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 CYP3A5 1577 broad.mit.edu 37 7 99272209 99272209 + Splice_Site SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:99272209C>T ENST00000339843.2 - 3 635 c.e3-1 CYP3A5_ENST00000343703.5_Splice_Site|CYP3A5_ENST00000480723.1_Splice_Site|CYP3A5_ENST00000222982.4_Splice_Site|CYP3A5_ENST00000439761.1_Splice_Site cytochrome P450, family 3, subfamily A, polypeptide 5 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) TCCAGAGACCCTGGGAGAGGA 0.393000 11 31 0 0 1 0 0 FABP2 2169 broad.mit.edu 37 4 120243228 120243228 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr4:120243228G>A ENST00000274024.3 - 1 317 c.30C>T c.(28-30)gaC>gaT p.D10D NM_000134.3 NP_000125.2 P12104 FABPI_HUMAN fatty acid binding protein 2, intestinal 10 fatty acid binding breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1) 8 TTTCACTCCGGTCTACCTTCC 0.383000 33 28 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5436188 5436188 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:5436188C>T ENST00000345221.3 - 11 3804 c.3250G>A c.(3250-3252)Ggg>Agg p.G1084R NLRP1_ENST00000262467.5_Missense_Mutation_p.G1088R|NLRP1_ENST00000354411.3_Missense_Mutation_p.G1054R|NLRP1_ENST00000572272.1_Missense_Mutation_p.G1084R|NLRP1_ENST00000577119.1_Missense_Mutation_p.G1054R|NLRP1_ENST00000269280.4_Missense_Mutation_p.G1084R|NLRP1_ENST00000571307.1_5'UTR NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 1084 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GCCACAGGCCCCGTGGGGCCC 0.607000 10 18 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516083 140516083 + Missense_Mutation SNP C C A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr5:140516083C>A ENST00000231134.5 + 1 1284 c.1067C>A c.(1066-1068)cCa>cAa p.P356Q NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 356 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCCCTACCCCAGAAAATGCC 0.527000 25 24 7.07758e-08 7.22619e-08 1 1 0 CYP21A1P 1590 broad.mit.edu 37 6 31975458 31975458 + RNA SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:31975458G>A ENST00000342991.6 + 0 1381 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ATTCAGCAGCGACTGTAGGAG 0.652000 12 28 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245862241 245862241 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:245862241G>A ENST00000366518.4 + 11 5041 c.4937G>A c.(4936-4938)aGg>aAg p.R1646K KIF26B_ENST00000407071.2_Missense_Mutation_p.R2027K Q2KJY2 KI26B_HUMAN kinesin family member 26B 2027 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CGCCAGCAGAGGATCGCCGAG 0.557000 13 24 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142573596 142573596 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:142573596G>A ENST00000359396.3 - 7 1069 c.824C>T c.(823-825)tCg>tTg p.S275L RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 275 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding p.S275L(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) ATAGAGAGTCGAGGTCAGTGG 0.517000 39 70 0 0 1 0 0 SLC52A3 113278 broad.mit.edu 37 20 742420 742420 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:742420C>T ENST00000381944.3 - 4 1363 c.1122G>A c.(1120-1122)ggG>ggA p.G374G SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Silent_p.G374G Q9NQ40 RFT2_HUMAN solute carrier family 52 (riboflavin transporter), member 3 374 sensory perception of sound integral to plasma membrane riboflavin transporter activity TGTTGTAGCCCCCAAAGCAGG 0.632000 10 22 0 0 1 0 0 ARID3C 138715 broad.mit.edu 37 9 34622353 34622353 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:34622353G>A ENST00000378909.2 - 5 1131 c.1039C>T c.(1039-1041)Ccc>Tcc p.P347S NM_001017363.1 NP_001017363.1 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT-like) 347 Pro-rich.|REKLES. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 14 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) CCCCTCAGGGGAACCTTGCCA 0.622000 11 12 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48162523 48162523 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:48162523C>T ENST00000311303.3 - 9 1707 c.1362G>A c.