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 LILRA4 23547 broad.mit.edu 37 19 54849692 54849692 + Silent SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr19:54849692G>A ENST00000291759.4 - 3 386 c.330C>T c.(328-330)agC>agT p.S110S NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 110 Ig-like C2-type 1. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CCAGGGGGTCGCTGGGCTCTG 0.607000 38 92 0 0 1 0 0 PRSS36 146547 broad.mit.edu 37 16 31152920 31152920 + Missense_Mutation SNP G G A rs145749002 by1000genomes TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr16:31152920G>A ENST00000268281.4 - 12 1829 c.1771C>T c.(1771-1773)Cgg>Tgg p.R591W PRSS36_ENST00000569305.1_Missense_Mutation_p.R586W|PRSS36_ENST00000418068.2_Missense_Mutation_p.R591W NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 591 Peptidase S1 3. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 GCCTCCAGCCGCAGGCCACAG 0.682000 3 58 0 0 1 0 0 STAMBP 10617 broad.mit.edu 37 2 74058084 74058084 + Missense_Mutation SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr2:74058084G>A ENST00000394070.2 + 2 604 c.101G>A c.(100-102)cGt>cAt p.R34H STAMBP_ENST00000394073.1_Missense_Mutation_p.R34H|STAMBP_ENST00000409707.1_Missense_Mutation_p.R34H|STAMBP_ENST00000536064.1_Missense_Mutation_p.R34H|STAMBP_ENST00000339566.3_Missense_Mutation_p.R34H NM_213622.2 NP_998787.1 O95630 STABP_HUMAN STAM binding protein 34 Interaction with CHMP3. JAK-STAT cascade|positive regulation of cell proliferation early endosome|membrane|nucleus metal ion binding|metallopeptidase activity|protein binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 18 ATTCCACCCCGTCGGTACTTC 0.517000 85 80 0 0 1 0 0 DDX4 54514 broad.mit.edu 37 5 55088554 55088554 + Nonsense_Mutation SNP T T A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr5:55088554T>A ENST00000505374.1 + 17 1480 c.1388T>A c.(1387-1389)tTa>tAa p.L463* DDX4_ENST00000354991.5_Nonsense_Mutation_p.L429*|DDX4_ENST00000511853.1_Nonsense_Mutation_p.L314*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.L429*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.L443* NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 463 Helicase ATP-binding. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) ATGAAGAAGTTAATTTCTTGC 0.363000 21 215 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86123866 86123866 + Missense_Mutation SNP T T G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr15:86123866T>G ENST00000394518.2 + 7 2662 c.2567T>G c.(2566-2568)cTt>cGt p.L856R AKAP13_ENST00000361243.2_Missense_Mutation_p.L856R NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 856 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity p.E855_G859>G(1) NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 GCTGCAGAGCTTCAGCACGGG 0.552000 49 125 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 52 0 0 1 0 0 NFATC4 4776 broad.mit.edu 37 14 24839702 24839702 + Silent SNP A A G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr14:24839702A>G ENST00000413692.2 + 3 1431 c.1287A>G c.(1285-1287)ggA>ggG p.G429G NFATC4_ENST00000556279.1_Silent_p.G398G|NFATC4_ENST00000422617.3_Silent_p.G354G|NFATC4_ENST00000554344.1_Silent_p.G296G|NFATC4_ENST00000250373.4_Silent_p.G366G|NFATC4_ENST00000554050.1_Silent_p.G366G|NFATC4_ENST00000554966.1_Silent_p.G379G|NFATC4_ENST00000553469.1_Silent_p.G398G|NFATC4_ENST00000554591.1_Silent_p.G429G|NFATC4_ENST00000539237.2_Silent_p.G398G|NFATC4_ENST00000555590.1_Silent_p.G379G|NFATC4_ENST00000556169.1_Silent_p.G354G|NFATC4_ENST00000553708.1_Silent_p.G366G|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554661.1_Silent_p.G296G|NFATC4_ENST00000555453.1_Silent_p.G354G|NFATC4_ENST00000557451.1_Silent_p.G296G|NFATC4_ENST00000553879.1_Silent_p.G296G|NFATC4_ENST00000424781.2_Silent_p.G379G NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 366 RHD. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) CTCCTCCAGGAGGTTCCCGGA 0.637000 26 49 0 0 1 0 0 LAMP5 24141 broad.mit.edu 37 20 9496748 9496748 + Silent SNP C C G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr20:9496748C>G ENST00000246070.2 + 3 831 c.339C>G c.(337-339)cgC>cgG p.R113R LAMP5_ENST00000427562.2_Intron NM_012261.3 NP_036393.1 Q9UJQ1 CT103_HUMAN lysosomal-associated membrane protein family, member 5 113 integral to membrane GGGTGGATCGCGCATATGCAC 0.617000 13 46 0 0 1 0 0 BIRC2 329 broad.mit.edu 37 11 102221100 102221100 + Nonsense_Mutation SNP C C A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr11:102221100C>A ENST00000227758.2 + 2 1914 c.515C>A c.(514-516)tCg>tAg p.S172* BIRC2_ENST00000530675.1_Nonsense_Mutation_p.S123*|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Nonsense_Mutation_p.S151* NM_001166.4|NM_001256163.1 NP_001157.1|NP_001243092.1 Q13490 BIRC2_HUMAN baculoviral IAP repeat containing 2 172 cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination CD40 receptor complex|cytosol|internal side of plasma membrane protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0144) ATCTCTTCATCGAGGACTAAC 0.418000 4 134 1 1 1 1 0 PTPRB 5787 broad.mit.edu 37 12 70953095 70953095 + Missense_Mutation SNP G G T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr12:70953095G>T ENST00000551525.1 - 18 4763 c.4739C>A c.(4738-4740)tCt>tAt p.S1580Y PTPRB_ENST00000334414.6_Intron|PTPRB_ENST00000538708.1_Intron|PTPRB_ENST00000550358.1_Intron|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000261266.5_Intron|PTPRB_ENST00000451516.2_Intron P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CTCCATTTGAGAAATAAGAGT 0.368000 49 134 3.50607e-19 3.81429e-19 1 1 0 GEM 2669 broad.mit.edu 37 8 95262715 95262715 + Missense_Mutation SNP C C A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr8:95262715C>A ENST00000297596.2 - 5 978 c.714G>T c.