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 POGK 57645 broad.mit.edu 37 1 166818806 166818806 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:166818806C>G ENST00000367875.1 + 5 1350 c.990C>G c.(988-990)caC>caG p.H330Q POGK_ENST00000367876.4_Missense_Mutation_p.H330Q|POGK_ENST00000536514.1_Missense_Mutation_p.H245Q|POGK_ENST00000537173.1_Missense_Mutation_p.H212Q Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 330 multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 22 TGCCCCAGCACCTGCCGGAAG 0.547000 35 118 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86304318 86304318 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:86304318G>C ENST00000370571.2 - 43 3997 c.3631C>G c.(3631-3633)Cca>Gca p.P1211A COL24A1_ENST00000436319.1_Missense_Mutation_p.P1211A NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1211 Collagen-like 13. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TCCCCCACTGGACCCTACAGA 0.408000 25 133 0 0 1 0 0 MIR1205 100302161 broad.mit.edu 37 8 128972938 128972938 + RNA SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr8:128972938C>G ENST00000408844.1 + 0 60 NR_031610.1 GTTCTGGAGTCtgtctccatt 0.413000 5 52 0 0 1 0 0 SESN3 143686 broad.mit.edu 37 11 94910950 94910950 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:94910950C>T ENST00000536441.1 - 8 1516 c.1180G>A c.(1180-1182)Gag>Aag p.E394K RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.E255K NM_001271594.1|NM_144665.2 NP_001258523.1|NP_653266.2 P58005 SESN3_HUMAN sestrin 3 394 cell cycle arrest nucleus endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1) 16 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) TCAACATCCTCATGGGTGGCC 0.388000 11 84 0 0 1 0 0 METTL12 751071 broad.mit.edu 37 11 62434192 62434192 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:62434192C>T ENST00000532971.1 + 3 649 c.392C>T c.(391-393)cCt>cTt p.P131L METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000532208.1_Intron|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000354588.3_Intron NM_001043229.1 NP_001036694.1 A8MUP2 MTL12_HUMAN methyltransferase like 12 131 mitochondrion methyltransferase activity endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 6 CCTCTATGCCCTGGACACCCT 0.597000 11 61 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4199012 4199012 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:4199012C>T ENST00000296358.4 - 5 1573 c.1549G>A c.(1549-1551)Gag>Aag p.E517K NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 517 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTGCTCTCCTCCTGCTTCTCC 0.567000 8 80 0 0 1 0 0 DGKZ 8525 broad.mit.edu 37 11 46397494 46397494 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:46397494G>T ENST00000454345.1 + 22 2693 c.2568G>T c.(2566-2568)aaG>aaT p.K856N DGKZ_ENST00000318201.8_Missense_Mutation_p.K645N|DGKZ_ENST00000528615.1_Missense_Mutation_p.K446N|DGKZ_ENST00000343674.6_Missense_Mutation_p.K684N|DGKZ_ENST00000395574.3_Missense_Mutation_p.K634N|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Missense_Mutation_p.K667N|DGKZ_ENST00000532868.2_Missense_Mutation_p.K672N|DGKZ_ENST00000421244.2_Missense_Mutation_p.K668N|DGKZ_ENST00000527911.1_Missense_Mutation_p.K668N NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 856 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) AGCAGCTCAAGGAGGCCTGTG 0.687000 3 16 0.004672 0.0047615 1 1 0 ADAD1 132612 broad.mit.edu 37 4 123317468 123317468 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:123317468A>G ENST00000296513.2 + 7 845 c.660A>G c.(658-660)ctA>ctG p.L220L ADAD1_ENST00000388724.2_Silent_p.L220L|ADAD1_ENST00000388725.2_Silent_p.L202L|ADAD1_ENST00000492454.1_3'UTR NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 220 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TTAATCAACTAATTTCTAATC 0.284000 8 61 0 0 1 0 0 PGBD1 84547 broad.mit.edu 37 6 28269267 28269267 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:28269267G>A ENST00000405948.2 + 7 2056 c.1636G>A c.(1636-1638)Gat>Aat p.D546N PGBD1_ENST00000259883.3_Missense_Mutation_p.D546N NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 546 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 CTATTGCTTTGATAAGTCAAT 0.348000 17 144 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42171661 42171661 + Silent SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:42171661G>C ENST00000320955.6 - 16 3206 c.2979C>G c.(2977-2979)gcC>gcG p.A993A NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 993 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CCAGCTGCACGGCCTTCTCCC 0.632000 4 6 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100170804 100170804 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:100170804C>G ENST00000409236.2 - 22 3640 c.3528G>C c.(3526-3528)gaG>gaC p.E1176D AFF3_ENST00000356421.2_Missense_Mutation_p.E1201D|AFF3_ENST00000317233.4_Missense_Mutation_p.E1176D|AFF3_ENST00000409579.1_Missense_Mutation_p.E1201D P51826 AFF3_HUMAN AF4/FMR2 family, member 3 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TGTCGGCCATCTCCCAGTAGT 0.632000 10 190 0 0 1 0 0 FNIP2 57600 broad.mit.edu 37 4 159782529 159782529 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:159782529T>C ENST00000264433.6 + 11 1259 c.1184T>C c.(1183-1185)aTa>aCa p.I395T FNIP2_ENST00000379346.3_Missense_Mutation_p.I418T NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 395 DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) GTTCCAAGGATAGCTGAACCT 0.393000 3 38 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196659330 196659330 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:196659330G>A ENST00000367429.4 + 9 1537 c.1297G>A c.(1297-1299)Gag>Aag p.E433K CFH_ENST00000439155.2_Missense_Mutation_p.E433K|CFH_ENST00000359637.2_Missense_Mutation_p.E369K NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 433 Sushi 7. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TACATGTATGGAGAATGGCTG 0.433000 5 112 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43152278 43152278 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:43152278C>T ENST00000252050.4 + 2 314 c.230C>T c.(229-231)cCt>cTt p.P77L CUL9_ENST00000354495.3_Missense_Mutation_p.P77L|CUL9_ENST00000372647.2_Missense_Mutation_p.P77L NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 77 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 GCCAACTGCCCTGGGCTGTTA 0.572000 6 91 0 0 1 0 0 ZBTB38 253461 broad.mit.edu 37 3 141161237 141161237 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:141161237G>A ENST00000514251.1 + 4 286 c.7G>A c.(7-9)Gtc>Atc p.V3I ZBTB38_ENST00000321464.5_Missense_Mutation_p.V4I|ZBTB38_ENST00000441582.2_Missense_Mutation_p.V3I Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 3 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 TCAGATGACAGTCATGTCCCT 0.438000 19 121 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122667521 122667521 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:122667521C>T ENST00000195173.4 - 3 463 c.160G>A c.(160-162)Gca>Aca p.A54T SEMA5B_ENST00000357599.3_Missense_Mutation_p.A54T|SEMA5B_ENST00000465147.1_5'UTR|SEMA5B_ENST00000451055.2_Missense_Mutation_p.A108T Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 54 cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GGCCCCTCTGCAGTCCTAGCT 0.612000 6 52 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151919766 151919766 + Splice_Site SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:151919766A>G ENST00000355193.2 - 21 3543 c.3325T>C c.(3325-3327)Tgg>Cgg p.W1109R KMT2C_ENST00000262189.6_Splice_Site_p.W1109R lysine (K)-specific methyltransferase 2C GCATGCATCCATCTAAAAAGA 0.348000 6 33 0 0 1 0 0 TTC37 9652 broad.mit.edu 37 5 94845328 94845328 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:94845328A>T ENST00000358746.2 - 29 3282 c.2984T>A c.(2983-2985)cTg>cAg p.L995Q TTC37_ENST00000515176.1_5'UTR NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 995 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 TTCCTTTTTCAGTTGTAGATG 0.368000 6 49 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3187533 3187533 + Nonsense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr18:3187533C>A ENST00000356443.4 - 5 1207 c.874G>T c.(874-876)Gag>Tag p.E292* MYOM1_ENST00000261606.7_Nonsense_Mutation_p.E292*|MYOM1_ENST00000400569.3_Nonsense_Mutation_p.E292* NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 292 Ig-like C2-type 1. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TTTACATTCTCCTTCTCCCAA 0.433000 8 164 3.86212e-05 3.99737e-05 1 1 0 EPHB2 2048 broad.mit.edu 37 1 23233202 23233202 + Splice_Site SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:23233202G>C ENST00000400191.3 + 11 1906 c.e11-1 EPHB2_ENST00000374632.3_Splice_Site|EPHB2_ENST00000374630.3_Splice_Site|EPHB2_ENST00000374627.1_Splice_Site NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) TTCTCTCTCAGGGGAGTTTGG 0.567000 7 48 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15952254 15952254 + Nonsense_Mutation SNP G G C rs144480346 byFrequency TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:15952254G>C ENST00000268712.3 - 41 6698 c.6441C>G c.(6439-6441)taC>taG p.Y2147* NCOR1_ENST00000395857.3_Nonsense_Mutation_p.Y731*|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Y2044* NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 2147 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding p.Y2147*(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AGATGGGCTCGTAGGGCTCCG 0.522000 18 102 0 0 1 0 0 RABEP2 79874 broad.mit.edu 37 16 28919983 28919983 + Nonsense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:28919983G>A ENST00000358201.4 - 8 1780 c.1192C>T c.(1192-1194)Cag>Tag p.Q398* RABEP2_ENST00000357573.6_Nonsense_Mutation_p.Q366*|RABEP2_ENST00000544477.1_Nonsense_Mutation_p.Q327* NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 398 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 TGCGAGCCCTGGGGGGCTGAG 0.642000 19 191 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51217160 51217160 + Silent SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:51217160C>A ENST00000293441.1 - 5 705 c.687G>T c.(685-687)gtG>gtT p.V229V SHANK1_ENST00000359082.3_Silent_p.V229V|SHANK1_ENST00000391814.1_Silent_p.V229V NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 229 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GGGTTCGAATCACCTCTACAG 0.647000 4 62 0.0293803 0.0294912 1 1 0 THOP1 7064 broad.mit.edu 37 19 2810332 2810332 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:2810332G>A ENST00000307741.6 + 10 1689 c.1486G>A c.(1486-1488)Gtg>Atg p.V496M THOP1_ENST00000586677.1_Missense_Mutation_p.V375M|THOP1_ENST00000591149.1_3'UTR|THOP1_ENST00000395212.4_Missense_Mutation_p.V7M NM_003249.3 NP_003240.1 P52888 THOP1_HUMAN thimet oligopeptidase 1 496 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1) 14 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGGACCCACGTGGAGCGGGA 0.692000 4 55 0 0 1 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19427653 19427653 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:19427653T>A ENST00000538714.1 + 10 1035 c.1031T>A c.(1030-1032)gTa>gAa p.V344E PLEKHA5_ENST00000299275.6_Missense_Mutation_p.V344E|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.V344E|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.V102E|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.V344E|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.V236E|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.V344E|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.V350E|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.V236E|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.V344E NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 344 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) ATTAATAGTGTAAAGCTGAAT 0.383000 23 127 0 0 1 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27835242 27835242 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:27835242C>G ENST00000331442.3 - 1 117 c.66G>C c.(64-66)aaG>aaC p.K22N NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 22 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 TAGTTGCCTTCTTCTTAGCCG 0.602000 3 53 0 0 1 0 0 KCNK5 8645 broad.mit.edu 37 6 39159465 39159465 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:39159465C>A ENST00000359534.3 - 5 1039 c.701G>T c.(700-702)gGg>gTg p.G234V NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 234 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 CCAGGCCAGCCCCAAGTAGAT 0.577000 22 180 1.10923e-09 1.19214e-09 1 1 0 ZBTB40 9923 broad.mit.edu 37 1 22816495 22816495 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:22816495C>T ENST00000404138.1 + 3 565 c.54C>T c.(52-54)tgC>tgT p.C18C ZBTB40_ENST00000375647.4_Silent_p.C18C|ZBTB40_ENST00000374651.4_Silent_p.C18C NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 18 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) ACACTCTGTGCAAGGAGCAGC 0.547000 13 126 0 0 1 0 0 FUT8 2530 broad.mit.edu 37 14 66208906 66208906 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:66208906G>C ENST00000360689.5 + 11 3233 c.1506G>C c.(1504-1506)caG>caC p.Q502H FUT8_ENST00000394585.1_Missense_Mutation_p.Q502H|FUT8_ENST00000358307.2_Missense_Mutation_p.Q373H|FUT8_ENST00000557164.1_Missense_Mutation_p.Q339H|FUT8_ENST00000394586.2_Missense_Mutation_p.Q502H|FUT8_ENST00000417683.1_Missense_Mutation_p.Q96H NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 502 SH3. in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) TTGGGGGCCAGAATGCCCACA 0.433000 8 172 0 0 1 0 0 CSNK1A1 1452 broad.mit.edu 37 5 148929685 148929685 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:148929685G>T ENST00000261798.5 - 2 615 c.183C>A c.(181-183)agC>agA p.S61R CSNK1A1_ENST00000377843.2_Missense_Mutation_p.S61R|CSNK1A1_ENST00000515435.1_5'UTR|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.S61R|CSNK1A1_ENST00000515748.2_Missense_Mutation_p.S61R|CSNK1A1_ENST00000504676.1_5'UTR NM_001271741.1 NP_001258670.1 P48729 KC1A_HUMAN casein kinase 1, alpha 1 61 Protein kinase. cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) TATAGAGCTTGCTCTCGTACA 0.542000 14 167 6.94344e-10 7.49272e-10 1 1 0 CHAF1B 8208 broad.mit.edu 37 21 37766929 37766929 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr21:37766929C>T ENST00000314103.5 + 5 613 c.462C>T c.(460-462)atC>atT p.I154I CHAF1B_ENST00000480486.1_3'UTR NM_005441.2 NP_005432.1 Q13112 CAF1B_HUMAN chromatin assembly factor 1, subunit B (p60) cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 ACACAGCCATCATATGGGATG 0.363000 6 161 0 0 1 0 0 PHYKPL 85007 broad.mit.edu 37 5 177640080 177640080 + Silent SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:177640080C>G ENST00000308158.5 - 11 1431 c.1197G>C c.(1195-1197)ctG>ctC p.L399L PHYKPL_ENST00000481811.1_5'UTR NM_153373.2 NP_699204.1 5-phosphohydroxy-L-lysine phospho-lyase CATCAGTGCTCAGCAAAACGT 0.567000 7 101 0 0 1 0 0 JAK3 3718 broad.mit.edu 37 19 17942037 17942037 + Splice_Site SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:17942037C>G ENST00000458235.1 - 21 3077 c.2978G>C c.(2977-2979)tGg>tCg p.W993S JAK3_ENST00000527670.1_Splice_Site_p.W993S|JAK3_ENST00000534444.1_Splice_Site_p.W993S NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 993 Protein kinase 2. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 GGTTCCCCACCAGAAAATGGG 0.662000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 10 74 0 0 1 0 0 GNAZ 2781 broad.mit.edu 37 22 23438386 23438386 + Silent SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr22:23438386T>C ENST00000248996.4 + 2 1170 c.504T>C c.(502-504)taT>taC p.Y168Y RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 168 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) CAGCTGACTATATCCCCACTG 0.607000 11 90 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579271 82579271 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:82579271C>T ENST00000333891.9 - 6 10970 c.10633G>A c.(10633-10635)Gcc>Acc p.A3545T PCLO_ENST00000423517.2_Missense_Mutation_p.A3545T|PCLO_ENST00000437081.1_Missense_Mutation_p.A265T NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCTACCTTGGCATCCACTCGT 0.443000 8 57 0 0 1 0 0 RAB11A 8766 broad.mit.edu 37 15 66172008 66172008 + Splice_Site SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:66172008G>A ENST00000261890.2 + 4 558 c.e4-1 RAB11A_ENST00000569896.1_Splice_Site|RAB11A_ENST00000564910.1_Splice_Site|RAB11A_ENST00000435304.2_Intron|RAB11A_ENST00000565075.1_Intron NM_001206836.1|NM_004663.4 NP_001193765.1|NP_004654.1 P62491 RB11A_HUMAN RAB11A, member RAS oncogene family cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network GTP binding|GTPase activity|syntaxin binding kidney(1)|large_intestine(2)|lung(1)|prostate(1) 5 TCTCCCCTCAGAAAAGAATGG 0.338000 10 155 0 0 1 0 0 CPA2 1358 broad.mit.edu 37 7 129929559 129929559 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:129929559T>C ENST00000222481.4 + 11 1287 c.1232T>C c.(1231-1233)aTg>aCg p.M411T NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 411 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) AAGGCAATCATGGAGCATGTG 0.522000 29 124 0 0 1 0 0 GBP1 2633 broad.mit.edu 37 1 89525999 89525999 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:89525999G>T ENST00000370473.4 - 3 418 c.199C>A c.(199-201)Ctg>Atg p.L67M NM_002053.2 NP_002044.2 P32455 GBP1_HUMAN guanylate binding protein 1, interferon-inducible 67 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 30 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) GTGGAGCCCAGAGAGAAGCCT 0.517000 14 112 1.99824e-07 2.11765e-07 1 1 0 ACCSL 390110 broad.mit.edu 37 11 44075044 44075044 + Missense_Mutation SNP A A C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:44075044A>C ENST00000378832.1 + 8 1093 c.1037A>C c.(1036-1038)gAa>gCa p.E346A NM_001031854.2 NP_001027025.2 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 346 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2) 34 AAATACCTGGAATTTGCCAAG 0.448000 8 63 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101295535 101295535 + Nonsense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:101295535C>G ENST00000538618.1 + 4 470 c.470C>G c.(469-471)tCa>tGa p.S157* ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000299222.9_5'UTR Q32M45 ANO4_HUMAN anoctamin 4 0 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 AGGCATTCCTCACTCCCACCA 0.522000 HNSCC(74;0.22) 5 142 0 0 1 0 0 STIL 6491 broad.mit.edu 37 1 47746122 47746122 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:47746122C>G ENST00000360380.3 - 13 2371 c.2008G>C c.(2008-2010)Gat>Cat p.D670H STIL_ENST00000371877.3_Missense_Mutation_p.D670H|STIL_ENST00000396221.2_Missense_Mutation_p.D670H|STIL_ENST00000337817.5_Missense_Mutation_p.D670H|STIL_ENST00000243182.6_Missense_Mutation_p.D670H NM_001282936.1 NP_001269865.1 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 670 PIN1-binding (By similarity). cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) CTGCCCATATCTCCCTGAGGT 0.473000 50 135 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51824706 51824706 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:51824706T>C ENST00000371117.3 - 36 6145 c.5870A>G c.(5869-5871)gAc>gGc p.D1957G PKHD1_ENST00000340994.4_Missense_Mutation_p.D1957G NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1957 G8 1. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TGTGTTAGTGTCCAGCAGAAG 0.453000 OREG0017492 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 210 0 0 1 0 0 C12orf43 64897 broad.mit.edu 37 12 121454163 121454163 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:121454163G>A ENST00000445832.3 - 1 127 c.25C>T c.(25-27)Cgc>Tgc p.R9C C12orf43_ENST00000288757.3_Missense_Mutation_p.R39C|C12orf43_ENST00000536407.2_Missense_Mutation_p.R39C|C12orf43_ENST00000537817.1_Missense_Mutation_p.R9C|C12orf43_ENST00000539736.1_Missense_Mutation_p.R39C|C12orf43_ENST00000366211.2_De_novo_Start_InFrame Q96C57 CL043_HUMAN chromosome 12 open reading frame 43 39 cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ACGTGCGGGCGTTGCTCCAAG 0.627000 10 50 0 0 1 0 0 GLIPR1L2 144321 broad.mit.edu 37 12 75784898 75784898 + Translation_Start_Site SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:75784898T>C ENST00000550916.1 + 1 49 c.2T>C c.(1-3)aTg>aCg p.M1T GLIPR1L2_ENST00000547164.1_Start_Codon_SNP_p.M1T|GLIPR1L2_ENST00000378689.2_Start_Codon_SNP_p.M1T|GLIPR1L2_ENST00000435775.1_Start_Codon_SNP_p.M1T|GLIPR1L2_ENST00000378692.3_5'UTR|GLIPR1L2_ENST00000320460.4_Start_Codon_SNP_p.M1T NM_001270396.1 NP_001257325.1 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 1 integral to membrane kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 CGGTGGACCATGGAGGCCGCA 0.682000 OREG0021999 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 21 0 0 1 0 0 HADHA 3030 broad.mit.edu 37 2 26414194 26414194 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:26414194G>A ENST00000380649.3 - 20 2346 c.2217C>T c.(2215-2217)gcC>gcT p.A739A NM_000182.4 NP_000173.2 P40939 ECHA_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 739 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1) 30 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) GTTTTCCATAGGCAGCTTCAT 0.512000 6 66 0 0 1 0 0 KRIT1 889 broad.mit.edu 37 7 91855114 91855114 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:91855114G>C ENST00000394507.1 - 13 1957 c.1174C>G c.(1174-1176)Cca>Gca p.P392A KRIT1_ENST00000394505.2_Missense_Mutation_p.P392A|KRIT1_ENST00000412043.2_Missense_Mutation_p.P392A|KRIT1_ENST00000340022.2_Missense_Mutation_p.P392A|KRIT1_ENST00000394503.2_Missense_Mutation_p.P344A NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing 392 angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ATATTTAATGGAGATCTTCCT 0.348000 11 87 0 0 1 0 0 SLC38A2 54407 broad.mit.edu 37 12 46760696 46760696 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:46760696C>G ENST00000256689.5 - 7 958 c.514G>C c.(514-516)Gag>Cag p.E172Q SLC38A2_ENST00000547252.1_5'UTR NM_018976.4 NP_061849.2 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 172 cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) AAAGGCAACTCATATTTCACT 0.388000 3 92 0 0 1 0 0 PLK3 1263 broad.mit.edu 37 1 45266717 45266717 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:45266717G>C ENST00000372201.4 + 3 567 c.328G>C c.(328-330)Gag>Cag p.E110Q PLK3_ENST00000465443.1_3'UTR NM_004073.2 NP_004064.2 Q9H4B4 PLK3_HUMAN polo-like kinase 3 110 Protein kinase. membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) GATCCTAAATGAGATTGAGCT 0.587000 5 113 0 0 1 0 0 COX6A1 1337 broad.mit.edu 37 12 120875952 120875952 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:120875952C>T ENST00000229379.2 + 1 60 c.23C>T c.(22-24)tCg>tTg p.S8L NM_004373.3 NP_004364.2 P12074 CX6A1_HUMAN cytochrome c oxidase subunit VIa polypeptide 1 8 respiratory electron transport chain mitochondrial respiratory chain complex IV cytochrome-c oxidase activity all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGTGTGTCCTCGGTTTCTCGG 0.637000 6 32 0 0 1 0 0 DNA2 1763 broad.mit.edu 37 10 70182518 70182518 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:70182518G>A ENST00000399180.2 - 15 2595 c.2596C>T c.(2596-2598)Cgg>Tgg p.R866W DNA2_ENST00000358410.3_Missense_Mutation_p.R780W|DNA2_ENST00000399179.2_Intron P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 780 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 ACAAATCTCCGTGAAAAAAAA 0.408000 8 22 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846771 47846771 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:47846771G>C ENST00000339488.4 - 3 1842 c.1809C>G c.(1807-1809)atC>atG p.I603M NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 603 integral to membrane hedgehog receptor activity GAGAAGCAATGATATTGCTTT 0.433000 6 53 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16577749 16577749 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:16577749C>T ENST00000375592.3 - 10 1786 c.1570G>A c.(1570-1572)Ggg>Agg p.G524R NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 524 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) ATACTTCCCCCAACTGTCCTA 0.532000 9 134 0 0 1 0 0 EGR2 1959 broad.mit.edu 37 10 64575748 64575748 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:64575748G>A ENST00000242480.3 - 1 367 c.42C>T c.(40-42)ctC>ctT p.L14L EGR2_ENST00000439032.1_Silent_p.L14L|EGR2_ENST00000411732.1_Intron|EGR2_ENST00000493899.2_Intron NM_000399.3|NM_001136177.1 NP_000390.2|NP_001129649.1 P11161 EGR2_HUMAN early growth response 2 14 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 36 Prostate(12;0.0297)|all_hematologic(501;0.228) CAAAACCACTGAGAGTTACTG 0.572000 21 369 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62291760 62291760 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:62291760C>G ENST00000378024.4 - 5 10403 c.10129G>C c.(10129-10131)Gat>Cat p.D3377H AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3377 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATGTCAATATCTGGCTTTTTA 0.383000 8 95 0 0 1 0 0 YAP1 10413 broad.mit.edu 37 11 102100657 102100657 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:102100657C>T ENST00000282441.5 + 9 1889 c.1501C>T c.(1501-1503)Ctt>Ttt p.L501F YAP1_ENST00000531439.1_Missense_Mutation_p.L485F|YAP1_ENST00000345877.2_Missense_Mutation_p.L451F|YAP1_ENST00000528834.1_3'UTR|YAP1_ENST00000537274.1_Missense_Mutation_p.L489F|RP11-864G5.3_ENST00000526310.1_RNA|YAP1_ENST00000526343.1_Missense_Mutation_p.L447F|YAP1_ENST00000524575.1_Missense_Mutation_p.L323F NM_001130145.2|NM_001282101.1 NP_001123617.1|NP_001269030.1 P46937 YAP1_HUMAN Yes-associated protein 1 501 Transactivation domain. cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1) 4 all_cancers(8;0.000575)|all_epithelial(12;0.00564) Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0189) AGAAAGCTTTCTTACATGGTT 0.438000 19 118 0 0 1 0 0 C11orf80 79703 broad.mit.edu 37 11 66571581 66571581 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:66571581C>A ENST00000360962.4 + 9 965 c.958C>A c.(958-960)Ctg>Atg p.L320M C11orf80_ENST00000532565.2_Missense_Mutation_p.L101M|C11orf80_ENST00000346672.4_Missense_Mutation_p.L166M|C11orf80_ENST00000540737.1_Missense_Mutation_p.L155M|C11orf80_ENST00000527634.1_Missense_Mutation_p.L102M|C11orf80_ENST00000525449.2_Missense_Mutation_p.L165M NM_024650.3 NP_078926.3 Q8N6T0 CK080_HUMAN chromosome 11 open reading frame 80 165 autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 GTTGGGAGAACTGATACTGAC 0.463000 41 156 1.59361e-14 1.74804e-14 1 1 0 ATP8B1 5205 broad.mit.edu 37 18 55319836 55319836 + Silent SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr18:55319836G>C ENST00000536015.1 - 25 3260 c.3141C>G c.(3139-3141)ctC>ctG p.L1047L RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|ATP8B1_ENST00000283684.4_Silent_p.L1047L|RP11-35G9.3_ENST00000592201.1_RNA NM_005603.4 NP_005594 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 1047 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) GTATGAAGAAGAGGATCATCG 0.463000 5 89 0 0 1 0 0 WDR26 80232 broad.mit.edu 37 1 224588738 224588738 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:224588738G>A ENST00000414423.2 - 9 1526 c.1333C>T c.(1333-1335)Cat>Tat p.H445Y WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.H298Y NM_001115113.2|NM_025160.6 NP_001108585.2|NP_079436.4 Q9H7D7 WDR26_HUMAN WD repeat domain 26 445 cytoplasm|nucleus biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 18 GBM - Glioblastoma multiforme(131;0.0104) CTGTCTTCATGAGACTGGCTC 0.418000 9 55 0 0 1 0 0 FSTL4 23105 broad.mit.edu 37 5 132552957 132552957 + Silent SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:132552957G>T ENST00000265342.7 - 13 1821 c.1572C>A c.(1570-1572)gtC>gtA p.V524V CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 524 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CGACCACAAGGACTCTGCTCA 0.507000 19 102 2.79863e-10 3.03852e-10 1 1 0 SRP68 6730 broad.mit.edu 37 17 74066468 74066468 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:74066468T>C ENST00000307877.2 - 2 403 c.242A>G c.(241-243)cAg>cGg p.Q81R SRP68_ENST00000355113.5_Intron|SRP68_ENST00000539137.1_Missense_Mutation_p.Q81R NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 81 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 CCTGTACCTCTGAAAATCTCC 0.373000 11 67 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40033522 40033522 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr20:40033522C>A ENST00000373233.3 - 37 8036 c.7859G>T c.(7858-7860)gGa>gTa p.G2620V CHD6_ENST00000480022.1_5'UTR NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2620 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GTAAATGAGTCCAGGAGATAC 0.512000 13 56 0.00010058 0.000103699 1 1 0 FIG4 9896 broad.mit.edu 37 6 110106228 110106228 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:110106228G>A ENST00000230124.3 + 17 2069 c.1945G>A c.(1945-1947)Gaa>Aaa p.E649K FIG4_ENST00000441478.2_Missense_Mutation_p.E372K NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 649 cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) GCCCTATGATGAAGGTAGGTA 0.289000 18 183 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216245603 216245603 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:216245603A>G ENST00000354785.4 - 33 5734 c.5365T>C c.(5365-5367)Tac>Cac p.Y1789H FN1_ENST00000490833.1_5'UTR|FN1_ENST00000323926.6_Missense_Mutation_p.Y1789H|FN1_ENST00000336916.4_Missense_Mutation_p.Y1698H|FN1_ENST00000359671.1_Missense_Mutation_p.Y1698H|FN1_ENST00000432072.2_Intron|FN1_ENST00000346544.3_Missense_Mutation_p.Y1698H|FN1_ENST00000357009.2_Missense_Mutation_p.Y1698H|FN1_ENST00000421182.1_Intron|FN1_ENST00000345488.5_Missense_Mutation_p.Y1698H|FN1_ENST00000357867.4_Intron|FN1_ENST00000443816.1_Intron|FN1_ENST00000446046.1_Missense_Mutation_p.Y1698H|FN1_ENST00000356005.4_Intron P02751 FINC_HUMAN fibronectin 1 1788 Fibronectin type-III 13.