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 POTEM 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr14:20010235A>G ENST00000551509.1 - 5 974 c.923T>C c.(922-924)gTt>gCt p.V308A RP11-244H18.1_ENST00000547584.1_lincRNA NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 308 endometrium(4)|kidney(1)|lung(4) 9 AAGTATGAGAACAGTTCTAAA 0.368000 3 55 0 0 0.115264 0 0 GRM4 2914 broad.mit.edu 37 6 34004179 34004179 + Missense_Mutation SNP G G A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr6:34004179G>A ENST00000374181.3 - 8 1877 c.1708C>T c.(1708-1710)Cgc>Tgc p.R570C GRM4_ENST00000455714.2_Missense_Mutation_p.R430C|GRM4_ENST00000544773.1_Missense_Mutation_p.R401C|GRM4_ENST00000538487.1_Missense_Mutation_p.R570C|GRM4_ENST00000545715.1_Missense_Mutation_p.R262C|GRM4_ENST00000535756.1_Missense_Mutation_p.R437C|GRM4_ENST00000374177.3_Missense_Mutation_p.R454C NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 570 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.R570C(2)|p.R454C(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CAGCCCGTGCGGTTCTCTGTG 0.652000 15 38 0 0 0.520397 0 0 AP3B2 8120 broad.mit.edu 37 15 83346500 83346500 + Missense_Mutation SNP C C A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr15:83346500C>A ENST00000261722.3 - 12 1508 c.1301G>T c.(1300-1302)gGa>gTa p.G434V AP3B2_ENST00000535348.1_Missense_Mutation_p.G402V|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.G434V NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 434 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity p.G433V(1)|p.G434V(1) breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) TGCACAGCGTCCAATGGCCTG 0.537000 4 14 0.00024832 0.00029289 0.150653 1 0 IGHV3-9 0 broad.mit.edu 37 14 106552556 106552556 + RNA SNP C C A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr14:106552556C>A ENST00000390600.2 - 0 162 TACCAAGCCTCCCCCAGACTC 0.557000 17 66 3.32936e-07 4.1392e-07 0.539581 1 0 SPTBN1 0 broad.mit.edu 37 2 54753666 54753666 + Silent SNP G G A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr2:54753666G>A ENST00000356805.4 + 2 392 c.111G>A c.(109-111)gcG>gcA p.A37A AC092839.3_ENST00000433475.1_RNA NM_003128.2 NP_003119.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 37 Actin-binding. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton p.A37A(1) NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) ACAGCTCTGCGCGGCTTTTTG 0.532000 16 54 0 0 0.520397 0 0 KRTAP5-9 3846 broad.mit.edu 37 11 71259904 71259904 + Silent SNP C C T TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr11:71259904C>T ENST00000528743.2 + 1 439 c.201C>T c.(199-201)ggC>ggT p.G67G NM_005553.3 NP_005544.4 P26371 KRA59_HUMAN keratin associated protein 5-9 67 8 X 4 AA repeats of C-C-X-P. epidermis development keratin filament p.G67G(1) kidney(1)|large_intestine(1)|lung(6)|prostate(3) 11 CCTGTGGGGGCTCCAAGGGAG 0.627000 8 159 0 0 0.335167 0 0 IQGAP1 8826 broad.mit.edu 37 15 91027480 91027480 + Missense_Mutation SNP C C G TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr15:91027480C>G ENST00000268182.5 + 30 3941 c.3817C>G c.(3817-3819)Cca>Gca p.P1273A IQGAP1_ENST00000560738.1_Missense_Mutation_p.P701A NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1273 C1. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity p.P1273A(1) breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) TTGTGATGTCCCAGAGCTTCA 0.423000 33 121 0 0 0.788014 0 0 MORF4L1 10933 broad.mit.edu 37 15 79177371 79177371 + Missense_Mutation SNP T T C TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr15:79177371T>C ENST00000331268.5 + 4 422 c.218T>C c.(217-219)cTt>cCt p.L73P MORF4L1_ENST00000379535.4_Intron|MORF4L1_ENST00000426013.2_Intron|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000559345.1_Intron|MORF4L1_ENST00000558746.1_Intron|MORF4L1_ENST00000558502.1_Intron NM_206839.2 NP_996670.1 Q9UBU8 MO4L1_HUMAN mortality factor 4 like 1 73 double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding p.L73P(1) breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1) 10 ATTGTAGCCCTTTTTCCTGTT 0.443000 3 93 0 0 0.150653 0 0 BEND6 221336 broad.mit.edu 37 6 56882125 56882125 + Missense_Mutation SNP G G A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr6:56882125G>A ENST00000370746.3 + 5 909 c.640G>A c.