(712-714)caG>caT p.Q238H GEM_ENST00000396194.2_Missense_Mutation_p.Q238H NM_005261.3 NP_005252.1 P55040 GEM_HUMAN GTP binding protein overexpressed in skeletal muscle 238 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) GAAGGCGCACCTGTCGCACAA 0.582000 67 71 1.30681e-28 1.47016e-28 1 1 0 TPK1 27010 broad.mit.edu 37 7 144288534 144288534 + Silent SNP C C T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr7:144288534C>T ENST00000549981.1 - 9 855 c.132G>A c.(130-132)ctG>ctA p.L44L TPK1_ENST00000378099.3_Intron|TPK1_ENST00000360057.3_Silent_p.L161L|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Intron Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 161 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) GCAGGTAGATCAGCGATTCCT 0.423000 118 144 0 0 1 0 0 ARRDC2 27106 broad.mit.edu 37 19 18120412 18120412 + Silent SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr19:18120412G>A ENST00000222250.4 + 4 644 c.501G>A c.(499-501)gcG>gcA p.A167A ARRDC2_ENST00000595712.1_3'UTR|ARRDC2_ENST00000379656.2_Silent_p.A162A NM_015683.1 NP_056498.1 Q8TBH0 ARRD2_HUMAN arrestin domain containing 2 167 endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1) 12 CACCTCAAGCGGGGGCTCGGG 0.587000 47 164 0 0 1 0 0 LGALS12 85329 broad.mit.edu 37 11 63278567 63278567 + Missense_Mutation SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr11:63278567G>A ENST00000415491.2 + 5 1045 c.431G>A c.(430-432)aGc>aAc p.S144N LGALS12_ENST00000425950.2_Intron|LGALS12_ENST00000394618.3_Missense_Mutation_p.S205N|LGALS12_ENST00000255684.5_Intron|LGALS12_ENST00000340246.5_Missense_Mutation_p.S206N NM_001142537.1 NP_001136009.1 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 205 Galectin 1. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 CTGCTGATGAGCCCCAGGCTG 0.552000 7 79 0 0 1 0 0 SLC9A7 84679 broad.mit.edu 37 X 46466517 46466517 + Missense_Mutation SNP G G A rs146808441 TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chrX:46466517G>A ENST00000328306.4 - 17 2073 c.2048C>T c.(2047-2049)aCg>aTg p.T683M SLC9A7_ENST00000464933.1_5'UTR NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 683 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 CTCCAGACTCGTGGAGGCGGT 0.602000 38 2 0 0 1 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90578514 90578514 + RNA SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr6:90578514G>A ENST00000551025.1 + 0 6942 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) CTCACAAAAAGAGAAGAAACA 0.343000 7 10 0 0 1 0 0 NUTM2B-AS1 101060691 broad.mit.edu 37 10 81443781 81443781 + RNA SNP A A T rs143569743 by1000genomes TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr10:81443781A>T ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA GACCACAAAGACGAGGAGGAG 0.622000 5 26 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274379 39274379 + Silent SNP G G A rs411996 by1000genomes TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr17:39274379G>A ENST00000391413.2 - 1 227 c.189C>T c.(187-189)acC>acT p.T63T NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 63 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GGCGGCAGCAGGTGGGCTGGC 0.657000 4 96 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44178123 44178123 + Missense_Mutation SNP G G T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr22:44178123G>T ENST00000262726.7 - 3 329 c.76C>A c.(76-78)Cat>Aat p.H26N EFCAB6_ENST00000356087.4_5'UTR|EFCAB6_ENST00000358439.4_5'UTR|EFCAB6_ENST00000396231.2_Intron NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 26 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) GGTGAAGAATGGGGTCTTGAA 0.373000 11 198 2.23348e-06 2.40342e-06 1 1 0 CSNK1G1 53944 broad.mit.edu 37 15 64499781 64499781 + Missense_Mutation SNP C C G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr15:64499781C>G ENST00000303052.7 - 7 1115 c.692G>C c.(691-693)aGa>aCa p.R231T CSNK1G1_ENST00000303032.6_Missense_Mutation_p.R231T|CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.R213T|CSNK1G1_ENST00000607537.1_Missense_Mutation_p.R231T NM_022048.3 NP_071331.2 Q9HCP0 KC1G1_HUMAN casein kinase 1, gamma 1 231 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1) 13 CAAATCATCTCTCCGGCTTTG 0.453000 16 52 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85639647 85639647 + Missense_Mutation SNP T T C TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr4:85639647T>C ENST00000322366.6 - 47 8038 c.7631A>G c.(7630-7632)cAt>cGt p.H2544R WDFY3_ENST00000295888.4_Missense_Mutation_p.H2561R Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2561 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CACATAAAAATGCTCTTTACC 0.408000 72 54 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43933112 43933112 + Silent SNP C C T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr20:43933112C>T ENST00000537548.1 - 4 643 c.399G>A c.(397-399)ccG>ccA p.P133P MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Silent_p.P133P|MATN4_ENST00000372754.1_Silent_p.P133P|MATN4_ENST00000353917.5_Silent_p.P133P|MATN4_ENST00000342716.4_Silent_p.P133P|MATN4_ENST00000360607.5_Silent_p.P133P|MATN4_ENST00000372753.1_Intron O95460 MATN4_HUMAN matrilin 4 133 VWFA 1. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) GCTCCTCTGGCGGTCGCGCGC 0.716000 9 15 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142451278 142451278 + RNA SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr8:142451278G>A ENST00000430863.1 - 0 3123 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 TTCCTCTCACGCTCCTGTGGG 0.637000 34 28 0 0 1 0 0 DPY19L1 23333 broad.mit.edu 37 7 34997678 34997678 + Missense_Mutation SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr7:34997678G>A ENST00000310974.4 - 11 1022 c.878C>T c.