|Heparin-binding 2. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGACTGTGTACTCAGAACCC 0.542000 22 127 0 0 1 0 0 DCAF7 10238 broad.mit.edu 37 17 61662585 61662585 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:61662585G>C ENST00000310827.4 + 7 968 c.751G>C c.(751-753)Gat>Cat p.D251H DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Missense_Mutation_p.D51H NM_005828.3 NP_005819.3 P61962 DCAF7_HUMAN DDB1 and CUL4 associated factor 7 251 multicellular organismal development CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus protein binding endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 18 GGTGATTCTAGATGTCCGGGT 0.443000 7 139 0 0 1 0 0 NFIL3 4783 broad.mit.edu 37 9 94172990 94172990 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:94172990G>A ENST00000297689.3 - 2 421 c.27C>T c.(25-27)gtC>gtT p.V9V NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 9 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 GCTCCTTTTTGACGGTCTGCA 0.423000 5 105 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1807559 1807559 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:1807559C>T ENST00000340107.4 + 13 1990 c.1734C>T c.(1732-1734)gaC>gaT p.D578D FGFR3_ENST00000481110.2_Silent_p.D577D|FGFR3_ENST00000412135.2_Silent_p.D464D|FGFR3_ENST00000260795.2_Silent_p.D576D|FGFR3_ENST00000352904.1_Silent_p.D464D|FGFR3_ENST00000440486.2_Silent_p.D576D NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 576 Protein kinase. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) cgggccTGGACTACTCCTTCG 0.682000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 35 159 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48687965 48687965 + Silent SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:48687965G>T ENST00000544264.1 - 16 6700 c.6420C>A c.(6418-6420)ccC>ccA p.P2140P CELSR3_ENST00000164024.4_Silent_p.P2140P Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 2140 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACTTTGTCTGGGGCCACCACA 0.617000 5 51 5.9392e-07 6.25674e-07 1 1 0 AFF4 27125 broad.mit.edu 37 5 132228738 132228738 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:132228738G>C ENST00000265343.5 - 12 2759 c.2380C>G c.(2380-2382)Cca>Gca p.P794A AFF4_ENST00000378595.3_Missense_Mutation_p.P794A NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 794 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTGCTGGATGGCTTATGGCCT 0.423000 65 402 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102904529 102904529 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:102904529A>G ENST00000359520.7 + 10 2791 c.2565A>G c.(2563-2565)gcA>gcG p.A855A TECPR2_ENST00000558678.1_Silent_p.A855A NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 855 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 AGCAGGTGGCAGTCTCGCCCT 0.672000 OREG0022547 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 54 0 0 1 0 0 SLC2A6 11182 broad.mit.edu 37 9 136337170 136337170 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:136337170G>A ENST00000371899.4 - 10 1574 c.1497C>T c.(1495-1497)cgC>cgT p.R499R SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Silent_p.R437R NM_017585.3 NP_060055.2 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose transporter), member 6 499 integral to membrane|plasma membrane D-glucose transmembrane transporter activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) TTCTCCCCGTGCGGAAGAAGG 0.627000 13 63 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66440574 66440574 + Silent SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:66440574C>A ENST00000404260.3 + 22 3125 c.2817C>A c.(2815-2817)acC>acA p.T939T MAST4_ENST00000403666.1_Silent_p.T747T|MAST4_ENST00000261569.7_Silent_p.T742T|MAST4_ENST00000405643.1_Silent_p.T757T|MAST4_ENST00000403625.2_Silent_p.T936T O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 939 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CCAAAAGCACCACCTTGCCAT 0.413000 4 26 0.00909568 0.00923455 1 1 0 ZC3H14 79882 broad.mit.edu 37 14 89044449 89044449 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:89044449A>G ENST00000251038.5 + 9 1469 c.1244A>G c.(1243-1245)gAg>gGg p.E415G ZC3H14_ENST00000336693.4_Missense_Mutation_p.E381G|ZC3H14_ENST00000556945.1_Missense_Mutation_p.E415G|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000557607.1_Missense_Mutation_p.E260G|ZC3H14_ENST00000359301.3_Missense_Mutation_p.E381G|ZC3H14_ENST00000302216.8_Missense_Mutation_p.E415G|ZC3H14_ENST00000555755.1_Missense_Mutation_p.E415G|ZC3H14_ENST00000393514.5_Missense_Mutation_p.E415G NM_001160103.1|NM_001160104.1|NM_024824.4 NP_001153575.1|NP_001153576.1|NP_079100.2 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 415 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 ATTAAAGAAGAGGAAACAAAA 0.388000 6 107 0 0 1 0 0 NDOR1 27158 broad.mit.edu 37 9 140100321 140100321 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:140100321G>T ENST00000371521.4 + 1 175 c.92G>T c.(91-93)cGg>cTg p.R31L NDOR1_ENST00000427047.2_Missense_Mutation_p.R31L|NDOR1_ENST00000458322.2_Missense_Mutation_p.R31L|NDOR1_ENST00000344894.5_Missense_Mutation_p.R31L NM_001144026.1 NP_001137498.1 Q9UHB4 NDOR1_HUMAN NADPH dependent diflavin oxidoreductase 1 31 Flavodoxin-like. cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GCCCGGCGCCGGCGGCTTGGC 0.736000 3 34 0.014758 0.014898 1 1 0 TTLL1 25809 broad.mit.edu 37 22 43459894 43459894 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr22:43459894C>T ENST00000331018.7 - 7 912 c.672G>A c.(670-672)gtG>gtA p.V224V TTLL1_ENST00000266254.7_Silent_p.V224V O95922 TTLL1_HUMAN tubulin tyrosine ligase-like family, member 1 224 TTL. protein polyglutamylation cytoplasm|microtubule ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1) 23 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) GGGTGTATTTCACTGTGCAGA 0.458000 6 159 0 0 1 0 0 CCNL1 57018 broad.mit.edu 37 3 156866286 156866286 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:156866286T>A ENST00000295926.3 - 11 1443 c.1325A>T c.(1324-1326)aAt>aTt p.N442I CCNL1_ENST00000461804.1_Intron NM_020307.2 NP_064703.1 Q9UK58 CCNL1_HUMAN cyclin L1 442 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308) AGAACCATGATTATGATGTCT 0.423000 21 124 0 0 1 0 0 OR13G1 441933 broad.mit.edu 37 1 247835472 247835472 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:247835472T>A ENST00000359688.2 - 1 893 c.872A>T c.(871-873)aAt>aTt p.N291I RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CATCTCCCTATTCTGGAAGCT 0.448000 6 152 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108122629 108122629 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:108122629G>T ENST00000278616.4 + 11 2058 c.1673G>T c.(1672-1674)gGa>gTa p.G558V ATM_ENST00000452508.2_Missense_Mutation_p.G558V NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 558 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GTAAAAATGGGAATAGAGCAA 0.353000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 16 87 1.45105e-14 1.59826e-14 1 1 0 TCHHL1 126637 broad.mit.edu 37 1 152060608 152060608 + Silent SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:152060608G>C ENST00000368806.1 - 2 76 c.12C>G c.(10-12)ctC>ctG p.L4L NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 4 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CATTTCTCAGGAGCTGAGGCA 0.458000 7 105 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48725087 48725087 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:48725087T>C ENST00000316623.5 - 55 7170 c.6715A>G c.(6715-6717)Aga>Gga p.R2239G NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 2239 EGF-like 38; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CGGTCTTCTCTGAGCACATAT 0.468000 30 171 0 0 1 0 0 KRTAP13-2 337959 broad.mit.edu 37 21 31744204 31744204 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr21:31744204G>T ENST00000399889.2 - 1 353 c.328C>A c.(328-330)Ctg>Atg p.L110M NM_181621.3 NP_853652.1 Q52LG2 KR132_HUMAN keratin associated protein 13-2 110 intermediate filament endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 21 CCATAGCCCAGGGAGCGGCAG 0.597000 7 60 1.12685e-05 1.17777e-05 1 1 0 ADAMTS5 11096 broad.mit.edu 37 21 28296403 28296403 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr21:28296403G>A ENST00000284987.5 - 8 2883 c.2762C>T c.(2761-2763)gCg>gTg p.A921V AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 921 TSP type-1 2. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 TTGCTTAAACGCAGAAGGCCT 0.483000 10 68 0 0 1 0 0 TMEM72 643236 broad.mit.edu 37 10 45430459 45430459 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:45430459C>T ENST00000544540.1 + 4 835 c.351C>T c.(349-351)ctC>ctT p.L117L TMEM72-AS1_ENST00000450287.2_RNA A0PK05 TMM72_HUMAN transmembrane protein 72 235 integral to membrane breast(2)|kidney(1)|large_intestine(2)|lung(10) 15 TCCCCTCCCTCGCCGAAGGTC 0.602000 9 176 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107706844 107706844 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:107706844C>A ENST00000388781.3 - 20 2731 c.2648G>T c.(2647-2649)gGa>gTa p.G883V LAMB4_ENST00000205386.4_Missense_Mutation_p.G883V|LAMB4_ENST00000388780.3_Missense_Mutation_p.G883V NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 883 Laminin EGF-like 8. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TGTAAAGCCTCCACAATTGAA 0.428000 7 49 1.12685e-05 1.17777e-05 1 1 0 SZT2 23334 broad.mit.edu 37 1 43882281 43882281 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:43882281G>C ENST00000562955.1 + 7 848 c.848G>C c.(847-849)cGc>cCc p.R283P NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 283 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 AACCAGCTTCGCAGTGGCACT 0.493000 3 62 0 0 1 0 0 SEC31A 22872 broad.mit.edu 37 4 83788412 83788412 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:83788412G>C ENST00000432794.1 - 9 1103 c.940C>G c.(940-942)Cga>Gga p.R314G SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000355196.2_Missense_Mutation_p.R314G|SEC31A_ENST00000448323.1_Missense_Mutation_p.R314G|SEC31A_ENST00000513858.1_Missense_Mutation_p.R314G|SEC31A_ENST00000264405.5_Missense_Mutation_p.R86G|SEC31A_ENST00000500777.2_Missense_Mutation_p.R314G|SEC31A_ENST00000311785.7_Missense_Mutation_p.R314G|SEC31A_ENST00000508502.1_Missense_Mutation_p.R314G|SEC31A_ENST00000326950.5_Missense_Mutation_p.R314G|SEC31A_ENST00000508479.1_Missense_Mutation_p.R314G|SEC31A_ENST00000505472.1_Missense_Mutation_p.R314G|SEC31A_ENST00000509142.1_Missense_Mutation_p.R314G|SEC31A_ENST00000505984.1_Missense_Mutation_p.R314G|SEC31A_ENST00000348405.4_Missense_Mutation_p.R314G|SEC31A_ENST00000395310.2_Missense_Mutation_p.R314G|SEC31A_ENST00000443462.2_Missense_Mutation_p.R309G O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 314 Interaction with SEC13. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) GCAGGATTTCGGGGACACCAC 0.418000 4 83 0 0 1 0 0 NEXN 91624 broad.mit.edu 37 1 78383288 78383288 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:78383288A>G ENST00000334785.7 + 3 249 c.65A>G c.(64-66)tAt>tGt p.Y22C NEXN_ENST00000457030.1_Missense_Mutation_p.Y22C|NEXN_ENST00000330010.8_Intron|NEXN_ENST00000294624.8_Missense_Mutation_p.Y22C NM_144573.3 NP_653174.3 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 22 regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Colorectal(170;0.114) CCAAAAACCTATGTACCAAAA 0.348000 10 51 0 0 1 0 0 CREB5 9586 broad.mit.edu 37 7 28858795 28858795 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:28858795C>A ENST00000357727.2 + 11 1816 c.1426C>A c.(1426-1428)Cat>Aat p.H476N CREB5_ENST00000396298.2_Missense_Mutation_p.H337N|CREB5_ENST00000409603.1_Missense_Mutation_p.H443N|CREB5_ENST00000396300.2_Missense_Mutation_p.H469N|CREB5_ENST00000396299.2_Missense_Mutation_p.H443N NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 476 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 AGTCATCCAGCATAATACCAT 0.502000 60 247 9.64103e-21 1.08207e-20 1 1 0 ALMS1 7840 broad.mit.edu 37 2 73651764 73651764 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:73651764T>A ENST00000264448.6 + 5 1082 c.971T>A c.(970-972)aTt>aAt p.I324N ALMS1_ENST00000409009.1_Missense_Mutation_p.I282N|ALMS1_ENST00000377715.1_Missense_Mutation_p.I324N NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 324 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GAAGAGACTATTTCGTCTGTT 0.418000 9 43 0 0 1 0 0 CATSPERG 57828 broad.mit.edu 37 19 38861352 38861352 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:38861352A>T ENST00000409235.3 + 29 3515 c.3400A>T c.(3400-3402)Atg>Ttg p.M1134L CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.M1094L NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 1134 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 ACATTCCAGGATGGGCTCCAT 0.552000 15 124 0 0 1 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73954265 73954265 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:73954265G>C ENST00000476977.1 + 14 3276 c.1585G>C c.(1585-1587)Gag>Cag p.E529Q GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.E529Q|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.E529Q|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.E561Q Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 529 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CCTGCCATCGGAGGATTCTGG 0.552000 3 132 0 0 1 0 0 ZNF726 730087 broad.mit.edu 37 19 24102183 24102183 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:24102183G>A ENST00000594466.1 + 2 117 c.12G>A c.(10-12)ttG>ttA p.L4L ZNF726_ENST00000575986.1_Silent_p.L4L|ZNF726_ENST00000334589.5_Silent_p.L4L|CTB-92J24.3_ENST00000596326.1_RNA|ZNF726_ENST00000531821.2_Silent_p.L4L|ZNF726_ENST00000525354.2_Silent_p.L4L|ZNF726_ENST00000322487.7_Silent_p.L4L NM_001244038.1 NP_001230967.1 E9PLI7 E9PLI7_HUMAN zinc finger protein 726 4 regulation of transcription, DNA-dependent intracellular nucleic acid binding AGGGACTGTTGACATTTAGGG 0.388000 21 165 0 0 1 0 0 GC 2638 broad.mit.edu 37 4 72622632 72622632 + Splice_Site SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:72622632C>T ENST00000273951.8 - 8 1175 c.e8-1 GC_ENST00000504199.1_Splice_Site|GC_ENST00000503472.1_Splice_Site|GC_ENST00000513476.1_Splice_Site NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) GTTCAGGCAGCTACAAAACGA 0.338000 54 84 0 0 1 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68040602 68040602 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:68040602C>G ENST00000329153.5 + 13 2056 c.1924C>G c.(1924-1926)Cag>Gag p.Q642E NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 642 PH 1. cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) ACAGACGTTTCAGGTGAGCAC 0.488000 7 93 0 0 1 0 0 DGCR8 54487 broad.mit.edu 37 22 20074169 20074169 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr22:20074169A>G ENST00000351989.3 + 2 1112 c.683A>G c.(682-684)gAc>gGc p.D228G DGCR8_ENST00000407755.1_Missense_Mutation_p.D228G|DGCR8_ENST00000383024.2_Missense_Mutation_p.D228G NM_022720.6 NP_073557.3 Q8WYQ5 DGCR8_HUMAN DGCR8 microprocessor complex subunit 228 Necessary for interaction with NCL.|Necessary for nuclear localization and retention. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) GTTCAGAGAGACAGAGTGGAT 0.478000 39 261 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71651790 71651790 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:71651790A>G ENST00000409544.1 + 23 5165 c.4535A>G c.(4534-4536)gAg>gGg p.E1512G ZNF638_ENST00000409407.1_Missense_Mutation_p.E452G|ZNF638_ENST00000355812.3_Missense_Mutation_p.S1104G|ZNF638_ENST00000264447.4_Missense_Mutation_p.E1512G NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1512 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 ACTTTGGCTGAGCAAAACACT 0.299000 9 57 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76397778 76397778 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:76397778A>G ENST00000357063.3 + 16 4134 c.2874A>G c.(2872-2874)gcA>gcG p.A958A LMO7_ENST00000341547.4_Silent_p.A624A|LMO7_ENST00000526202.1_Silent_p.A523A|LMO7_ENST00000377534.3_Silent_p.A958A|LMO7_ENST00000465261.2_Silent_p.A673A|LMO7_ENST00000321797.8_Silent_p.A673A Q8WWI1 LMO7_HUMAN LIM domain 7 958 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) GCACCCCTGCACCAAGCCCGG 0.453000 23 87 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50957813 50957813 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:50957813T>A ENST00000374103.4 - 8 1031 c.946A>T c.(946-948)Atc>Ttc p.I316F OGDHL_ENST00000419399.1_Missense_Mutation_p.I259F|OGDHL_ENST00000432695.1_Missense_Mutation_p.I107F NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 316 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 TGGCAGAAGATCTGCTCCAGG 0.662000 4 26 0 0 1 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88953752 88953752 + Silent SNP T T G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:88953752T>G ENST00000375961.2 - 9 1535 c.1321A>C c.(1321-1323)Agg>Cgg p.R441R ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000375963.3_Silent_p.R441R|ZCCHC6_ENST00000375948.1_Silent_p.R79R Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 441 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 GCCCAGTACCTAAATGCAATC 0.368000 4 108 0 0 1 0 0 MAPK7 5598 broad.mit.edu 37 17 19284405 19284405 + Silent SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:19284405C>A ENST00000308406.5 + 4 1269 c.883C>A c.(883-885)Cgg>Agg p.R295R MAPK7_ENST00000395602.4_Silent_p.R295R|MAPK7_ENST00000299612.7_Silent_p.R156R|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395604.3_Silent_p.R295R NM_139033.2 NP_620602.2 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 295 Necessary for oligomerization (By similarity).|Protein kinase. cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 30 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) TGAGAGGGTGCGGGCCTATAT 0.607000 8 68 4.68919e-08 4.97934e-08 1 1 0 RAB36 9609 broad.mit.edu 37 22 23500179 23500179 + Splice_Site SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr22:23500179T>A ENST00000263116.2 + 7 633 c.593T>A c.(592-594)gTg>gAg p.V198E RAB36_ENST00000341989.4_Splice_Site_p.V176E NM_004914.2 NP_004905.2 O95755 RAB36_HUMAN RAB36, member RAS oncogene family 198 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.155) GGGTGTCTAGTGATCATCACG 0.622000 28 249 0 0 1 0 0 RCBTB2 1102 broad.mit.edu 37 13 49064303 49064303 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:49064303C>T ENST00000344532.3 - 15 2023 c.1600G>A c.(1600-1602)Gat>Aat p.D534N RCBTB2_ENST00000544492.1_Missense_Mutation_p.D260N|RCBTB2_ENST00000430805.2_Missense_Mutation_p.D539N NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 534 Ran guanyl-nucleotide exchange factor activity breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) TTCAGGAGATCATGGTCCATT 0.398000 7 106 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72667281 72667281 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:72667281C>G ENST00000261180.4 + 1 819 c.723C>G c.(721-723)atC>atG p.I241M TRHDE-AS1_ENST00000426250.3_RNA NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 241 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 ACGCGCTCATCGAGAATGAGC 0.587000 20 101 0 0 1 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85459088 85459088 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:85459088C>T ENST00000393217.2 + 9 2501 c.2440C>T c.(2440-2442)Ctg>Ttg p.L814L NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 814 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TCTCTCCACACTGGCAGAGTG 0.383000 22 114 0 0 1 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228822 57228822 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr8:57228822C>T ENST00000396721.2 - 2 215 c.85G>A c.(85-87)Gcc>Acc p.A29T SDR16C5_ENST00000303749.3_Missense_Mutation_p.A29T|SDR16C5_ENST00000522671.1_Missense_Mutation_p.A29T Q8N3Y7 RDHE2_HUMAN short chain dehydrogenase/reductase family 16C, member 5 29 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 GGGAGTAAGGCAAAAATCATA 0.458000 19 65 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21870572 21870572 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:21870572C>G ENST00000399982.2 - 18 3869 c.3805G>C c.(3805-3807)Gat>Cat p.D1269H CHD8_ENST00000557364.1_Missense_Mutation_p.D1269H|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.D990H NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1269 Helicase C-terminal. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CTGGCCTTATCAAACATCTCT 0.483000 6 116 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37311474 37311474 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:37311474A>T ENST00000310758.4 - 5 853 c.206T>A c.(205-207)aTa>aAa p.I69K ELMO1_ENST00000442504.1_Missense_Mutation_p.I69K|ELMO1_ENST00000448602.1_Missense_Mutation_p.I69K NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 69 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GCCATTTTTTATCTCATTGCG 0.353000 6 107 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51308411 51308411 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:51308411G>T ENST00000266037.9 + 24 2544 c.2521G>T c.(2521-2523)Gtg>Ttg p.V841L NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 841 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TGCCAGGACAGTGGATAGCCG 0.547000 22 196 6.12954e-19 6.83629e-19 1 1 0 IL1B 3553 broad.mit.edu 37 2 113590327 113590327 + Silent SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:113590327G>C ENST00000263341.2 - 5 588 c.378C>G c.(376-378)ctC>ctG p.L126L IL1B_ENST00000491056.1_5'UTR NM_000576.2 NP_000567.1 P01584 IL1B_HUMAN interleukin 1, beta 126 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8) 12 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) GTGAGTCCCGGAGCGTGCAGT 0.478000 14 157 0 0 1 0 0 MYD88 4615 broad.mit.edu 37 3 38180222 38180222 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:38180222G>A ENST00000417037.2 + 1 254 c.70G>A c.(70-72)Gcg>Acg p.A24T MYD88_ENST00000443433.2_Missense_Mutation_p.A24T|MYD88_ENST00000396334.3_Missense_Mutation_p.A24T|MYD88_ENST00000424893.1_Missense_Mutation_p.A24T|MYD88_ENST00000495303.1_Missense_Mutation_p.A24T NM_001172567.1 NP_001166038.1 Q99836 MYD88_HUMAN myeloid differentiation primary response 88 11 3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|intrinsic to membrane|plasma membrane death receptor binding|TIR domain binding|transmembrane receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 237 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CGCGGGGTCTGCGGCCCCGGT 0.687000 Mis ABC-DLBCL 9 43 0 0 1 0 0 PRKCD 5580 broad.mit.edu 37 3 53217515 53217515 + Silent SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:53217515T>C ENST00000394729.2 + 8 1033 c.705T>C c.(703-705)gtT>gtC p.V235V PRKCD_ENST00000330452.3_Silent_p.V235V NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 235 activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GCTTCAAGGTTCACAACTACA 0.592000 19 121 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651605 84651605 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:84651605G>A ENST00000286744.5 + 21 3449 c.3225G>A c.(3223-3225)ttG>ttA p.L1075L ADAMTSL3_ENST00000567476.1_Silent_p.L1075L NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1075 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) CCTGGGAGTTGAAGAATAAGC 0.443000 6 72 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60904247 60904247 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr20:60904247C>T ENST00000252999.3 - 33 4248 c.4182G>A c.(4180-4182)ctG>ctA p.L1394L NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1394 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGATTTATCCAGGGGCTCCT 0.637000 21 120 0 0 1 0 0 OSBPL7 114881 broad.mit.edu 37 17 45891068 45891068 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:45891068G>A ENST00000007414.3 - 15 1675 c.1484C>T c.(1483-1485)tCa>tTa p.S495L OSBPL7_ENST00000392507.3_Missense_Mutation_p.S495L NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 495 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 CACAGGCATTGACACCTTGGA 0.662000 7 83 0 0 1 0 0 MTERFD2 130916 broad.mit.edu 37 2 242035577 242035577 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:242035577C>G ENST00000391980.2 - 4 1040 c.982G>C c.(982-984)Gag>Cag p.E328Q MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Missense_Mutation_p.E140Q NM_182501.3 NP_872307.2 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 328 endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3) 20 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) GTGCTGCTCTCAGACTCCTCC 0.483000 6 55 0 0 1 0 0 TMUB1 83590 broad.mit.edu 37 7 150779465 150779465 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:150779465C>A ENST00000392818.3 - 2 543 c.186G>T c.(184-186)atG>atT p.M62I TMUB1_ENST00000462940.1_Missense_Mutation_p.M62I|TMUB1_ENST00000476627.1_Missense_Mutation_p.M62I|TMUB1_ENST00000482202.1_Missense_Mutation_p.M62I|TMUB1_ENST00000297533.4_Missense_Mutation_p.M62I NM_031434.3 NP_113622.1 Q9BVT8 TMUB1_HUMAN transmembrane and ubiquitin-like domain containing 1 62 cytoplasm|integral to membrane|nucleus endometrium(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTCCCCTCTCATGCTGTCGG 0.687000 20 134 3.7963e-18 4.21635e-18 1 1 0 ZNF35 7584 broad.mit.edu 37 3 44700861 44700861 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:44700861T>C ENST00000396056.2 + 4 1241 c.1006T>C c.(1006-1008)Tgt>Cgt p.C336R RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.C176R|ZNF35_ENST00000296092.3_3'UTR NM_003420.3 NP_003411.3 P13682 ZNF35_HUMAN zinc finger protein 35 336 cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) ATGCTATGAATGTAATGAATG 0.428000 6 60 0 0 1 0 0 CASC5 57082 broad.mit.edu 37 15 40917631 40917631 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:40917631C>T ENST00000346991.5 + 11 5637 c.5247C>T c.(5245-5247)atC>atT p.I1749I CASC5_ENST00000399668.2_Silent_p.I1723I Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 1749 acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) CTGATGAGATCAATTCTTCAG 0.343000 15 114 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41553402 41553402 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr22:41553402G>A ENST00000263253.7 + 18 4710 c.3491G>A c.(3490-3492)tGt>tAt p.C1164Y NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1164 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 GGATACTGTTGTGGCAGAAAG 0.393000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 30 121 0 0 1 0 0 FMO5 2330 broad.mit.edu 37 1 146658516 146658516 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:146658516G>A ENST00000254090.4 - 9 1953 c.1565C>T c.(1564-1566)gCt>gTt p.A522V FMO5_ENST00000369272.3_3'UTR|FMO5_ENST00000441068.2_Intron|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA NM_001461.2 NP_001452.2 P49326 FMO5_HUMAN flavin containing monooxygenase 5 522 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 25 all_hematologic(923;0.0487) GAAGGCAAGAGCTAGCATAAA 0.403000 9 76 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18289692 18289692 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:18289692C>T ENST00000377369.2 + 11 1970 c.1697C>T c.(1696-1698)tCa>tTa p.S566L SLC39A12_ENST00000377374.4_Missense_Mutation_p.S529L|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S432L|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S565L NM_001145195.1|NM_001282733.1|NM_001282734.1 NP_001138667.1|NP_001269662.1|NP_001269663.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 566 Poly-Ser. zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 TTCTCATCATCATCCGAGTCA 0.443000 5 75 0 0 1 0 0 FDXR 2232 broad.mit.edu 37 17 72860379 72860379 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:72860379G>A ENST00000455107.2 - 10 1177 c.761C>T c.(760-762)tCg>tTg p.S254L FDXR_ENST00000420580.2_Missense_Mutation_p.S258L|FDXR_ENST00000581530.1_Missense_Mutation_p.S304L|FDXR_ENST00000413947.2_Missense_Mutation_p.S329L|FDXR_ENST00000293195.5_Missense_Mutation_p.S298L|FDXR_ENST00000583917.1_Missense_Mutation_p.S270L|FDXR_ENST00000582944.1_Missense_Mutation_p.S290L|FDXR_ENST00000544854.1_Missense_Mutation_p.S246L|FDXR_ENST00000442102.2_Missense_Mutation_p.S341L P22570 ADRO_HUMAN ferredoxin reductase 298 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) ACGGGAGGCCGATGCCTGGCG 0.692000 10 46 0 0 1 0 0 TBR1 10716 broad.mit.edu 37 2 162273127 162273127 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:162273127C>T ENST00000389554.3 + 1 523 c.206C>T c.(205-207)cCt>cTt p.P69L NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 69 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 GACAATTTTCCTGACTCCAAG 0.488000 11 72 0 0 1 0 0 DGKG 1608 broad.mit.edu 37 3 185970927 185970927 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:185970927G>A ENST00000265022.3 - 18 2094 c.1555C>T c.(1555-1557)Ctt>Ttt p.L519F DGKG_ENST00000382164.4_Missense_Mutation_p.L480F|DGKG_ENST00000344484.4_Missense_Mutation_p.L494F|DGKG_ENST00000544847.1_Missense_Mutation_p.L460F NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 519 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) CCTGTTCCAAGAGGCAGGACA 0.512000 15 126 0 0 1 0 0 TMEM5 10329 broad.mit.edu 37 12 64195998 64195998 + Missense_Mutation SNP A A C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:64195998A>C ENST00000261234.6 + 4 714 c.556A>C c.