(1360-1362)aaG>aaA p.K454K ABCC12_ENST00000416054.1_Silent_p.K454K|ABCC12_ENST00000448542.1_Silent_p.K454K NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 454 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TCTGCAATTTCTTTGGGGTAC 0.498000 20 35 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784887 82784887 + Missense_Mutation SNP C C A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:82784887C>A ENST00000423517.2 - 2 1407 c.1070G>T c.(1069-1071)gGg>gTg p.G357V PCLO_ENST00000333891.8_Missense_Mutation_p.G357V NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 323 Gln-rich.|Pro-rich. 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 CTTTGTTGTCCCTGGTGGCTG 0.602000 3 26 0.004672 0.00469614 1 1 0 CYP4F24P 388514 broad.mit.edu 37 19 15880779 15880779 + RNA SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:15880779C>T ENST00000595525.1 + 0 529 CYP4F24P_ENST00000587443.2_RNA CAACACCTTCCCATCTTCATC 0.507000 4 18 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126370128 126370128 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr4:126370128G>A ENST00000394329.3 + 9 7970 c.7957G>A c.(7957-7959)Gag>Aag p.E2653K FAT4_ENST00000335110.5_Missense_Mutation_p.E951K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2653 Cadherin 25. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ctCCTCTTACGAGAAACTTGA 0.373000 16 11 0 0 1 0 0 MEMO1 51072 broad.mit.edu 37 2 32093518 32093518 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:32093518G>A ENST00000295065.4 - 9 1115 c.806C>T c.(805-807)tCg>tTg p.S269L MEMO1_ENST00000379383.3_Missense_Mutation_p.S272L|MEMO1_ENST00000490459.1_5'UTR|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000404530.1_Missense_Mutation_p.S269L|MEMO1_ENST00000426310.2_Missense_Mutation_p.S246L NM_015955.2 NP_057039.1 Q9Y316 MEMO1_HUMAN mediator of cell motility 1 269 regulation of microtubule-based process cytosol|nucleus NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 17 Acute lymphoblastic leukemia(172;0.155) ATTCAAAAACGAAAAACTCAT 0.423000 6 7 0 0 1 0 0 SLC12A6 9990 broad.mit.edu 37 15 34628623 34628623 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr15:34628623C>T ENST00000354181.3 - 2 751 c.259G>A c.(259-261)Gat>Aat p.D87N SLC12A6_ENST00000458406.2_Missense_Mutation_p.D28N|SLC12A6_ENST00000397702.2_Missense_Mutation_p.D28N|SLC12A6_ENST00000397707.2_Missense_Mutation_p.D87N|SLC12A6_ENST00000558589.1_Missense_Mutation_p.D78N|SLC12A6_ENST00000560611.1_Missense_Mutation_p.D87N|SLC12A6_ENST00000558667.1_Missense_Mutation_p.D87N Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 87 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) TCGATGACATCCTGGGGGTGA 0.498000 12 13 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47500851 47500851 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr18:47500851C>T ENST00000285039.7 - 10 1490 c.1191G>A c.(1189-1191)gtG>gtA p.V397V NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 397 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GCGCATTGATCACCTGCTGCA 0.587000 24 53 0 0 1 0 0 TRAF6 7189 broad.mit.edu 37 11 36518747 36518747 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:36518747G>A ENST00000526995.1 - 4 763 c.517C>T c.(517-519)Cat>Tat p.H173Y TRAF6_ENST00000348124.5_Missense_Mutation_p.H173Y NM_004620.3 NP_004611.1 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6, E3 ubiquitin protein ligase 173 Interaction with TAX1BP1. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|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 CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1) 27 all_lung(20;0.211) all_hematologic(20;0.107) ATATTAATATGGAATTTTTGG 0.368000 15 11 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72170599 72170599 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:72170599G>A ENST00000537465.1 - 8 1196 c.1038C>T c.(1036-1038)atC>atT p.I346I PMFBP1_ENST00000355636.6_Silent_p.I201I|PMFBP1_ENST00000237353.10_Silent_p.I346I Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 346 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TACCCTTCATGATGTTTCTCT 0.562000 11 18 0 0 1 0 0 KLK15 55554 broad.mit.edu 37 19 51331041 51331041 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:51331041C>T ENST00000326856.4 - 3 200 c.71G>A c.