(877-879)tCt>tTt p.S293F DPY19L1_ENST00000462134.2_Intron NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) 293 integral to membrane endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 AAGTGCAAGAGAAATCTGGAA 0.279000 20 16 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24537572 24537572 + Missense_Mutation SNP A A T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr5:24537572A>T ENST00000264463.4 - 3 950 c.443T>A c.(442-444)aTc>aAc p.I148N NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 148 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) ATGAATTTTGATCACAAACTC 0.418000 HNSCC(23;0.051) 61 174 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137650106 137650106 + Silent SNP C C T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr9:137650106C>T ENST00000371817.3 + 18 2313 c.1899C>T c.(1897-1899)gaC>gaT p.D633D NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 633 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGGGTTTCGACGGCCTGGCTG 0.627000 67 10 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110839549 110839549 + Missense_Mutation SNP G G T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr13:110839549G>T ENST00000375820.4 - 25 1785 c.1664C>A c.(1663-1665)aCa>aAa p.T555K NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 555 Triple-helical region. T -> P (in dbSNP:rs536174). angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding p.P555Q(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CGCTCTCCCTGTCATGCCGGG 0.572000 8 146 5.18039e-06 5.51461e-06 1 1 0 ACAP2 23527 broad.mit.edu 37 3 195102638 195102638 + Silent SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr3:195102638G>A ENST00000326793.6 - 3 455 c.225C>T c.(223-225)gtC>gtT p.V75V NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 75 BAR. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 TAACCTCAACGACAGCATCAT 0.323000 7 63 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166892972 166892972 + Silent SNP A A G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr2:166892972A>G ENST00000423058.2 - 16 3032 c.3015T>C c.(3013-3015)gaT>gaC p.D1005D AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.D977D|SCN1A_ENST00000375405.3_Silent_p.D994D|SCN1A_ENST00000303395.4_Silent_p.D1005D|AC010127.3_ENST00000595268.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1005 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TTTCATTATCATCATCAGTGG 0.343000 21 28 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178413398 178413398 + Silent SNP C C G rs140658210 TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr5:178413398C>G ENST00000231188.5 - 8 2035 c.1857G>C c.(1855-1857)tcG>tcC p.S619S GRM6_ENST00000517717.1_Silent_p.S619S|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 619 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GCTCTCGGCCCGAGGCCCGGA 0.682000 8 55 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16021583 16021583 + Missense_Mutation SNP A A T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr8:16021583A>T ENST00000350896.3 - 5 1005 c.808T>A c.(808-810)Tta>Ata p.L270I MSR1_ENST00000262101.5_Missense_Mutation_p.L270I|MSR1_ENST00000381998.4_Missense_Mutation_p.L270I|MSR1_ENST00000445506.2_Missense_Mutation_p.L288I|MSR1_ENST00000536385.1_Missense_Mutation_p.L44I|MSR1_ENST00000355282.2_Missense_Mutation_p.L270I NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 270 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CCTTGAATTAAAGTGATATTT 0.303000 33 62 0 0 1 0 0 PDCD11 22984 broad.mit.edu 37 10 105179417 105179417 + Silent SNP C C A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr10:105179417C>A ENST00000369797.3 + 16 2323 c.2229C>A c.(2227-2229)ggC>ggA p.G743G NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 743 S1 motif 8. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) AGGACTATGGCGTGTTCATCC 0.493000 3 89 1 1 1 1 0 TCP11L2 255394 broad.mit.edu 37 12 106717367 106717367 + Missense_Mutation SNP C C T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr12:106717367C>T ENST00000546625.1 + 6 874 c.715C>T c.(715-717)Cgc>Tgc p.R239C TCP11L2_ENST00000299045.3_Missense_Mutation_p.R239C|TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000547153.1_Missense_Mutation_p.R239C Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 239 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 GCACCTTCAACGCCAGTTGGT 0.338000 6 166 0 0 1 0 0 RANBP9 10048 broad.mit.edu 37 6 13711709 13711709 + Missense_Mutation SNP G G T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr6:13711709G>T ENST00000011619.3 - 1 87 c.29C>A c.(28-30)cCg>cAg p.P10Q NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 10 Poly-Pro. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) ctgctgctgcggcggcggcgg 0.761000 4 23 0.150653 0.156997 1 1 0 BCL11A 53335 broad.mit.edu 37 2 60688844 60688844 + Silent SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr2:60688844G>A ENST00000335712.6 - 4 1430 c.1203C>T c.(1201-1203)ggC>ggT p.G401G BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Silent_p.G401G|BCL11A_ENST00000538214.1_Silent_p.G367G|BCL11A_ENST00000358510.4_Silent_p.G367G|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Silent_p.G70G NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 401 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) AGGGCTTCTCGCCCGTGTGGC 0.607000 T IGH@ B-CLL 144 135 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79060511 79060511 + Missense_Mutation SNP T T C TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr15:79060511T>C ENST00000388820.4 - 17 2819 c.2609A>G c.