(556-558)Aat>Cat p.N186H TMEM5_ENST00000537373.1_5'UTR NM_014254.1 NP_055069.1 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 186 integral to plasma membrane breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) TTATGCACAAAATTTAGTGCA 0.363000 4 62 0 0 1 0 0 FAM208A 23272 broad.mit.edu 37 3 56674101 56674101 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:56674101G>A ENST00000431842.2 - 9 2413 c.1489C>T c.(1489-1491)Ccc>Tcc p.P497S FAM208A_ENST00000493960.2_Missense_Mutation_p.P893S|FAM208A_ENST00000355628.5_Missense_Mutation_p.P893S NM_015224.3 NP_056039.2 Q9UK61 CC063_HUMAN family with sequence similarity 208, member A 893 NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1) 32 TGTTCAATGGGAACACTGGGA 0.323000 4 41 0 0 1 0 0 IRF5 3663 broad.mit.edu 37 7 128586051 128586051 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:128586051G>C ENST00000402030.2 + 3 420 c.348G>C c.(346-348)aaG>aaC p.K116N IRF5_ENST00000249375.4_Missense_Mutation_p.K116N|IRF5_ENST00000477535.1_Missense_Mutation_p.K116N|IRF5_ENST00000357234.5_Missense_Mutation_p.K116N|IRF5_ENST00000473745.1_Missense_Mutation_p.K116N NM_001098629.1|NM_001098630.1 NP_001092099.1|NP_001092100.1 Q13568 IRF5_HUMAN interferon regulatory factor 5 116 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1) 15 AGCCCTACAAGATCTACGAGG 0.637000 6 71 0 0 1 0 0 CD1B 910 broad.mit.edu 37 1 158301205 158301205 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:158301205C>T ENST00000368168.3 - 1 116 c.9G>A c.(7-9)ctG>ctA p.L3L NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 3 antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) GAAATGGCAGCAGCAGCATTT 0.473000 3 37 0 0 1 0 0 RAPGEFL1 51195 broad.mit.edu 37 17 38346912 38346912 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:38346912C>T ENST00000436615.3 + 8 1105 c.615C>T c.(613-615)atC>atT p.I205I RAPGEFL1_ENST00000544503.1_Silent_p.I254I|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000456989.2_Silent_p.I260I|RAPGEFL1_ENST00000264644.6_Silent_p.I205I NM_016339.3 NP_057423.1 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor (GEF)-like 1 411 G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 CCGAGGAGATCCAGGTCTCCC 0.637000 40 146 0 0 1 0 0 USP44 84101 broad.mit.edu 37 12 95926706 95926706 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:95926706C>T ENST00000258499.3 - 2 1615 c.1327G>A c.(1327-1329)Ggt>Agt p.G443S USP44_ENST00000393091.2_Missense_Mutation_p.G443S|USP44_ENST00000537435.2_Missense_Mutation_p.G443S|USP44_ENST00000552440.1_Missense_Mutation_p.G443S NM_001278393.1|NM_032147.2 NP_001265322.1|NP_115523.2 Q9H0E7 UBP44_HUMAN ubiquitin specific peptidase 44 443 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 AAACTGGTACCAGTTGTCTCT 0.388000 10 54 0 0 1 0 0 MIB1 57534 broad.mit.edu 37 18 19321721 19321721 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr18:19321721C>T ENST00000261537.6 + 1 441 c.177C>T c.(175-177)aaC>aaT p.N59N MIB1_ENST00000578646.1_Intron NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 59 MIB/HERC2 1. Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) CAGCTGCCAACTACCGCTGCT 0.721000 6 35 0 0 1 0 0 PRSS12 8492 broad.mit.edu 37 4 119256626 119256626 + Splice_Site SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:119256626A>G ENST00000296498.3 - 3 1103 c.e3+1 NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 TCTTTTTTTTACCATGGGAAA 0.363000 4 75 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45867571 45867571 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:45867571G>T ENST00000391945.4 - 9 814 c.737C>A c.(736-738)tCc>tAc p.S246Y ERCC2_ENST00000391940.4_Missense_Mutation_p.S222Y|ERCC2_ENST00000391944.3_Missense_Mutation_p.S168Y|ERCC2_ENST00000221481.6_Missense_Mutation_p.P127T|ERCC2_ENST00000485403.2_Missense_Mutation_p.S222Y NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 246 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) GACGCTCATGGAGTCGATGCA 0.682000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 8 76 3.09899e-07 3.27115e-07 1 1 0 CDK14 5218 broad.mit.edu 37 7 90528655 90528655 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:90528655C>T ENST00000406263.1 + 6 993 c.551C>T c.(550-552)cCa>cTa p.P184L CDK14_ENST00000436577.2_Missense_Mutation_p.P101L|CDK14_ENST00000265741.3_Missense_Mutation_p.P212L|CDK14_ENST00000380050.3_Missense_Mutation_p.P230L O94921 CDK14_HUMAN cyclin-dependent kinase 14 230 Protein kinase. cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4) 32 GGGCTGCATCCAGATAATGTG 0.363000 12 50 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129150054 129150054 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:129150054G>T ENST00000540052.1 + 3 3350 c.3306G>T c.(3304-3306)aaG>aaT p.K1102N BCORL1_ENST00000303743.5_Missense_Mutation_p.K1102N|BCORL1_ENST00000359304.2_Missense_Mutation_p.K1102N|BCORL1_ENST00000218147.7_Missense_Mutation_p.K1102N NM_021946.4 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1102 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 TTGCTTGCAAGAACAAGTGGC 0.577000 21 58 7.76418e-22 8.73266e-22 1 1 0 DDX58 23586 broad.mit.edu 37 9 32466325 32466325 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:32466325C>T ENST00000379882.1 - 15 2322 c.2165G>A c.(2164-2166)cGc>cAc p.R722H DDX58_ENST00000379883.2_Missense_Mutation_p.R767H|DDX58_ENST00000542096.1_Missense_Mutation_p.R696H|DDX58_ENST00000379868.1_Missense_Mutation_p.R564H O95786 DDX58_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 767 Helicase C-terminal. detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) TGTCTGAAGGCGTAAAATAGA 0.373000 5 187 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86702233 86702233 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:86702233C>A ENST00000441037.2 + 4 421 c.326C>A c.(325-327)aCc>aAc p.T109N AGBL1_ENST00000421325.2_Missense_Mutation_p.T109N NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 109 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 ACTCCTTACACCCGAAAGCGC 0.438000 18 117 5.61819e-17 6.21388e-17 1 1 0 PGBD1 84547 broad.mit.edu 37 6 28269301 28269301 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:28269301A>G ENST00000405948.2 + 7 2090 c.1670A>G c.(1669-1671)cAa>cGa p.Q557R PGBD1_ENST00000259883.3_Missense_Mutation_p.Q557R NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 557 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 GATAGTGACCAATTCCTGAAT 0.363000 14 116 0 0 1 0 0 WDR6 11180 broad.mit.edu 37 3 49050370 49050370 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:49050370C>T ENST00000395474.3 + 2 1773 c.1493C>T c.(1492-1494)tCa>tTa p.S498L WDR6_ENST00000448293.1_Missense_Mutation_p.S417L|WDR6_ENST00000608424.1_Missense_Mutation_p.S468L|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_Intron NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 468 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) CTAGAGATCTCAGCCGCACCC 0.607000 4 59 0 0 1 0 0 TMEM63A 9725 broad.mit.edu 37 1 226053628 226053628 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:226053628C>T ENST00000366835.3 - 10 985 c.715G>A c.(715-717)Gcc>Acc p.A239T TMEM63A_ENST00000537914.1_5'UTR|TMEM63A_ENST00000474478.1_5'UTR NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 239 integral to membrane|lysosomal membrane nucleotide binding breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) TCCTTCCTGGCATCTCTGGGG 0.627000 14 36 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36214059 36214059 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:36214059G>A ENST00000420124.1 + 6 2885 c.2885G>A c.(2884-2886)cGc>cAc p.R962H KMT2B_ENST00000222270.7_Missense_Mutation_p.R962H|KMT2B_ENST00000607650.1_RNA lysine (K)-specific methyltransferase 2B AAGAAGATGCGCATGGCTCGA 0.637000 7 69 0 0 1 0 0 ANLN 54443 broad.mit.edu 37 7 36445999 36445999 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:36445999G>T ENST00000265748.2 + 4 918 c.697G>T c.(697-699)Gct>Tct p.A233S ANLN_ENST00000396068.2_Missense_Mutation_p.A233S NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 233 Interaction with F-actin. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 GCCTGGTACCGCTTGTTTATC 0.458000 17 67 4.7546e-09 5.07922e-09 1 1 0 OR10Q1 219960 broad.mit.edu 37 11 57995840 57995840 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:57995840G>T ENST00000316770.2 - 1 550 c.508C>A c.(508-510)Ctg>Atg p.L170M NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) CAAAAGGGCAGGGTGAAGATT 0.652000 5 48 0.000602214 0.000617299 1 1 0 MACF1 23499 broad.mit.edu 37 1 39801743 39801743 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:39801743A>G ENST00000564288.1 + 37 10260 c.9483A>G c.(9481-9483)caA>caG p.Q3161Q MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Silent_p.Q3198Q|MACF1_ENST00000372915.3_Silent_p.Q3166Q|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Silent_p.Q1601Q|MACF1_ENST00000539005.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 3166 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCAAACATCAAATTTCCTCAT 0.373000 20 102 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66426177 66426177 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:66426177T>A ENST00000404260.3 + 15 2202 c.1894T>A c.(1894-1896)Ttt>Att p.F632I MAST4_ENST00000403666.1_Missense_Mutation_p.F440I|MAST4_ENST00000261569.7_Missense_Mutation_p.F435I|MAST4_ENST00000405643.1_Missense_Mutation_p.F450I|MAST4_ENST00000403625.2_Missense_Mutation_p.F629I O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 632 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AGAAAACCCCTTTGTTGTCAG 0.453000 5 123 0 0 1 0 0 TMEM61 199964 broad.mit.edu 37 1 55457707 55457707 + Silent SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:55457707T>C ENST00000371268.3 + 3 838 c.564T>C c.(562-564)tcT>tcC p.S188S RP11-12C17.2_ENST00000436960.1_RNA NM_182532.1 NP_872338.1 Q8N0U2 TMM61_HUMAN transmembrane protein 61 188 integral to membrane endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 4 ATGCCGTTTCTGCGGAGACGA 0.612000 93 209 0 0 1 0 0 SFRP2 6423 broad.mit.edu 37 4 154709870 154709870 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:154709870A>T ENST00000274063.4 - 1 402 c.118T>A c.(118-120)Tgc>Agc p.C40S NM_003013.2 NP_003004.1 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 40 FZ. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) ATGGGCTTGCAATTGCTGCGC 0.637000 8 108 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178552080 178552080 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:178552080G>T ENST00000251582.7 - 19 2953 c.2852C>A c.(2851-2853)aCc>aAc p.T951N NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 951 TSP type-1 3. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CACGGAGCGGGTGGTGTTGTC 0.697000 38 220 4.06502e-11 4.42248e-11 1 1 0 HPS3 84343 broad.mit.edu 37 3 148872982 148872982 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:148872982G>A ENST00000296051.2 + 8 1629 c.1489G>A c.(1489-1491)Gtg>Atg p.V497M HPS3_ENST00000460120.1_Missense_Mutation_p.V332M NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 497 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GATCTCACCAGTGCAGCTGTA 0.333000 Hermansky-Pudlak syndrome 14 84 0 0 1 0 0 EGR2 1959 broad.mit.edu 37 10 64573654 64573654 + Silent SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:64573654G>C ENST00000242480.3 - 2 1069 c.744C>G c.(742-744)ccC>ccG p.P248P EGR2_ENST00000439032.1_Silent_p.P248P|EGR2_ENST00000411732.1_Silent_p.P198P NM_000399.3|NM_001136177.1 NP_000390.2|NP_001129649.1 P11161 EGR2_HUMAN early growth response 2 248 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 36 Prostate(12;0.0297)|all_hematologic(501;0.228) GGCAGGGAAAGGGCTTACGGT 0.597000 16 95 0 0 1 0 0 ACRV1 56 broad.mit.edu 37 11 125547901 125547901 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:125547901G>A ENST00000533904.1 - 2 686 c.344C>T c.(343-345)tCa>tTa p.S115L ACRV1_ENST00000527795.1_Missense_Mutation_p.S45L|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000315608.3_Missense_Mutation_p.S115L|ACRV1_ENST00000345274.1_Missense_Mutation_p.S45L|ACRV1_ENST00000348856.3_Missense_Mutation_p.S60L|ACRV1_ENST00000453509.1_Missense_Mutation_p.S45L|ACRV1_ENST00000530048.1_Missense_Mutation_p.S60L|ACRV1_ENST00000445562.1_Intron P26436 ASPX_HUMAN acrosomal vesicle protein 1 115 4 X 4 AA repeats of S-G-E-H.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA]. multicellular organismal development acrosomal vesicle kidney(1)|large_intestine(3)|lung(2) 6 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713) CTGTTCTCCTGAAGGCTGCTC 0.527000 11 160 0 0 1 0 0 SOAT1 6646 broad.mit.edu 37 1 179320559 179320559 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:179320559C>G ENST00000367619.3 + 15 1701 c.1558C>G c.(1558-1560)Caa>Gaa p.Q520E SOAT1_ENST00000540564.1_Missense_Mutation_p.Q462E|SOAT1_ENST00000539888.1_Missense_Mutation_p.Q455E|SOAT1_ENST00000535686.1_Missense_Mutation_p.Q256E NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 520 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) CTTTTATTCTCAAGAATGGTA 0.418000 10 249 0 0 1 0 0 SLC35B1 10237 broad.mit.edu 37 17 47784399 47784399 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:47784399G>T ENST00000240333.6 - 2 257 c.136C>A c.(136-138)Cag>Aag p.Q46K SLC35B1_ENST00000415270.2_Missense_Mutation_p.Q83K P78383 S35B1_HUMAN solute carrier family 35, member B1 46 endoplasmic reticulum membrane|integral to membrane|microsome UDP-galactose transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1) 7 AACGTCTCCTGCTTGGCTCCT 0.403000 25 183 2.85442e-18 3.17688e-18 1 1 0 USP1 7398 broad.mit.edu 37 1 62910819 62910819 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:62910819C>G ENST00000339950.4 + 6 1783 c.968C>G c.(967-969)tCt>tGt p.S323C USP1_ENST00000371146.1_Missense_Mutation_p.S323C NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 323 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) AAGTATATTTCTGAAAATGAG 0.343000 3 70 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10133873 10133873 + Missense_Mutation SNP A A C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:10133873A>C ENST00000287647.3 + 38 3879 c.3786A>C c.(3784-3786)gaA>gaC p.E1262D FANCD2OS_ENST00000436517.1_Intron|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_Missense_Mutation_p.K1231T|FANCD2_ENST00000419585.1_Missense_Mutation_p.E1262D|FANCD2_ENST00000383807.1_Missense_Mutation_p.E1262D NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 1262 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) AGATTCATGAAGAGAAACTCC 0.418000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 64 303 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31538215 31538215 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr18:31538215C>T ENST00000261592.5 - 7 1521 c.1224G>A c.(1222-1224)ctG>ctA p.L408L NOL4_ENST00000269185.4_Silent_p.L294L|NOL4_ENST00000589544.1_Silent_p.L408L|NOL4_ENST00000538587.1_Silent_p.L334L|NOL4_ENST00000535475.1_Silent_p.L253L|NOL4_ENST00000535384.1_Silent_p.L123L NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 408 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TAAAAGCTTTCAGCCGCTCGG 0.448000 17 73 0 0 1 0 0 WNT10A 80326 broad.mit.edu 37 2 219746934 219746934 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:219746934C>T ENST00000258411.3 + 2 798 c.165C>T c.(163-165)ctC>ctT p.L55L NM_025216.2 NP_079492.2 Q9GZT5 WN10A_HUMAN wingless-type MMTV integration site family, member 10A 55 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2) 12 Renal(207;0.0474) Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCCCGTGCTCAATGCCAACA 0.617000 19 67 0 0 1 0 0 TUBB6 84617 broad.mit.edu 37 18 12326037 12326037 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr18:12326037G>A ENST00000317702.5 + 4 1483 c.1249G>A c.(1249-1251)Gac>Aac p.D417N TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR Q9BUF5 TBB6_HUMAN tubulin, beta 6 class V 417 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1) 14 READ - Rectum adenocarcinoma(1;0.0649) CAACATGAACGACCTGGTATC 0.557000 9 201 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65272851 65272851 + RNA SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:65272851C>T ENST00000534336.1 + 0 7619 NR_002819.2 CTTGAAGTACCCCTGGGCTTC 0.443000 11 37 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55873336 55873336 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:55873336T>C ENST00000313503.1 + 1 818 c.818T>C c.(817-819)gTg>gCg p.V273A NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) AGAGATCAAGTGGCTTCTGTT 0.373000 HNSCC(53;0.14) 16 96 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88679230 88679230 + Silent SNP C C G rs141317844 by1000genomes TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:88679230C>G ENST00000394480.2 - 9 1128 c.807G>C c.(805-807)acG>acC p.T269T NTRK3_ENST00000557856.1_Silent_p.T269T|NTRK3_ENST00000360948.2_Silent_p.T269T|NTRK3_ENST00000542733.2_Silent_p.T171T|NTRK3_ENST00000317501.3_Silent_p.T269T|NTRK3_ENST00000357724.2_Silent_p.T269T|NTRK3_ENST00000558676.1_Silent_p.T269T|NTRK3_ENST00000355254.2_Silent_p.T269T|NTRK3_ENST00000540489.2_Silent_p.T269T NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 Ig-like C2-type 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) CATTCACCAGCGTCAAGTTGA 0.478000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 16 154 0 0 1 0 0 PADI1 29943 broad.mit.edu 37 1 17552329 17552329 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:17552329G>C ENST00000375471.4 + 5 524 c.432G>C c.(430-432)gaG>gaC p.E144D NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 144 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) GGGGCCCTGAGGGCTATGGGG 0.602000 18 150 0 0 1 0 0 ACSBG1 23205 broad.mit.edu 37 15 78475048 78475048 + Splice_Site SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:78475048G>A ENST00000258873.4 - 6 948 c.743C>T c.(742-744)aCg>aTg p.T248M ACSBG1_ENST00000560817.1_Splice_Site_p.T6M|ACSBG1_ENST00000541759.1_Splice_Site_p.T6M NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 248 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 TGCCCATACCGTGTACACATT 0.537000 27 161 0 0 1 0 0 ACO2 50 broad.mit.edu 37 22 41918881 41918881 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr22:41918881T>A ENST00000396512.3 + 10 1278 c.1261T>A c.(1261-1263)Tca>Aca p.S421T ACO2_ENST00000216254.4_Missense_Mutation_p.S396T Q99798 ACON_HUMAN aconitase 2, mitochondrial 396 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 TATGGGGCGCTCAGCAGCTGT 0.572000 19 78 0 0 1 0 0 SEL1L 6400 broad.mit.edu 37 14 81950697 81950697 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:81950697C>A ENST00000336735.4 - 19 2034 c.1918G>T c.(1918-1920)Ggg>Tgg p.G640W NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) 640 Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 28 BRCA - Breast invasive adenocarcinoma(234;0.0299) GTGCCAAACCCATAGAAATGG 0.368000 18 161 2.4624e-09 2.64112e-09 1 1 0 RP1L1 94137 broad.mit.edu 37 8 10466033 10466033 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr8:10466033C>T ENST00000382483.3 - 4 5798 c.5575G>A c.(5575-5577)Gat>Aat p.D1859N NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1859 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TCCTGGGCATCCCCTTCTGCC 0.627000 14 323 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40650683 40650683 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr21:40650683G>A ENST00000342449.3 - 10 1067 c.989C>T c.(988-990)tCt>tTt p.S330F BRWD1_ENST00000380800.3_Missense_Mutation_p.S330F|BRWD1_ENST00000333229.2_Missense_Mutation_p.S330F NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 330 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) ACTAAAAGAAGAACAAAGCAT 0.328000 6 110 0 0 1 0 0 VPS4B 9525 broad.mit.edu 37 18 61067362 61067362 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr18:61067362C>G ENST00000238497.5 - 7 912 c.709G>C c.(709-711)Gat>Cat p.D237H VPS4B_ENST00000591383.1_5'UTR NM_004869.3 NP_004860.2 O75351 VPS4B_HUMAN vacuolar protein sorting 4 homolog B (S. cerevisiae) 237 cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane ATP binding|ATPase activity, coupled|protein C-terminus binding breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 13 CAGAGAGAATCAATTTCATCA 0.343000 16 118 0 0 1 0 0 CELF5 60680 broad.mit.edu 37 19 3293415 3293415 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:3293415C>T ENST00000292672.2 + 12 1466 c.1429C>T c.(1429-1431)Cgg>Tgg p.R477W CELF5_ENST00000541430.2_3'UTR NM_021938.3 NP_068757.2 Q8N6W0 CELF5_HUMAN CUGBP, Elav-like family member 5 477 RRM 3. mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 13 CCAGCTGAAGCGGCCCAAAGA 0.672000 3 81 0 0 1 0 0 OR2AG1 144125 broad.mit.edu 37 11 6807165 6807165 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:6807165G>A ENST00000307401.4 + 1 918 c.897G>A c.(895-897)cgG>cgA p.R299R NM_001004489.2 NP_001004489.1 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, member 1 299 R -> G (in dbSNP:rs2659879).|R -> W (in dbSNP:rs2659879). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AGGTCATGCGGGCCTTGAGGA 0.502000 3 117 0 0 1 0 0 PDE5A 8654 broad.mit.edu 37 4 120517749 120517749 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:120517749C>G ENST00000354960.3 - 3 1079 c.760G>C c.(760-762)Gaa>Caa p.E254Q PDE5A_ENST00000394439.1_Missense_Mutation_p.E202Q|PDE5A_ENST00000264805.5_Missense_Mutation_p.E212Q NM_001083.3 NP_001074.2 O76074 PDE5A_HUMAN phosphodiesterase 5A, cGMP-specific 254 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) TGGTCAACTTCTGCATTGAAC 0.323000 3 79 0 0 1 0 0 TNFSF13B 10673 broad.mit.edu 37 13 108922324 108922324 + Missense_Mutation SNP T T G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:108922324T>G ENST00000375887.4 + 1 259 c.81T>G c.(79-81)tgT>tgG p.C27W TNFSF13B_ENST00000430559.1_Missense_Mutation_p.C27W|TNFSF13B_ENST00000542136.1_Missense_Mutation_p.C27W NM_006573.4 NP_006564.1 Q9Y275 TN13B_HUMAN tumor necrosis factor (ligand) superfamily, member 13b 27 cell proliferation|immune response|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity|tumor necrosis factor receptor binding large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104) all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19) TGAAGGAGTGTGTTTCCATCC 0.498000 12 219 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200967639 200967639 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:200967639G>C ENST00000332129.2 - 14 2266 c.1950C>G c.(1948-1950)atC>atG p.I650M KIF21B_ENST00000461742.2_Missense_Mutation_p.I650M|KIF21B_ENST00000422435.2_Missense_Mutation_p.I650M|KIF21B_ENST00000360529.5_Missense_Mutation_p.I650M NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 650 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.I650I(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CCAGCTCGTCGATCAGCTTCT 0.562000 23 235 0 0 1 0 0 PPAP2C 8612 broad.mit.edu 37 19 281413 281413 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:281413T>C ENST00000269812.3 - 6 891 c.842A>G c.(841-843)tAt>tGt p.Y281C PPAP2C_ENST00000434325.2_Missense_Mutation_p.Y225C|PPAP2C_ENST00000327790.3_Missense_Mutation_p.Y302C NM_003712.2|NM_177526.1 NP_003703.1|NP_803545.1 O43688 LPP2_HUMAN phosphatidic acid phosphatase type 2C 281 sphingolipid metabolic process integral to membrane|plasma membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1) 5 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGGTATCCATAGTGGTTGTG 0.657000 5 32 0 0 1 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140769595 140769595 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:140769595G>A ENST00000519479.1 + 1 2144 c.2144G>A c.(2143-2145)cGc>cAc p.R715H PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCTGCGACGCTCCTCCAGC 0.587000 9 306 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963497 73963497 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:73963497C>G ENST00000055682.6 - 3 1506 c.895G>C c.(895-897)Gat>Cat p.D299H NM_001008537.2 NP_001008537.1 Q5QGS0 K2022_HUMAN KIAA2022 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GTTGATTCATCATCATCAAAC 0.393000 3 94 0 0 1 0 0 ZNF430 80264 broad.mit.edu 37 19 21239443 21239443 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:21239443A>G ENST00000261560.5 + 5 510 c.329A>G c.(328-330)tAt>tGt p.Y110C NM_001172671.1|NM_025189.3 NP_001166142.1|NP_079465.3 Q9H8G1 ZN430_HUMAN zinc finger protein 430 110 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 TCAGTTACATATTCTCATTTT 0.308000 7 63 0 0 1 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140764040 140764040 + Nonsense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:140764040T>A ENST00000518325.1 + 1 1574 c.1574T>A c.(1573-1575)tTg>tAg p.L525* PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATGAGCAGTTGAGAGAACTA 0.532000 5 67 0 0 1 0 0 TRIM46 80128 broad.mit.edu 37 1 155152224 155152224 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:155152224C>A ENST00000368382.1 + 8 1470 c.1333C>A c.(1333-1335)Cgc>Agc p.R445S TRIM46_ENST00000368383.3_Missense_Mutation_p.R468S|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.R342S|TRIM46_ENST00000392451.2_Silent_p.G480G|TRIM46_ENST00000334634.4_Missense_Mutation_p.R468S|TRIM46_ENST00000543729.1_Silent_p.G487G|TRIM46_ENST00000368385.4_Missense_Mutation_p.R468S NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4 NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3 Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 468 Fibronectin type-III. intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TGAGTTCCGGCGCACGGATGT 0.652000 5 54 0.0215528 0.021675 1 1 0 MCM7 4176 broad.mit.edu 37 7 99697266 99697266 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:99697266C>T ENST00000303887.5 - 3 867 c.222G>A c.(220-222)gcG>gcA p.A74A MCM7_ENST00000343023.6_Silent_p.A74A|MCM7_ENST00000354230.3_5'UTR NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 74 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) CAAAGAGCTTCGCGTAGCGCC 0.542000 5 188 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12405437 12405437 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:12405437C>T ENST00000358136.3 + 43 9022 c.8892C>T c.(8890-8892)acC>acT p.T2964T VPS13D_ENST00000356315.4_Silent_p.T2939T NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2963 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ACAGACACACCCATGACCTCC 0.438000 23 166 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65179748 65179748 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr18:65179748G>T ENST00000310045.7 - 2 3601 c.2128C>A c.(2128-2130)Cct>Act p.P710T CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 700 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) TGAAGTCCAGGATTGGAACTA 0.348000 6 56 0.00198382 0.0020257 1 1 0 IRX6 79190 broad.mit.edu 37 16 55362966 55362966 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:55362966C>T ENST00000290552.7 + 5 2408 c.1076C>T c.(1075-1077)aCa>aTa p.T359I RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 359 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CACACCGCGACAGCCAGCGCT 0.637000 14 104 0 0 1 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79855446 79855446 + Silent SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:79855446T>C ENST00000338682.3 - 5 1065 c.393A>G c.(391-393)acA>acG p.T131T NM_001004441.2 NP_001004441.2 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 131 cytoplasm|nucleus NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) TCAGGGTCTCTGTATCTTCTG 0.438000 23 131 0 0 1 0 0 ABHD17A 81926 broad.mit.edu 37 19 1881473 1881473 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:1881473C>T ENST00000292577.7 - 2 526 c.93G>A c.(91-93)ccG>ccA p.P31P ABHD17A_ENST00000590661.1_Silent_p.P31P|ABHD17A_ENST00000250974.9_Silent_p.P31P NM_001130111.1 NP_001123583.1 abhydrolase domain containing 17A AGGTGGCCTCCGGCGGCAGGA 0.751000 4 66 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63032843 63032843 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:63032843G>C ENST00000561311.1 + 31 4130 c.3900G>C c.(3898-3900)caG>caC p.Q1300H TLN2_ENST00000306829.6_Missense_Mutation_p.Q1300H Q9Y4G6 TLN2_HUMAN talin 2 1300 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 AAGAAGACCAGATCCAAGTGA 0.502000 21 101 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109697168 109697168 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:109697168C>G ENST00000465301.2 + 3 3569 c.3323C>G c.(3322-3324)tCt>tGt p.S1108C RGAG1_ENST00000540313.1_Missense_Mutation_p.S1108C NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 1108 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 GCATCCACCTCTCACATTAAC 0.532000 14 112 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082220 152082220 + Missense_Mutation SNP G G C rs113946258 TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:152082220G>C ENST00000368804.1 - 2 3472 c.3473C>G c.(3472-3474)cCg>cGg p.P1158R NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1158 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTCTTCTCCGGTTCCTCTCT 0.592000 3 122 0 0 1 0 0 C9orf156 51531 broad.mit.edu 37 9 100667070 100667070 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:100667070G>A ENST00000375119.3 - 5 1347 c.1271C>T c.(1270-1272)tCt>tTt p.S424F NM_016481.3 NP_057565.3 Q9BU70 NAP1_HUMAN chromosome 9 open reading frame 156 424 interspecies interaction between organisms hydrolase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1) 13 Acute lymphoblastic leukemia(62;0.158) AACAGGCTCAGAAGCCGGCTT 0.502000 14 109 0 0 1 0 0 SNX4 8723 broad.mit.edu 37 3 125166629 125166629 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:125166629C>T ENST00000251775.4 - 14 1371 c.1347G>A c.