(70-72)gGt>gAt p.G24D KLK15_ENST00000596931.1_Missense_Mutation_p.G24D|KLK15_ENST00000416184.1_Missense_Mutation_p.G25D|KLK15_ENST00000598239.1_Missense_Mutation_p.G25D|KLK15_ENST00000301421.2_Missense_Mutation_p.G25D NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 25 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) ACACTCGTCACCTTCCAGCAA 0.582000 10 33 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18875090 18875090 + Splice_Site SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:18875090G>A ENST00000406451.3 + 20 2608 c.2457_splice c.e20-1 p.D820_splice HDAC9_ENST00000401921.1_Splice_Site_p.D779_splice|HDAC9_ENST00000441542.2_Splice_Site_p.D823_splice|HDAC9_ENST00000432645.2_Splice_Site_p.D820_splice NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 820 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TTCCCTGTAGGATGTTCACCA 0.443000 5 13 0 0 1 0 0 DHX36 170506 broad.mit.edu 37 3 153994657 153994657 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:153994657G>A ENST00000496811.1 - 24 2800 c.2720C>T c.(2719-2721)cCa>cTa p.P907L DHX36_ENST00000329463.5_Missense_Mutation_p.P893L|DHX36_ENST00000308361.6_Missense_Mutation_p.P878L|DHX36_ENST00000544526.1_Missense_Mutation_p.P893L NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 907 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GAGACAGTATGGGGAAACCTC 0.348000 7 21 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20226842 20226842 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:20226842G>A ENST00000245957.5 + 19 2218 c.2142G>A c.(2140-2142)agG>agA p.R714R C20orf26_ENST00000389656.3_Silent_p.R70R|C20orf26_ENST00000377309.2_Silent_p.R70R|C20orf26_ENST00000377293.1_Silent_p.R70R NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 714 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CTGAACAAAGGAAATTTTTAG 0.343000 8 31 0 0 1 0 0 DNAJC10 54431 broad.mit.edu 37 2 183622485 183622485 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:183622485G>A ENST00000264065.6 + 19 2291 c.1876G>A c.(1876-1878)Gaa>Aaa p.E626K NM_018981.1 NP_061854.1 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 626 Thioredoxin 3. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TTGTGCCCAGGAAAACGTTCA 0.333000 18 28 0 0 1 0 0 MSH5-SAPCD1 100532732 broad.mit.edu 37 6 31729911 31729911 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:31729911G>A ENST00000493662.2 + 24 2449 c.2393G>A c.(2392-2394)gGa>gAa p.G798E MSH5_ENST00000395853.1_Missense_Mutation_p.G455E|MSH5-SAPCD1_ENST00000491552.1_3'UTR|MSH5_ENST00000375740.3_Missense_Mutation_p.G769E|MSH5_ENST00000431848.2_Missense_Mutation_p.G480E|MSH5_ENST00000375703.3_Missense_Mutation_p.G782E|MSH5_ENST00000534153.4_Missense_Mutation_p.G798E|MSH5_ENST00000375742.3_Missense_Mutation_p.G798E|MSH5_ENST00000375750.3_Missense_Mutation_p.G781E|MSH5_ENST00000375755.3_Missense_Mutation_p.G781E ATCCGCAGTGGAAAACCCATC 0.488000 16 38 0 0 1 0 0 CEACAM8 1088 broad.mit.edu 37 19 43098946 43098946 + Missense_Mutation SNP C C T rs143763173 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:43098946C>T ENST00000244336.5 - 1 136 c.35G>A c.(34-36)cGc>cAc p.R12H LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 12 immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) CCAGGGGATGCGCCATCTGCA 0.612000 4 135 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15793319 15793319 + Splice_Site SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:15793319G>A ENST00000550308.1 + 6 1026 c.647_splice c.e6+1 p.E216_splice CYP4F12_ENST00000324632.9_Splice_Site_p.E216_splice NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CCATTGTCAGGAGTGAGTTCC 0.498000 26 31 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75898207 75898207 + Missense_Mutation SNP T T G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:75898207T>G ENST00000322507.8 - 8 1177 c.868A>C c.(868-870)Aca>Cca p.T290P COL12A1_ENST00000483888.2_Missense_Mutation_p.T290P|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.T290P NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 290 VWFA 1. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 AGTGAAGGTGTGGAGGCAATT 0.408000 23 50 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28991185 28991185 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr18:28991185C>T ENST00000359747.4 + 14 2215 c.2186C>T c.(2185-2187)cCc>cTc p.P729L RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Intron|RP11-534N16.1_ENST00000581856.