(2608-2610)cAa>cGa p.Q870R ADAMTS7_ENST00000566303.1_5'UTR NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 870 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CTTCCTCTGTTGGTCATCAGG 0.692000 3 36 0 0 1 0 0 SLC7A2 6542 broad.mit.edu 37 8 17406213 17406213 + Missense_Mutation SNP T T C TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr8:17406213T>C ENST00000470360.1 + 6 796 c.679T>C c.(679-681)Tct>Cct p.S227P SLC7A2_ENST00000398090.3_Missense_Mutation_p.S227P|SLC7A2_ENST00000004531.10_Missense_Mutation_p.S227P|SLC7A2_ENST00000522656.1_Missense_Mutation_p.S187P|SLC7A2_ENST00000494857.1_Missense_Mutation_p.S187P P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 187 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) AGTAAAAGAGTCTGCTTGGGT 0.373000 76 155 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150527966 150527966 + Silent SNP T T C TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr1:150527966T>C ENST00000271643.4 + 8 1532 c.1296T>C c.(1294-1296)cgT>cgC p.R432R RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Silent_p.R455R|ADAMTSL4_ENST00000369041.5_Silent_p.R432R|ADAMTSL4_ENST00000369038.2_Silent_p.R432R NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 432 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) TCTATGTCCGTCACACTGAAA 0.607000 14 87 0 0 1 0 0 TULP2 7288 broad.mit.edu 37 19 49398288 49398288 + Nonsense_Mutation SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr19:49398288G>A ENST00000221399.3 - 6 625 c.481C>T c.(481-483)Cga>Tga p.R161* NM_003323.2 NP_003314.2 O00295 TULP2_HUMAN tubby like protein 2 161 visual perception cytoplasm|extracellular region NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) CCCTTGCGTCGGATTCTCGGA 0.522000 24 92 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57175214 57175214 + Silent SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr19:57175214G>A ENST00000537055.2 - 2 1584 c.1353C>T c.(1351-1353)tgC>tgT p.C451C NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 AGGCCTTGCCGCACTCGGGGC 0.672000 4 118 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62290231 62290231 + Silent SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr17:62290231G>A ENST00000258991.3 - 2 1431 c.1347C>T c.(1345-1347)ctC>ctT p.L449L TEX2_ENST00000584379.1_Silent_p.L449L|TEX2_ENST00000583097.1_Silent_p.L449L Q8IWB9 TEX2_HUMAN testis expressed 2 449 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) CATCTTCCGCGAGCACCTCTG 0.507000 66 230 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38407208 38407208 + Silent SNP C C T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr5:38407208C>T ENST00000322350.5 + 8 1453 c.1107C>T c.(1105-1107)tgC>tgT p.C369C EGFLAM_ENST00000336740.6_Silent_p.C135C|EGFLAM_ENST00000354891.3_Silent_p.C369C|EGFLAM_ENST00000397202.2_Intron NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 369 EGF-like 1. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) GCTCGCGATGCCAGTGCACCC 0.552000 29 77 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186277987 186277987 + Missense_Mutation SNP C C T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr1:186277987C>T ENST00000445192.2 + 7 3181 c.3136C>T c.(3136-3138)Cca>Tca p.P1046S PRG4_ENST00000367485.4_Missense_Mutation_p.P953S|PRG4_ENST00000367484.3_Missense_Mutation_p.P575S|PRG4_ENST00000367486.3_Missense_Mutation_p.P1003S|PRG4_ENST00000367483.4_Missense_Mutation_p.P1005S NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 1046 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 AGTGAGAAAACCAAAGACGAC 0.448000 62 33 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164733006 164733006 + Nonsense_Mutation SNP C C A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr3:164733006C>A ENST00000264382.3 - 33 3966 c.3904G>T c.(3904-3906)Gga>Tga p.G1302* NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1302 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTTTCATTTCCTGAAATTGCT 0.348000 HNSCC(35;0.089) 34 32 1.36615e-20 1.50276e-20 1 1 0 ZNF737 100129842 broad.mit.edu 37 19 20728170 20728170 + Missense_Mutation SNP G G C TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr19:20728170G>C ENST00000427401.4 - 4 933 c.839C>G c.(838-840)aCt>aGt p.T280S NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 280 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 TTTCTCTCCAGTATGAATTAT 0.413000 3 76 0 0 1 0 0 LCP1 3936 broad.mit.edu 37 13 46721149 46721149 + Silent SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr13:46721149G>A ENST00000398576.2 - 13 1456 c.1068C>T c.(1066-1068)gtC>gtT p.V356V LCP1_ENST00000323076.2_Silent_p.V356V P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 356 Actin-binding 1.|CH 2. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) GGTTCCCTCGGACAACATCTG 0.547000 T BCL6 NHL 69 63 0 0 1 0 0 ABCD3 5825 broad.mit.edu 37 1 94884036 94884036 + Translation_Start_Site SNP T T A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr1:94884036T>A ENST00000370214.4 + 1 26 c.2T>A c.(1-3)aTg>aAg p.M1K ABCD3_ENST00000394233.2_Start_Codon_SNP_p.M1K|ABCD3_ENST00000315713.5_Start_Codon_SNP_p.M1K|ABCD3_ENST00000454898.2_Start_Codon_SNP_p.M1K|ABCD3_ENST00000536817.1_5'UTR NM_002858.3 NP_002849.1 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D (ALD), member 3 1 Interaction with PEX19.|Targeting to peroxisomes. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) GGCAGTGCCATGGCGGCCTTC 0.726000 3 31 0 0 1 0 0 FBXO38 81545 broad.mit.edu 37 5 147820746 147820746 + Nonsense_Mutation SNP C C T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr5:147820746C>T ENST00000340253.5 + 21 3502 c.3334C>T c.(3334-3336)Cga>Tga p.R1112* FBXO38_ENST00000296701.6_Nonsense_Mutation_p.R867*|FBXO38_ENST00000394370.3_Nonsense_Mutation_p.R1037*|FBXO38_ENST00000513826.1_Nonsense_Mutation_p.R867* Q6PIJ6 FBX38_HUMAN F-box protein 38 1112 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGTCATTACGAGCTGCAGA 0.438000 52 124 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544867 23544867 + Missense_Mutation SNP T T C TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr19:23544867T>C ENST00000300619.7 - 4 1119 c.914A>G c.