(1345-1347)aaG>aaA p.K449K SNX4_ENST00000536067.1_Silent_p.K304K NM_003794.2 NP_003785.1 O95219 SNX4_HUMAN sorting nexin 4 449 cell communication|endocytic recycling|endocytosis|protein transport cytoplasmic dynein complex|early endosome membrane phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1) 11 AGGATTACATCTTGCTAAAGC 0.313000 17 118 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81743987 81743987 + Silent SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:81743987T>C ENST00000555447.1 - 6 2080 c.1668A>G c.(1666-1668)tcA>tcG p.S556S STON2_ENST00000267540.2_Silent_p.S556S NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 556 SHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) TCAAGTCCATTGACAACACTG 0.478000 6 43 0 0 1 0 0 SLC39A10 57181 broad.mit.edu 37 2 196581361 196581361 + Splice_Site SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:196581361G>C ENST00000409086.3 + 7 1972 c.1697G>C c.(1696-1698)gGa>gCa p.G566A SLC39A10_ENST00000359634.5_Splice_Site_p.G566A|SLC39A10_ENST00000541054.1_Splice_Site_p.G116A NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 566 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) ATAAATACAGGAACTGATGAC 0.323000 11 82 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111936346 111936346 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:111936346C>T ENST00000305815.5 - 15 1985 c.1733G>A c.(1732-1734)aGa>aAa p.R578K SLC9C1_ENST00000487372.1_Missense_Mutation_p.R530K NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 578 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity TAGTAGTTTTCTAGCAAAGGT 0.303000 5 82 0 0 1 0 0 RMND5B 64777 broad.mit.edu 37 5 177573138 177573138 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:177573138C>T ENST00000515098.1 + 9 1069 c.718C>T c.(718-720)Ctg>Ttg p.L240L RMND5B_ENST00000313386.4_Silent_p.L240L|RMND5B_ENST00000542098.1_Silent_p.L227L Q96G75 RMD5B_HUMAN required for meiotic nuclear division 5 homolog B (S. cerevisiae) 240 endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 17 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GATGGGCAGCCTGGTGTACCT 0.642000 OREG0017097 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 48 0 0 1 0 0 TNFSF13B 10673 broad.mit.edu 37 13 108922325 108922325 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:108922325G>A ENST00000375887.4 + 1 260 c.82G>A c.(82-84)Gtt>Att p.V28I TNFSF13B_ENST00000430559.1_Missense_Mutation_p.V28I|TNFSF13B_ENST00000542136.1_Missense_Mutation_p.V28I NM_006573.4 NP_006564.1 Q9Y275 TN13B_HUMAN tumor necrosis factor (ligand) superfamily, member 13b 28 cell proliferation|immune response|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity|tumor necrosis factor receptor binding large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104) all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19) GAAGGAGTGTGTTTCCATCCT 0.498000 11 222 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236270 140236270 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:140236270G>A ENST00000307360.5 + 1 637 c.637G>A c.(637-639)Gca>Aca p.A213T PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A213T|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018901.2 NP_061724.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTGTTGACAGCAACTGATGG 0.423000 21 143 0 0 1 0 0 SNRNP48 154007 broad.mit.edu 37 6 7602960 7602960 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:7602960A>G ENST00000342415.5 + 6 759 c.700A>G c.(700-702)Aag>Gag p.K234E NM_152551.3 NP_689764.3 Q6IEG0 SNR48_HUMAN small nuclear ribonucleoprotein 48kDa (U11/U12) 234 mRNA processing cytoplasm|U12-type spliceosomal complex metal ion binding kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 TCACATAACCAAGAAATCATA 0.333000 6 47 0 0 1 0 0 EYA4 2070 broad.mit.edu 37 6 133849925 133849925 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:133849925G>A ENST00000367895.5 + 20 2366 c.1902G>A c.(1900-1902)ctG>ctA p.L634L EYA4_ENST00000355286.6_Silent_p.L611L|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000525849.1_Silent_p.L611L|EYA4_ENST00000431403.2_Silent_p.L634L|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000452339.2_Silent_p.L580L|EYA4_ENST00000531901.1_Silent_p.L640L|EYA4_ENST00000355167.3_Silent_p.L634L NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 634 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) ACCAAGCACTGGAATTAGAGT 0.448000 8 263 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7817000 7817000 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:7817000C>T ENST00000338316.4 + 23 2994 c.2905C>T c.(2905-2907)Cac>Tac p.H969Y ADCY2_ENST00000537121.1_Missense_Mutation_p.H789Y NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 969 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GCAGTACATGCACATTGGCAC 0.517000 OREG0016499 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 91 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140552984 140552984 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:140552984A>G ENST00000231137.3 + 1 742 c.568A>G c.(568-570)Atc>Gtc p.I190V NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 190 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGGGGAATATCTATCCCGA 0.488000 16 66 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80613677 80613677 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:80613677A>G ENST00000458043.2 + 5 298 c.292A>G c.(292-294)Aca>Gca p.T98A OTOGL_ENST00000547103.1_Missense_Mutation_p.T98A NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 GGCTCTTGGGACAAGATGCCA 0.373000 5 18 0 0 1 0 0 SEMA3G 56920 broad.mit.edu 37 3 52473771 52473771 + Silent SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:52473771G>C ENST00000231721.2 - 12 1391 c.1392C>G c.(1390-1392)ctC>ctG p.L464L NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 464 Sema. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) CGATGACTTTGAGCACAGACC 0.632000 7 61 0 0 1 0 0 IGHV4-59 28392 broad.mit.edu 37 14 107083645 107083645 + RNA SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:107083645G>A ENST00000455737.1 - 0 80 CTCACATCTGGGAGCTGCCAC 0.537000 7 65 0 0 1 0 0 SMG5 23381 broad.mit.edu 37 1 156230278 156230278 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:156230278A>G ENST00000361813.5 - 15 2391 c.2247T>C c.(2245-2247)ttT>ttC p.F749F SMG5_ENST00000368267.5_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 749 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) GATCCGTGTCAAAGTTAAAGC 0.547000 24 179 0 0 1 0 0 SGOL1 151648 broad.mit.edu 37 3 20215950 20215950 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:20215950C>G ENST00000412997.1 - 6 1424 c.1073G>C c.(1072-1074)aGa>aCa p.R358T SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000263753.4_Missense_Mutation_p.R358T|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000421451.1_Missense_Mutation_p.R358T|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000412868.1_Missense_Mutation_p.R358T|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000306698.2_Intron NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 358 attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 GTTTTCTTCTCTATTAGAGTC 0.398000 13 109 0 0 1 0 0 MRPL20 55052 broad.mit.edu 37 1 1337499 1337499 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:1337499A>G ENST00000344843.7 - 4 509 c.414T>C c.(412-414)ccT>ccC p.P138P MRPL20_ENST00000493287.1_5'UTR NM_017971.3 NP_060441.2 Q9BYC9 RM20_HUMAN mitochondrial ribosomal protein L20 138 protein binding|rRNA binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) AAATGCCTTCAGGTTCCTTCC 0.463000 32 215 0 0 1 0 0 C4BPA 722 broad.mit.edu 37 1 207300065 207300065 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:207300065C>T ENST00000367070.3 + 7 908 c.714C>T c.(712-714)acC>acT p.T238T NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 238 Sushi 4. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TAGAAATCACCTGTCGCAAGC 0.373000 21 100 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059640 152059640 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:152059640G>C ENST00000368806.1 - 3 582 c.518C>G c.(517-519)tCt>tGt p.S173C NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 173 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) ATTGTGTTCAGATGCTTCTCC 0.438000 9 127 0 0 1 0 0 METTL7A 25840 broad.mit.edu 37 12 51318851 51318851 + Silent SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:51318851G>C ENST00000548553.1 + 2 1011 c.30G>C c.(28-30)ctG>ctC p.L10L METTL7A_ENST00000332160.4_Silent_p.L10L Q9H8H3 MET7A_HUMAN methyltransferase like 7A 10 Targeting to lipid droplets. endoplasmic reticulum|lipid particle|membrane methyltransferase activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 10 TCCTGAGACTGGCCATTTACA 0.453000 26 144 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153128264 153128264 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:153128264C>T ENST00000370060.1 - 29 3817 c.3628G>A c.(3628-3630)Gat>Aat p.D1210N L1CAM_ENST00000370057.3_Missense_Mutation_p.D1210N|L1CAM_ENST00000538883.1_Missense_Mutation_p.D1208N|L1CAM_ENST00000370055.1_Missense_Mutation_p.D1201N|L1CAM_ENST00000361981.3_Missense_Mutation_p.D1201N|L1CAM_ENST00000543994.1_Missense_Mutation_p.D1212N|L1CAM_ENST00000361699.4_Missense_Mutation_p.D1206N NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 1210 axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCCCATAATCGGCCAGGCTG 0.597000 18 42 0 0 1 0 0 TM7SF3 51768 broad.mit.edu 37 12 27135731 27135731 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:27135731G>C ENST00000343028.4 - 7 1155 c.930C>G c.(928-930)ttC>ttG p.F310L TM7SF3_ENST00000542667.1_Intron NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 310 Phe-rich. integral to membrane|plasma membrane p.F310L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) TGTGTCCAAAGAAACAAATGA 0.368000 6 36 0 0 1 0 0 PARPBP 55010 broad.mit.edu 37 12 102589201 102589201 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:102589201C>T ENST00000327680.2 + 11 1595 c.1132C>T c.(1132-1134)Ctt>Ttt p.L378F PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000541394.1_Missense_Mutation_p.L536F|PARPBP_ENST00000358383.5_Missense_Mutation_p.L459F|PARPBP_ENST00000392911.2_Missense_Mutation_p.L378F|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000378128.3_Intron NM_017915.3 NP_060385.3 Q9NWS1 PR1BP_HUMAN PARP1 binding protein 459 response to DNA damage stimulus cytoplasm|nucleus DNA binding endometrium(1)|lung(8)|urinary_tract(2) 11 TTTGTGTGTTCTTTACATGGA 0.264000 15 142 0 0 1 0 0 EFCAB3 146779 broad.mit.edu 37 17 60470976 60470976 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:60470976C>G ENST00000450662.2 + 7 565 c.494C>G c.(493-495)aCa>aGa p.T165R EFCAB3_ENST00000305286.3_Missense_Mutation_p.T113R NM_001144933.1 NP_001138405.1 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 113 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) AAGGTTCTAACAGATAAGAAT 0.408000 20 83 0 0 1 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42866365 42866365 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr21:42866365G>A ENST00000398585.3 - 3 327 c.267C>T c.(265-267)taC>taT p.Y89Y TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000458356.1_Silent_p.Y52Y|TMPRSS2_ENST00000332149.5_Silent_p.Y52Y NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 52 proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) CCCTCGGGGCGTACTGGGGCA 0.617000 T """ERG, ETV1, ETV4, ETV5""" prostate 4 104 0 0 1 0 0 PIEZO2 63895 broad.mit.edu 37 18 10696460 10696460 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr18:10696460A>G ENST00000302079.6 - 42 6565 c.6566T>C c.(6565-6567)gTg>gCg p.V2189A PIEZO2_ENST00000538948.1_Missense_Mutation_p.V146A|PIEZO2_ENST00000580640.1_Missense_Mutation_p.V2214A|PIEZO2_ENST00000503781.3_Missense_Mutation_p.V2189A|PIEZO2_ENST00000285141.4_Missense_Mutation_p.V44A Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2189 integral to membrane ion channel activity GAGTACATACACGTCAGTCAC 0.537000 3 94 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27703135 27703135 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:27703135C>T ENST00000438700.3 - 1 162 c.45G>A c.(43-45)aaG>aaA p.K15K NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 15 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 TGAGCTTGGGCTTCTGCTCCG 0.642000 36 188 0 0 1 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161018166 161018166 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:161018166G>C ENST00000368013.3 - 12 2965 c.2645C>G c.(2644-2646)tCt>tGt p.S882C ARHGAP30_ENST00000368015.1_Missense_Mutation_p.S705C|ARHGAP30_ENST00000368016.3_Intron NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 882 Glu-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CATCTCAGAAGAGTGAGGATT 0.572000 3 99 0 0 1 0 0 PRKCA 5578 broad.mit.edu 37 17 64637500 64637500 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:64637500A>T ENST00000413366.3 + 4 342 c.316A>T c.(316-318)Atc>Ttc p.I106F NM_002737.2 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha 106 activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) CAAGTTCAAAATCCACACTTA 0.458000 49 216 0 0 1 0 0 HOMER1 9456 broad.mit.edu 37 5 78692703 78692703 + Missense_Mutation SNP T T G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:78692703T>G ENST00000334082.6 - 8 2261 c.819A>C c.(817-819)gaA>gaC p.E273D HOMER1_ENST00000535690.1_Missense_Mutation_p.E99D|HOMER1_ENST00000282260.6_Missense_Mutation_p.E143D|HOMER1_ENST00000508576.1_Intron NM_004272.3 NP_004263.1 Q86YM7 HOME1_HUMAN homer homolog 1 (Drosophila) 273 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1) 14 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) CATTATCAATTTCTTGTTTTA 0.348000 6 19 0 0 1 0 0 C15orf54 400360 broad.mit.edu 37 15 39544423 39544423 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:39544423A>G ENST00000318578.3 + 2 455 c.87A>G c.(85-87)ctA>ctG p.L29L RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Silent_p.L29L|RP11-624L4.1_ENST00000558209.1_RNA NM_207445.2 NP_997328.1 Q8N8G6 CO054_HUMAN chromosome 15 open reading frame 54 29 NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2) 5 all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706) CCTTATGGCTAACTCCATGGC 0.488000 9 568 0 0 1 0 0 LIPC 3990 broad.mit.edu 37 15 58855759 58855759 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:58855759G>C ENST00000414170.3 + 9 1512 c.1225G>C c.(1225-1227)Gat>Cat p.D409H LIPC_ENST00000299022.5_Missense_Mutation_p.D409H|LIPC_ENST00000433326.2_Missense_Mutation_p.D348H|LIPC_ENST00000356113.6_Missense_Mutation_p.D409H P11150 LIPC_HUMAN lipase, hepatic 409 PLAT. D -> A. cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) GCTGGATGTGGATATCGGCGA 0.453000 9 176 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49446821 49446821 + Nonsense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:49446821G>C ENST00000301067.7 - 8 988 c.989C>G c.(988-990)tCa>tGa p.S330* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CAGTTCTGCTGAGCCCGCCCC 0.567000 9 237 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11313325 11313325 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:11313325C>T ENST00000294618.7 - 42 5307 c.5296G>A c.(5296-5298)Gag>Aag p.E1766K DOCK6_ENST00000319867.7_Missense_Mutation_p.E1105K|DOCK6_ENST00000586702.1_5'UTR NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1766 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 AACTCCTGCTCATCCAGGTCA 0.622000 12 220 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28581659 28581659 + Silent SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr18:28581659C>G ENST00000434452.1 - 14 2314 c.2160G>C c.(2158-2160)ggG>ggC p.G720G DSC3_ENST00000360428.4_Silent_p.G720G NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 720 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) GAAAACGTTTCCCTTTAGTTG 0.284000 17 115 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48605567 48605567 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:48605567C>T ENST00000328333.8 - 105 7938 c.7831G>A c.(7831-7833)Gga>Aga p.G2611R COL7A1_ENST00000454817.1_Missense_Mutation_p.G2579R NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2611 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCTTTTTCTCCTCGGATACCA 0.532000 16 83 0 0 1 0 0 DHRS9 10170 broad.mit.edu 37 2 169948457 169948457 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:169948457G>A ENST00000327239.4 + 7 2234 c.730G>A c.(730-732)Gaa>Aaa p.E244K DHRS9_ENST00000412271.1_Missense_Mutation_p.E244K|DHRS9_ENST00000602501.1_Missense_Mutation_p.E244K|DHRS9_ENST00000432060.2_Missense_Mutation_p.E304K|DHRS9_ENST00000357546.2_Missense_Mutation_p.E244K|DHRS9_ENST00000428522.1_Missense_Mutation_p.E244K|DHRS9_ENST00000421653.1_Missense_Mutation_p.E97K|DHRS9_ENST00000436483.2_Missense_Mutation_p.E244K NM_005771.4 NP_005762.2 Q9BPW9 DHRS9_HUMAN dehydrogenase/reductase (SDR family) member 9 244 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 AGGTTACATTGAAAAAAGTGA 0.403000 4 43 0 0 1 0 0 TMEM246 84302 broad.mit.edu 37 9 104239024 104239024 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:104239024G>A ENST00000374851.1 - 4 1498 c.351C>T c.(349-351)taC>taT p.Y117Y RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Silent_p.Y117Y|TMEM246_ENST00000374847.1_Silent_p.Y117Y|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA Q9BRR3 CI125_HUMAN transmembrane protein 246 117 integral to membrane CCTGCAGGACGTAGTGGAAGC 0.617000 4 104 0 0 1 0 0 KIAA0430 9665 broad.mit.edu 37 16 15728731 15728731 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:15728731T>A ENST00000396368.3 - 4 1095 c.889A>T c.(889-891)Aat>Tat p.N297Y KIAA0430_ENST00000540441.2_Missense_Mutation_p.N297Y|KIAA0430_ENST00000548025.1_Missense_Mutation_p.N297Y|KIAA0430_ENST00000551742.1_Missense_Mutation_p.N297Y|KIAA0430_ENST00000602337.1_Missense_Mutation_p.N297Y|KIAA0430_ENST00000344181.3_Missense_Mutation_p.N119Y NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 296 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 GGTTGAGTATTTGGAGGTGGT 0.443000 7 174 0 0 1 0 0 FUBP3 8939 broad.mit.edu 37 9 133506081 133506081 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:133506081C>T ENST00000319725.9 + 13 1259 c.1184C>T c.(1183-1185)cCt>cTt p.P395L NM_003934.1 NP_003925.1 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 395 KH 4. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2) 21 OV - Ovarian serous cystadenocarcinoma(145;0.000279) AGGAACCCCCCTCCCAACAGC 0.587000 5 84 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161470322 161470322 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:161470322C>G ENST00000392142.4 + 3 1166 c.1018C>G c.(1018-1020)Cat>Gat p.H340D MAP3K4_ENST00000366919.2_Missense_Mutation_p.H340D|MAP3K4_ENST00000348824.7_Missense_Mutation_p.H340D|MAP3K4_ENST00000366920.2_Missense_Mutation_p.H340D NM_005922.2 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 340 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TTACTCAACACATCATGAGCA 0.453000 7 73 0 0 1 0 0 DAB2 1601 broad.mit.edu 37 5 39381584 39381584 + Silent SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:39381584A>T ENST00000320816.6 - 11 1943 c.1476T>A c.(1474-1476)ccT>ccA p.P492P DAB2_ENST00000509337.1_Silent_p.P471P|DAB2_ENST00000339788.6_Silent_p.P274P|DAB2_ENST00000545653.1_Silent_p.P471P NM_001343.3 NP_001334.2 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 492 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) CCACTGGGGCAGGAGCACTTG 0.522000 4 202 0 0 1 0 0 HSF2 3298 broad.mit.edu 37 6 122733867 122733867 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:122733867C>G ENST00000452194.1 + 3 475 c.288C>G c.(286-288)ttC>ttG p.F96L HSF2_ENST00000368455.4_Missense_Mutation_p.F96L NM_001135564.1 NP_001129036.1 Q03933 HSF2_HUMAN heat shock transcription factor 2 96 response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) ATCCTTACTTCAAACAAGGAC 0.398000 7 133 0 0 1 0 0 PAQR7 164091 broad.mit.edu 37 1 26189908 26189908 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:26189908C>T ENST00000374296.3 - 2 1089 c.423G>A c.(421-423)ctG>ctA p.L141L RP1-125I3.2_ENST00000455431.1_RNA NM_178422.5 NP_848509.1 Q86WK9 MPRA_HUMAN progestin and adipoQ receptor family member VII 141 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 9 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649) CCACATAGTCCAGGAAGAAGA 0.547000 36 181 0 0 1 0 0 SLC29A2 3177 broad.mit.edu 37 11 66133943 66133943 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:66133943G>C ENST00000357440.2 - 8 1054 c.826C>G c.(826-828)Cag>Gag p.Q276E SLC29A2_ENST00000546034.1_Missense_Mutation_p.Q276E|SLC29A2_ENST00000311161.7_Intron|SLC29A2_ENST00000544554.1_Missense_Mutation_p.Q276E NM_001532.2 NP_001523.2 Q14542 S29A2_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 2 276 cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 CCTGGCTTCTGGGGCTCATCT 0.537000 10 56 0 0 1 0 0 CLPTM1L 81037 broad.mit.edu 37 5 1338993 1338993 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:1338993A>T ENST00000320895.5 - 4 838 c.581T>A c.(580-582)gTg>gAg p.V194E CLPTM1L_ENST00000507807.1_Missense_Mutation_p.V61E|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.V194E NM_030782.3 NP_110409.2 Q96KA5 CLP1L_HUMAN CLPTM1-like 194 apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) GTACCGATGCACATCGGCAGG 0.647000 21 139 0 0 1 0 0 PQLC2 54896 broad.mit.edu 37 1 19644098 19644098 + Translation_Start_Site SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:19644098C>A ENST00000375153.3 + 0 567 PQLC2_ENST00000400548.2_Intron|PQLC2_ENST00000375155.3_De_novo_Start_OutOfFrame NM_001040125.1 NP_001035214.1 Q6ZP29 PQLC2_HUMAN PQ loop repeat containing 2 integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CTGTAGAACCCTTGCTGGCCT 0.632000 4 22 0.00909568 0.00923455 1 1 0 ZNF525 170958 broad.mit.edu 37 19 53884194 53884194 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:53884194G>C ENST00000467003.1 + 4 455 c.254G>C c.(253-255)gGt>gCt p.G85A ZNF525_ENST00000474037.1_Missense_Mutation_p.G121A|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000600148.1_3'UTR|ZNF525_ENST00000593918.1_Intron zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 AAATTGATGGGTAGTACAGAG 0.368000 6 170 0 0 1 0 0 MAPK1IP1L 93487 broad.mit.edu 37 14 55529993 55529993 + Nonsense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:55529993C>T ENST00000395468.4 + 3 853 c.676C>T c.(676-678)Caa>Taa p.Q226* NM_144578.3 NP_653179.1 Q8NDC0 MISSL_HUMAN mitogen-activated protein kinase 1 interacting protein 1-like Pro-rich. endometrium(2)|large_intestine(1)|lung(3) 6 TAATCCTTTCCAAGTGCCTTC 0.512000 9 102 0 0 1 0 0 POR 5447 broad.mit.edu 37 7 75615697 75615697 + Nonsense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:75615697C>A ENST00000461988.1 + 16 2046 c.1941C>A c.(1939-1941)taC>taA p.Y647* POR_ENST00000419840.1_Missense_Mutation_p.T348K|POR_ENST00000394893.1_3'UTR|POR_ENST00000545601.1_Nonsense_Mutation_p.Y455*|POR_ENST00000439269.1_Nonsense_Mutation_p.Y385*|POR_ENST00000450476.1_Missense_Mutation_p.T553K NM_000941.2 NP_000932.3 P16435 NCPR_HUMAN P450 (cytochrome) oxidoreductase 644 cellular organofluorine metabolic process|positive regulation of monooxygenase activity endoplasmic reticulum membrane iron ion binding|NADPH-hemoprotein reductase activity central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1) 9 Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665) ACACCTTCTACGACATCGTGG 0.632000 17 88 1.55795e-14 1.71245e-14 1 1 0 DYNLT3 6990 broad.mit.edu 37 X 37705596 37705596 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:37705596C>T ENST00000378578.4 - 2 172 c.46G>A c.(46-48)Gag>Aag p.E16K TM4SF2_ENST00000465127.1_Intron|DYNLT3_ENST00000432389.2_Missense_Mutation_p.E22K|DYNLT3_ENST00000378581.3_Missense_Mutation_p.E16K NM_006520.2 NP_006511.1 P51808 DYLT3_HUMAN dynein, light chain, Tctex-type 3 16 cell division|mitosis|regulation of mitotic cell cycle|transport condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|nucleus|plasma membrane motor activity endometrium(1)|lung(1)|skin(1) 3 TGGGCTTCCTCAGCATTGAAG 0.408000 6 21 0 0 1 0 0 CNN2 1265 broad.mit.edu 37 19 1032581 1032581 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:1032581C>G ENST00000263097.4 + 4 639 c.276C>G c.(274-276)atC>atG p.I92M CNN2_ENST00000348419.3_Missense_Mutation_p.I92M|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Missense_Mutation_p.I92M|CNN2_ENST00000562958.2_Missense_Mutation_p.I92M NM_004368.2 NP_004359.1 Q99439 CNN2_HUMAN calponin 2 92 CH. actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCAACTTCATCAAGGCCATGG 0.577000 9 102 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41075732 41075732 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:41075732A>G ENST00000324545.8 + 35 6545 c.5912A>G c.(5911-5913)gAg>gGg p.E1971G USP9X_ENST00000378308.2_Missense_Mutation_p.E1971G NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TATATATCAGAGCTTGCTATC 0.398000 24 54 0 0 1 0 0 CLPB 81570 broad.mit.edu 37 11 72069953 72069953 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:72069953T>C ENST00000294053.3 - 6 1009 c.836A>G c.(835-837)tAc>tGc p.Y279C CLPB_ENST00000543042.1_Missense_Mutation_p.Y78C|CLPB_ENST00000445069.2_Missense_Mutation_p.Y175C|RP11-45F15.2_ENST00000537727.1_RNA|CLPB_ENST00000437826.2_Missense_Mutation_p.Y234C|CLPB_ENST00000340729.5_Missense_Mutation_p.Y220C|CLPB_ENST00000538039.1_Missense_Mutation_p.Y249C NM_001258394.1|NM_030813.4 NP_001245323.1|NP_110440.1 Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 279 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 GACAGTGCGGTAGTCATCAGC 0.602000 11 143 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51612779 51612779 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:51612779A>G ENST00000371117.3 - 58 9910 c.9635T>C c.(9634-9636)tTt>tCt p.F3212S PKHD1_ENST00000340994.4_Missense_Mutation_p.F3212S NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3212 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) AATGCAGTCAAAAGAAGAGCT 0.448000 22 128 0 0 1 0 0 A4GNT 51146 broad.mit.edu 37 3 137843160 137843160 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:137843160C>T ENST00000236709.3 - 3 1170 c.969G>A c.(967-969)ctG>ctA p.L323L NM_016161.2 NP_057245.1 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 323 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 GGCCTTTAATCAGGTCCCTGT 0.522000 7 114 0 0 1 0 0 CYP19A1 1588 broad.mit.edu 37 15 51514603 51514603 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:51514603G>A ENST00000396402.1 - 5 724 c.571C>T c.(571-573)Ctg>Ttg p.L191L CYP19A1_ENST00000557858.1_Silent_p.L191L|CYP19A1_ENST00000559878.1_Silent_p.L191L|CYP19A1_ENST00000405913.3_Silent_p.L191L|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Silent_p.L191L|CYP19A1_ENST00000396404.4_Silent_p.L191L NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 191 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) ACACGACGCAGAAGGGTCAAC 0.488000 8 96 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21870182 21870182 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:21870182C>T ENST00000399982.2 - 19 4060 c.3996G>A c.(3994-3996)caG>caA p.Q1332Q CHD8_ENST00000557364.1_Silent_p.Q1332Q|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Silent_p.Q1053Q NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1332 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TTAACAAGATCTGGTCAATGT 0.413000 12 156 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62292768 62292768 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:62292768C>G ENST00000378024.4 - 5 9395 c.9121G>C c.(9121-9123)Gat>Cat p.D3041H AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3041 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ACATCCACATCTGGGCCCTCT 0.522000 28 401 0 0 1 0 0 GPC2 221914 broad.mit.edu 37 7 99771457 99771457 + Splice_Site SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:99771457C>A ENST00000292377.2 - 5 1060 c.e5+1 GPC2_ENST00000471050.1_Splice_Site NM_152742.1 NP_689955.1 Q8N158 GPC2_HUMAN glypican 2 anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3) 18 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AATCCCCTCACCCAGATAGTT 0.597000 56 628 3.13765e-25 3.54402e-25 1 1 0 ANKHD1 54882 broad.mit.edu 37 5 139917005 139917005 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:139917005A>G ENST00000297183.6 + 31 7183 c.7059A>G c.(7057-7059)ccA>ccG p.P2353P ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.P2353P|ANKHD1_ENST00000544120.1_Silent_p.P677P|ANKHD1_ENST00000360839.2_Silent_p.P2353P NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGCCAACCAAAAGGAGTCA 0.522000 35 149 0 0 1 0 0 NGFRAP1 27018 broad.mit.edu 37 X 102632754 102632754 + Nonstop_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:102632754G>T ENST00000361298.4 + 3 670 c.305G>T c.(304-306)tGa>tTa p.*102L NGFRAP1_ENST00000299872.7_Nonstop_Mutation_p.*112L|NGFRAP1_ENST00000372635.1_Nonstop_Mutation_p.*112L|NGFRAP1_ENST00000372645.3_Nonstop_Mutation_p.*112L|NGFRAP1_ENST00000372634.1_Nonstop_Mutation_p.*102L NM_206915.1|NM_206917.1 NP_996798.1|NP_996800.1 Q00994 BEX3_HUMAN nerve growth factor receptor (TNFRSF16) associated protein 1 0 Interaction with 14-3-3 epsilon (By similarity). apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway cytosol|nucleus caspase regulator activity|metal ion binding NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 CTTATGCCTTGACTCCTGCCA 0.418000 9 42 3.09899e-07 3.27115e-07 1 1 0 EMID1 129080 broad.mit.edu 37 22 29622494 29622494 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr22:29622494G>A ENST00000334018.6 + 5 607 c.419G>A c.