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 710 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CAACATCCTCCCTTTTCAGAA 0.607000 16 32 0 0 1 0 0 SEMA3A 10371 broad.mit.edu 37 7 83823866 83823866 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:83823866C>T ENST00000265362.3 - 1 351 c.37G>A c.(37-39)Gga>Aga p.G13R SEMA3A_ENST00000436949.1_Missense_Mutation_p.G13R NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 13 axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 AGTAATACTCCCCAGAAAAGA 0.418000 43 83 0 0 1 0 0 ROCK1 6093 broad.mit.edu 37 18 18622602 18622602 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr18:18622602G>A ENST00000399799.1 - 7 1684 c.744C>T c.(742-744)tcC>tcT p.S248S NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 248 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) CACCACCTTGGGATTTTAATA 0.403000 35 50 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181690896 181690896 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:181690896C>T ENST00000526775.1 + 16 2124 c.1959C>T c.(1957-1959)atC>atT p.I653I CACNA1E_ENST00000357570.5_Silent_p.I604I|CACNA1E_ENST00000367573.2_Silent_p.I653I|CACNA1E_ENST00000367570.1_Silent_p.I653I|CACNA1E_ENST00000367567.4_Silent_p.I260I|CACNA1E_ENST00000358338.5_Silent_p.I604I|CACNA1E_ENST00000360108.3_Silent_p.I653I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 653 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 TTTTGTAGATCCTGACGGGTG 0.532000 30 35 0 0 1 0 0 C17orf47 284083 broad.mit.edu 37 17 56620078 56620078 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:56620078C>T ENST00000321691.3 - 1 1651 c.1470G>A c.(1468-1470)gaG>gaA p.E490E RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 490 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) AACTTGGAAACTCCTTTGGTG 0.468000 113 160 0 0 1 0 0 PSG1 5669 broad.mit.edu 37 19 43376041 43376041 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:43376041G>A ENST00000244296.2 - 3 724 c.587C>T c.(586-588)tCc>tTc p.S196F PSG1_ENST00000595124.1_Intron|PSG1_ENST00000595356.1_Missense_Mutation_p.S196F|PSG1_ENST00000312439.6_Missense_Mutation_p.S196F|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000436291.2_Missense_Mutation_p.S196F NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) GTTGGTTTCGGACAGCTTCAA 0.522000 103 169 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107720083 107720083 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:107720083G>A ENST00000388781.3 - 15 1933 c.1850C>T c.(1849-1851)cCt>cTt p.P617L LAMB4_ENST00000414450.2_Missense_Mutation_p.P617L|LAMB4_ENST00000388780.3_Missense_Mutation_p.P617L|LAMB4_ENST00000205386.4_Missense_Mutation_p.P617L NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 617 Laminin IV type B. 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 GAAGTCCACAGGAAAGGGAAT 0.473000 10 29 0 0 1 0 0 ZNF746 155061 broad.mit.edu 37 7 149172180 149172180 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:149172180G>A ENST00000340622.3 - 7 1510 c.1230C>T c.(1228-1230)gcC>gcT p.A410A ZNF746_ENST00000458143.2_Silent_p.A411A Q6NUN9 ZN746_HUMAN zinc finger protein 746 410 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GGTCCAAGATGGCCTCTCCGT 0.632000 7 6 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 121001176 121001176 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:121001176C>T ENST00000273666.6 + 20 2445 c.2174C>T c.(2173-2175)tCc>tTc p.S725F STXBP5L_ENST00000472879.1_Intron|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S725F|STXBP5L_ENST00000471454.1_Intron|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S725F NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 725 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) ATCCGTACTTCCTATCAGAGT 0.393000 13 18 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41054925 41054925 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr5:41054925G>A ENST00000399564.4 - 11 1501 c.1051C>T c.(1051-1053)Cac>Tac p.H351Y MROH2B_ENST00000506092.2_Intron NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GAAATGATGTGATCCCTCAAC 0.373000 13 6 0 0 1 0 0 OLFML2B 25903 broad.mit.edu 37 1 161967678 161967678 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:161967678C>T ENST00000294794.3 - 6 1834 c.1411G>A c.