(913-915)cAt>cGt p.H305R ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 305 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAATGGCTAAAAGC 0.413000 8 189 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90321631 90321631 + Silent SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr9:90321631G>A ENST00000469640.2 + 27 4095 c.3720G>A c.(3718-3720)gtG>gtA p.V1240V DAPK1_ENST00000491893.1_Silent_p.V1149V|DAPK1_ENST00000472284.1_Silent_p.V1215V|DAPK1_ENST00000408954.3_Silent_p.V1215V|DAPK1_ENST00000358077.5_Silent_p.V1215V P53355 DAPK1_HUMAN death-associated protein kinase 1 1215 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 TGGACTCGGTGTGCAGCACCA 0.642000 Chronic Lymphocytic Leukemia, Familial Clustering of 3 32 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169111328 169111328 + Silent SNP C C T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr5:169111328C>T ENST00000256935.8 + 8 815 c.735C>T c.(733-735)taC>taT p.Y245Y NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 245 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGTCTCTCTACGACCCCAACA 0.493000 66 198 0 0 1 0 0 LRRC45 201255 broad.mit.edu 37 17 79985969 79985969 + Missense_Mutation SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr17:79985969G>A ENST00000306688.3 + 9 1336 c.994G>A c.(994-996)Gag>Aag p.E332K NM_144999.2 NP_659436.1 Q96CN5 LRC45_HUMAN leucine rich repeat containing 45 332 centrosome lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) AGCGGAGCAGGAGCAGCTGAG 0.682000 5 10 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 52 0 0 1 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396134 38396134 + Missense_Mutation SNP C C A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr9:38396134C>A ENST00000377698.3 + 2 542 c.389C>A c.(388-390)cCt>cAt p.P130H NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 130 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) AATGGGAAGCCTTTCCAAGAG 0.577000 80 262 4.82855e-46 5.55845e-46 1 1 0 DNA2 1763 broad.mit.edu 37 10 70182143 70182143 + Missense_Mutation SNP G G T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr10:70182143G>T ENST00000399180.2 - 17 2793 c.2794C>A c.(2794-2796)Ctg>Atg p.L932M DNA2_ENST00000399179.2_Intron|DNA2_ENST00000358410.3_Missense_Mutation_p.L846M P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 846 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 CCACACTCCAGCTTGCCCTCA 0.363000 3 62 1 1 1 1 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783741 149783741 + Silent SNP C C G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr1:149783741C>G ENST00000427880.2 - 1 184 c.138G>C c.(136-138)ctG>ctC p.L46L HIST2H2BF_ENST00000369167.1_Silent_p.L46L|HIST2H2BF_ENST00000545683.1_Silent_p.L46L|HIST2H2BF_ENST00000469483.1_5'UTR Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf 46 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) GGACCTGCTTCAGCACCTTGT 0.582000 271 387 0 0 1 0 0 GPR65 8477 broad.mit.edu 37 14 88477718 88477718 + Nonsense_Mutation SNP T T A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr14:88477718T>A ENST00000267549.3 + 2 1085 c.527T>A c.(526-528)tTa>tAa p.L176* RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 176 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 AAATACCCTTTAGAGAAATGG 0.408000 41 106 0 0 1 0 0 ZBTB43 23099 broad.mit.edu 37 9 129595533 129595533 + Missense_Mutation SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr9:129595533G>A ENST00000373464.4 + 3 1009 c.745G>A c.(745-747)Gag>Aag p.E249K ZBTB43_ENST00000373457.1_Missense_Mutation_p.E249K|ZBTB43_ENST00000449886.1_Missense_Mutation_p.E249K NM_014007.3 NP_054726.1 O43298 ZBT43_HUMAN zinc finger and BTB domain containing 43 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 CGTGAAGCCCGAGCGCTTAGA 0.617000 18 6 0 0 1 0 0 AATF 26574 broad.mit.edu 37 17 35348139 35348139 + Missense_Mutation SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr17:35348139G>A ENST00000225402.5 + 8 1632 c.1381G>A c.(1381-1383)Gat>Aat p.D461N NM_012138.3 NP_036270.1 Q9NY61 AATF_HUMAN apoptosis antagonizing transcription factor 461 RB1 and SP1 binding. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2) 18 Breast(25;0.00607) CTTTGATGATGATGACTTTTA 0.373000 38 77 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15936915 15936915 + Missense_Mutation SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr5:15936915G>A ENST00000504595.1 + 4 1577 c.1096G>A c.(1096-1098)Gtg>Atg p.V366M FBXL7_ENST00000329673.7_Missense_Mutation_p.V354M|FBXL7_ENST00000510662.1_Missense_Mutation_p.V319M NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 366 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GGTCACCGACGTGGGCATCCG 0.672000 4 34 0 0 1 0 0 NUTM2B-AS1 101060691 broad.mit.edu 37 10 81443821 81443821 + RNA SNP C C G rs150975459 by1000genomes TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr10:81443821C>G ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA GCAGCACCATCGCCTCAGACC 0.612000 6 43 0 0 1 0 0 ZNF71 58491 broad.mit.edu 37 19 57132975 57132975 + Missense_Mutation SNP G G A rs139335499 TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr19:57132975G>A ENST00000328070.6 + 3 554 c.320G>A c.(319-321)cGt>cAt p.R107H NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 107 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) CCCGTAAGGCGTGGCAAGAAC 0.582000 19 94 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126329750 126329750 + Silent SNP A A G rs145529167 TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr4:126329750A>G ENST00000394329.3 + 4 5734 c.5721A>G c.