(640-642)Gca>Aca p.A214T BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.A116T|BEND6_ENST00000484701.1_3'UTR NM_152731.2 NP_689944.2 Q5SZJ8 BEND6_HUMAN BEN domain containing 6 214 BEN. p.A214T(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 17 CCTGACAGGGGCAAAATCCTC 0.388000 3 30 0 0 0.115264 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 68 0 0 0.184627 0 0 XPO4 64328 broad.mit.edu 37 13 21436893 21436893 + Silent SNP G G T TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr13:21436893G>T ENST00000400602.2 - 3 315 c.280C>A c.(280-282)Cga>Aga p.R94R XPO4_ENST00000255305.6_Silent_p.R94R|XPO4_ENST00000490513.1_5'UTR NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 94 protein transport cytoplasm|nucleus protein binding p.R67R(1) breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) AGGAATGTTCGCAGAGACTCG 0.433000 9 257 2.17888e-05 2.63759e-05 0.335167 1 0 TLE4 7091 broad.mit.edu 37 9 82320809 82320809 + Silent SNP C C T TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr9:82320809C>T ENST00000376520.4 + 10 1563 c.735C>T c.(733-735)agC>agT p.S245S TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376552.2_Silent_p.S245S|TLE4_ENST00000265284.6_Silent_p.S220S|TLE4_ENST00000376537.4_Silent_p.S245S O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 p.S245S(2) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 TGCAGGACAGCGATGGTGAGA 0.398000 6 129 0 0 0.248553 0 0 NGLY1 55768 broad.mit.edu 37 3 25778887 25778887 + Missense_Mutation SNP T T C TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr3:25778887T>C ENST00000428257.1 - 6 1048 c.941A>G c.(940-942)aAt>aGt p.N314S NGLY1_ENST00000280700.5_Missense_Mutation_p.N314S|NGLY1_ENST00000417874.2_Missense_Mutation_p.N272S|NGLY1_ENST00000422724.2_Missense_Mutation_p.I163V|NGLY1_ENST00000396649.3_Missense_Mutation_p.N314S NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 314 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding p.N314S(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 TGTAAAACAATTGGCCCACTC 0.413000 8 61 0 0 0.307466 0 0 TPO 7173 broad.mit.edu 37 2 1499889 1499889 + Missense_Mutation SNP G G A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr2:1499889G>A ENST00000345913.4 + 12 2226 c.2135G>A c.(2134-2136)gGc>gAc p.G712D TPO_ENST00000346956.3_Missense_Mutation_p.G712D|TPO_ENST00000382198.1_Missense_Mutation_p.G539D|TPO_ENST00000382201.3_Missense_Mutation_p.G655D|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.G539D|TPO_ENST00000337415.3_Missense_Mutation_p.G712D|TPO_ENST00000329066.4_Missense_Mutation_p.G712D NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 712 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity p.G712D(1) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TTCCAAGTCGGCAAATTCCCC 0.562000 3 49 0 0 0.115264 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 67 0 0 0.184627 0 0 C20orf194 25943 broad.mit.edu 37 20 3236652 3236652 + Splice_Site SNP C C G TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr20:3236652C>G ENST00000252032.9 - 34 3328 c.3261_splice c.e34+1 p.Q1087_splice C20orf194_ENST00000453730.2_3'UTR NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 1087 p.Q1087H(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 TGGAAACCACCTGCTTAGCTG 0.597000 8 27 0 0 0.278610 0 0 CHAF1A 10036 broad.mit.edu 37 19 4442949 4442949 + Missense_Mutation SNP C C T TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr19:4442949C>T ENST00000301280.5 + 15 2899 c.2798C>T c.(2797-2799)tCc>tTc p.S933F NM_005483.2 NP_005474.2 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 933 Binds to 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|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding p.S933F(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGCCGCTTCCGGAGCTGGG 0.672000 Chromatin Structure 5 18 0 0 0.278610 0 0 TMEM184C 55751 broad.mit.edu 37 4 148545026 148545026 + Missense_Mutation SNP T T G TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr4:148545026T>G ENST00000296582.3 + 2 739 c.165T>G c.