(418-420)aGc>aAc p.S140N EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Missense_Mutation_p.S140N|EMID1_ENST00000404820.3_Missense_Mutation_p.S140N NM_001267895.1|NM_133455.3 NP_001254824.1|NP_597712.2 Q96A84 EMID1_HUMAN EMI domain containing 1 138 collagen NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3) 12 CTCAACTGCAGCAAAGTGTCA 0.632000 15 55 0 0 1 0 0 BBS7 55212 broad.mit.edu 37 4 122782704 122782704 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:122782704T>A ENST00000264499.4 - 4 479 c.296A>T c.(295-297)cAg>cTg p.Q99L BBS7_ENST00000506636.1_Missense_Mutation_p.Q99L NM_176824.2 NP_789794.1 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 99 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 GGAGAGGAACTGTTTTCCTCT 0.353000 Bardet-Biedl syndrome 14 57 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55214318 55214318 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:55214318G>A ENST00000275493.2 + 4 621 c.444G>A c.(442-444)gtG>gtA p.V148V EGFR_ENST00000344576.2_Silent_p.V148V|EGFR_ENST00000420316.2_Silent_p.V148V|EGFR_ENST00000454757.2_Silent_p.V95V|EGFR_ENST00000455089.1_Intron|EGFR_ENST00000342916.3_Silent_p.V148V|EGFR_ENST00000442591.1_Silent_p.V148V NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 148 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ATGGCGCCGTGCGGTTCAGCA 0.532000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 15 102 0 0 1 0 0 SNX8 29886 broad.mit.edu 37 7 2311576 2311576 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:2311576C>G ENST00000222990.3 - 4 491 c.449G>C c.(448-450)aGa>aCa p.R150T NM_013321.2 NP_037453.1 Q9Y5X2 SNX8_HUMAN sorting nexin 8 150 PX. cell communication|early endosome to Golgi transport|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3) 26 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14) CTTCAGGGCTCTCCTCCTGGC 0.637000 4 59 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85678145 85678145 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:85678145A>T ENST00000322366.6 - 33 5765 c.5358T>A c.(5356-5358)agT>agA p.S1786R WDFY3_ENST00000295888.4_Missense_Mutation_p.S1786R Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1786 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) CAGGCAGCTCACTAACTGGCT 0.502000 30 214 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40118569 40118569 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr20:40118569C>A ENST00000373233.3 - 12 1706 c.1529G>T c.(1528-1530)gGc>gTc p.G510V CHD6_ENST00000309279.7_Missense_Mutation_p.G510V NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 510 Helicase ATP-binding. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GAGAAAAGGGCCGTGGATTCC 0.493000 27 119 4.59853e-10 4.97239e-10 1 1 0 CNNM4 26504 broad.mit.edu 37 2 97427544 97427544 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:97427544A>T ENST00000377075.2 + 1 906 c.808A>T c.(808-810)Atg>Ttg p.M270L NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 270 DUF21. biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 GTCCGGCCTCATGGCGGTGGC 0.592000 12 176 0 0 1 0 0 LRIG2 9860 broad.mit.edu 37 1 113655277 113655277 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:113655277G>A ENST00000361127.5 + 14 2173 c.1975G>A c.(1975-1977)Gtc>Atc p.V659I LRIG2_ENST00000492207.1_3'UTR NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 Ig-like C2-type 2. cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) CGAGGATGACGTCTTCTTTAT 0.483000 10 56 0 0 1 0 0 ZBTB3 79842 broad.mit.edu 37 11 62521022 62521022 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:62521022G>C ENST00000394807.3 - 2 390 c.265C>G c.(265-267)Cgg>Ggg p.R89G NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 89 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R89G(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 AGCACAGCCCGATGGGCCAAG 0.557000 4 26 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87362131 87362131 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:87362131G>A ENST00000327946.7 - 16 3014 c.2929C>T c.(2929-2931)Cgg>Tgg p.R977W GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.R548W NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 977 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GGGCTCTGCCGGAACAGCCCC 0.667000 Multiple Myeloma(13;0.14) 21 96 0 0 1 0 0 REEP3 221035 broad.mit.edu 37 10 65369972 65369972 + Nonsense_Mutation SNP T T G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:65369972T>G ENST00000373758.4 + 6 626 c.443T>G c.(442-444)tTa>tGa p.L148* REEP3_ENST00000298249.4_Nonsense_Mutation_p.L133* NM_001001330.2 NP_001001330.1 Q6NUK4 REEP3_HUMAN receptor accessory protein 3 148 integral to membrane endometrium(1)|large_intestine(2)|lung(3) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) ACTGAACGTTTAAGAAGCTTC 0.353000 3 10 0 0 1 0 0 DENND4A 10260 broad.mit.edu 37 15 66021464 66021464 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:66021464T>C ENST00000443035.3 - 11 1648 c.1433A>G c.(1432-1434)tAt>tGt p.Y478C DENND4A_ENST00000431932.2_Missense_Mutation_p.Y478C NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 478 DENN. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 TGGAGGATCATAGAGATCAAA 0.393000 5 19 0 0 1 0 0 SLC35B3 51000 broad.mit.edu 37 6 8422784 8422784 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:8422784C>A ENST00000379660.4 - 5 942 c.493G>T c.(493-495)Ggc>Tgc p.G165C SLC35B3_ENST00000339306.5_Missense_Mutation_p.G165C NM_001142540.1|NM_001142541.1|NM_015948.3 NP_001136012.1|NP_001136013.1|NP_057032.2 Q9H1N7 S35B3_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3 165 transmembrane transport Golgi membrane|integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1) 15 Ovarian(93;0.0569) TTCAGGTAGCCCAAGGAAGTG 0.358000 16 66 4.35082e-09 4.65721e-09 1 1 0 ARID5B 84159 broad.mit.edu 37 10 63850916 63850916 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:63850916C>T ENST00000279873.7 + 10 2104 c.1694C>T c.(1693-1695)aCc>aTc p.T565I ARID5B_ENST00000309334.5_Missense_Mutation_p.T322I NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 565 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) CAGCCACTCACCTCTCCTAGT 0.562000 14 62 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174336 63174336 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:63174336G>C ENST00000322893.7 - 11 3125 c.2857C>G c.(2857-2859)Ccc>Gcc p.P953A KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 953 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TGGGATTTGGGAGATGAGGCC 0.463000 19 211 0 0 1 0 0 HNRNPA1 3178 broad.mit.edu 37 12 54675607 54675607 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:54675607C>G ENST00000546500.1 + 3 776 c.161C>G c.(160-162)tCc>tGc p.S54C HNRNPA1_ENST00000330752.8_Missense_Mutation_p.S54C|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.S54C|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.S54C|RP11-968A15.8_ENST00000553061.1_RNA P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 54 Globular A domain.|RRM 1. interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 ACCAAGCGCTCCAGGGGCTTT 0.448000 7 30 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579040 82579040 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:82579040C>T ENST00000333891.9 - 6 11201 c.10864G>A c.(10864-10866)Gtc>Atc p.V3622I PCLO_ENST00000423517.2_Missense_Mutation_p.V3622I|PCLO_ENST00000437081.1_Missense_Mutation_p.V342I NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GAGTAAAGGACTTTGGGGGAT 0.478000 18 99 0 0 1 0 0 PLD3 23646 broad.mit.edu 37 19 40872687 40872687 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:40872687G>A ENST00000409587.1 + 5 507 c.110G>A c.(109-111)cGc>cAc p.R37H PLD3_ENST00000409735.4_Missense_Mutation_p.R37H|PLD3_ENST00000356508.5_Missense_Mutation_p.R37H|PLD3_ENST00000409419.1_Missense_Mutation_p.R37H|PLD3_ENST00000409281.1_Missense_Mutation_p.R37H Q8IV08 PLD3_HUMAN phospholipase D family, member 3 37 lipid catabolic process endoplasmic reticulum membrane|integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248) CAGAAAGCCCGCTGGGTCCTG 0.627000 5 54 0 0 1 0 0 SLC35G1 159371 broad.mit.edu 37 10 95660964 95660964 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:95660964T>C ENST00000371408.3 + 3 873 c.812T>C c.(811-813)gTa>gCa p.V271A SLC35G1_ENST00000427197.1_Missense_Mutation_p.V272A Q2M3R5 TMM20_HUMAN solute carrier family 35, member G1 272 DUF6 2. integral to membrane ATCCTCTCTGTATTAGGAGAG 0.413000 3 70 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30331900 30331900 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr21:30331900C>A ENST00000389194.2 - 13 2616 c.2611G>T c.(2611-2613)Gat>Tat p.D871Y LTN1_ENST00000361371.5_Missense_Mutation_p.D825Y NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 825 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 TAGGCCACATCACAGATAAAA 0.343000 18 102 3.62473e-10 3.92741e-10 1 1 0 COL4A3 1285 broad.mit.edu 37 2 228172496 228172496 + Nonsense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:228172496G>A ENST00000396578.3 + 48 4485 c.4323G>A c.(4321-4323)tgG>tgA p.W1441* AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1441 Epitope recognized by Goodpasture antibodies. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CTGCAACCTGGACAACGAGAG 0.468000 13 88 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51792343 51792343 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:51792343G>C ENST00000251076.5 - 18 3365 c.3078C>G c.(3076-3078)ttC>ttG p.F1026L DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.F1026L NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1026 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) AACATTTCCAGAAGCGTACTT 0.363000 5 108 0 0 1 0 0 DNAJC27 51277 broad.mit.edu 37 2 25180826 25180826 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:25180826G>A ENST00000264711.2 - 4 447 c.258C>T c.(256-258)taC>taT p.Y86Y DNAJC27_ENST00000468467.1_5'UTR|DNAJC27_ENST00000534855.1_Silent_p.Y15Y NM_001198559.1|NM_016544.2 NP_001185488.1|NP_057628.1 Q9NZQ0 DJC27_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 27 86 protein folding|small GTPase mediated signal transduction GTP binding|heat shock protein binding|unfolded protein binding breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 GTGTGTCCTTGTAAAACTCAT 0.418000 6 56 0 0 1 0 0 SCAP 22937 broad.mit.edu 37 3 47458631 47458631 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:47458631G>A ENST00000265565.5 - 18 3449 c.3037C>T c.(3037-3039)Ctg>Ttg p.L1013L SCAP_ENST00000441517.2_Silent_p.L757L|SCAP_ENST00000545718.1_Silent_p.L620L NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 1013 Interaction with SREBF2 (By similarity). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) AAGAACACCAGAGCGGTAATG 0.587000 13 60 0 0 1 0 0 GABRB1 2560 broad.mit.edu 37 4 47427924 47427924 + Silent SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:47427924C>G ENST00000295454.3 + 9 1606 c.1314C>G c.(1312-1314)gtC>gtG p.V438V GABRB1_ENST00000538619.1_Silent_p.V368V NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 438 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGCTCAAAGTCAAGATCCCCG 0.572000 20 157 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 23003016 23003016 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:23003016C>G ENST00000313077.7 + 31 3863 c.3738C>G c.(3736-3738)atC>atG p.I1246M CYFIP1_ENST00000435939.2_Missense_Mutation_p.I815M|CYFIP1_ENST00000560848.1_Missense_Mutation_p.I1246M NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 1246 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) AGCCGCCCATCCACCAGTCCC 0.552000 5 38 0 0 1 0 0 KLHL6 89857 broad.mit.edu 37 3 183217612 183217612 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:183217612T>A ENST00000341319.3 - 4 948 c.913A>T c.(913-915)Att>Ttt p.I305F NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 305 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) CGTTCCGAAATGATCTGGAAA 0.522000 6 42 0 0 1 0 0 EXD1 161829 broad.mit.edu 37 15 41482170 41482170 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:41482170G>T ENST00000314992.5 - 9 1037 c.847C>A c.(847-849)Cgc>Agc p.R283S EXD1_ENST00000458580.2_Missense_Mutation_p.R341S NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 283 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 GACCCTTCGCGATACGTGTTT 0.547000 7 132 2.17888e-05 2.25958e-05 1 1 0 CEP104 9731 broad.mit.edu 37 1 3740058 3740058 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:3740058C>A ENST00000378230.3 - 19 2757 c.2433G>T c.(2431-2433)aaG>aaT p.K811N NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa 811 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 AACGGTAACACTTTCCAAACC 0.507000 10 114 0.000978159 0.00100073 1 1 0 PLEKHH1 57475 broad.mit.edu 37 14 68040539 68040539 + Nonsense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:68040539C>T ENST00000329153.5 + 13 1993 c.1861C>T c.(1861-1863)Caa>Taa p.Q621* NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 621 PH 1. cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) CCGGAAACCTCAAGGCCAAGT 0.502000 7 131 0 0 1 0 0 BPIFB6 128859 broad.mit.edu 37 20 31624294 31624294 + Silent SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr20:31624294G>C ENST00000349552.1 + 7 621 c.621G>C c.(619-621)ctG>ctC p.L207L NM_174897.2 NP_777557.1 Q8NFQ5 BPIL3_HUMAN BPI fold containing family B, member 6 207 extracellular region lipid binding AATATGTTCTGATGTCCGCAC 0.587000 24 319 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 73959821 73959821 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:73959821T>C ENST00000358602.4 - 28 5418 c.5302A>G c.(5302-5304)Act>Gct p.T1768A ANKRD17_ENST00000330838.6_Missense_Mutation_p.T1517A|ANKRD17_ENST00000509867.2_Missense_Mutation_p.T1655A NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 1768 KH. interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CGGTCTCCAGTCTTGTCTTTC 0.358000 139 120 0 0 1 0 0 MIA-RAB4B 100529262 broad.mit.edu 37 19 41281765 41281765 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:41281765G>A ENST00000600729.1 + 3 658 c.236G>A c.(235-237)cGt>cAt p.R79H MIA_ENST00000594436.1_Missense_Mutation_p.R79H|MIA_ENST00000263369.3_Missense_Mutation_p.R79H|MIA_ENST00000597784.1_Missense_Mutation_p.R79H CTGAAGGGCCGTGGGCGGCTC 0.577000 3 86 0 0 1 0 0 HRC 3270 broad.mit.edu 37 19 49657934 49657934 + Silent SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:49657934C>G ENST00000252825.4 - 1 747 c.561G>C c.(559-561)ggG>ggC p.G187G HRC_ENST00000595625.1_Silent_p.G187G NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 187 4 X tandem repeats, acidic.|6 X approximate tandem repeats. muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) CATCATCTTCCCCATCATGGC 0.577000 8 97 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27803662 27803662 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:27803662A>G ENST00000408964.2 + 1 4274 c.4223A>G c.(4222-4224)gAc>gGc p.D1408G NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1408 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) ATCAAAAGAGACAAGAGGTCA 0.488000 28 111 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55872742 55872742 + Nonsense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:55872742C>G ENST00000313503.1 + 1 224 c.224C>G c.(223-225)tCa>tGa p.S75* NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) CTCAGTTACTCAACTGTCGTC 0.438000 HNSCC(53;0.14) 22 485 0 0 1 0 0 PQLC1 80148 broad.mit.edu 37 18 77664069 77664069 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr18:77664069G>A ENST00000397778.2 - 6 905 c.723C>T c.(721-723)gaC>gaT p.D241D PQLC1_ENST00000357575.4_Silent_p.D223D|PQLC1_ENST00000590895.1_5'UTR|PQLC1_ENST00000590381.1_3'UTR|PQLC1_ENST00000409073.1_Silent_p.D158D NM_025078.4 NP_079354.2 Q8N2U9 PQLC1_HUMAN PQ loop repeat containing 1 241 integral to membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 9 Esophageal squamous(42;0.0212)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258) GGATGGCCAGGTCCACCAGCA 0.682000 6 34 0 0 1 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44612226 44612226 + Nonsense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:44612226C>T ENST00000273320.3 + 6 2053 c.1624C>T c.(1624-1626)Cag>Tag p.Q542* RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Nonsense_Mutation_p.Q542*|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.5_ENST00000419137.1_Intron NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 CATTGACCATCAGAGAATCCA 0.453000 15 160 0 0 1 0 0 CLYBL 171425 broad.mit.edu 37 13 100425084 100425084 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:100425084G>A ENST00000376355.3 + 2 100 c.69G>A c.(67-69)gcG>gcA p.A23A CLYBL_ENST00000376360.1_Silent_p.A23A|CLYBL_ENST00000339105.4_Silent_p.A23A|CLYBL_ENST00000444838.2_Silent_p.A23A|CLYBL_ENST00000376354.1_Silent_p.A23A NM_206808.2 NP_996531.1 Q8N0X4 CLYBL_HUMAN citrate lyase beta like 23 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2) 25 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GCAGGAAAGCGTCTCTAGCAG 0.393000 33 174 0 0 1 0 0 OR52K2 119774 broad.mit.edu 37 11 4470668 4470668 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:4470668C>G ENST00000325719.4 + 1 144 c.99C>G c.(97-99)ttC>ttG p.F33L NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) CCATCCCTTTCTGCTTAGCAT 0.517000 18 112 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108201015 108201015 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:108201015G>C ENST00000278616.4 + 50 7767 c.7382G>C c.(7381-7383)cGc>cCc p.R2461P ATM_ENST00000452508.2_Missense_Mutation_p.R2461P|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2461 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GATCGTAAACGCTTCTTATGT 0.388000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 10 44 0 0 1 0 0 CD2BP2 10421 broad.mit.edu 37 16 30365608 30365608 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:30365608C>T ENST00000305596.3 - 3 289 c.114G>A c.(112-114)ggG>ggA p.G38G CD2BP2_ENST00000569466.1_Silent_p.G38G NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 38 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 TAAAGCGGCTCCCAGGACCCC 0.537000 25 362 0 0 1 0 0 PSMB6 5694 broad.mit.edu 37 17 4700748 4700748 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:4700748T>A ENST00000270586.3 + 3 237 c.186T>A c.(184-186)aaT>aaA p.N62K NM_001270481.1|NM_002798.2 NP_001257410.1|NP_002789.1 P28072 PSB6_HUMAN proteasome (prosome, macropain) subunit, beta type, 6 62 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 ACATCGCCAATCGAGTGACTG 0.552000 25 130 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70890760 70890760 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:70890760C>T ENST00000264436.4 - 16 2422 c.1978G>A c.(1978-1980)Gaa>Aaa p.E660K ADD2_ENST00000407644.2_Missense_Mutation_p.E660K|ADD2_ENST00000355733.3_3'UTR NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 CTGAGGATTTCCTCTGCCGTC 0.577000 33 141 0 0 1 0 0 ZNF770 54989 broad.mit.edu 37 15 35275416 35275416 + Nonsense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:35275416G>A ENST00000356321.4 - 3 564 c.220C>T c.(220-222)Caa>Taa p.Q74* NM_014106.3 NP_054825.2 Q6IQ21 ZN770_HUMAN zinc finger protein 770 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1) 29 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) TGAGTTAGTTGATGCCTCTCC 0.358000 12 84 0 0 1 0 0 PMPCA 23203 broad.mit.edu 37 9 139306631 139306631 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:139306631G>C ENST00000371717.3 + 2 263 c.254G>C c.(253-255)gGa>gCa p.G85A PMPCA_ENST00000371720.1_Missense_Mutation_p.G85A|PMPCA_ENST00000399219.3_5'UTR NM_001282946.1|NM_015160.1 NP_001269875.1|NP_055975.1 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 85 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 14 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) AATAAGTTTGGACAGTTTTGT 0.423000 10 277 0 0 1 0 0 SUCO 51430 broad.mit.edu 37 1 172501849 172501849 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:172501849G>T ENST00000367723.4 + 1 361 c.237G>T c.(235-237)agG>agT p.R79S SUCO_ENST00000608151.1_Missense_Mutation_p.R79S NM_016227.2 NP_057311.3 SUN domain containing ossification factor TGGATTCTAGGAGGGACTGGG 0.507000 5 77 0.0215528 0.021675 1 1 0 HCRTR2 3062 broad.mit.edu 37 6 55113489 55113489 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:55113489C>G ENST00000370862.3 + 2 612 c.276C>G c.(274-276)ttC>ttG p.F92L NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 92 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CCAACTACTTCATAGTCAATC 0.453000 6 176 0 0 1 0 0 GPRIN3 285513 broad.mit.edu 37 4 90169257 90169257 + Missense_Mutation SNP C C T rs140505056 TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:90169257C>T ENST00000609438.1 - 2 2523 c.2005G>A c.(2005-2007)Gca>Aca p.A669T GPRIN3_ENST00000333209.4_Missense_Mutation_p.A669T NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) TTGGAGTCTGCGCCAAGCTGC 0.547000 8 53 0 0 1 0 0 TRAV7 28686 broad.mit.edu 37 14 22251588 22251588 + RNA SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:22251588T>C ENST00000390429.3 + 0 205 CAAACACCTATTATCCATGTA 0.458000 11 69 0 0 1 0 0 OR2T1 26696 broad.mit.edu 37 1 248570047 248570047 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:248570047T>C ENST00000366474.1 + 1 752 c.752T>C c.(751-753)gTg>gCg p.V251A NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTGATGTATGTGTGCTGTGTT 0.507000 26 89 0 0 1 0 0 FBF1 85302 broad.mit.edu 37 17 73919617 73919617 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:73919617G>T ENST00000586717.1 - 13 1305 c.1032C>A c.(1030-1032)gaC>gaA p.D344E FBF1_ENST00000389570.4_Missense_Mutation_p.D344E|FBF1_ENST00000319129.5_Missense_Mutation_p.D343E A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 343 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 GGCCCAACCAGTCAGCTCCTC 0.622000 5 13 0.217242 0.217242 1 1 0 ERCC6L2 375748 broad.mit.edu 37 9 98691012 98691012 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:98691012G>A ENST00000288985.7 + 11 1955 c.1650G>A c.(1648-1650)gtG>gtA p.V550V ERCC6L2_ENST00000437817.1_Silent_p.V361V|ERCC6L2_ENST00000466840.1_3'UTR NM_001010895.2 NP_001010895.1 Q5T890 RAD26_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 550 Helicase C-terminal. DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding TGCTTGACGTGCTACAGCAGT 0.393000 22 103 0 0 1 0 0 CPSF7 79869 broad.mit.edu 37 11 61196738 61196738 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:61196738G>A ENST00000340437.4 - 2 179 c.99C>T c.(97-99)atC>atT p.I33I CPSF7_ENST00000439958.3_5'UTR|CPSF7_ENST00000448745.1_5'UTR|CPSF7_ENST00000394888.4_5'UTR|CPSF7_ENST00000541963.1_5'UTR NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 0 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 GAGTCCGGAGGATGGACAAAG 0.507000 6 126 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29293647 29293647 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:29293647C>G ENST00000331664.5 - 1 3480 c.3481G>C c.(3481-3483)Gaa>Caa p.E1161Q NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 1161 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TTCCAGCATTCTGCTGGGTTC 0.622000 3 60 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103270433 103270433 + Nonsense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:103270433C>T ENST00000375735.2 + 84 12343 c.12199C>T c.(12199-12201)Cga>Tga p.R4067* DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.R4074* NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 4067 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TCCTAACGATCGACAAGGATC 0.348000 13 31 0 0 1 0 0 PNMAL2 57469 broad.mit.edu 37 19 46998670 46998670 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:46998670T>C ENST00000599531.1 - 1 1085 c.53A>G c.(52-54)cAc>cGc p.H18R PNMAL2_ENST00000377655.2_Missense_Mutation_p.H18R|AC011484.1_ENST00000377652.3_3'UTR|PNMAL2_ENST00000594749.1_Intron NM_020709.1 NP_065760.1 Q9ULN7 PNML2_HUMAN paraneoplastic Ma antigen family-like 2 18 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) cagggccctgtgcgcgtccac 0.687000 7 59 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48752728 48752728 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:48752728G>A ENST00000285238.8 + 20 2685 c.2605G>A c.(2605-2607)Gaa>Aaa p.E869K ABCC3_ENST00000510891.1_3'UTR NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 869 bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TGCAGCGTTGGAAGGTGCAGA 0.522000 5 84 0 0 1 0 0 INHBE 83729 broad.mit.edu 37 12 57850077 57850077 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:57850077G>A ENST00000266646.2 + 2 715 c.499G>A c.(499-501)Ggc>Agc p.G167S INHBE_ENST00000551553.1_3'UTR NM_031479.3 NP_113667.1 P58166 INHBE_HUMAN inhibin, beta E 167 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 15 CACCAACCTGGGCTGGCATAC 0.577000 OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 87 336 0 0 1 0 0 SP1 6667 broad.mit.edu 37 12 53775912 53775912 + Missense_Mutation SNP T T G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:53775912T>G ENST00000426431.2 + 3 220 c.160T>G c.(160-162)Ttg>Gtg p.L54V SP1_ENST00000327443.4_Missense_Mutation_p.L61V NM_003109.1 NP_003100.1 P08047 SP1_HUMAN Sp1 transcription factor 61 Repressor domain.|Ser/Thr-rich. positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.00527) GCCATCCCCTTTGGCTCTGCT 0.542000 OREG0021870 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 75 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24822144 24822144 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:24822144A>G ENST00000376451.2 + 11 2701 c.2441A>G c.(2440-2442)gAc>gGc p.D814G KIAA1217_ENST00000376462.1_Missense_Mutation_p.D1051G|KIAA1217_ENST00000307544.6_Missense_Mutation_p.D814G|KIAA1217_ENST00000396445.1_Missense_Mutation_p.D814G|KIAA1217_ENST00000376454.3_Missense_Mutation_p.D1131G|KIAA1217_ENST00000458595.1_Missense_Mutation_p.D1096G|KIAA1217_ENST00000396446.1_Missense_Mutation_p.D814G|KIAA1217_ENST00000376452.3_Missense_Mutation_p.D1095G Q5T5P2 SKT_HUMAN KIAA1217 1131 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GAAGAAGGAGACAAAATAATG 0.537000 9 72 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248039733 248039733 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:248039733A>G ENST00000366481.3 + 6 1451 c.1403A>G c.(1402-1404)aAt>aGt p.N468S OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 468 intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGGTCAGGAAATTGGGCATCC 0.448000 26 81 0 0 1 0 0 UEVLD 55293 broad.mit.edu 37 11 18591868 18591868 + Missense_Mutation SNP G G C rs150966697 TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:18591868G>C ENST00000396197.3 - 4 278 c.250C>G c.(250-252)Ccc>Gcc p.P84A UEVLD_ENST00000543987.1_Missense_Mutation_p.P84A|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000379387.4_Missense_Mutation_p.P62A|UEVLD_ENST00000300038.7_Missense_Mutation_p.P84A|UEVLD_ENST00000540666.1_Intron|UEVLD_ENST00000320750.6_Missense_Mutation_p.P62A|UEVLD_ENST00000535484.1_Missense_Mutation_p.P46A NM_001040697.2|NM_001261384.1 NP_001035787.1|NP_001248313.1 Q8IX04 UEVLD_HUMAN UEV and lactate/malate dehyrogenase domains 84 UEV. cellular carbohydrate metabolic process|protein modification process|protein transport binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 CAAATAGGGGGAGCGAAAGGG 0.368000 4 80 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936857 4936857 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:4936857C>T ENST00000322013.3 - 1 65 c.37G>A c.(37-39)Gtt>Att p.V13I MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GTAGCAGAAACGCTGCTGCTG 0.557000 16 72 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62294178 62294178 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:62294178C>G ENST00000378024.4 - 5 7985 c.7711G>C c.(7711-7713)Gag>Cag p.E2571Q AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2571 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATGTTCATCTCTGGCATCTTT 0.473000 19 260 0 0 1 0 0 PCK1 5105 broad.mit.edu 37 20 56136669 56136669 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr20:56136669C>T ENST00000319441.4 + 2 366 c.202C>T c.(202-204)Cgg>Tgg p.R68W PCK1_ENST00000543666.1_5'UTR|PCK1_ENST00000535860.1_5'UTR NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 68 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CATCCTCAGGCGGCTGAAGAA 0.617000 12 110 0 0 1 0 0 LPIN3 64900 broad.mit.edu 37 20 39987108 39987108 + Silent SNP G G A rs145669913 TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr20:39987108G>A ENST00000373257.3 + 19 2428 c.2337G>A c.(2335-2337)ctG>ctA p.L779L LPIN3_ENST00000491528.1_3'UTR NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 779 C-LIP. fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) AGGTGGGCCTGCCTGAGTCAC 0.602000 5 117 0 0 1 0 0 HERC6 55008 broad.mit.edu 37 4 89352340 89352340 + Silent SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:89352340T>A ENST00000380265.5 + 16 2208 c.2025T>A c.(2023-2025)ccT>ccA p.P675P HERC6_ENST00000264346.7_Silent_p.P711P NM_001165136.1 NP_001158608.1 Q8IVU3 HERC6_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 711 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) AAATTTGTCCTGAGTCTGGAG 0.373000 14 118 0 0 1 0 0 RSBN1L 222194 broad.mit.edu 37 7 77326204 77326204 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:77326204C>T ENST00000334955.8 + 1 445 c.418C>T c.