(1411-1413)Gga>Aga p.G471R OLFML2B_ENST00000367940.2_Missense_Mutation_p.G472R NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 471 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GGGGTTGTTCCCCACCCAGCA 0.567000 61 115 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179481212 179481212 + Nonsense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:179481212C>T ENST00000589042.1 - 257 48530 c.48306G>A c.(48304-48306)tgG>tgA p.W16102* TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W7037*|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W13534*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W7229*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W7162*|TTN_ENST00000591111.1_Nonsense_Mutation_p.W14461*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14461 Ig-like 99. 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) TCACTTTAGTCCATGTTTTCC 0.438000 29 52 0 0 1 0 0 SLC35F6 54978 broad.mit.edu 37 2 26998033 26998033 + Missense_Mutation SNP T T A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:26998033T>A ENST00000344420.5 + 3 334 c.272T>A c.(271-273)tTc>tAc p.F91Y SLC35F6_ENST00000482746.1_Intron|CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000416475.2_Intron NM_017877.3 NP_060347.2 solute carrier family 35, member F6 CCTCTTCTTTTCCTGCCCCCA 0.592000 27 32 0 0 1 0 0 AKR1B10 57016 broad.mit.edu 37 7 134216685 134216685 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:134216685C>T ENST00000359579.4 + 3 580 c.260C>T c.(259-261)cCc>cTc p.P87L AKR1B10_ENST00000475559.1_3'UTR NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 87 P -> S (in dbSNP:rs2303312). cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 TTTGAGAGACCCCTTGTGAGG 0.463000 23 52 0 0 1 0 0 OPLAH 26873 broad.mit.edu 37 8 145113487 145113487 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:145113487C>T ENST00000426825.1 - 6 776 c.695G>A c.(694-696)gGg>gAg p.G232E OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 232 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) GGCCGTGTGCCCCCGAGGGAC 0.677000 14 28 0 0 1 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36155840 36155840 + Missense_Mutation SNP G G C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr14:36155840G>C ENST00000258840.6 - 19 2998 c.2608C>G c.(2608-2610)Cct>Gct p.P870A RALGAPA1_ENST00000382366.3_Intron|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P823A|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P823A Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 823 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CTATTAAGAGGAGGCAGTTTT 0.353000 7 3 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186938046 186938046 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:186938046C>T ENST00000337774.5 - 16 2302 c.1913G>A c.(1912-1914)gGa>gAa p.G638E NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 638 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) GGCGTCCTTTCCCCCTAGGTG 0.537000 OREG0015972 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 4 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238245168 238245168 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:238245168G>A ENST00000295550.4 - 40 9027 c.8575C>T c.(8575-8577)Ccg>Tcg p.P2859S COL6A3_ENST00000472056.1_Missense_Mutation_p.P2252S|COL6A3_ENST00000409809.1_Missense_Mutation_p.P2653S|COL6A3_ENST00000347401.3_Missense_Mutation_p.P2658S|COL6A3_ENST00000353578.4_Missense_Mutation_p.P2653S|COL6A3_ENST00000346358.4_Missense_Mutation_p.P2659S NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2859 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACGTTATTCGGAACATTTCTG 0.393000 37 50 0 0 1 0 0 E4F1 1877 broad.mit.edu 37 16 2282857 2282857 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:2282857C>T ENST00000301727.4 + 6 879 c.831C>T c.(829-831)atC>atT p.I277I E4F1_ENST00000565090.1_Silent_p.I277I|E4F1_ENST00000564139.1_Silent_p.I277I NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 277 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 CAGAGAAAATCCGCTTCAGTG 0.612000 34 29 0 0 1 0 0 CFHR1 3078 broad.mit.edu 37 1 196796131 196796131 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:196796131C>T ENST00000320493.5 + 3 514 c.426C>T c.(424-426)tcC>tcT p.S142S CFHR1_ENST00000367424.3_Silent_p.S142S|CFHR1_ENST00000498248.1_3'UTR|CFHR2_ENST00000367421.3_Intron NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 142 Sushi 2. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 AATGCAGGTCCACTGGTAAGT 0.373000 16 41 0 0 1 0 0 CCDC87 55231 broad.mit.edu 37 11 66359343 66359343 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:66359343G>A ENST00000333861.3 - 1 1211 c.1144C>T c.(1144-1146)Ctg>Ttg p.L382L NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 382 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 ACAACCCCCAGGAGAGGAGGC 0.592000 24 36 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21098343 21098343 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:21098343C>T ENST00000261383.3 - 19 2703 c.2704G>A c.(2704-2706)Gag>Aag p.E902K DNAH3_ENST00000415178.1_Missense_Mutation_p.E902K NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 902 Stem (By similarity). 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) TTCCCTATCTCCTCCGCAATT 0.463000 41 71 0 0 1 0 0 LRPPRC 10128 broad.mit.edu 37 2 44128516 44128516 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:44128516G>A ENST00000260665.7 - 32 3569 c.3512C>T c.(3511-3513)tCc>tTc p.S1171F NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 1171 RNA-binding. mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AAGTCCAATGGAGTCTTCGAG 0.393000 22 37 0 0 1 0 0 MS4A15 219995 broad.mit.edu 37 11 60531279 60531279 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:60531279C>T ENST00000405633.3 + 2 152 c.73C>T c.(73-75)Cct>Tct p.P25S MS4A15_ENST00000528170.1_Missense_Mutation_p.P25S|MS4A15_ENST00000337911.4_Intron NM_001098835.1 NP_001092305.1 Q8N5U1 M4A15_HUMAN membrane-spanning 4-domains, subfamily A, member 15 25 integral to membrane receptor activity breast(1)|large_intestine(2)|lung(3) 6 CCTCTGCCCACCTCCGGCCAT 0.602000 50 63 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803655 185803655 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:185803655C>T ENST00000302277.6 + 4 4126 c.3532C>T c.(3532-3534)Cat>Tat p.H1178Y NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1178 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TTCCGTTCTTCATCCTAGCCA 0.512000 51 70 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43748789 43748789 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr15:43748789G>A ENST00000263801.3 - 12 2254 c.2002C>T c.(2002-2004)Cct>Tct p.P668S TP53BP1_ENST00000382039.3_Missense_Mutation_p.P673S|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P673S|TP53BP1_ENST00000450115.2_Missense_Mutation_p.P673S NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 668 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GGTGTCTCAGGGATTTCTTCC 0.458000 Other conserved DNA damage response genes 29 53 0 0 1 0 0 CCL8 6355 broad.mit.edu 37 17 32647341 32647341 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:32647341C>T ENST00000394620.1 + 2 596 c.130C>T c.(130-132)Cct>Tct p.P44S NM_005623.2 NP_005614.2 P80075 CCL8_HUMAN chemokine (C-C motif) ligand 8 44 calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus extracellular space chemokine activity|heparin binding|signal transducer activity NS(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Ovarian(249;0.0443)|Breast(31;0.151) TAGGAAAATTCCTATCCAGAG 0.443000 12 27 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156631888 156631888 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr4:156631888C>T ENST00000296518.7 + 6 780 c.571C>T c.(571-573)Cta>Tta p.L191L GUCY1A3_ENST00000506455.1_Silent_p.L191L|GUCY1A3_ENST00000513574.1_Silent_p.L191L|GUCY1A3_ENST00000511108.1_Silent_p.L191L|GUCY1A3_ENST00000455639.2_Silent_p.L191L|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511507.1_Silent_p.L191L Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 191 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) CGCCTCCATTCTATGCCTGGA 0.463000 12 4 0 0 1 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36155855 36155855 + Missense_Mutation SNP T T G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr14:36155855T>G ENST00000258840.6 - 19 2983 c.2593A>C c.(2593-2595)Agc>Cgc p.S865R RALGAPA1_ENST00000382366.3_Intron|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S818R|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S818R Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 818 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AGTTTTTGGCTCATGTCCTCT 0.348000 8 2 0 0 1 0 0 TRPM5 29850 broad.mit.edu 37 11 2432922 2432922 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:2432922G>A ENST00000452833.1 - 17 2564 c.2556C>T c.