(163-165)ttT>ttG p.F55L TMEM184C_ENST00000508208.1_Missense_Mutation_p.F55L NM_018241.2 NP_060711.2 Q9NVA4 T184C_HUMAN transmembrane protein 184C 55 integral to membrane p.F55L(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1) 16 CTGGAATCTTTTTGCTGTTGA 0.323000 23 66 0 0 0.654019 0 0 SLC34A2 10568 broad.mit.edu 37 4 25678365 25678365 + Silent SNP C C T TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr4:25678365C>T ENST00000382051.3 + 13 2117 c.2067C>T c.(2065-2067)gcC>gcT p.A689A SLC34A2_ENST00000504570.1_Silent_p.A688A|SLC34A2_ENST00000503434.1_Silent_p.A688A NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 689 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity p.A689A(1) SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) AATGCACGGCCTTGTAGGGGA 0.562000 T ROS1 NSCLC 12 56 0 0 0.411799 0 0 PTPRT 11122 broad.mit.edu 37 20 40735499 40735499 + Missense_Mutation SNP T T G TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr20:40735499T>G ENST00000373198.3 - 25 3618 c.3383A>C c.(3382-3384)aAt>aCt p.N1128T PTPRT_ENST00000373187.1_Missense_Mutation_p.N1106T|PTPRT_ENST00000356100.2_Missense_Mutation_p.N1115T|PTPRT_ENST00000373201.1_Missense_Mutation_p.N1096T|PTPRT_ENST00000373184.1_Missense_Mutation_p.N1116T|PTPRT_ENST00000373190.1_Missense_Mutation_p.N1105T|PTPRT_ENST00000373193.3_Missense_Mutation_p.N1109T NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1106 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.N1128T(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CACCCCTTCATTCTCGGCCAT 0.562000 4 103 0 0 0.184627 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240627 39240627 + Missense_Mutation SNP T T C rs139671425 by1000genomes TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr17:39240627T>C ENST00000391417.4 + 1 169 c.169T>C c.(169-171)Tct>Cct p.S57P NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.S57P(4) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 GTGCTGCCAGTCTGTGTGCTG 0.667000 4 68 0 0 0.184627 0 0 DDX60L 91351 broad.mit.edu 37 4 169300651 169300651 + Missense_Mutation SNP T T C TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr4:169300651T>C ENST00000511577.1 - 32 4473 c.4226A>G c.(4225-4227)tAt>tGt p.Y1409C DDX60L_ENST00000260184.7_Missense_Mutation_p.Y1409C Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1409 ATP binding|ATP-dependent helicase activity|RNA binding p.Y1409C(1)|p.Y1410C(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TTTATTTAAATAGTCCTAAAA 0.303000 11 15 0 0 0.387290 0 0 SLK 9748 broad.mit.edu 37 10 105761232 105761232 + Missense_Mutation SNP C C A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr10:105761232C>A ENST00000369755.3 + 8 1440 c.895C>A c.(895-897)Ccc>Acc p.P299T SLK_ENST00000335753.4_Missense_Mutation_p.P299T NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 299 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity p.P299T(1) kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TTCCAACAAACCCATCCGAGA 0.388000 7 32 0.00307968 0.00354163 0.278610 1 0 RPS6KA5 9252 broad.mit.edu 37 14 91360831 91360831 + Missense_Mutation SNP T T G TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr14:91360831T>G ENST00000261991.3 - 13 1743 c.1570A>C c.(1570-1572)Atc>Ctc p.I524L RPS6KA5_ENST00000536315.2_Missense_Mutation_p.I445L|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.I524L NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 524 Protein kinase 2. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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 cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.I524L(2) endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) TTCCTCATGATGTAGCTGGCT 0.448000 25 54 0 0 0.667858 0 0 BBS10 79738 broad.mit.edu 37 12 76740951 76740951 + Missense_Mutation SNP C C T TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr12:76740951C>T ENST00000393262.3 - 2 897 c.814G>A c.(814-816)Gga>Aga p.G272R NM_024685.3 NP_078961.3 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 272 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding p.G272R(1) endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1) 19 AACTCTGATCCAGAAGTGGAA 0.373000 Bardet-Biedl syndrome 12 26 0 0 0.387290 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274157 39274157 + Silent SNP G G A rs145503152 TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr17:39274157G>A ENST00000391413.2 - 1 449 c.411C>T c.