(418-420)Cac>Tac p.H140Y NM_198467.2 NP_940869.2 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like nucleus central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CGCTCAGCCTCACCATCTCCT 0.682000 6 51 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123087591 123087591 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:123087591G>A ENST00000333479.7 + 48 5079 c.4902G>A c.(4900-4902)ctG>ctA p.L1634L KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Silent_p.L59L|KNTC1_ENST00000436959.3_5'UTR NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1634 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TGGACACTCTGTACGTGTCTA 0.363000 3 24 0 0 1 0 0 GABRG3 2567 broad.mit.edu 37 15 27725973 27725973 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:27725973G>A ENST00000555083.1 + 6 895 c.752G>A c.(751-753)aGa>aAa p.R251K GABRG3_ENST00000333743.6_Intron NM_001270873.1 NP_001257802.1 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 0 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) TCAAAAGCCAGAGAGGCCTAA 0.413000 3 23 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187541336 187541336 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:187541336A>T ENST00000441802.2 - 10 6613 c.6404T>A c.(6403-6405)aTt>aAt p.I2135N NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2135 Cadherin 19. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTTCAGTGAAATTTCACCCAA 0.423000 HNSCC(5;0.00058) 17 83 0 0 1 0 0 CAPN1 823 broad.mit.edu 37 11 64950985 64950985 + Silent SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:64950985C>G ENST00000527323.1 + 3 618 c.378C>G c.(376-378)ctC>ctG p.L126L CAPN1_ENST00000527469.1_3'UTR|CAPN1_ENST00000533129.1_Silent_p.L126L|CAPN1_ENST00000524773.1_Silent_p.L126L|CAPN1_ENST00000279247.6_Silent_p.L126L|CAPN1_ENST00000533820.1_Silent_p.L126L P07384 CAN1_HUMAN calpain 1, (mu/I) large subunit 126 Calpain catalytic. positive regulation of cell proliferation|proteolysis cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) CCCTCACTCTCAACGACACCC 0.652000 3 97 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 403383 403383 + Splice_Site SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:403383T>A ENST00000256509.2 + 13 1950 c.1308T>A c.(1306-1308)gaT>gaA p.D436E CHL1_ENST00000397491.2_Splice_Site_p.D420E NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 420 Ig-like C2-type 5. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TTCAAATAGATGTCCGTCCAT 0.353000 17 161 0 0 1 0 0 PTPN3 5774 broad.mit.edu 37 9 112151539 112151539 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:112151539A>G ENST00000412145.1 - 17 4387 c.1834T>C c.(1834-1836)Ttg>Ctg p.L612L PTPN3_ENST00000394827.3_Silent_p.L211L|PTPN3_ENST00000497739.1_5'UTR|PTPN3_ENST00000374541.2_Silent_p.L743L|PTPN3_ENST00000262539.3_Silent_p.L589L|PTPN3_ENST00000446349.1_Silent_p.L567L NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 743 negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 AGAGTCGTCAACATGACAATG 0.502000 9 74 0 0 1 0 0 KLHL1 57626 broad.mit.edu 37 13 70535552 70535552 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:70535552G>T ENST00000377844.4 - 3 1464 c.705C>A c.(703-705)gaC>gaA p.D235E KLHL1_ENST00000545028.1_Missense_Mutation_p.D42E NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 235 BTB. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CCGCAAAATAGTCGGAGACTG 0.443000 10 58 6.40141e-05 6.61272e-05 1 1 0 CTGF 1490 broad.mit.edu 37 6 132270442 132270442 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:132270442A>G ENST00000367976.3 - 5 1212 c.1012T>C c.(1012-1014)Tcg>Ccg p.S338P NM_001901.2 NP_001892 P29279 CTGF_HUMAN connective tissue growth factor 338 Heparin-binding. cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding plasma membrane|proteinaceous extracellular matrix heparin binding|insulin-like growth factor binding breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 13 Breast(56;0.0602) GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169) TAGTACAGCGATTCAAAGATG 0.453000 14 109 0 0 1 0 0 ALPI 248 broad.mit.edu 37 2 233321093 233321093 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:233321093G>A ENST00000295463.3 + 2 179 c.102G>A c.(100-102)caG>caA p.Q34Q NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 34 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) GGAACCGCCAGGCAGCTGAGG 0.627000 17 79 0 0 1 0 0 HIST1H4I 8294 broad.mit.edu 37 6 27107349 27107349 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:27107349G>T ENST00000354348.2 + 1 274 c.262G>T c.(262-264)Gtc>Ttc p.V88F HIST1H2BK_ENST00000396891.4_Intron NM_003495.2 NP_003486.1 P62805 H4_HUMAN histone cluster 1, H4i 88 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(1) 1 CATGGACGTGGTCTACGCGCT 0.602000 T BCL6 NHL 10 88 1.05317e-09 1.13418e-09 1 1 0 CASQ1 844 broad.mit.edu 37 1 160165264 160165264 + Missense_Mutation SNP C C G rs141157148 byFrequency TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:160165264C>G ENST00000368079.3 + 5 848 c.573C>G c.(571-573)ttC>ttG p.F191L CASQ1_ENST00000368078.3_Missense_Mutation_p.F197L NM_001231.4 NP_001222.3 P31415 CASQ1_HUMAN calsequestrin 1 (fast-twitch, skeletal muscle) 197 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACAAAGCCTTCGAGGATGCAG 0.557000 6 170 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65271270 65271270 + RNA SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:65271270G>T ENST00000534336.1 + 0 6038 NR_002819.2 GTAACTTTAAGGCAGGAAAGA 0.378000 5 30 1.23904e-05 1.29249e-05 1 1 0 MAN1A1 4121 broad.mit.edu 37 6 119669755 119669755 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:119669755T>C ENST00000368468.3 - 2 917 c.476A>G c.(475-477)cAg>cGg p.Q159R MAN1A1_ENST00000368466.2_Missense_Mutation_p.Q159R NM_005907.3 NP_005898.2 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 159 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) CAGCTGGTCCTGGGCCACCTT 0.652000 9 97 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109672259 109672259 + Splice_Site SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:109672259G>A ENST00000356711.2 + 23 2856 c.2730G>A c.(2728-2730)agG>agA p.R910R MYO16_ENST00000457511.2_Splice_Site_p.R422R|MYO16_ENST00000357550.2_Splice_Site_p.R910R|MYO16_ENST00000251041.5_Splice_Site_p.R910R NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 910 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) ACGCAGGAAGGGTAAGTGGCC 0.448000 10 65 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 147743712 147743712 + Nonsense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:147743712C>G ENST00000370460.2 + 3 943 c.464C>G c.(463-465)tCa>tGa p.S155* AFF2_ENST00000342251.3_Nonsense_Mutation_p.S151*|AFF2_ENST00000370458.1_Nonsense_Mutation_p.S151*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.S151* NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 155 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) AACAGAAAATCAAAACCTGAG 0.463000 23 173 0 0 1 0 0 DIAPH2 1730 broad.mit.edu 37 X 96048627 96048627 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:96048627T>C ENST00000373054.4 + 4 827 c.431T>C c.(430-432)aTt>aCt p.I144T DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373049.4_Intron O60879 DIAP2_HUMAN diaphanous-related formin 2 149 GBD/FH3. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 tcctcacatattaggaagagg 0.448000 9 23 0 0 1 0 0 CLEC4G 339390 broad.mit.edu 37 19 7794268 7794268 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:7794268T>A ENST00000328853.5 - 9 934 c.866A>T c.(865-867)aAa>aTa p.K289I NM_001244856.1|NM_198492.3 NP_001231785.1|NP_940894.1 Q6UXB4 CLC4G_HUMAN C-type lectin domain family 4, member G 289 integral to membrane protein binding|sugar binding breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1) 6 GTTGTGCCTTTTCTCACAGAT 0.622000 7 46 0 0 1 0 0 SCPEP1 59342 broad.mit.edu 37 17 55062817 55062817 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:55062817A>G ENST00000262288.3 + 3 359 c.304A>G c.(304-306)Aaa>Gaa p.K102E SCPEP1_ENST00000571898.1_3'UTR NM_021626.2 NP_067639.1 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 102 proteolysis extracellular region serine-type carboxypeptidase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 14 Breast(9;2.86e-08) CAAACCACGGAAAACCACCTG 0.537000 4 87 0 0 1 0 0 CLMP 79827 broad.mit.edu 37 11 122953891 122953891 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:122953891A>G ENST00000448775.2 - 5 921 c.581T>C c.(580-582)cTg>cCg p.L194P CLMP_ENST00000530371.1_5'UTR NM_024769.2 NP_079045.1 Q9H6B4 CLMP_HUMAN CXADR-like membrane protein 194 Ig-like C2-type 2. integral to membrane|tight junction endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 14 ATTCTGCAGCAGAACTCGTCC 0.443000 11 134 0 0 1 0 0 AMN 81693 broad.mit.edu 37 14 103390133 103390133 + Nonsense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:103390133C>A ENST00000299155.5 + 2 162 c.129C>A c.(127-129)tgC>tgA p.C43* NM_030943.3 NP_112205.2 Q9BXJ7 AMNLS_HUMAN amnion associated transmembrane protein 43 lipid metabolic process|lipoprotein metabolic process|multicellular organismal development integral to membrane|plasma membrane kidney(2)|large_intestine(1)|lung(2)|skin(1) 6 Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGACCCCGTGCGCCGGCGGCG 0.716000 10 48 2.17888e-05 2.25958e-05 1 1 0 DSP 1832 broad.mit.edu 37 6 7586077 7586077 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:7586077C>A ENST00000379802.3 + 24 8923 c.8582C>A c.(8581-8583)tCc>tAc p.S2861Y DSP_ENST00000418664.2_Missense_Mutation_p.S2262Y NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2861 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TACTCTTATTCCTACTCATTT 0.483000 13 172 5.3912e-06 5.66822e-06 1 1 0 ITGA2B 3674 broad.mit.edu 37 17 42462686 42462686 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:42462686A>T ENST00000262407.5 - 5 623 c.592T>A c.(592-594)Tgt>Agt p.C198S ITGA2B_ENST00000353281.4_Missense_Mutation_p.C198S|ITGA2B_ENST00000377068.3_5'UTR NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 198 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) CCCGCTTCACAGTAACGCTTG 0.682000 3 27 0 0 1 0 0 EPHB3 2049 broad.mit.edu 37 3 184299392 184299392 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:184299392G>A ENST00000330394.2 + 16 3431 c.2979G>A c.(2977-2979)acG>acA p.T993T EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 993 integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) TGAACCAGACGCTGCCTGTGC 0.617000 3 29 0 0 1 0 0 MUT 4594 broad.mit.edu 37 6 49416588 49416588 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:49416588C>T ENST00000274813.3 - 7 1512 c.1385G>A c.(1384-1386)gGa>gAa p.G462E NM_000255.3 NP_000246.2 P22033 MUTA_HUMAN methylmalonyl CoA mutase 462 fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 30 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTTAGGTATTCCCTCAGCTAC 0.333000 16 227 0 0 1 0 0 IP6K3 117283 broad.mit.edu 37 6 33690810 33690810 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:33690810C>T ENST00000451316.1 - 7 1455 c.920G>A c.(919-921)cGg>cAg p.R307Q IP6K3_ENST00000293756.4_Missense_Mutation_p.R307Q NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 307 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 GAGGAGGGCCCGGAGCTGGTG 0.552000 12 54 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53636095 53636095 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:53636095C>G ENST00000262135.4 - 25 3694 c.3601G>C c.(3601-3603)Gat>Cat p.D1201H RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.D1247H|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.D1281H NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 1281 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) GCTCGTGCATCAAAAACTAGG 0.423000 5 56 0 0 1 0 0 AGGF1 55109 broad.mit.edu 37 5 76330289 76330289 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:76330289A>G ENST00000312916.7 + 2 639 c.257A>G c.(256-258)aAt>aGt p.N86S AGGF1_ENST00000506806.1_Missense_Mutation_p.N86S|AGGF1_ENST00000503538.1_3'UTR NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 86 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) AATGAAGATAATAAAAAGTCT 0.343000 3 72 0 0 1 0 0 FAM98C 147965 broad.mit.edu 37 19 38896259 38896259 + Nonsense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:38896259G>A ENST00000252530.5 + 6 753 c.734G>A c.(733-735)tGg>tAg p.W245* FAM98C_ENST00000343358.7_Nonsense_Mutation_p.W219*|FAM98C_ENST00000588262.1_Intron NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 245 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GCTTTCCACTGGAGTGACCGG 0.612000 6 71 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133887606 133887606 + Silent SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:133887606G>T ENST00000409261.1 - 6 658 c.285C>A c.(283-285)acC>acA p.T95T NCKAP5_ENST00000405974.3_Silent_p.T95T|NCKAP5_ENST00000409213.1_Silent_p.T95T|NCKAP5_ENST00000317721.6_Silent_p.T95T NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 95 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CAGACTCTAGGGTCACCTCCT 0.478000 5 28 0.014758 0.014898 1 1 0 LHX8 431707 broad.mit.edu 37 1 75622729 75622729 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:75622729C>T ENST00000294638.5 + 9 1626 c.962C>T c.(961-963)aCg>aTg p.T321M LHX8_ENST00000356261.3_Missense_Mutation_p.T311M NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 321 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 CAAGATGGAACGATGTTAACT 0.478000 18 84 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152185716 152185716 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:152185716C>G ENST00000368801.2 - 3 8464 c.8389G>C c.(8389-8391)Ggt>Cgt p.G2797R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2797 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGACTATAACCAGAGGACTGT 0.537000 21 166 0 0 1 0 0 IRAK3 11213 broad.mit.edu 37 12 66605244 66605244 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:66605244C>G ENST00000261233.4 + 5 876 c.455C>G c.(454-456)tCc>tGc p.S152C IRAK3_ENST00000457197.2_Missense_Mutation_p.S91C NM_007199.2 NP_009130.2 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 152 interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) CTTAAATCTTCCATCAGCTTT 0.338000 6 47 0 0 1 0 0 SUN1 23353 broad.mit.edu 37 7 894555 894555 + Splice_Site SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:894555A>G ENST00000456758.2 + 17 1830 c.e17-1 SUN1_ENST00000452783.2_Splice_Site|SUN1_ENST00000389574.3_Splice_Site|SUN1_ENST00000425407.2_Splice_Site|SUN1_ENST00000401592.1_Splice_Site|SUN1_ENST00000405266.1_Splice_Site|SUN1_ENST00000413514.2_Splice_Site O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTCTTTCCTAAGACTGACTTT 0.398000 3 93 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181759626 181759626 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:181759626G>T ENST00000526775.1 + 43 5940 c.5775G>T c.(5773-5775)caG>caT p.Q1925H CACNA1E_ENST00000367573.2_Missense_Mutation_p.Q1944H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Q1925H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.Q1551H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.Q1895H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Q1876H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Q1944H NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1944 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TCTCTCCCCAGGATATATTCC 0.493000 52 106 2.18419e-29 2.47232e-29 1 1 0 VPS13C 54832 broad.mit.edu 37 15 62167121 62167121 + Silent SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:62167121T>C ENST00000261517.5 - 77 10441 c.10368A>G c.(10366-10368)gcA>gcG p.A3456A VPS13C_ENST00000249837.3_Silent_p.A3413A|VPS13C_ENST00000395896.4_Silent_p.A3456A|VPS13C_ENST00000395898.3_Silent_p.A3413A NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 3456 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 CTAACCCCTCTGCAAATTCTT 0.299000 45 220 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96030308 96030308 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:96030308C>G ENST00000297954.4 + 17 3874 c.3874C>G c.(3874-3876)Cga>Gga p.R1292G WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.R1292G|WNK2_ENST00000349097.3_Missense_Mutation_p.R904G|WNK2_ENST00000427277.2_Missense_Mutation_p.R904G NM_001282394.1 NP_001269323.1 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1292 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 TCAGGAGAGCCGACAATCCCA 0.587000 3 42 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30680687 30680687 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:30680687G>A ENST00000376406.3 - 5 1679 c.1032C>T c.(1030-1032)gtC>gtT p.V344V MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.V344V NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 344 Required for nuclear localization (NLS1). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 TCATAGGAATGACAACTGGGG 0.547000 Other conserved DNA damage response genes 18 113 0 0 1 0 0 KIF2A 3796 broad.mit.edu 37 5 61669661 61669661 + Missense_Mutation SNP A A C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:61669661A>C ENST00000381103.2 + 18 2219 c.1734A>C c.(1732-1734)caA>caC p.Q578H KIF2A_ENST00000401507.3_Missense_Mutation_p.Q598H|KIF2A_ENST00000506857.1_Missense_Mutation_p.Q552H|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Missense_Mutation_p.Q636H NM_001243952.1 NP_001230881.1 O00139 KIF2A_HUMAN kinesin heavy chain member 2A 598 blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 15 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) TTTGTGAACAAAATGTGAGTG 0.383000 13 74 0 0 1 0 0 APAF1 317 broad.mit.edu 37 12 99076995 99076995 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:99076995C>T ENST00000357310.1 + 15 2698 c.2121C>T c.(2119-2121)ttC>ttT p.F707F APAF1_ENST00000333991.1_Intron|APAF1_ENST00000550527.1_Silent_p.F696F|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000551964.1_Silent_p.F707F|APAF1_ENST00000359972.2_Silent_p.F696F|APAF1_ENST00000339433.3_Silent_p.F707F|APAF1_ENST00000549007.1_Silent_p.F707F|APAF1_ENST00000547045.1_Silent_p.F707F NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 707 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) GCTGCCATTTCACCAACAGTA 0.383000 19 183 0 0 1 0 0 DDX59 83479 broad.mit.edu 37 1 200617674 200617674 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:200617674C>T ENST00000447706.2 - 7 1640 c.1489G>A c.(1489-1491)Gaa>Aaa p.E497K DDX59_ENST00000367348.3_Missense_Mutation_p.E497K|DDX59_ENST00000331314.6_Missense_Mutation_p.E497K Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 497 Helicase C-terminal. intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3) 21 ACTACAACTTCATAGTCTCCT 0.363000 10 235 0 0 1 0 0 C12orf77 196415 broad.mit.edu 37 12 25148970 25148970 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:25148970G>C ENST00000549828.1 - 3 382 c.178C>G c.(178-180)Cta>Gta p.L60V C12orf77_ENST00000434912.3_Missense_Mutation_p.L5V|C12orf77_ENST00000549262.1_Missense_Mutation_p.L5V NM_001101339.1 NP_001094809.1 C9JDV5 CL097_HUMAN chromosome 12 open reading frame 77 60 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 CCAGTGGGTAGAGAACCCGGC 0.458000 5 42 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1058041 1058041 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:1058041G>C ENST00000263094.6 + 36 5239 c.5008G>C c.(5008-5010)Gag>Cag p.E1670Q ABCA7_ENST00000433129.1_Missense_Mutation_p.E1670Q|ABCA7_ENST00000435683.2_Missense_Mutation_p.E1532Q NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1670 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTTTGTGCTTGAGCTCTTCTC 0.572000 8 93 0 0 1 0 0 ZNF383 163087 broad.mit.edu 37 19 37733704 37733704 + Missense_Mutation SNP A A C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:37733704A>C ENST00000589413.1 + 8 1149 c.566A>C c.(565-567)cAg>cCg p.Q189P ZNF383_ENST00000352998.3_Missense_Mutation_p.Q189P|ZNF383_ENST00000590503.1_Missense_Mutation_p.Q189P Q8NA42 ZN383_HUMAN zinc finger protein 383 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1) 15 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATTCAACATCAGAGAATTCAT 0.338000 4 49 0 0 1 0 0 SLC4A8 9498 broad.mit.edu 37 12 51865155 51865155 + Silent SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:51865155T>C ENST00000453097.2 + 14 1960 c.1743T>C c.(1741-1743)gaT>gaC p.D581D SLC4A8_ENST00000394856.1_Silent_p.D528D|SLC4A8_ENST00000514353.3_Silent_p.D528D|SLC4A8_ENST00000358657.3_Silent_p.D608D|SLC4A8_ENST00000535225.2_Silent_p.D528D|SLC4A8_ENST00000546663.1_3'UTR NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 581 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) TGGCAACTGATGCCAGTTCCC 0.428000 31 146 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42876351 42876351 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:42876351A>G ENST00000025301.2 + 8 3644 c.3469A>G c.(3469-3471)Ata>Gta p.I1157V NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 1157 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) ACAAAATACTATAGAAAAAGA 0.423000 5 115 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26647234 26647234 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:26647234G>A ENST00000381340.3 - 39 5638 c.5222C>T c.(5221-5223)tCa>tTa p.S1741L NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1741 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GTCTGACATTGATATCCCCAT 0.338000 13 53 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103055726 103055726 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:103055726A>G ENST00000375735.2 + 41 6723 c.6579A>G c.(6577-6579)atA>atG p.I2193M DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.I2193M NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2193 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TTAATCTCATAAGGGGACTTG 0.348000 20 53 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51824704 51824704 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:51824704T>A ENST00000371117.3 - 36 6147 c.5872A>T c.(5872-5874)Act>Tct p.T1958S PKHD1_ENST00000340994.4_Missense_Mutation_p.T1958S NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1958 G8 1. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CTTGTGTTAGTGTCCAGCAGA 0.463000 OREG0017492 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 210 0 0 1 0 0 CD79B 974 broad.mit.edu 37 17 62007656 62007656 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:62007656C>T ENST00000006750.3 - 3 300 c.208G>A c.(208-210)Gcc>Acc p.A70T CD79B_ENST00000349817.2_Intron|CD79B_ENST00000392795.3_Missense_Mutation_p.A71T NM_000626.2|NM_021602.2 NP_000617.1|NP_067613.1 P40259 CD79B_HUMAN CD79b molecule, immunoglobulin-associated beta 70 Ig-like V-type. cell surface receptor linked signaling pathway|immune response Golgi apparatus|integral to plasma membrane|nucleus transmembrane receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 15 TTGCCGGAGGCGCTGTTCATG 0.572000 """Mis, O""" DLBCL 5 58 0 0 1 0 0 LARP1B 55132 broad.mit.edu 37 4 129043216 129043216 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:129043216G>C ENST00000326639.6 + 11 1608 c.1397G>C c.(1396-1398)cGa>cCa p.R466P LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000512292.1_Missense_Mutation_p.R466P|LARP1B_ENST00000441387.1_Missense_Mutation_p.R466P|LARP1B_ENST00000427266.1_Missense_Mutation_p.R466P|LARP1B_ENST00000264584.5_Missense_Mutation_p.R419P NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 466 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 GGAGGAGATCGAACAGGCACC 0.368000 19 114 0 0 1 0 0 COMP 1311 broad.mit.edu 37 19 18898425 18898425 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:18898425C>T ENST00000542601.2 - 9 1300 c.911G>A c.(910-912)cGc>cAc p.R304H COMP_ENST00000425807.1_Missense_Mutation_p.R284H|COMP_ENST00000222271.2_Missense_Mutation_p.R337H P49747 COMP_HUMAN cartilage oligomeric matrix protein 337 anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GTCCGTGTTGCGCTGGTCTGG 0.612000 21 160 0 0 1 0 0 PAPOLA 10914 broad.mit.edu 37 14 96998956 96998956 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:96998956T>C ENST00000216277.8 + 9 1026 c.806T>C c.(805-807)gTa>gCa p.V269A PAPOLA_ENST00000392990.2_Missense_Mutation_p.V269A|PAPOLA_ENST00000557320.1_Missense_Mutation_p.V269A NM_032632.4 NP_116021.2 P51003 PAPOA_HUMAN poly(A) polymerase alpha 269 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) TCAACTCTTGTACATAAATTT 0.313000 5 61 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39229444 39229444 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:39229444G>C ENST00000340369.3 - 2 1721 c.1493C>G c.(1492-1494)tCt>tGt p.S498C XIRP1_ENST00000396251.1_Missense_Mutation_p.S498C|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 498 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TCTGCTAACAGAGGTCAGGGC 0.592000 8 167 0 0 1 0 0 ANGEL1 23357 broad.mit.edu 37 14 77255678 77255678 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:77255678G>A ENST00000251089.2 - 10 2018 c.1906C>T c.(1906-1908)Ctc>Ttc p.L636F ANGEL1_ENST00000557179.1_Missense_Mutation_p.L201F NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 636 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) TCTTCAGAGAGAAGGGAGAGA 0.562000 14 169 0 0 1 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32890639 32890639 + RNA SNP T T C rs79284655 TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:32890639T>C ENST00000330048.5 - 0 3159 NR_003083.2 ACCAGCGGCTTGTAGTACACA 0.627000 4 53 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 482240 482240 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:482240C>T ENST00000264938.3 - 8 1398 c.1389G>A c.(1387-1389)ctG>ctA p.L463L SLC9A3_ENST00000514375.1_Silent_p.L454L NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 463 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TCTTCACCTTCAGCCACTGCA 0.701000 9 49 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62292043 62292043 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:62292043C>G ENST00000378024.4 - 5 10120 c.9846G>C c.(9844-9846)aaG>aaC p.K3282N AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3282 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TGTCAGGCATCTTCAGTTTTG 0.428000 6 121 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62292797 62292797 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:62292797C>G ENST00000378024.4 - 5 9366 c.9092G>C c.(9091-9093)aGc>aCc p.S3031T AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3031 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GCCAGGCATGCTGAATTTGGG 0.532000 30 424 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158516772 158516772 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:158516772A>G ENST00000355585.4 + 27 3942 c.3867A>G c.(3865-3867)ccA>ccG p.P1289P SYNJ2_ENST00000367122.2_Silent_p.P1244P|SYNJ2_ENST00000367112.1_Silent_p.P374P NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1289 Pro-rich. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) TTCCCAAACCAAGAACATTTC 0.597000 10 52 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202743773 202743773 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:202743773T>C ENST00000367265.3 - 3 1537 c.373A>G c.(373-375)Agg>Ggg p.R125G KDM5B_ENST00000367264.2_Missense_Mutation_p.R125G NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 125 ARID. negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 AAGATCTTCCTCTCCACATGT 0.358000 17 68 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10705093 10705093 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:10705093T>C ENST00000377022.3 - 18 4066 c.3749A>G c.(3748-3750)tAt>tGt p.Y1250C RP4-734G22.3_ENST00000606802.1_RNA NM_001079843.2 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 1250 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GGTCACAAAATAGCAGCCGGT 0.592000 27 205 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117696896 117696896 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:117696896G>C ENST00000317775.6 - 15 3092 c.2407C>G c.(2407-2409)Cat>Gat p.H803D NOS1_ENST00000338101.4_Missense_Mutation_p.H803D|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 803 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) AGAGTTTCATGTTCCAGGTGC 0.507000 9 102 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39446912 39446912 + Nonsense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:39446912C>T ENST00000280481.7 + 17 8233 c.8017C>T c.(8017-8019)Cga>Tga p.R2673* NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2673 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGTGACCCTTCGAGTCCCTCT 0.438000 21 91 0 0 1 0 0 HUS1 3364 broad.mit.edu 37 7 48015279 48015279 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:48015279A>G ENST00000258774.5 - 5 494 c.471T>C c.(469-471)agT>agC p.S157S HUS1_ENST00000432325.1_Silent_p.S136S NM_004507.3 NP_004498.1 O60921 HUS1_HUMAN HUS1 checkpoint homolog (S. pombe) 157 DNA damage checkpoint|DNA replication Golgi apparatus|nucleolus|nucleoplasm protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1) 13 Breast(660;0.00139) GTAAATAAATACTAACCTACA 0.318000 Direct reversal of damage;Other conserved DNA damage response genes 6 32 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746503 77746503 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:77746503C>G ENST00000409088.3 - 3 906 c.492G>C c.(490-492)ttG>ttC p.L164F LRRTM4_ENST00000409884.1_Missense_Mutation_p.L164F|LRRTM4_ENST00000409911.1_Missense_Mutation_p.L165F|LRRTM4_ENST00000409282.1_Missense_Mutation_p.L165F|LRRTM4_ENST00000409093.1_Missense_Mutation_p.L164F NM_001282928.1|NM_024993.4 NP_001269857.1|NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 164 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) AGTTAGATCTCAAGTGCAAAA 0.413000 8 80 0 0 1 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200821690 200821690 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:200821690G>C ENST00000358823.2 + 12 3757 c.3487G>C c.