(5719-5721)gaA>gaG p.E1907E FAT4_ENST00000335110.5_Silent_p.E205E NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1907 Cadherin 18. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TAGATTATGAAGTACAGCAAT 0.328000 52 33 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47395831 47395831 + Missense_Mutation SNP G G A rs58897090 TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr1:47395831G>A ENST00000310638.4 - 12 1547 c.1516C>T c.(1516-1518)Ctc>Ttc p.L506F CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.L507F NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 506 NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V). long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) AGCCTCCTGAGACGCAGGTGG 0.577000 5 87 0 0 1 0 0 NSA2 10412 broad.mit.edu 37 5 74072447 74072447 + Missense_Mutation SNP C C T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr5:74072447C>T ENST00000296802.5 + 6 1103 c.734C>T c.(733-735)aCc>aTc p.T245I NM_014886.3 NP_055701.1 O95478 NSA2_HUMAN NSA2 ribosome biogenesis homolog (S. cerevisiae) 245 rRNA processing nucleolus|ribonucleoprotein complex breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1) 7 GCCCAGGTTACCAACAATCCT 0.318000 96 127 0 0 1 0 0 ACOT4 122970 broad.mit.edu 37 14 74059007 74059007 + Missense_Mutation SNP A A G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr14:74059007A>G ENST00000326303.4 + 1 598 c.344A>G c.(343-345)gAg>gGg p.E115G NM_152331.3 NP_689544.3 Q8N9L9 ACOT4_HUMAN acyl-CoA thioesterase 4 115 acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process peroxisome carboxylesterase activity|palmitoyl-CoA hydrolase activity endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(234;0.00331) CACGACCCCGAGCCTGGACGG 0.692000 9 20 0 0 1 0 0 SGCA 6442 broad.mit.edu 37 17 48246488 48246488 + Missense_Mutation SNP C C G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr17:48246488C>G ENST00000262018.3 + 6 656 c.620C>G c.(619-621)tCt>tGt p.S207C SGCA_ENST00000513942.1_Intron|SGCA_ENST00000344627.6_Intron|SGCA_ENST00000451235.2_Missense_Mutation_p.S105C|SGCA_ENST00000543315.1_Intron NM_000023.2 NP_000014.1 Q16586 SGCA_HUMAN sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 207 muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1) 14 TCACCTTTTTCTACTTGCCTG 0.592000 OREG0024558 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 67 89 0 0 1 0 0 KIAA1324 57535 broad.mit.edu 37 1 109734382 109734382 + Missense_Mutation SNP C C T rs41279692 TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr1:109734382C>T ENST00000369939.3 + 13 1763 c.1580C>T c.(1579-1581)aCg>aTg p.T527M KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.T440M NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 527 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) CCTGTGGAGACGTGGAAAGGT 0.537000 134 23 0 0 1 0 0 AP3B2 8120 broad.mit.edu 37 15 83346082 83346082 + Missense_Mutation SNP G G C TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr15:83346082G>C ENST00000261722.3 - 13 1639 c.1432C>G c.(1432-1434)Cca>Gca p.P478A AP3B2_ENST00000535359.1_Missense_Mutation_p.P478A|AP3B2_ENST00000535348.1_Missense_Mutation_p.P446A|RP11-752G15.3_ENST00000560650.1_RNA NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 478 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) TGTTGTGCTGGCTGCATCTGT 0.478000 6 40 0 0 1 0 0 GRK6 2870 broad.mit.edu 37 5 176860178 176860178 + Silent SNP T T C TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr5:176860178T>C ENST00000355472.5 + 6 639 c.471T>C c.(469-471)ccT>ccC p.P157P GRK6_ENST00000355958.5_Silent_p.P157P|GRK6_ENST00000528793.1_Silent_p.P157P|GRK6_ENST00000393576.3_Silent_p.P157P|GRK6_ENST00000507633.1_Silent_p.P157P NM_001004106.2|NM_002082.3 NP_001004106.1|NP_002073.2 P43250 GRK6_HUMAN G protein-coupled receptor kinase 6 157 N-terminal.|RGS. regulation of G-protein coupled receptor protein signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1) 25 all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCGTGGCCCCTTTTGCCGACT 0.627000 4 236 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164785 139164785 + Missense_Mutation SNP T T G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr8:139164785T>G ENST00000395297.1 - 13 2103 c.1933A>C c.(1933-1935)Agt>Cgt p.S645R NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 645 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGGGTAGAACTTAGTGGATCA 0.488000 HNSCC(54;0.14) 41 111 0 0 1 0 0 PACS1 55690 broad.mit.edu 37 11 65983735 65983735 + Splice_Site SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr11:65983735G>A ENST00000320580.4 + 5 838 c.e5+1 NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 AAGCTTTCTGGTAAGAAGCAT 0.498000 6 44 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201195105 201195105 + Missense_Mutation SNP C C T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr1:201195105C>T ENST00000335211.4 + 22 10770 c.10640C>T c.(10639-10641)gCa>gTa p.A3547V IGFN1_ENST00000295591.8_3'UTR NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TGGCACGAGGCAGCCGACCGC 0.667000 18 84 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79060510 79060510 + Missense_Mutation SNP T T G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr15:79060510T>G ENST00000388820.4 - 17 2820 c.2610A>C c.(2608-2610)caA>caC p.Q870H ADAMTS7_ENST00000566303.1_5'UTR NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 870 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 ACTTCCTCTGTTGGTCATCAG 0.697000 3 36 0 0 1 0 0 SLC6A18 348932 broad.mit.edu 37 5 1232963 1232963 + Silent SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr5:1232963G>A ENST00000324642.3 + 3 522 c.399G>A c.