(409-411)ccC>ccT p.P137P NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 137 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.P137P(3) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) tgctgcagctggggtggcagc 0.672000 7 38 0 0 0.307466 0 0 CAPN13 92291 broad.mit.edu 37 2 30987143 30987143 + Missense_Mutation SNP T T C TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr2:30987143T>C ENST00000295055.8 - 6 730 c.554A>G c.(553-555)tAt>tGt p.Y185C CAPN13_ENST00000534090.2_Missense_Mutation_p.Y185C|CAPN13_ENST00000465960.2_5'UTR NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 185 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity p.Y185C(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) GAGGAAGCCATAGTGCAGATC 0.577000 9 22 0 0 0.361761 0 0 APLP2 334 broad.mit.edu 37 11 129979414 129979414 + Missense_Mutation SNP C C A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr11:129979414C>A ENST00000263574.5 + 2 268 c.196C>A c.(196-198)Cag>Aag p.Q66K APLP2_ENST00000345598.5_Missense_Mutation_p.Q66K|APLP2_ENST00000338167.5_Missense_Mutation_p.Q66K|APLP2_ENST00000278756.7_Missense_Mutation_p.Q76K|APLP2_ENST00000532456.1_3'UTR|APLP2_ENST00000528499.1_Missense_Mutation_p.Q66K|APLP2_ENST00000543137.1_5'UTR|APLP2_ENST00000539648.1_Intron NM_001642.2 NP_001633.1 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 66 G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity p.Q66K(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) TGTGAACATTCAGACTGGGAA 0.458000 3 46 0.115264 0.126242 0.115264 1 0 FZD6 8323 broad.mit.edu 37 8 104340556 104340556 + Missense_Mutation SNP A A G TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr8:104340556A>G ENST00000358755.4 + 5 1770 c.1453A>G c.(1453-1455)Att>Gtt p.I485V FZD6_ENST00000540287.1_Missense_Mutation_p.I180V|FZD6_ENST00000523739.1_Missense_Mutation_p.I453V|FZD6_ENST00000522566.1_Missense_Mutation_p.I485V NM_001164616.1|NM_003506.3 NP_001158088.1|NP_003497.2 O60353 FZD6_HUMAN frizzled family receptor 6 485 angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.I485V(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) GATGACATTAATTGTTGGCAT 0.358000 14 47 0 0 0.479597 0 0 KCNC4 3749 broad.mit.edu 37 1 110765671 110765671 + Missense_Mutation SNP G G A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr1:110765671G>A ENST00000369787.3 + 2 791 c.764G>A c.(763-765)cGc>cAc p.R255H KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.R255H|KCNC4_ENST00000413138.3_Missense_Mutation_p.R255H NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 255 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) AATATCGACCGCAACGTGACA 0.567000 4 134 0 0 0.150653 0 0 POTEM 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr14:20010235A>G ENST00000551509.1 - 5 974 c.923T>C c.(922-924)gTt>gCt p.V308A RP11-244H18.1_ENST00000547584.1_lincRNA NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 308 endometrium(4)|kidney(1)|lung(4) 9 AAGTATGAGAACAGTTCTAAA 0.368000 3 55 0 0 0.115264 0 0 GRM4 2914 broad.mit.edu 37 6 34004179 34004179 + Missense_Mutation SNP G G A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr6:34004179G>A ENST00000374181.3 - 8 1877 c.1708C>T c.(1708-1710)Cgc>Tgc p.R570C GRM4_ENST00000455714.2_Missense_Mutation_p.R430C|GRM4_ENST00000535756.1_Missense_Mutation_p.R437C|GRM4_ENST00000538487.1_Missense_Mutation_p.R570C|GRM4_ENST00000544773.1_Missense_Mutation_p.R401C|GRM4_ENST00000374177.3_Missense_Mutation_p.R454C|GRM4_ENST00000545715.1_Missense_Mutation_p.R262C NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 570 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.R570C(2)|p.R454C(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CAGCCCGTGCGGTTCTCTGTG 0.652000 15 38 0 0 0.520397 0 0 AP3B2 8120 broad.mit.edu 37 15 83346500 83346500 + Missense_Mutation SNP C C A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr15:83346500C>A ENST00000261722.3 - 12 1508 c.1301G>T c.