(3487-3489)Gat>Cat p.D1163H CAMSAP2_ENST00000413307.2_Missense_Mutation_p.D1147H|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.D1174H NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 1174 cytoplasm|microtubule protein binding AGCAGAAAATGATATGGCAAT 0.353000 5 122 0 0 1 0 0 KDM5A 5927 broad.mit.edu 37 12 431654 431654 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:431654C>T ENST00000399788.2 - 17 2717 c.2355G>A c.(2353-2355)agG>agA p.R785R KDM5A_ENST00000382815.4_Silent_p.R785R NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 785 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 TTACAGCATCCCTGAGTTTTC 0.393000 T NUP98 AML 16 143 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123122253 123122253 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:123122253C>T ENST00000264501.4 + 15 1843 c.1470C>T c.(1468-1470)ttC>ttT p.F490F KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Silent_p.F490F|KIAA1109_ENST00000388738.3_Silent_p.F490F Q2LD37 K1109_HUMAN KIAA1109 490 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus p.F490F(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 CTTACCACTTCATCTTTGCAC 0.358000 4 72 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179635334 179635334 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:179635334C>G ENST00000589042.1 - 35 8409 c.8185G>C c.(8185-8187)Gag>Cag p.E2729Q TTN_ENST00000460472.2_Missense_Mutation_p.E2683Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E2729Q|TTN_ENST00000359218.5_Missense_Mutation_p.E2683Q|TTN_ENST00000591111.1_Missense_Mutation_p.E2729Q|TTN_ENST00000342992.6_Missense_Mutation_p.E2729Q|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E2683Q NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2467 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTGTAAGCTCGACAGTGAAA 0.378000 16 136 0 0 1 0 0 LOC148709 148709 broad.mit.edu 37 1 202842810 202842810 + RNA SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:202842810G>T ENST00000456105.2 + 0 762 NR_002929.2 CCCCAGCAAGGTACACAGCCA 0.577000 15 52 6.49762e-13 7.08347e-13 1 1 0 GLUD1P7 414212 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 4 43 0 0 1 0 0 DNM3 26052 broad.mit.edu 37 1 172017833 172017833 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:172017833G>C ENST00000358155.4 + 10 1454 c.1278G>C c.(1276-1278)aaG>aaC p.K426N DNM3_ENST00000367733.2_Missense_Mutation_p.K426N|DNM3_ENST00000355305.5_Missense_Mutation_p.K426N|DNM3_ENST00000520906.1_Missense_Mutation_p.K426N|DNM3_ENST00000367731.1_Missense_Mutation_p.K426N NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 426 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CTTCCTTGAAGAGTGTGGATC 0.383000 7 150 0 0 1 0 0 MTDH 92140 broad.mit.edu 37 8 98703239 98703239 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr8:98703239G>C ENST00000336273.3 + 6 1199 c.871G>C c.(871-873)Gta>Cta p.V291L MTDH_ENST00000519934.1_Missense_Mutation_p.V268L NM_178812.3 NP_848927.2 Q86UE4 LYRIC_HUMAN metadherin 291 lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) TGAAAAGTCTGTAAAACTCTC 0.418000 6 60 0 0 1 0 0 DDN 23109 broad.mit.edu 37 12 49390950 49390950 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:49390950T>C ENST00000421952.2 - 2 1730 c.1709A>G c.(1708-1710)cAc>cGc p.H570R NM_015086.1 NP_055901.2 O94850 DEND_HUMAN dendrin 570 Interaction with CD2AP and NPHS1 (By similarity). dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 TAAGGCTTGGTGCTCTGGGCT 0.726000 11 100 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161470565 161470565 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:161470565G>C ENST00000392142.4 + 3 1409 c.1261G>C c.(1261-1263)Gac>Cac p.D421H MAP3K4_ENST00000366919.2_Missense_Mutation_p.D421H|MAP3K4_ENST00000348824.7_Missense_Mutation_p.D421H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D421H NM_005922.2 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 421 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GAATTTATCAGACATTGGCTG 0.438000 8 71 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142226809 142226809 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:142226809C>T ENST00000350721.4 - 28 5116 c.4995G>A c.(4993-4995)aaG>aaA p.K1665K ATR_ENST00000383101.3_Silent_p.K1601K NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1665 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TATTTTGCTTCTTTTCTGTAA 0.348000 Other conserved DNA damage response genes 8 48 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108355537 108355537 + Silent SNP T T G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:108355537T>G ENST00000361582.3 + 11 1223 c.993T>G c.(991-993)ccT>ccG p.P331P DZIP3_ENST00000463306.1_Silent_p.P331P NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 331 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 GTGATGTACCTGGAATTGTTA 0.318000 28 169 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51171247 51171247 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:51171247C>T ENST00000440970.1 - 3 3891 c.3460G>A c.(3460-3462)Gag>Aag p.E1154K SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Missense_Mutation_p.E74K|SALL1_ENST00000251020.4_Missense_Mutation_p.E1251K NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1251 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ACGGAGATCTCGTTGGCCTTC 0.572000 10 81 0 0 1 0 0 BORA 79866 broad.mit.edu 37 13 73305498 73305498 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:73305498G>C ENST00000390667.5 + 3 330 c.233G>C c.(232-234)cGt>cCt p.R78P BORA_ENST00000464754.1_3'UTR|BORA_ENST00000377815.3_Intron NM_024808.2 NP_079084.2 Q6PGQ7 BORA_HUMAN bora, aurora kinase A activator 78 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding GATATTCATCGTCAAGCTTTA 0.353000 5 95 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20975225 20975225 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:20975225A>G ENST00000261383.3 - 53 9980 c.9981T>C c.(9979-9981)aaT>aaC p.N3327N DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3327 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GCATGTAGAGATTTATGAACC 0.488000 10 127 0 0 1 0 0 LTF 4057 broad.mit.edu 37 3 46480933 46480933 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:46480933C>T ENST00000231751.4 - 15 2057 c.1762G>A c.(1762-1764)Gca>Aca p.A588T LTF_ENST00000417439.1_Missense_Mutation_p.A586T|LTF_ENST00000426532.2_Missense_Mutation_p.A544T|LTF_ENST00000493056.1_5'UTR NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 588 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) GCAAAGTCTGCCAGCTTCAAA 0.542000 10 48 0 0 1 0 0 AHI1 54806 broad.mit.edu 37 6 135787429 135787429 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:135787429T>C ENST00000367800.4 - 5 488 c.272A>G c.(271-273)aAg>aGg p.K91R AHI1_ENST00000457866.2_Missense_Mutation_p.K91R|AHI1_ENST00000327035.6_Missense_Mutation_p.K91R NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 91 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) CGTGCTCTTCTTCAGGTTGTT 0.393000 27 229 0 0 1 0 0 COL6A5 256076 broad.mit.edu 37 3 130174321 130174321 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:130174321G>C ENST00000265379.6 + 37 7095 c.6601G>C c.(6601-6603)Gat>Cat p.D2201H COL6A5_ENST00000432398.2_Missense_Mutation_p.D2201H A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 2201 Nonhelical region. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 GCTACAAGAGGATTTTTTGGG 0.343000 3 39 0 0 1 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42157356 42157356 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr20:42157356A>G ENST00000444063.1 + 5 784 c.652A>G c.(652-654)Att>Gtt p.I218V L3MBTL1_ENST00000418998.1_Missense_Mutation_p.I286V|L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.I218V|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.I286V|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.I218V Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 218 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 GCAGAAGGCCATTACTGCTCC 0.557000 12 84 0 0 1 0 0 MTX2 10651 broad.mit.edu 37 2 177161616 177161616 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:177161616A>G ENST00000392529.2 + 3 444 c.39A>G c.(37-39)acA>acG p.T13T MTX2_ENST00000443241.1_Intron|MTX2_ENST00000249442.6_Silent_p.T23T O75431 MTX2_HUMAN metaxin 2 23 protein targeting to mitochondrion mitochondrial outer membrane breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181) AAAATGCTACATTATATCAGC 0.313000 21 150 0 0 1 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75407279 75407279 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:75407279G>C ENST00000394810.2 - 4 2280 c.2131C>G c.(2131-2133)Ccc>Gcc p.P711A SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P487A NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 711 Pro-rich. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) GGGGTCTTGGGAGCCATTGGA 0.627000 31 133 0 0 1 0 0 PHF20 51230 broad.mit.edu 37 20 34457364 34457364 + Nonsense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr20:34457364G>T ENST00000439301.1 + 8 859 c.748G>T c.(748-750)Gga>Tga p.G250* PHF20_ENST00000374012.3_Silent_p.V271V|PHF20_ENST00000481202.1_3'UTR NM_016436.4 NP_057520.2 Q9BVI0 PHF20_HUMAN PHD finger protein 20 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) TGGTAGCTGTGGATTCAAACT 0.303000 14 68 3.27435e-08 3.48391e-08 1 1 0 IRX6 79190 broad.mit.edu 37 16 55360337 55360337 + Silent SNP C C G rs139857215 byFrequency TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:55360337C>G ENST00000290552.7 + 2 1467 c.135C>G c.(133-135)ccC>ccG p.P45P RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 45 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCCCAGCGCCCGCTCTCTGCT 0.637000 7 61 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24135280 24135280 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:24135280T>C ENST00000303531.7 + 9 1195 c.1043T>C c.(1042-1044)cTg>cCg p.L348P PRKCB_ENST00000321728.7_Missense_Mutation_p.L348P NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 348 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) CTAATGGTGCTGGGGAAAGGC 0.468000 5 166 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152536298 152536298 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:152536298A>G ENST00000397345.3 - 32 3394 c.3192T>C c.(3190-3192)taT>taC p.Y1064Y NEB_ENST00000427231.2_Silent_p.Y1064Y|NEB_ENST00000409198.1_Silent_p.Y1064Y|NEB_ENST00000172853.10_Silent_p.Y1064Y|NEB_ENST00000604864.1_Silent_p.Y1064Y|NEB_ENST00000603639.1_Silent_p.Y1064Y NM_001164508.1 NP_001157980 P20929 NEBU_HUMAN nebulin 1064 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTCTCAGGTCATATCCCTTCT 0.443000 10 117 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28828806 28828806 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:28828806G>T ENST00000422425.2 + 41 3059 c.3015G>T c.(3013-3015)tgG>tgT p.W1005C PLB1_ENST00000541605.1_Intron|PLB1_ENST00000327757.5_Missense_Mutation_p.W1016C NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 1016 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) GAGCCCTTTGGACCAATATGG 0.522000 24 185 6.12954e-19 6.83629e-19 1 1 0 FCGBP 8857 broad.mit.edu 37 19 40366268 40366268 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:40366268G>C ENST00000221347.6 - 30 13973 c.13966C>G c.(13966-13968)Cca>Gca p.P4656A NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4656 VWFD 11. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGCTGCTCTGGGGTGCACGGC 0.741000 5 88 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47746494 47746494 + Nonsense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:47746494G>A ENST00000273857.4 - 5 723 c.724C>T c.(724-726)Cag>Tag p.Q242* CORIN_ENST00000505909.1_Nonsense_Mutation_p.Q242*|CORIN_ENST00000502252.1_Nonsense_Mutation_p.Q175*|CORIN_ENST00000504584.1_Nonsense_Mutation_p.Q242*|CORIN_ENST00000508498.1_Nonsense_Mutation_p.Q103* NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 242 FZ 1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 TTTCTAAACTGGGAGCATCTG 0.473000 11 335 0 0 1 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10524885 10524885 + Missense_Mutation SNP T T G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:10524885T>G ENST00000396560.2 + 3 635 c.408T>G c.(406-408)gaT>gaG p.D136E ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.D136E|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.D136E|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.D136E NM_024997.3 NP_079273.2 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting protein 2 136 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 AGGCAAAAGATTCACTGAACA 0.413000 27 103 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79960014 79960014 + Silent SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:79960014C>G ENST00000360280.3 + 52 7505 c.7245C>G c.(7243-7245)ctC>ctG p.L2415L VPS13A_ENST00000357409.5_Silent_p.L2415L|VPS13A_ENST00000376634.4_Silent_p.L2415L|VPS13A_ENST00000376636.3_Silent_p.L2376L NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 2415 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CTACATTCCTCTTAATAAATC 0.343000 14 131 0 0 1 0 0 TEAD1 7003 broad.mit.edu 37 11 12901332 12901332 + Silent SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:12901332T>A ENST00000361905.4 + 6 1028 c.363T>A c.(361-363)atT>atA p.I121I TEAD1_ENST00000527636.1_Silent_p.I136I|TEAD1_ENST00000361985.2_Silent_p.I136I|TEAD1_ENST00000334310.6_Silent_p.I125I|TEAD1_ENST00000526600.1_Silent_p.I40I|TEAD1_ENST00000527575.1_Silent_p.I136I NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) 136 hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) CCACTGCCATTCATAACAAGC 0.597000 5 106 0 0 1 0 0 OR1L1 26737 broad.mit.edu 37 9 125424441 125424441 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:125424441C>A ENST00000373686.1 + 1 597 c.597C>A c.(595-597)ttC>ttA p.F199L OR1L1_ENST00000309623.1_Missense_Mutation_p.F149L Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 TTCTCTCCTTCTGCATTCCAC 0.463000 51 373 6.4685e-43 7.3374e-43 1 1 0 SCRG1 11341 broad.mit.edu 37 4 174312370 174312370 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:174312370C>T ENST00000296506.3 - 2 678 c.196G>A c.(196-198)Gag>Aag p.E66K NM_007281.2 NP_009212.1 O75711 SCRG1_HUMAN stimulator of chondrogenesis 1 nervous system development extracellular space large_intestine(1)|lung(4)|skin(1) 6 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919) CAGATCATCTCACATCCCTTC 0.438000 11 228 0 0 1 0 0 HTRA2 27429 broad.mit.edu 37 2 74757342 74757342 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:74757342C>T ENST00000258080.3 + 1 839 c.209C>T c.(208-210)gCa>gTa p.A70V HTRA2_ENST00000352222.3_Missense_Mutation_p.A70V|HTRA2_ENST00000467961.1_Intron NM_013247.4 NP_037379.1 O43464 HTRA2_HUMAN HtrA serine peptidase 2 70 apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 GAACCCCGAGCATGCCTGACG 0.657000 4 14 0 0 1 0 0 ING5 84289 broad.mit.edu 37 2 242662468 242662468 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:242662468G>A ENST00000313552.6 + 6 623 c.597G>A c.(595-597)atG>atA p.M199I ING5_ENST00000406941.1_Missense_Mutation_p.M199I NM_032329.4 NP_115705.2 Q8WYH8 ING5_HUMAN inhibitor of growth family, member 5 199 DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding large_intestine(1)|lung(1)|skin(1) 3 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) ATGGGGAGATGATTGGCTGTG 0.602000 5 82 0 0 1 0 0 PTPN3 5774 broad.mit.edu 37 9 112189306 112189306 + Nonsense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:112189306G>A ENST00000412145.1 - 7 3085 c.532C>T c.(532-534)Cag>Tag p.Q178* PTPN3_ENST00000374541.2_Nonsense_Mutation_p.Q309*|PTPN3_ENST00000262539.3_Nonsense_Mutation_p.Q200*|PTPN3_ENST00000446349.1_Nonsense_Mutation_p.Q178* NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 309 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 TTCTTTGCCTGAAAGAACGTA 0.448000 6 104 0 0 1 0 0 UFM1 51569 broad.mit.edu 37 13 38924164 38924164 + Translation_Start_Site SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:38924164A>T ENST00000379649.1 + 0 100 UFM1_ENST00000239878.4_Missense_Mutation_p.T11S P61960 UFM1_HUMAN ubiquitin-fold modifier 1 protein ufmylation cytoplasm|nucleus protein binding lung(2)|ovary(1) 3 Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132) GATCACGCTGACGTCGGACCC 0.582000 19 126 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174651 63174651 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:63174651C>G ENST00000322893.7 - 11 2810 c.2542G>C c.(2542-2544)Gat>Cat p.D848H KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 848 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTCTCTGAATCACTGCTCTTG 0.438000 12 117 0 0 1 0 0 ZBTB38 253461 broad.mit.edu 37 3 141163550 141163550 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:141163550A>G ENST00000514251.1 + 4 2599 c.2320A>G c.(2320-2322)Att>Gtt p.I774V ZBTB38_ENST00000321464.5_Missense_Mutation_p.I775V|ZBTB38_ENST00000441582.2_Missense_Mutation_p.I774V Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 774 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 ACCCAAAAGCATTAAGGAGAA 0.468000 6 39 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89401134 89401134 + Missense_Mutation SNP T T C rs147886342 by1000genomes TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:89401134T>C ENST00000439576.2 + 12 5692 c.5318T>C c.(5317-5319)cTt>cCt p.L1773P ACAN_ENST00000559004.1_Missense_Mutation_p.L1773P|ACAN_ENST00000561243.1_Missense_Mutation_p.L1773P|ACAN_ENST00000352105.7_Missense_Mutation_p.L1773P NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1773 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TCTGGAGTTCTTTATGGCACT 0.512000 3 50 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 88055794 88055794 + Silent SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:88055794T>C ENST00000307808.6 + 19 3879 c.3459T>C c.(3457-3459)ctT>ctC p.L1153L AFF1_ENST00000544085.1_Silent_p.L792L|AFF1_ENST00000395146.4_Silent_p.L1161L NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 1153 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) CCCATGTTCTTACCGCCTTTG 0.512000 4 218 0 0 1 0 0 TOP3B 8940 broad.mit.edu 37 22 22314027 22314027 + Missense_Mutation SNP C C T rs138357708 TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr22:22314027C>T ENST00000398793.2 - 15 2170 c.1736G>A c.(1735-1737)cGc>cAc p.R579H TOP3B_ENST00000413067.2_3'UTR|TOP3B_ENST00000357179.5_Missense_Mutation_p.R579H NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 579 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) CAGGACCTGGCGGTAGTCGGC 0.622000 20 211 0 0 1 0 0 SRR 63826 broad.mit.edu 37 17 2221250 2221250 + Silent SNP A A C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:2221250A>C ENST00000344595.5 + 3 573 c.255A>C c.(253-255)ggA>ggC p.G85G SRR_ENST00000576848.1_Intron NM_021947.1 NP_068766.1 Q9GZT4 SRR_HUMAN serine racemase 85 D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide cytoplasm|neuronal cell body|soluble fraction ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) ACAGCAGTGGAAACCATGGCC 0.468000 22 104 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41347486 41347486 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:41347486T>A ENST00000361937.3 - 18 2571 c.2147A>T c.(2146-2148)gAc>gTc p.D716V INO80_ENST00000401393.3_Missense_Mutation_p.D716V Q9ULG1 INO80_HUMAN INO80 complex subunit 716 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GCTCTCAATGTCCTTGGAAAA 0.378000 16 76 0 0 1 0 0 LMOD2 442721 broad.mit.edu 37 7 123302814 123302814 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:123302814T>C ENST00000458573.2 + 2 1331 c.1174T>C c.(1174-1176)Tct>Cct p.S392P LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 392 Pro-rich. cytoskeleton actin binding|tropomyosin binding ACCTTATGTATCTCCCAGGCA 0.537000 13 90 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51750145 51750145 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:51750145G>A ENST00000395052.3 + 4 2590 c.2356G>A c.(2356-2358)Gac>Aac p.D786N GRM2_ENST00000442933.2_Missense_Mutation_p.D508N|GRM2_ENST00000475478.1_3'UTR NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 786 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CACCTCCAGTGACTACCGGGT 0.532000 4 68 0 0 1 0 0 TPM3 7170 broad.mit.edu 37 1 154141837 154141837 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:154141837C>T ENST00000328159.4 - 8 686 c.687G>A c.(685-687)ctG>ctA p.L229L TPM3_ENST00000368533.3_Intron|TPM3_ENST00000341485.5_Intron|TPM3_ENST00000330188.9_Intron|TPM3_ENST00000323144.7_Intron|TPM3_ENST00000469717.1_Intron|TPM3_ENST00000271850.7_Intron|TPM3_ENST00000302206.5_Intron|TPM3_ENST00000341372.3_Intron|TPM3_ENST00000368531.2_Intron|TPM3_ENST00000368530.2_Silent_p.L266L P06753 TPM3_HUMAN tropomyosin 3 265 cellular component movement|muscle filament sliding|regulation of muscle contraction cytosol|muscle thin filament tropomyosin|stress fiber actin binding TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33) breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) CCTTGTACTTCAGTTTCTGGG 0.517000 T """NTRK1, ALK, ROS1""" """papillary thyroid, ALCL, NSCLC""" 8 131 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57103764 57103764 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:57103764G>T ENST00000436936.1 + 37 4805 c.4580G>T c.(4579-4581)tGt>tTt p.C1527F NLRC5_ENST00000262510.6_Missense_Mutation_p.V1506L|NLRC5_ENST00000308149.7_Missense_Mutation_p.V1477L|NLRC5_ENST00000539144.1_Missense_Mutation_p.V1477L Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 0 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CTCCAGCTGTGTGAGCACCGA 0.637000 5 20 0.000274275 0.000281688 1 1 0 DNAH5 1767 broad.mit.edu 37 5 13901509 13901509 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:13901509T>C ENST00000265104.4 - 14 2008 c.1904A>G c.(1903-1905)cAt>cGt p.H635R NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 635 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTGAATCCTATGGAAGAGCTG 0.507000 Kartagener syndrome 6 39 0 0 1 0 0 SMC1B 27127 broad.mit.edu 37 22 45802460 45802460 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr22:45802460C>T ENST00000357450.4 - 4 495 c.496G>A c.(496-498)Gga>Aga p.G166R SMC1B_ENST00000404354.3_Missense_Mutation_p.G166R NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 166 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TCATATTCTCCTATAAGCTCT 0.363000 5 57 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73812092 73812092 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:73812092G>A ENST00000332687.6 - 4 1276 c.1058C>T c.(1057-1059)aCt>aTt p.T353I RLIM_ENST00000349225.2_Missense_Mutation_p.T353I NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 353 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ATAGGTGACAGTGTTGTTTGG 0.468000 14 44 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49433004 49433004 + Splice_Site SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:49433004C>A ENST00000301067.7 - 33 8366 c.e33+1 NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.?(2) TGGAGCCTCACCGGCTGTTCA 0.562000 27 143 9.8876e-21 1.10741e-20 1 1 0 PLEKHG1 57480 broad.mit.edu 37 6 151152027 151152027 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:151152027G>A ENST00000367328.1 + 16 2092 c.1780G>A c.(1780-1782)Gag>Aag p.E594K PLEKHG1_ENST00000358517.2_Missense_Mutation_p.E594K NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 594 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GGGACAGATGGAGTCCACAGA 0.532000 7 131 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197427591 197427591 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:197427591C>T ENST00000273582.5 - 7 1519 c.974G>A c.(973-975)cGc>cAc p.R325H KIAA0226_ENST00000296343.5_Missense_Mutation_p.R385H|KIAA0226_ENST00000449205.1_Missense_Mutation_p.R385H|KIAA0226_ENST00000389665.5_Missense_Mutation_p.R385H NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 385 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) GCTGGACCTGCGGAGGACACT 0.577000 22 85 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82451794 82451794 + Nonstop_Mutation SNP T T G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:82451794T>G ENST00000423517.2 - 20 15145 c.14808A>C c.(14806-14808)taA>taC p.*4936Y PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.9_Intron NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 0 C2 2. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCTGAGGAATTTATTTGCGTC 0.498000 11 151 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7044769 7044769 + Nonsense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr18:7044769G>A ENST00000389658.3 - 7 1021 c.928C>T c.(928-930)Cag>Tag p.Q310* NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 310 Laminin EGF-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGGGCTGCTGATGGTACCCA 0.478000 28 176 0 0 1 0 0 CCDC8 83987 broad.mit.edu 37 19 46915949 46915949 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:46915949C>A ENST00000307522.3 - 1 892 c.119G>T c.(118-120)cGg>cTg p.R40L NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 40 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) ctgggtcagccgctcccgaaa 0.647000 10 107 5.50884e-06 5.78048e-06 1 1 0 FAM154B 283726 broad.mit.edu 37 15 82575106 82575106 + Silent SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:82575106T>C ENST00000339465.5 + 3 969 c.900T>C c.(898-900)atT>atC p.I300I FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Silent_p.I285I NM_001008226.1 NP_001008227.1 Q658L1 F154B_HUMAN family with sequence similarity 154, member B 300 autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2) 19 AAGGACTTATTAAGAAGCAGC 0.398000 16 74 0 0 1 0 0 CHRDL2 25884 broad.mit.edu 37 11 74422031 74422031 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:74422031G>C ENST00000376332.3 - 4 791 c.295C>G c.(295-297)Cac>Gac p.H99D CHRDL2_ENST00000263671.5_Missense_Mutation_p.H99D|CHRDL2_ENST00000534159.1_5'UTR NM_001278473.1 NP_001265402.1 Q6WN34 CRDL2_HUMAN chordin-like 2 99 cartilage development|cell differentiation|ossification extracellular region|mitochondrion endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2) 15 Hepatocellular(1;0.098) GAGGGAGTGTGAGGTTCTGCA 0.517000 7 54 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34640674 34640674 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:34640674C>T ENST00000537011.1 + 3 987 c.605C>T c.(604-606)cCc>cTc p.P202L NUTM1_ENST00000333756.4_Missense_Mutation_p.P174L|NUTM1_ENST00000438749.3_Missense_Mutation_p.P192L NM_001284292.1 NP_001271221.1 NUT midline carcinoma, family member 1 CCCATTGTGCCCCTGGAAAAA 0.597000 3 26 0 0 1 0 0 ZNF492 57615 broad.mit.edu 37 19 22836772 22836772 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:22836772G>C ENST00000456783.2 + 3 329 c.85G>C c.(85-87)Gaa>Caa p.E29Q NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 29 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) GCAAGGAAAAGAACCTTGGAA 0.423000 7 160 0 0 1 0 0 TMPO 7112 broad.mit.edu 37 12 98926631 98926631 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:98926631C>G ENST00000266732.4 + 4 834 c.596C>G c.(595-597)tCc>tGc p.S199C TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000393053.2_Intron NM_003276.2 NP_003267.1 P42167 LAP2B_HUMAN thymopoietin 0 NAKAP95-binding N.|Nucleoplasmic (Potential). integral to membrane|nuclear inner membrane DNA binding|lamin binding breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AAAGTGAAGTCCACTAGGGAT 0.413000 8 162 0 0 1 0 0 PIP5KL1 138429 broad.mit.edu 37 9 130691967 130691967 + Splice_Site SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:130691967C>A ENST00000388747.4 - 2 272 c.228G>T c.(226-228)acG>acT p.T76T NM_001135219.1 NP_001128691.1 Q5T9C9 PI5L1_HUMAN phosphatidylinositol-4-phosphate 5-kinase-like 1 76 PIPK. cytoplasm|membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1) 8 GGCCACTCACCGTGGGTGGGT 0.602000 4 17 0.217242 0.217242 1 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651116 84651116 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:84651116G>T ENST00000286744.5 + 21 2960 c.2736G>T c.(2734-2736)aaG>aaT p.K912N ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.K912N NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 912 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GGGAAGAGAAGCGTATTAACC 0.468000 8 99 0.000157383 0.00016195 1 1 0 PTPRR 5801 broad.mit.edu 37 12 71139613 71139613 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:71139613A>G ENST00000283228.2 - 6 1444 c.992T>C c.(991-993)aTa>aCa p.I331T PTPRR_ENST00000549308.1_Missense_Mutation_p.I86T|PTPRR_ENST00000378778.1_Missense_Mutation_p.I125T|PTPRR_ENST00000342084.4_Missense_Mutation_p.I219T|PTPRR_ENST00000440835.2_Missense_Mutation_p.I86T NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 331 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) TTGAAGTCCTATGGGCTTCAT 0.423000 5 49 0 0 1 0 0 DCAF11 80344 broad.mit.edu 37 14 24588376 24588376 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:24588376G>C ENST00000446197.3 + 9 1529 c.802G>C c.(802-804)Gtc>Ctc p.V268L DCAF11_ENST00000396936.1_Missense_Mutation_p.V168L|DCAF11_ENST00000396941.4_Missense_Mutation_p.V242L|DCAF11_ENST00000559115.1_Missense_Mutation_p.V268L NM_025230.4 NP_079506.3 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 268 CUL4 RING ubiquitin ligase complex protein binding TCGCTTTGCTGTCTTCTCCAT 0.463000 17 155 0 0 1 0 0 TRPC4AP 26133 broad.mit.edu 37 20 33593524 33593524 + Missense_Mutation SNP C C T rs143166417 byFrequency TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr20:33593524C>T ENST00000252015.2 - 16 1999 c.1910G>A c.