(397-399)ccG>ccA p.P133P SLC6A18_ENST00000296821.4_Silent_p.P133P NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 133 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCCAGCACCCGCTGCCCTGGA 0.642000 48 203 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 3 144 0 0 1 0 0 RTL1 388015 broad.mit.edu 37 14 101348096 101348096 + Silent SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr14:101348096G>A ENST00000534062.1 - 1 3088 c.3030C>T c.(3028-3030)gcC>gcT p.A1010A NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 1010 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 TTTGCCTGGCGGCAGTGTTCC 0.577000 11 4 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76528954 76528954 + Missense_Mutation SNP G G A rs138136389 byFrequency TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr16:76528954G>A ENST00000307431.8 + 15 2610 c.2225G>A c.(2224-2226)cGg>cAg p.R742Q CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R670Q|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.R746Q|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R694Q|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 743 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GATGCTGACCGGAATGAATGG 0.358000 50 88 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163059576 163059576 + Missense_Mutation SNP T T C TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr2:163059576T>C ENST00000188790.4 - 13 1334 c.1127A>G c.(1126-1128)cAt>cGt p.H376R FAP_ENST00000443424.1_Missense_Mutation_p.H351R NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 376 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 ATAGTGAATATGTTTGTAGCC 0.363000 24 34 0 0 1 0 0 IFNA16 3449 broad.mit.edu 37 9 21217066 21217066 + Missense_Mutation SNP A A T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr9:21217066A>T ENST00000380216.1 - 1 244 c.239T>A c.(238-240)tTc>tAc p.F80Y NM_002173.2 NP_002164.1 P05015 IFN16_HUMAN interferon, alpha 16 80 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) CATCTCATGGAAGGCAGAGAT 0.468000 115 14 0 0 1 0 0 SLC16A12 387700 broad.mit.edu 37 10 91198576 91198576 + Silent SNP C C T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr10:91198576C>T ENST00000341233.4 - 6 1113 c.723G>A c.(721-723)ttG>ttA p.L241L SLC16A12_ENST00000371790.4_Silent_p.L271L NM_213606.3 NP_998771.3 Q6ZSM3 MOT12_HUMAN solute carrier family 16, member 12 241 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1) 14 ACTCTTGCTGCAAACAGCAAC 0.448000 36 9 0 0 1 0 0 PPEF2 5470 broad.mit.edu 37 4 76797597 76797597 + Missense_Mutation SNP C C T rs140029551 byFrequency TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr4:76797597C>T ENST00000286719.7 - 11 1519 c.1163G>A c.(1162-1164)cGg>cAg p.R388Q NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 388 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CCGCACCTGCCGGGAGAGCTC 0.672000 17 39 0 0 1 0 0 GALC 2581 broad.mit.edu 37 14 88442747 88442747 + Missense_Mutation SNP G G T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr14:88442747G>T ENST00000261304.2 - 7 813 c.707C>A c.(706-708)tCc>tAc p.S236Y GALC_ENST00000393568.4_Missense_Mutation_p.S213Y|GALC_ENST00000393569.2_Missense_Mutation_p.S210Y|GALC_ENST00000554916.1_5'UTR|GALC_ENST00000544807.2_Missense_Mutation_p.S180Y NM_000153.3|NM_001201401.1 NP_000144.2|NP_001188330.1 P54803 GALC_HUMAN galactosylceramidase 236 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AAGGAGCATGGATGCAGAGAT 0.398000 66 47 3.26865e-45 3.71949e-45 1 1 0 FDXR 2232 broad.mit.edu 37 17 72863050 72863050 + Silent SNP C C T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr17:72863050C>T ENST00000442102.2 - 3 341 c.255G>A c.(253-255)gcG>gcA p.A85A FDXR_ENST00000582944.1_Intron|FDXR_ENST00000544854.1_Intron|FDXR_ENST00000455107.2_Intron|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000581969.1_Intron|FDXR_ENST00000581530.1_Intron|FDXR_ENST00000583917.1_Intron|FDXR_ENST00000293195.5_Intron|FDXR_ENST00000413947.2_Intron NM_001258012.1 NP_001244941.1 P22570 ADRO_HUMAN ferredoxin reductase 59 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) GAGGCTGGGACGCCCCCAGGT 0.622000 5 11 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 32 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23701589 23701589 + Silent SNP A A G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr9:23701589A>G ENST00000397312.2 - 5 775 c.501T>C c.(499-501)ggT>ggC p.G167G ELAVL2_ENST00000380110.4_Silent_p.G196G|ELAVL2_ENST00000380117.1_Silent_p.G167G|ELAVL2_ENST00000223951.6_Silent_p.G167G|ELAVL2_ENST00000544538.1_Silent_p.G167G NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 167 RRM 2. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TAAACCCTACACCCCTTGATA 0.438000 5 107 0 0 1 0 0 PIWIL3 440822 broad.mit.edu 37 22 25145722 25145722 + Missense_Mutation SNP T T C TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr22:25145722T>C ENST00000332271.5 - 10 1570 c.1154A>G c.(1153-1155)aAg>aGg p.K385R PIWIL3_ENST00000533313.1_Missense_Mutation_p.K276R|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.K276R NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 385 PAZ. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CGTTAGGCCCTTTTTCCATCT 0.468000 3 109 0 0 1 0 0 PCP4L1 654790 broad.mit.edu 37 1 161254154 161254156 + In_Frame_Del DEL GGA GGA - TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr1:161254154_161254156delGGA ENST00000504449.1 + 3 338_340 c.90_92delGGA c.(88-93)gcg>gc p.AE30del NM_001102566.1 NP_001096036.1 A6NKN8 PC4L1_HUMAN Purkinje cell protein 4 like 1 30 p.A30A(1)|p.E35delE(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(52;4.16e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCAAGAAGGCGGAGGAGGAGGAG 0.488 8 382 --- --- --- --- PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 3 4 --- --- --- --- VCAN 1462 broad.mit.edu 37 5 82816057 82816057 + Frame_Shift_Del DEL T T - TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr5:82816057delT ENST00000265077.3 + 7 2497 c.1932delT c.