(2554-2556)atC>atT p.I852I TRPM5_ENST00000155858.6_Silent_p.I850I|TRPM5_ENST00000533060.1_Silent_p.I850I|TRPM5_ENST00000528453.1_Silent_p.I850I Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 850 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CAAAGATATGGATCAGCCGCA 0.642000 34 14 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89347696 89347696 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:89347696G>A ENST00000301030.4 - 9 5714 c.5254C>T c.(5254-5256)Ccc>Tcc p.P1752S ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1752S NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1752 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GCGCTGGTGGGAGCGGTGGGC 0.667000 22 46 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50400980 50400980 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:50400980G>A ENST00000217086.4 - 4 3097 c.2986C>T c.(2986-2988)Cct>Tct p.P996S SALL4_ENST00000395997.3_Missense_Mutation_p.P559S|SALL4_ENST00000371539.3_Missense_Mutation_p.P219S NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 996 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGGAGGGTAGGAACCCCCCCA 0.557000 17 30 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6061031 6061031 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:6061031G>A ENST00000261405.5 - 50 8388 c.8134C>T c.(8134-8136)Cca>Tca p.P2712S NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2712 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CAGGTGCCTGGAATTTTCATA 0.443000 14 44 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47882633 47882633 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:47882633G>A ENST00000289672.2 - 34 5422 c.5372C>T c.(5371-5373)tCc>tTc p.S1791F NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1791 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GCCCGGCAGGGAAGCTTCTTG 0.473000 8 18 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7416106 7416106 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:7416106C>T ENST00000322644.6 + 28 5019 c.4620C>T c.(4618-4620)acC>acT p.T1540T NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 1540 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) GTGGAATGACCCCAGGGGCAG 0.632000 36 70 0 0 1 0 0 MYF6 4618 broad.mit.edu 37 12 81101802 81101802 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:81101802G>A ENST00000228641.3 + 1 526 c.304G>A c.(304-306)Gaa>Aaa p.E102K NM_002469.2 NP_002460.1 P23409 MYF6_HUMAN myogenic factor 6 (herculin) 102 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 CACCCTGCGCGAAAGGAGGAG 0.607000 23 36 0 0 1 0 0 TRBV6-6 28601 broad.mit.edu 37 7 142162077 142162077 + RNA SNP A A T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:142162077A>T ENST00000390371.3 - 0 241 CAACTGAATAATAAATCAGCT 0.483000 67 91 0 0 1 0 0 IQCG 84223 broad.mit.edu 37 3 197659062 197659062 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:197659062G>A ENST00000265239.6 - 6 1051 c.627C>T c.(625-627)ttC>ttT p.F209F IQCG_ENST00000455191.1_Silent_p.F209F|IQCG_ENST00000453254.1_Silent_p.F209F NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 209 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) TGATGTCATAGAAATGCATTT 0.393000 28 15 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70981045 70981045 + Missense_Mutation SNP G G A rs3960114 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:70981045G>A ENST00000334414.6 - 9 2097 c.2053C>T c.(2053-2055)Ccc>Tcc p.P685S PTPRB_ENST00000550857.1_Missense_Mutation_p.P377S|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000261266.5_Missense_Mutation_p.P467S|PTPRB_ENST00000451516.2_Missense_Mutation_p.P377S|PTPRB_ENST00000550358.1_Missense_Mutation_p.P685S|PTPRB_ENST00000551525.1_Missense_Mutation_p.P684S|PTPRB_ENST00000538708.1_Missense_Mutation_p.P467S NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 467 Fibronectin type-III 8. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.P467S(2)|p.P685S(1) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ACAGCCAGGGGGACTGAGGAA 0.458000 11 9 0 0 1 0 0 SAMHD1 25939 broad.mit.edu 37 20 35533870 35533870 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:35533870G>A ENST00000262878.4 - 12 1506 c.1307C>T c.