(1909-1911)cGa>cAa p.R637Q TRPC4AP_ENST00000432634.2_Missense_Mutation_p.R598Q|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.R629Q|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.R239Q Q8TEL6 TP4AP_HUMAN transient receptor potential cation channel, subfamily C, member 4 associated protein 637 protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(18;0.00936) GTTTTCAAATCGGTCCAGGGA 0.507000 13 108 0 0 1 0 0 PADI2 11240 broad.mit.edu 37 1 17395638 17395638 + Silent SNP G G A rs61731909 TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:17395638G>A ENST00000375486.4 - 16 1962 c.1899C>T c.(1897-1899)gaC>gaT p.D633D PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Silent_p.D517D NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 633 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) CAGAAATGTCGTCGATGAAGG 0.597000 19 173 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29049227 29049227 + Silent SNP T T G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr18:29049227T>G ENST00000257189.4 + 12 1895 c.1812T>G c.(1810-1812)ccT>ccG p.P604P NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 604 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CCACAAGCCCTGGGACCAGGT 0.592000 7 91 0 0 1 0 0 BTK 695 broad.mit.edu 37 X 100617587 100617587 + Missense_Mutation SNP T T G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:100617587T>G ENST00000308731.7 - 6 645 c.482A>C c.(481-483)aAt>aCt p.N161T BTK_ENST00000372880.1_Missense_Mutation_p.N161T NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 161 calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 GCCCATAGCATTTTTGGCTGT 0.448000 Agammaglobulinemia, X-linked 46 84 0 0 1 0 0 HAL 3034 broad.mit.edu 37 12 96370219 96370219 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:96370219G>A ENST00000261208.3 - 20 2189 c.1821C>T c.(1819-1821)ctC>ctT p.L607L HAL_ENST00000538703.1_Intron|HAL_ENST00000541929.1_Silent_p.L399L NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 607 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) TCTGCTCCAGGAGCAGCCTGT 0.507000 19 96 0 0 1 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138198260 138198260 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:138198260G>A ENST00000237289.4 + 6 919 c.853G>A c.(853-855)Gac>Aac p.D285N TNFAIP3_ENST00000485192.1_3'UTR NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 285 TRAF-binding. anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) AAGATTTGAAGACTTAAAAGT 0.373000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 11 98 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3746382 3746382 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:3746382C>T ENST00000324932.7 - 15 2218 c.1798G>A c.(1798-1800)Gat>Aat p.D600N NUP98_ENST00000397007.4_Missense_Mutation_p.D617N|NUP98_ENST00000397004.4_Missense_Mutation_p.D600N|NUP98_ENST00000355260.3_Missense_Mutation_p.D600N|NUP98_ENST00000359171.4_Missense_Mutation_p.D600N NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 617 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TTTTCTGAATCACGATTAACA 0.328000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 7 57 0 0 1 0 0 GSK3B 2932 broad.mit.edu 37 3 119720941 119720941 + Silent SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:119720941T>C ENST00000264235.8 - 2 1216 c.234A>G c.(232-234)tcA>tcG p.S78S GSK3B_ENST00000316626.5_Silent_p.S78S NM_001146156.1|NM_002093.3 NP_001139628.1|NP_002084.2 P49841 GSK3B_HUMAN glycogen synthase kinase 3 beta 78 Protein kinase. axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding endometrium(1)|large_intestine(8)|lung(7)|prostate(2) 18 GBM - Glioblastoma multiforme(114;0.24) Lithium(DB01356) CCAGTTCTCCTGAATCACAAA 0.398000 42 224 0 0 1 0 0 FZD1 8321 broad.mit.edu 37 7 90894816 90894816 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:90894816C>T ENST00000287934.2 + 1 1034 c.621C>T c.(619-621)ttC>ttT p.F207F NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 207 FZ. autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) AGTTCGGCTTCCAGTGGCCAG 0.701000 15 75 0 0 1 0 0 TMEM225 338661 broad.mit.edu 37 11 123753928 123753928 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:123753928T>C ENST00000375026.2 - 4 811 c.595A>G c.(595-597)Atg>Gtg p.M199V NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 199 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 CTACGAGGCATTGCAGTGCAT 0.418000 3 83 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101882763 101882763 + Silent SNP G G T rs140169027 TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:101882763G>T ENST00000360264.3 + 23 3839 c.3819G>T c.(3817-3819)gcG>gcT p.A1273A CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Silent_p.A1206A|CUX1_ENST00000546411.2_Silent_p.A1160A|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Silent_p.A1240A|CUX1_ENST00000292535.7_Silent_p.A1262A|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.A1104A NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 1262 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 TGAAACGAGCGTATCAGCAAA 0.597000 28 87 2.61193e-14 2.85915e-14 1 1 0 FAM65A 79567 broad.mit.edu 37 16 67576933 67576933 + Silent SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:67576933G>T ENST00000540839.3 + 14 2524 c.2304G>T c.(2302-2304)acG>acT p.T768T FAM65A_ENST00000422602.2_Silent_p.T768T|FAM65A_ENST00000042381.4_Silent_p.T748T|FAM65A_ENST00000379312.3_Silent_p.T752T|FAM65A_ENST00000428437.2_Silent_p.T762T Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 752 cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) CAGAGTCTACGGTTCAGAGTC 0.622000 48 187 3.4597e-24 3.89949e-24 1 1 0 ZNF343 79175 broad.mit.edu 37 20 2463828 2463828 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr20:2463828G>A ENST00000278772.4 - 6 2266 c.1779C>T c.(1777-1779)atC>atT p.I593I RP4-734P14.4_ENST00000461548.1_Intron NM_001282495.1|NM_001282496.1|NM_024325.4 NP_001269424.1|NP_001269425.1|NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 593 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 TCTGGTGTCTGATGAGATTTG 0.507000 9 75 0 0 1 0 0 SLFN12L 100506736 broad.mit.edu 37 17 33806548 33806548 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:33806548G>C ENST00000260908.7 - 2 798 c.681C>G c.(679-681)ttC>ttG p.F227L SLFN12L_ENST00000449046.1_Missense_Mutation_p.F258L|SLFN12L_ENST00000361112.4_Missense_Mutation_p.F256L NM_001195790.1 NP_001182719.1 Q6IEE8 SN12L_HUMAN schlafen family member 12-like 259 integral to membrane ATP binding breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 TTTCAGTCGAGAAGTTTTTTA 0.343000 5 65 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138452557 138452557 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:138452557G>A ENST00000344876.4 - 1 1072 c.686C>T c.(685-687)tCa>tTa p.S229L PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.S9L|PCDH18_ENST00000412923.2_Missense_Mutation_p.S229L|PCDH18_ENST00000511115.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 229 Cadherin 2. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TAGTATGGATGAGCCAGACCT 0.463000 6 85 0 0 1 0 0 ZNF576 79177 broad.mit.edu 37 19 44103069 44103069 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:44103069C>G ENST00000336564.4 + 3 326 c.172C>G c.(172-174)Cca>Gca p.P58A ZNF576_ENST00000528387.1_Missense_Mutation_p.P58A|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000533118.1_Missense_Mutation_p.P58A|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000529930.1_Missense_Mutation_p.P58A|ZNF576_ENST00000525771.1_Missense_Mutation_p.P58A|ZNF576_ENST00000391965.2_Missense_Mutation_p.P58A NM_001145347.1 NP_001138819.1 Q9H609 ZN576_HUMAN zinc finger protein 576 58 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|prostate(1) 2 Prostate(69;0.0199) GCGGGAGCACCCAGCGGACTT 0.637000 5 197 0 0 1 0 0 ZNF250 58500 broad.mit.edu 37 8 146108216 146108216 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr8:146108216C>T ENST00000292579.7 - 6 483 c.367G>A c.(367-369)Gaa>Aaa p.E123K ZNF250_ENST00000417550.2_Missense_Mutation_p.E118K|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron NM_001109689.3|NM_021061.4 NP_001103159.1|NP_066405.1 P15622 ZN250_HUMAN zinc finger protein 250 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(2)|lung(8)|skin(1) 15 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) CCCTTGGTTTCACATTCTGAA 0.413000 11 167 0 0 1 0 0 GPR75 10936 broad.mit.edu 37 2 54080838 54080838 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:54080838G>C ENST00000394705.2 - 2 1326 c.1056C>G c.(1054-1056)ttC>ttG p.F352L ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron NM_006794.3 NP_006785.1 O95800 GPR75_HUMAN G protein-coupled receptor 75 352 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GGTAAAGAATGAAGCTCCCAT 0.443000 20 91 0 0 1 0 0 HPS3 84343 broad.mit.edu 37 3 148847597 148847597 + Silent SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:148847597G>C ENST00000296051.2 + 1 227 c.87G>C c.(85-87)ggG>ggC p.G29G HPS3_ENST00000460120.1_Silent_p.G29G|HPS3_ENST00000494327.1_3'UTR NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 29 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GTGGCGGGGGGCGTGACGCGC 0.721000 Hermansky-Pudlak syndrome 4 43 0 0 1 0 0 CRYM 1428 broad.mit.edu 37 16 21273477 21273477 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:21273477C>G ENST00000219599.3 - 8 941 c.676G>C c.(676-678)Gtt>Ctt p.V226L CRYM_ENST00000396023.2_Missense_Mutation_p.V226L|CRYM_ENST00000543948.1_Missense_Mutation_p.V226L|CRYM_ENST00000415987.2_Missense_Mutation_p.V184L NM_001888.3 NP_001879.1 Q14894 CRYM_HUMAN crystallin, mu 226 negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport cytoplasm|nucleus|plasma membrane NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity large_intestine(1)|lung(3) 4 GBM - Glioblastoma multiforme(48;0.0573) Levothyroxine(DB00451) CTGGCTCCAACAGCTAAGAGA 0.522000 5 40 0 0 1 0 0 SMC4 10051 broad.mit.edu 37 3 160138558 160138558 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:160138558G>C ENST00000357388.3 + 13 2339 c.1888G>C c.(1888-1890)Gac>Cac p.D630H SMC4_ENST00000360111.2_Missense_Mutation_p.D630H|SMC4_ENST00000469762.1_Missense_Mutation_p.D605H|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.D630H|SMC4_ENST00000344722.5_Missense_Mutation_p.D630H NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 630 Flexible hinge. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TGAAAAATACGACGTGGCTAT 0.373000 18 133 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133887605 133887605 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:133887605G>T ENST00000409261.1 - 6 659 c.286C>A c.(286-288)Cta>Ata p.L96I NCKAP5_ENST00000405974.3_Missense_Mutation_p.L96I|NCKAP5_ENST00000409213.1_Missense_Mutation_p.L96I|NCKAP5_ENST00000317721.6_Missense_Mutation_p.L96I NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 96 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TCAGACTCTAGGGTCACCTCC 0.478000 5 28 0.014758 0.014898 1 1 0 ALYREF 10189 broad.mit.edu 37 17 79848597 79848597 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:79848597G>C ENST00000331204.4 - 2 363 c.337C>G c.(337-339)Ctg>Gtg p.L113V ALYREF_ENST00000512673.1_5'UTR|ALYREF_ENST00000505490.2_Missense_Mutation_p.L120V NM_005782.3 NP_005773.3 Q86V81 THOC4_HUMAN Aly/REF export factor 113 Ala/Arg/Gly-rich.|RRM. intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex nucleotide binding|protein binding|RNA binding CCAAAATCCAGATTGGACACC 0.567000 5 118 0 0 1 0 0 CCDC39 339829 broad.mit.edu 37 3 180359944 180359944 + Missense_Mutation SNP T T G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:180359944T>G ENST00000273654.4 - 19 2582 c.1963A>C c.(1963-1965)Act>Cct p.T655P CCDC39_ENST00000442201.2_Missense_Mutation_p.T571P Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 571 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) ATTTCTCGAGTACGCTTAACT 0.323000 10 24 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93496669 93496669 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:93496669C>A ENST00000394196.4 + 14 2653 c.1585C>A c.(1585-1587)Caa>Aaa p.Q529K CHD2_ENST00000557381.1_Missense_Mutation_p.Q529K NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 529 Helicase ATP-binding. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CCTGTTCCACCAACACCAGCT 0.443000 24 108 9.86323e-18 1.09317e-17 1 1 0 ARPC2 10109 broad.mit.edu 37 2 219110212 219110212 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:219110212C>G ENST00000295685.10 + 7 880 c.619C>G c.(619-621)Ctg>Gtg p.L207V ARPC2_ENST00000315717.5_Missense_Mutation_p.L207V|ARPC2_ENST00000477992.1_3'UTR NM_005731.2 NP_005722.1 O15144 ARPC2_HUMAN actin related protein 2/3 complex, subunit 2, 34kDa 207 cellular component movement Arp2/3 protein complex|cell projection|Golgi apparatus actin binding|structural constituent of cytoskeleton cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 6 Renal(207;0.0474) Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103) GGAACCTCCTCTGGAGCTGAA 0.527000 11 99 0 0 1 0 0 FMO4 2329 broad.mit.edu 37 1 171310693 171310693 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:171310693A>G ENST00000367749.3 + 10 1722 c.1392A>G c.(1390-1392)ggA>ggG p.G464G NM_002022.1 NP_002013.1 P31512 FMO4_HUMAN flavin containing monooxygenase 4 464 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TTTTCTTTGGACCATGTACTC 0.498000 14 113 0 0 1 0 0 ZNF2 7549 broad.mit.edu 37 2 95847683 95847683 + Silent SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:95847683T>C ENST00000398107.2 + 4 1506 c.984T>C c.(982-984)taT>taC p.Y328Y ZNF2_ENST00000295210.6_Silent_p.Y332Y|ZNF2_ENST00000425369.1_Silent_p.Y290Y|ZNF2_ENST00000453539.2_Silent_p.Y383Y|ZNF2_ENST00000340539.5_Silent_p.Y370Y NM_001017396.1 NP_001017396 Q9BSG1 ZNF2_HUMAN zinc finger protein 2 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 12 Ovarian(717;0.00768) READ - Rectum adenocarcinoma(193;0.0222) ACAAGCCATATGAATGCAGCG 0.552000 31 169 0 0 1 0 0 ZNF213 7760 broad.mit.edu 37 16 3189016 3189016 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:3189016G>C ENST00000396878.3 + 5 1113 c.638G>C c.(637-639)cGg>cCg p.R213P ZNF213_ENST00000576416.1_Missense_Mutation_p.R213P|ZNF213_ENST00000416391.2_Missense_Mutation_p.R55P|ZNF213_ENST00000574902.1_Missense_Mutation_p.R213P NM_001134655.1|NM_004220.2 NP_001128127.1|NP_004211.1 O14771 ZN213_HUMAN zinc finger protein 213 213 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 16 TATTTCTCCCGGGAAGAATGG 0.617000 9 170 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82832894 82832894 + Missense_Mutation SNP A A G rs142339468 TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:82832894A>G ENST00000265077.3 + 8 4637 c.4072A>G c.(4072-4074)Agt>Ggt p.S1358G VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.S371G|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1358 GAG-beta. 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) TGAACCTTGTAGTGAAGAAAC 0.338000 9 98 0 0 1 0 0 EDNRB 1910 broad.mit.edu 37 13 78477304 78477304 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:78477304G>A ENST00000377211.4 - 4 1210 c.1058C>T c.(1057-1059)aCa>aTa p.T353I EDNRB_ENST00000334286.5_Missense_Mutation_p.T263I|EDNRB_ENST00000446573.1_Missense_Mutation_p.T263I NM_001201397.1 NP_001188326.1 P24530 EDNRB_HUMAN endothelin receptor type B 263 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) CATGAAAGCTGTCTTCTGAAC 0.403000 13 83 0 0 1 0 0 SPATA7 55812 broad.mit.edu 37 14 88883148 88883148 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:88883148A>G ENST00000556553.1 + 5 795 c.236A>G c.(235-237)tAt>tGt p.Y79C SPATA7_ENST00000045347.7_Missense_Mutation_p.Y111C|SPATA7_ENST00000393545.4_Missense_Mutation_p.Y111C|SPATA7_ENST00000356583.5_Missense_Mutation_p.Y79C Q9P0W8 SPAT7_HUMAN spermatogenesis associated 7 111 response to stimulus|visual perception cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 18 CGAGCCAATTATAAAAATAAT 0.294000 7 76 0 0 1 0 0 UPK3A 7380 broad.mit.edu 37 22 45689107 45689107 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr22:45689107G>C ENST00000216211.4 + 5 649 c.617G>C c.(616-618)gGa>gCa p.G206A UPK3A_ENST00000396082.2_Missense_Mutation_p.G85A NM_006953.3 NP_008884.1 O75631 UPK3A_HUMAN uroplakin 3A 206 epithelial cell differentiation endoplasmic reticulum membrane|integral to membrane kidney(1)|large_intestine(1)|lung(2)|skin(1) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CGGCGGAGCGGAGGCATGATC 0.612000 3 78 0 0 1 0 0 FAM60A 58516 broad.mit.edu 37 12 31446847 31446847 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:31446847C>T ENST00000337682.4 - 4 615 c.247G>A c.(247-249)Gga>Aga p.G83R FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000542983.1_5'UTR|FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000454658.2_Missense_Mutation_p.G83R NM_001135812.1 NP_001129284.1 Q9NP50 FA60A_HUMAN family with sequence similarity 60, member A 83 large_intestine(1)|lung(2) 3 all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162) AGACTGGGTCCAGCCCTTGCA 0.368000 11 71 0 0 1 0 0 GGA3 23163 broad.mit.edu 37 17 73239236 73239236 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:73239236A>T ENST00000245541.6 - 6 652 c.436T>A c.(436-438)Tct>Act p.S146T GGA3_ENST00000578348.1_Missense_Mutation_p.S24T|GGA3_ENST00000351904.7_Missense_Mutation_p.S113T|GGA3_ENST00000538886.1_Missense_Mutation_p.S24T|GGA3_ENST00000582717.1_Missense_Mutation_p.S74T|GGA3_ENST00000582486.1_Missense_Mutation_p.S74T|GGA3_ENST00000537686.1_Intron NM_138619.2 NP_619525.1 Q9NZ52 GGA3_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 3 146 Binds to ARF1 (in long isoform).|VHS. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 20 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) GGTGGGTCAGACTGCACTATG 0.542000 19 151 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48773879 48773879 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:48773879C>G ENST00000316623.5 - 32 4392 c.3937G>C c.(3937-3939)Ggc>Cgc p.G1313R NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 1313 EGF-like 21; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding p.G1313R(1) NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CCTTTTTTGCCGGAGTAGCCC 0.373000 14 137 0 0 1 0 0 ZMPSTE24 10269 broad.mit.edu 37 1 40737578 40737587 + Frame_Shift_Del DEL ATCTATGCTG ATCTATGCTG - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:40737578_40737587delATCTATGCTG ENST00000372759.3 + 6 805_814 c.640_649delATCTATGCTG c.(640-651)atctatgctgatfs p.IYAD214fs NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 214 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 16 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) TCTTGTCACAATCTATGCTGATTATATTGC 0.300 11 173 --- --- --- --- RPTN 126638 broad.mit.edu 37 1 152127881 152127884 + Frame_Shift_Del DEL TGTC TGTC - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:152127881_152127884delTGTC ENST00000316073.3 - 3 1755_1758 c.1691_1694delGACA c.(1690-1695)agacaafs p.RQ564fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 564 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 GCTCTGGCCTTGTCTGTCTGTCTG 0.485 7 1314 --- --- --- --- PCP4L1 654790 broad.mit.edu 37 1 161254154 161254156 + In_Frame_Del DEL GGA GGA - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:161254154_161254156delGGA ENST00000504449.1 + 3 338_340 c.90_92delGGA c.(88-93)gcggag>gcg p.E35del NM_001102566.1 NP_001096036.1 A6NKN8 PC4L1_HUMAN Purkinje cell protein 4 like 1 35 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 8 287 --- --- --- --- PBRM1 55193 broad.mit.edu 37 3 52643634 52643634 + Frame_Shift_Del DEL T T - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:52643634delT ENST00000356770.4 - 15 2168 c.2166delA c.(2164-2166)aaafs p.K722fs PBRM1_ENST00000296302.7_Frame_Shift_Del_p.K754fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.K769fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.K754fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.K754fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.K754fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.K769fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.K754fs Q86U86 PB1_HUMAN polybromo 1 754 Bromo 5. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CAAGCAGGACTTTGTGTAGAA 0.418 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 8 113 --- --- --- --- ITIH1 3697 broad.mit.edu 37 3 52814364 52814364 + Frame_Shift_Del DEL C C - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:52814364delC ENST00000273283.2 + 6 677 c.653delC c.(652-654)gccfs p.A218fs ITIH1_ENST00000542827.1_Frame_Shift_Del_p.A218fs|ITIH1_ENST00000540715.1_Frame_Shift_Del_p.A76fs|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000487686.1_3'UTR NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 218 hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) GAACTGGCAGCCCAAACTATC 0.527 7 41 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129370576 129370578 + In_Frame_Del DEL CTG CTG - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:129370576_129370578delCTG ENST00000393238.3 - 6 2048_2050 c.1708_1710delCAG c.(1708-1710)cagdel p.Q570del TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 570 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GCTGCACCACCTGCTGCTGCTGC 0.581 8 164 --- --- --- --- MFSD8 256471 broad.mit.edu 37 4 128865042 128865060 + Frame_Shift_Del DEL GTCTATAATTAGACCATAA GTCTATAATTAGACCATAA - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:128865042_128865060delGTCTATAATTAGACCATAA ENST00000296468.3 - 5 413_431 c.286_304delTTATGGTCTAATTATAGAC c.(286-306)ttatggtctaattatagaccafs p.LWSNYRP96fs MFSD8_ENST00000541133.1_Frame_Shift_Del_p.LWSNYRP51fs|MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Frame_Shift_Del_p.LWSNYRP51fs NM_152778.2 NP_689991.1 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 8 96 cell death|transmembrane transport integral to membrane|lysosomal membrane cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1) 23 TCTTTTCTTGGTCTATAATTAGACCATAAACCAAATATA 0.402 11 109 --- --- --- --- TBC1D9B 23061 broad.mit.edu 37 5 179294465 179294465 + Frame_Shift_Del DEL A A - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:179294465delA ENST00000356834.3 - 19 2931 c.2894delT c.(2893-2895)ttcfs p.F965fs TBC1D9B_ENST00000444477.2_Intron|TBC1D9B_ENST00000519746.1_Intron|TBC1D9B_ENST00000355235.3_Intron NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 965 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCAGGGCAGGAAAAGATCCAG 0.597 5 9 --- --- --- --- ZNF318 24149 broad.mit.edu 37 6 43305708 43305708 + Frame_Shift_Del DEL C C - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:43305708delC ENST00000361428.2 - 10 6105 c.6028delG c.(6028-6030)gagfs p.E2010fs ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 2010 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) GCAGTAAGCTCCTCTACCTTT 0.473 8 109 --- --- --- --- HTR1E 3354 broad.mit.edu 37 6 87725847 87725847 + Frame_Shift_Del DEL C C - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:87725847delC ENST00000305344.5 + 2 1498 c.795delC c.(793-795)atcfs p.I265fs NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.F268fs*4(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CCATCAGGATCCCCCCCTTCG 0.512 7 322 --- --- --- --- BHLHE22 27319 broad.mit.edu 37 8 65493617 65493618 + In_Frame_Ins INS - - GGC TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr8:65493617_65493618insGGC ENST00000321870.1 + 1 804_805 c.270_271insGGC c.(271-273)ggc>GGCggc p.91_91G>GG RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 91 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 gcgcgggaagtggcggcggcgg 0.782 2 4 --- --- --- --- LINC00051 619434 broad.mit.edu 37 8 143287465 143287466 + RNA INS - - AGGGGC TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr8:143287465_143287466insAGGGGC ENST00000517704.1 + 0 101 NR_024378.1 GAGACAGCGGAaggggcagggg 0.624 4 2 --- --- --- --- SURF6 6838 broad.mit.edu 37 9 136201230 136201234 + Frame_Shift_Del DEL GCAGG GCAGG - rs35975060 TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:136201230_136201234delGCAGG ENST00000372022.4 - 2 563_567 c.298_302delCCTGC c.(298-303)cctgcafs p.PA100fs NM_006753.4 NP_006744.2 O75683 SURF6_HUMAN surfeit 6 100 granular component DNA binding|RNA binding endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 12 OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05) CCTCTCACCTGCAGGGTTCCCTGCT 0.605 7 50 --- --- --- --- SURF1 6834 broad.mit.edu 37 9 136220674 136220682 + In_Frame_Del DEL CCTCCCGGG CCTCCCGGG - rs140443050 TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:136220674_136220682delCCTCCCGGG ENST00000371974.3 - 5 468_476 c.437_445delCCCGGGAGG c.(436-447)gcccgggagggc>ggc p.ARE146del SURF1_ENST00000495952.1_5'UTR NM_001280787.1|NM_003172.2 NP_001267716.1|NP_003163.1 Q15526 SURF1_HUMAN surfeit 1 146 aerobic respiration|respiratory chain complex IV assembly integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity breast(2)|endometrium(1)|ovary(2)|stomach(1) 6 OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05) ATGAGGCCGCCCTCCCGGGCCTCCCGGAC 0.598 33 331 --- --- --- --- HMX3 340784 broad.mit.edu 37 10 124895626 124895627 + Frame_Shift_Ins INS - - C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:124895626_124895627insC ENST00000357878.5 + 1 149_150 c.60_61insC c.(61-63)cccfs p.P21fs NM_001105574.1 NP_001099044.1 A6NHT5 HMX3_HUMAN H6 family homeobox 3 21 Pro-rich. cell differentiation nucleus sequence-specific DNA binding transcription factor activity lung(4) 4 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141) AACCGCCGCCGCCCCCCCCACC 0.748 2 4 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56558379 56558381 + In_Frame_Del DEL AGG AGG - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:56558379_56558381delAGG ENST00000550164.1 - 28 3381_3383 c.3367_3369delCCT c.(3367-3369)cctdel p.P1123del SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|SMARCC2_ENST00000347471.4_Intron|RP11-977G19.5_ENST00000553176.1_RNA Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1092 Pro-rich. HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694). chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TGGATGGAGCAGGAGGAGGAGGA 0.591 9 76 --- --- --- --- PDZD9 255762 broad.mit.edu 37 16 21995741 21995750 + Frame_Shift_Del DEL TTTCTTGTCG TTTCTTGTCG - rs146108684 byFrequency TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:21995741_21995750delTTTCTTGTCG ENST00000286143.6 - 5 768_777 c.447_456delCGACAAGAAA c.(445-456)gacgacaagaaafs p.DDKK149fs PDZD9_ENST00000537222.2_Frame_Shift_Del_p.DDKK151fs|PDZD9_ENST00000424898.2_Frame_Shift_Del_p.DDKK211fs Q8IXQ8 PDZD9_HUMAN PDZ domain containing 9 211 p.D150E(1) breast(3)|endometrium(2)|lung(3)|pancreas(1) 9 CCCTCACTTCTTTCTTGTCGTCTCTGTGAA 0.433 13 219 --- --- --- --- ARHGAP44 9912 broad.mit.edu 37 17 12888211 12888211 + Frame_Shift_Del DEL A A - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:12888211delA ENST00000379672.5 + 20 2603 c.2303delA c.(2302-2304)gaafs p.E768fs ARHGAP44_ENST00000340825.3_Frame_Shift_Del_p.E762fs|ARHGAP44_ENST00000262444.9_Frame_Shift_Del_p.E768fs NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 768 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 TCCCCTGGGGAAAGCATGTCT 0.537 11 58 --- --- --- --- APOC1P1 342 broad.mit.edu 37 19 45434237 45434237 + RNA DEL T T - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:45434237delT ENST00000574565.1 + 0 402 NR_028412.1 AGTGACCCCCTTCCTTATTCC 0.517 7 480 --- --- --- --- KPTN 11133 broad.mit.edu 37 19 47984066 47984066 + Frame_Shift_Del DEL C C - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:47984066delC ENST00000338134.3 - 6 657 c.550delG c.(550-552)gaafs p.E184fs KPTN_ENST00000536339.1_5'UTR|KPTN_ENST00000595484.1_5'UTR NM_007059.2 NP_008990.2 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) 184 actin filament organization|cellular component movement|sensory perception of sound actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium actin binding breast(1)|lung(3)|ovary(2)|pancreas(2) 8 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694) ACGGGCTGTTCCTCAAACTGA 0.602 27 327 --- --- --- --- NCF4 4689 broad.mit.edu 37 22 37261076 37261080 + Frame_Shift_Del DEL AGAGC AGAGC - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr22:37261076_37261080delAGAGC ENST00000397147.4 + 3 417_421 c.233_237delAGAGC c.(232-237)aagagcfs p.KS78fs CTA-833B7.2_ENST00000431290.1_RNA|CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000248899.6_Frame_Shift_Del_p.KS78fs NM_013416.3 NP_038202.2 Q15080 NCF4_HUMAN neutrophil cytosolic factor 4, 40kDa 78 PX. cell communication|immune response|oxidation-reduction process cytosol|NADPH oxidase complex phosphatidylinositol binding|protein dimerization activity cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 CCAGACAGCAAGAGCAGTGCCCTGG 0.620 18 136 --- --- --- --- TFE3 7030 broad.mit.edu 37 X 48887952 48887952 + Frame_Shift_Del DEL C C - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:48887952delC ENST00000315869.7 - 10 1704 c.1445delG c.(1444-1446)ggafs p.G482fs NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 482 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 CTGGGCAGGTCCCCCCCCTAC 0.647 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 40 122 --- --- --- ---