(1930-1932)ccfs p.P644fs VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Frame_Shift_Del_p.P644fs|VCAN_ENST00000512590.2_Frame_Shift_Del_p.P596fs NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 644 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CTACTACACCTTTTCCATCAC 0.368 8 849 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89693002 89693003 + Frame_Shift_Ins INS - - A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr10:89693002_89693003insA ENST00000371953.3 + 5 1843_1844 c.486_487insA c.(484-489)gaaaaafs p.EK162fs NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 162 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K163*(2)|p.Y27fs*1(2)|p.F56fs*2(1)|p.D162fs*8(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GGACCAGAGACAAAAAGGTAAG 0.351 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 43 8 --- --- --- --- HPS1 3257 broad.mit.edu 37 10 100186987 100186987 + Frame_Shift_Del DEL G G - TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr10:100186987delG ENST00000325103.6 - 11 1205 c.972delC c.(970-972)ccfs p.P324fs HPS1_ENST00000361490.4_Frame_Shift_Del_p.P324fs|HPS1_ENST00000467246.1_5'UTR NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 324 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity p.M325fs*128(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) GGGCATCCATGGGGGGGGTGC 0.572 Hermansky-Pudlak syndrome 2 4 --- --- --- --- RP11-789A21.1 0 broad.mit.edu 37 14 85671210 85671210 + RNA DEL G G - TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr14:85671210delG ENST00000556016.1 - 0 209 cactccctctggggcttcggg 0.572 2 4 --- --- --- --- ZCCHC14 23174 broad.mit.edu 37 16 87445976 87445979 + Frame_Shift_Del DEL GCAG GCAG - rs143691635 TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr16:87445976_87445979delGCAG ENST00000268616.4 - 12 2154_2157 c.1937_1940delCTGC c.(1936-1941)ctfs p.PA646fs NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 646 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) GGCAGAATCAGCAGGAACAGATGA 0.583 73 325 --- --- --- --- FANCA 2175 broad.mit.edu 37 16 89806404 89806405 + Frame_Shift_Del DEL CT CT - TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr16:89806404_89806405delCT ENST00000389301.3 - 39 3961_3962 c.3931_3932delAG c.(3931-3933)tfs p.S1311fs FANCA_ENST00000568369.1_Frame_Shift_Del_p.S1311fs|ZNF276_ENST00000289816.5_3'UTR NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 1311 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) TTTCTTACCACTCTCTGTCAAC 0.510 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 70 214 --- --- --- --- MYO1C 4641 broad.mit.edu 37 17 1378283 1378284 + Frame_Shift_Ins INS - - T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr17:1378283_1378284insT ENST00000359786.5 - 15 1941_1942 c.1617_1618insA c.(1615-1620)cggggafs p.RG539fs MYO1C_ENST00000545534.2_Frame_Shift_Ins_p.RG515fs|MYO1C_ENST00000575158.1_Frame_Shift_Ins_p.RG504fs|MYO1C_ENST00000438665.2_Frame_Shift_Ins_p.RG520fs|MYO1C_ENST00000361007.2_Frame_Shift_Ins_p.RG504fs NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 539 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CGGAATTCCCCTCGGCCCAGAG 0.668 2 4 --- --- --- --- DNAH9 1770 broad.mit.edu 37 17 11837333 11837333 + Frame_Shift_Del DEL C C - TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr17:11837333delC ENST00000262442.3 + 65 12502 c.12434delC c.(12433-12435)ttfs p.S4145fs DNAH9_ENST00000396001.2_Frame_Shift_Del_p.S457fs|DNAH9_ENST00000454412.2_Frame_Shift_Del_p.S4069fs NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4145 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGAGAACTGTCTTTGGCCCCA 0.502 73 147 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29553542 29553542 + Frame_Shift_Del DEL C C - TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr17:29553542delC ENST00000358273.4 + 18 2474 c.2091delC c.(2089-2091)aafs p.N697fs NF1_ENST00000356175.3_Frame_Shift_Del_p.N697fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 697 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TTCTGTGGAACCCTGACACTG 0.542 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 113 44 --- --- --- --- GATA6 2627 broad.mit.edu 37 18 19752073 19752075 + In_Frame_Del DEL ACC ACC - TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr18:19752073_19752075delACC ENST00000269216.3 + 2 1245_1247 c.968_970delACC c.(967-972)tac>t p.YH323del GATA6_ENST00000581694.1_In_Frame_Del_p.YH323del NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 323 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) AACGGGACGTaccaccaccacca 0.749 2 4 --- --- --- --- NUCB1 4924 broad.mit.edu 37 19 49425109 49425111 + In_Frame_Del DEL AGC AGC - TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr19:49425109_49425111delAGC ENST00000405315.4 + 12 1533_1535 c.1199_1201delAGC c.(1198-1203)aag>a p.KQ400del NUCB1_ENST00000263273.5_In_Frame_Del_p.KQ400del|NUCB1_ENST00000407032.1_In_Frame_Del_p.KQ400del|NUCB1_ENST00000485798.1_3'UTR NM_006184.5 NP_006175.2 Q02818 NUCB1_HUMAN nucleobindin 1 400 ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) Gagcagcggaagcagcagcagca 0.640 8 155 --- --- --- --- MICAL3 57553 broad.mit.edu 37 22 18314825 18314827 + In_Frame_Del DEL CTC CTC - TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr22:18314825_18314827delCTC ENST00000441493.2 - 21 3200_3202 c.2848_2850delGAG c.(2848-2850)del p.E950del NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 950 Glu-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GCAGGCGAGGctcctcctcctcc 0.557 7 41 --- --- --- ---