141 0 0 1 0 0 FAM129B 64855 broad.mit.edu 37 9 130270798 130270798 + Missense_Mutation SNP T T C TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr9:130270798T>C ENST00000373312.3 - 11 1550 c.1337A>G c.(1336-1338)tAt>tGt p.Y446C FAM129B_ENST00000373314.3_Missense_Mutation_p.Y433C|FAM129B_ENST00000468379.1_Intron NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 446 protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 CTCGAACGTATACACGGCATT 0.637000 13 222 0 0 1 0 0 MANEA 79694 broad.mit.edu 37 6 96034277 96034277 + Splice_Site SNP G G A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr6:96034277G>A ENST00000358812.4 + 2 96 c.e2-1 MANEA_ENST00000369293.1_Splice_Site NM_024641.3 NP_078917.2 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) ATAAATTGCAGCAAAACACTT 0.274000 3 73 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270018 114270018 + Silent SNP G G A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr7:114270018G>A ENST00000393500.3 + 11 1150 c.330G>A c.(328-330)caG>caA p.Q110Q FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q O15409 FOXP2_HUMAN forkhead box P2 185 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q210Q(2) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcaacagcagcagcagc 0.502000 4 56 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 4 61 0 0 1 0 0 C4BPA 722 broad.mit.edu 37 1 207317265 207317265 + Missense_Mutation SNP G G A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr1:207317265G>A ENST00000367070.3 + 11 1741 c.1547G>A c.(1546-1548)gGt>gAt p.G516D NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 516 Sushi 8. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TCTGGCTATGGTGTGGTTGGT 0.473000 19 88 0 0 1 0 0 TICRR 90381 broad.mit.edu 37 15 90129030 90129030 + Missense_Mutation SNP G G A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr15:90129030G>A ENST00000268138.7 + 4 1373 c.1268G>A c.(1267-1269)cGc>cAc p.R423H RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.R422H TOPBP1-interacting checkpoint and replication regulator ACTGTGTGCCGCACCAAGGAG 0.542000 3 105 0 0 1 0 0 TOP3B 8940 broad.mit.edu 37 22 22318659 22318659 + Silent SNP C C A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr22:22318659C>A ENST00000398793.2 - 10 1406 c.972G>T c.(970-972)acG>acT p.T324T TOP3B_ENST00000357179.5_Silent_p.T324T|TOP3B_ENST00000413067.2_Silent_p.T53T NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 324 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) GCCGCTCAGCCGTCTGCATGG 0.637000 3 110 0.00909568 0.00953937 1 1 0 MAP1A 4130 broad.mit.edu 37 15 43816894 43816894 + Missense_Mutation SNP G G A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr15:43816894G>A ENST00000382031.1 + 5 3968 c.3937G>A c.(3937-3939)Gca>Aca p.A1313T MAP1A_ENST00000300231.5_Missense_Mutation_p.A1075T|MAP1A_ENST00000399453.1_Missense_Mutation_p.A1075T P78559 MAP1A_HUMAN microtubule-associated protein 1A 1075 KYLPGAITSPD -> EVLTWGDHQALN (in Ref. 4; AAD00355). cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GGCCCAGGAAGCACCTGTCAA 0.532000 3 120 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150932824 150932824 + Missense_Mutation SNP G G A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr5:150932824G>A ENST00000261800.5 - 5 4082 c.4070C>T c.(4069-4071)aCg>aTg p.T1357M NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1357 Cadherin 12. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCCATGACCGTAAAGCTGTA 0.587000 3 118 0 0 1 0 0 ILDR2 387597 broad.mit.edu 37 1 166889963 166889963 + Frame_Shift_Del DEL T T - TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr1:166889963delT ENST00000271417.3 - 9 1920 c.1865delA c.(1864-1866)agfs p.K622fs ILDR2_ENST00000525740.1_Frame_Shift_Del_p.K495fs|ILDR2_ENST00000526687.1_Frame_Shift_Del_p.K514fs|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000528703.1_Frame_Shift_Del_p.K563fs|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Frame_Shift_Del_p.K603fs NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 622 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 GGCGGGCTCCTTTTTCCTCTT 0.682 2 4 --- --- --- --- SFTPC 6440 broad.mit.edu 37 8 22020159 22020161 + In_Frame_Del DEL GTG GTG - TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr8:22020159_22020161delGTG ENST00000521315.1 + 2 147_149 c.115_117delGTG c.(115-117)del p.V44del SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del P11686 PSPC_HUMAN surfactant protein C 44 respiratory gaseous exchange extracellular space autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CCTTCTTATCGTGGTGGTGGTGG 0.601 8 201 --- --- --- --- RP11-946L20.4 0 broad.mit.edu 37 8 112239271 112239271 + RNA DEL T T - TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr8:112239271delT ENST00000522778.1 - 0 122 CTAATGAATATTGTCCGTAAC 0.398 2 4 --- --- --- --- RP11-324L3.1 0 broad.mit.edu 37 10 102941297 102941297 + RNA DEL A A - TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr10:102941297delA ENST00000434189.2 + 0 489 TTATGTAAGCAAAATGTGTGG 0.323 2 4 --- --- --- --- R3HDM2 22864 broad.mit.edu 37 12 57674205 57674207 + In_Frame_Del DEL TGC TGC - TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr12:57674205_57674207delTGC ENST00000402412.1 - 14 1668_1670 c.1278_1280delGCA c.(1276-1281)caa>ca p.QQ426del R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 412 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 AGCAGGAAGTtgctgctgctgct 0.576 7 158 --- --- --- --- RP11-160E2.17 0 broad.mit.edu 37 17 18988562 18988562 + RNA DEL T T - TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr17:18988562delT ENST00000442355.2 + 0 272 CTGATGTGTGTTTTTTTTTTT 0.279 2 4 --- --- --- --- CRYBB2P1 0 broad.mit.edu 37 22 25855682 25855683 + RNA INS - - GTGT rs72063487 by1000genomes TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr22:25855682_25855683insGTGT ENST00000354451.2 + 0 366 CCTGGCAGCTGgtgtgtgtgtg 0.530 3 3 --- --- --- --- ARMCX3 51566 broad.mit.edu 37 X 100880152 100880154 + In_Frame_Del DEL TGA TGA - TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chrX:100880152_100880154delTGA ENST00000341189.4 + 5 1049_1051 c.183_185delTGA c.(181-186)tct>tc p.SD61del ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del|ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 61 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 ATGACTGGTCTGATGATGATGAT 0.517 7 371 --- --- --- ---