(1300-1302)gGa>gTa p.G434V AP3B2_ENST00000535359.1_Missense_Mutation_p.G434V|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.G402V NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 434 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity p.G433V(1)|p.G434V(1) breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) TGCACAGCGTCCAATGGCCTG 0.537000 4 14 0.00024832 0.000305079 0.150653 1 0 IGHV3-9 0 broad.mit.edu 37 14 106552556 106552556 + RNA SNP C C A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr14:106552556C>A ENST00000390600.2 - 0 162 TACCAAGCCTCCCCCAGACTC 0.557000 17 66 3.32936e-07 4.33826e-07 0.539581 1 0 SPTBN1 0 broad.mit.edu 37 2 54753666 54753666 + Silent SNP G G A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr2:54753666G>A ENST00000356805.4 + 2 392 c.111G>A c.(109-111)gcG>gcA p.A37A AC092839.3_ENST00000433475.1_RNA NM_003128.2 NP_003119.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 37 Actin-binding. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton p.A37A(1) NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) ACAGCTCTGCGCGGCTTTTTG 0.532000 16 54 0 0 0.520397 0 0 CAPN13 92291 broad.mit.edu 37 2 30987143 30987143 + Missense_Mutation SNP T T C TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr2:30987143T>C ENST00000295055.8 - 6 730 c.554A>G c.(553-555)tAt>tGt p.Y185C CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.Y185C NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 185 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity p.Y185C(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) GAGGAAGCCATAGTGCAGATC 0.577000 9 22 0 0 0.361761 0 0 IQGAP1 8826 broad.mit.edu 37 15 91027480 91027480 + Missense_Mutation SNP C C G TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr15:91027480C>G ENST00000268182.5 + 30 3941 c.3817C>G c.(3817-3819)Cca>Gca p.P1273A IQGAP1_ENST00000560738.1_Missense_Mutation_p.P701A NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1273 C1. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity p.P1273A(1) breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) TTGTGATGTCCCAGAGCTTCA 0.423000 33 121 0 0 0.788014 0 0 MORF4L1 10933 broad.mit.edu 37 15 79177371 79177371 + Missense_Mutation SNP T T C TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr15:79177371T>C ENST00000331268.5 + 4 422 c.218T>C c.(217-219)cTt>cCt p.L73P MORF4L1_ENST00000559345.1_Intron|MORF4L1_ENST00000558746.1_Intron|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558502.1_Intron|MORF4L1_ENST00000379535.4_Intron|MORF4L1_ENST00000426013.2_Intron NM_206839.2 NP_996670.1 Q9UBU8 MO4L1_HUMAN mortality factor 4 like 1 73 double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding p.L73P(1) breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1) 10 ATTGTAGCCCTTTTTCCTGTT 0.443000 3 93 0 0 0.150653 0 0 BEND6 221336 broad.mit.edu 37 6 56882125 56882125 + Missense_Mutation SNP G G A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr6:56882125G>A ENST00000370746.3 + 5 909 c.640G>A c.(640-642)Gca>Aca p.A214T BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.A116T NM_152731.2 NP_689944.2 Q5SZJ8 BEND6_HUMAN BEN domain containing 6 214 BEN. p.A214T(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 17 CCTGACAGGGGCAAAATCCTC 0.388000 3 30 0 0 0.115264 0 0 HLA-V 0 broad.mit.edu 37 6 29761676 29761676 + RNA SNP C C G TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr6:29761676C>G ENST00000457107.1 + 0 902 gagagggtttcatattcaaga 0.493000 2 7 0 0 0.115264 0 0 TLE4 7091 broad.mit.edu 37 9 82320809 82320809 + Silent SNP C C T TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr9:82320809C>T ENST00000376520.4 + 10 1563 c.735C>T c.(733-735)agC>agT p.S245S TLE4_ENST00000376552.2_Silent_p.S245S|TLE4_ENST00000265284.6_Silent_p.S220S|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Silent_p.S245S|TLE4_ENST00000376544.3_Intron O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 p.S245S(2) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 TGCAGGACAGCGATGGTGAGA 0.398000 6 129 0 0 0.248553 0 0 NGLY1 55768 broad.mit.edu 37 3 25778887 25778887 + Missense_Mutation SNP T T C TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr3:25778887T>C ENST00000428257.1 - 6 1048 c.941A>G c.(940-942)aAt>aGt p.N314S NGLY1_ENST00000396649.3_Missense_Mutation_p.N314S|NGLY1_ENST00000280700.5_Missense_Mutation_p.N314S|NGLY1_ENST00000422724.2_Missense_Mutation_p.I163V|NGLY1_ENST00000417874.2_Missense_Mutation_p.N272S NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 314 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding p.N314S(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 TGTAAAACAATTGGCCCACTC 0.413000 8 61 0 0 0.307466 0 0 TPO 7173 broad.mit.edu 37 2 1499889 1499889 + Missense_Mutation SNP G G A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr2:1499889G>A ENST00000345913.4 + 12 2226 c.2135G>A c.(2134-2136)gGc>gAc p.G712D TPO_ENST00000382198.1_Missense_Mutation_p.G539D|TPO_ENST00000382201.3_Missense_Mutation_p.G655D|TPO_ENST00000349624.3_Missense_Mutation_p.G539D|TPO_ENST00000346956.3_Missense_Mutation_p.G712D|TPO_ENST00000337415.3_Missense_Mutation_p.G712D|TPO_ENST00000329066.4_Missense_Mutation_p.G712D|TPO_ENST00000497517.2_Intron NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 712 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity p.G712D(1) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TTCCAAGTCGGCAAATTCCCC 0.562000 3 49 0 0 0.115264 0 0 C20orf194 25943 broad.mit.edu 37 20 3236652 3236652 + Splice_Site SNP C C G TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr20:3236652C>G ENST00000252032.9 - 34 3328 c.3261_splice c.e34+1 p.Q1087_splice C20orf194_ENST00000453730.2_3'UTR NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 1087 p.Q1087H(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 TGGAAACCACCTGCTTAGCTG 0.597000 8 27 0 0 0.278610 0 0 TMEM184C 55751 broad.mit.edu 37 4 148545026 148545026 + Missense_Mutation SNP T T G TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr4:148545026T>G ENST00000296582.3 + 2 739 c.165T>G c.(163-165)ttT>ttG p.F55L TMEM184C_ENST00000508208.1_Missense_Mutation_p.F55L NM_018241.2 NP_060711.2 Q9NVA4 T184C_HUMAN transmembrane protein 184C 55 integral to membrane p.F55L(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1) 16 CTGGAATCTTTTTGCTGTTGA 0.323000 23 66 0 0 0.654019 0 0 SLC34A2 10568 broad.mit.edu 37 4 25678365 25678365 + Silent SNP C C T TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr4:25678365C>T ENST00000382051.3 + 13 2117 c.2067C>T c.(2065-2067)gcC>gcT p.A689A SLC34A2_ENST00000504570.1_Silent_p.A688A|SLC34A2_ENST00000503434.1_Silent_p.A688A NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 689 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity p.A689A(1) SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) AATGCACGGCCTTGTAGGGGA 0.562000 T ROS1 NSCLC 12 56 0 0 0.411799 0 0 PTPRT 11122 broad.mit.edu 37 20 40735499 40735499 + Missense_Mutation SNP T T G TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr20:40735499T>G ENST00000373198.3 - 25 3618 c.3383A>C c.(3382-3384)aAt>aCt p.N1128T PTPRT_ENST00000373190.1_Missense_Mutation_p.N1105T|PTPRT_ENST00000373193.3_Missense_Mutation_p.N1109T|PTPRT_ENST00000373201.1_Missense_Mutation_p.N1096T|PTPRT_ENST00000356100.2_Missense_Mutation_p.N1115T|PTPRT_ENST00000373187.1_Missense_Mutation_p.N1106T|PTPRT_ENST00000373184.1_Missense_Mutation_p.N1116T NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1106 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.N1128T(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CACCCCTTCATTCTCGGCCAT 0.562000 4 103 0 0 0.184627 0 0 XPO4 64328 broad.mit.edu 37 13 21436893 21436893 + Silent SNP G G T TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr13:21436893G>T ENST00000400602.2 - 3 315 c.280C>A c.(280-282)Cga>Aga p.R94R XPO4_ENST00000255305.6_Silent_p.R94R|XPO4_ENST00000490513.1_5'UTR NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 94 protein transport cytoplasm|nucleus protein binding p.R67R(1) breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) AGGAATGTTCGCAGAGACTCG 0.433000 9 257 2.17888e-05 2.75564e-05 0.335167 1 0 DDX60L 91351 broad.mit.edu 37 4 169300651 169300651 + Missense_Mutation SNP T T C TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr4:169300651T>C ENST00000511577.1 - 32 4473 c.4226A>G c.(4225-4227)tAt>tGt p.Y1409C DDX60L_ENST00000260184.7_Missense_Mutation_p.Y1409C Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1409 ATP binding|ATP-dependent helicase activity|RNA binding p.Y1409C(1)|p.Y1410C(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TTTATTTAAATAGTCCTAAAA 0.303000 11 15 0 0 0.387290 0 0 SLK 9748 broad.mit.edu 37 10 105761232 105761232 + Missense_Mutation SNP C C A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr10:105761232C>A ENST00000369755.3 + 8 1440 c.895C>A c.(895-897)Ccc>Acc p.P299T SLK_ENST00000335753.4_Missense_Mutation_p.P299T NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 299 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity p.P299T(1) kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TTCCAACAAACCCATCCGAGA 0.388000 7 32 0.00307968 0.00367851 0.278610 1 0 RPS6KA5 9252 broad.mit.edu 37 14 91360831 91360831 + Missense_Mutation SNP T T G TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr14:91360831T>G ENST00000261991.3 - 13 1743 c.1570A>C c.(1570-1572)Atc>Ctc p.I524L RPS6KA5_ENST00000418736.2_Missense_Mutation_p.I524L|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.I445L NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 524 Protein kinase 2. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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 cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.I524L(2) endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) TTCCTCATGATGTAGCTGGCT 0.448000 25 54 0 0 0.667858 0 0 CHAF1A 10036 broad.mit.edu 37 19 4442949 4442949 + Missense_Mutation SNP C C T TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr19:4442949C>T ENST00000301280.5 + 15 2899 c.2798C>T c.(2797-2799)tCc>tTc p.S933F NM_005483.2 NP_005474.2 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 933 Binds to 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|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding p.S933F(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGCCGCTTCCGGAGCTGGG 0.672000 Chromatin Structure 5 18 0 0 0.278610 0 0 BBS10 79738 broad.mit.edu 37 12 76740951 76740951 + Missense_Mutation SNP C C T TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr12:76740951C>T ENST00000393262.3 - 2 897 c.814G>A c.(814-816)Gga>Aga p.G272R NM_024685.3 NP_078961.3 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 272 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding p.G272R(1) endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1) 19 AACTCTGATCCAGAAGTGGAA 0.373000 Bardet-Biedl syndrome 12 26 0 0 0.387290 0 0 IFITM3 10410 broad.mit.edu 37 11 320606 320606 + Missense_Mutation SNP G G T rs149004156 by1000genomes TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr11:320606G>T ENST00000399808.4 - 1 444 c.208C>A c.(208-210)Ccc>Acc p.P70T RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T NM_021034.2 NP_066362.2 Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 70 Interaction with SPP1. response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane p.P70T(3) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGCAGCAGGGGTTCATGAAG 0.632000 4 149 1.76689e-08 2.37426e-08 0.335167 1 0 KRTAP5-9 3846 broad.mit.edu 37 11 71259904 71259904 + Silent SNP C C T TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr11:71259904C>T ENST00000528743.2 + 1 439 c.201C>T c.(199-201)ggC>ggT p.G67G NM_005553.3 NP_005544.4 P26371 KRA59_HUMAN keratin associated protein 5-9 67 8 X 4 AA repeats of C-C-X-P. epidermis development keratin filament p.G67G(1) kidney(1)|large_intestine(1)|lung(6)|prostate(3) 11 CCTGTGGGGGCTCCAAGGGAG 0.627000 8 159 0 0 0.335167 0 0 APLP2 334 broad.mit.edu 37 11 129979414 129979414 + Missense_Mutation SNP C C A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr11:129979414C>A ENST00000263574.5 + 2 268 c.196C>A c.(196-198)Cag>Aag p.Q66K APLP2_ENST00000532456.1_3'UTR|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000345598.5_Missense_Mutation_p.Q66K|APLP2_ENST00000338167.5_Missense_Mutation_p.Q66K|APLP2_ENST00000278756.7_Missense_Mutation_p.Q76K|APLP2_ENST00000528499.1_Missense_Mutation_p.Q66K|APLP2_ENST00000543137.1_5'UTR NM_001642.2 NP_001633.1 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 66 G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity p.Q66K(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) TGTGAACATTCAGACTGGGAA 0.458000 3 46 0.115264 0.133955 0.115264 1 0 FZD6 8323 broad.mit.edu 37 8 104340556 104340556 + Missense_Mutation SNP A A G TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr8:104340556A>G ENST00000358755.4 + 5 1770 c.1453A>G c.(1453-1455)Att>Gtt p.I485V FZD6_ENST00000540287.1_Missense_Mutation_p.I180V|FZD6_ENST00000523739.1_Missense_Mutation_p.I453V|FZD6_ENST00000522566.1_Missense_Mutation_p.I485V NM_001164616.1|NM_003506.3 NP_001158088.1|NP_003497.2 O60353 FZD6_HUMAN frizzled family receptor 6 485 angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.I485V(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) GATGACATTAATTGTTGGCAT 0.358000 14 47 0 0 0.479597 0 0 KCNC4 3749 broad.mit.edu 37 1 110765671 110765671 + Missense_Mutation SNP G G A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr1:110765671G>A ENST00000369787.3 + 2 791 c.764G>A c.(763-765)cGc>cAc p.R255H KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Missense_Mutation_p.R255H|KCNC4_ENST00000438661.2_Missense_Mutation_p.R255H NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 255 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) AATATCGACCGCAACGTGACA 0.567000 4 134 0 0 0.150653 0 0 DNAH7 56171 broad.mit.edu 37 2 196681466 196681467 + Frame_Shift_Ins INS - - A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr2:196681466_196681467insA ENST00000312428.6 - 51 9746_9747 c.9646_9647insT c.(9646-9648)tctfs p.S3216fs NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3216 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATCAGCAAGAGAAAAAAATAGG 0.411 12 95 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19815894 19815895 + RNA INS - - A rs145239076 TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr4:19815894_19815895insA ENST00000511431.1 + 0 288 CTCTGGGCTGTaaaaaaaaaaa 0.416 3 6 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100349724 100349724 + RNA DEL G G - TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr7:100349724delG ENST00000542585.1 + 0 2144 ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CACCCCCACTGAGGAGACCAC 0.537 15 34 --- --- --- --- CD68 968 broad.mit.edu 37 17 7483262 7483263 + Frame_Shift_Del DEL CA CA - rs143998725 TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr17:7483262_7483263delCA ENST00000250092.6 + 2 395_396 c.184_185delCA c.(184-186)cfs p.H62fs CD68_ENST00000380498.6_Frame_Shift_Del_p.H35fs NM_001251.2 NP_001242.2 P34810 CD68_HUMAN CD68 molecule 62 Mucin-like. endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane endometrium(1)|lung(1)|skin(1) 3 Aaccaccactcacaggacaacc 0.564 14 24 --- --- --- --- DNAH7 56171 broad.mit.edu 37 2 196681466 196681467 + Frame_Shift_Ins INS - - A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr2:196681466_196681467insA ENST00000312428.6 - 51 9746_9747 c.9646_9647insT c.(9646-9648)tctfs p.S3216fs NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3216 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATCAGCAAGAGAAAAAAATAGG 0.411 12 95 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100349724 100349724 + RNA DEL G G - TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr7:100349724delG ENST00000542585.1 + 0 2144 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CACCCCCACTGAGGAGACCAC 0.537 15 34 --- --- --- --- HNRNPKP3 0 broad.mit.edu 37 11 43283605 43283606 + RNA INS - - A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr11:43283605_43283606insA ENST00000511537.1 - 0 1329_1330 NR_033868.1 GAAGCAAATGTAAAAAAAAAAA 0.386 4 5 --- --- --- --- RP11-863P13.2 0 broad.mit.edu 37 16 88226611 88226611 + RNA DEL G G - TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr16:88226611delG ENST00000568587.1 - 0 91 tggtggtgatggtggtgatgg 0.522 2 4 --- --- --- --- CD68 968 broad.mit.edu 37 17 7483262 7483263 + Frame_Shift_Del DEL CA CA - rs143998725 TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr17:7483262_7483263delCA ENST00000250092.6 + 2 395_396 c.184_185delCA c.(184-186)cfs p.H62fs CD68_ENST00000380498.6_Frame_Shift_Del_p.H35fs NM_001251.2 NP_001242.2 P34810 CD68_HUMAN CD68 molecule 62 Mucin-like. endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane endometrium(1)|lung(1)|skin(1) 3 Aaccaccactcacaggacaacc 0.564 14 24 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 07cacee5-a87f-4141-a61f-d7e0f69cfc1d g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 2 4 --- --- --- ---