(1306-1308)cCc>cTc p.P436L NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 436 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) TTTCAATTTGGGATCAGTAGA 0.299000 13 31 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228528583 228528583 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:228528583C>T ENST00000570156.2 + 83 20636 c.20562C>T c.(20560-20562)atC>atT p.I6854I OBSCN_ENST00000366709.4_Silent_p.I3016I|OBSCN_ENST00000366707.4_Silent_p.I3531I|OBSCN_ENST00000422127.1_Silent_p.I5897I|OBSCN_ENST00000284548.11_Silent_p.I5897I NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5897 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCGAGCCCATCCGCCAGGTTG 0.672000 5 5 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75688769 75688769 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr15:75688769G>A ENST00000394947.3 - 13 2237 c.1923C>T c.(1921-1923)tcC>tcT p.S641S SIN3A_ENST00000360439.4_Silent_p.S641S|SIN3A_ENST00000394949.4_Silent_p.S641S NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 641 Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130. blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 CAGACAAGCGGGAAAGCTTCT 0.463000 18 36 0 0 1 0 0 VPREB1 7441 broad.mit.edu 37 22 22599596 22599596 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr22:22599596G>A ENST00000403807.3 + 2 424 c.285G>A c.(283-285)agG>agA p.R95R VPREB1_ENST00000302273.2_Silent_p.R94R P12018 VPREB_HUMAN pre-B lymphocyte 1 95 Framework-3.|Ig-like V-type. immune response extracellular region antigen binding|protein binding large_intestine(1)|liver(1)|lung(6)|skin(1) 9 all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155) all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52) READ - Rectum adenocarcinoma(21;0.145) ATGTGGCCAGGAACAGGGGGT 0.582000 20 25 0 0 1 0 0 JAK2 3717 broad.mit.edu 37 9 5123046 5123046 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:5123046C>T ENST00000381652.3 + 23 3596 c.3102C>T c.(3100-3102)gcC>gcT p.A1034A JAK2_ENST00000539801.1_Silent_p.A1034A|JAK2_ENST00000544510.1_Silent_p.A885A NM_004972.3 NP_004963.1 O60674 JAK2_HUMAN Janus kinase 2 1034 Protein kinase 2. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1) 32998 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) TTTCTGTGGCCTCAGATGTTT 0.373000 1 """T, Mis, O""" """ETV6, PCM1, BCR""" """ALL, AML, MPD, CML""" Polycythemia Vera, Familial 12 12 0 0 1 0 0 ZAK 51776 broad.mit.edu 37 2 174125863 174125863 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:174125863G>A ENST00000375213.3 + 18 1627 c.1549G>A c.(1549-1551)Gag>Aag p.E517K MLTK_ENST00000409176.2_Missense_Mutation_p.E517K|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA NM_016653.2 NP_057737.2 TGTCACATATGAGGTAAGCTC 0.403000 14 25 0 0 1 0 0 C6orf165 154313 broad.mit.edu 37 6 88125461 88125461 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:88125461G>A ENST00000507897.1 + 5 424 c.341G>A c.(340-342)cGa>cAa p.R114Q C6ORF165_ENST00000369562.4_Missense_Mutation_p.R114Q Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 114 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TCTGTTACCCGAGAAATTACA 0.398000 24 30 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56515402 56515402 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:56515402G>A ENST00000390649.3 + 2 383 c.383G>A c.(382-384)aGc>aAc p.S128N NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 128 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) ACGTCCATTAGCATCTTTGAA 0.507000 15 30 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111689212 111689212 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:111689212G>A ENST00000435970.1 - 16 6361 c.5545C>T c.(5545-5547)Ctc>Ttc p.L1849F REV3L_ENST00000368805.1_Missense_Mutation_p.L1927F|REV3L_ENST00000368802.3_Missense_Mutation_p.L1927F|REV3L_ENST00000358835.3_Missense_Mutation_p.L1927F O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1927 Mediates interaction with MAD2L2. DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TCTACCATGAGGAGCCGTCCA 0.383000 DNA polymerases (catalytic subunits) 12 13 0 0 1 0 0 TIMM44 10469 broad.mit.edu 37 19 7998826 7998826 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:7998826C>T ENST00000270538.3 - 6 874 c.606G>A c.(604-606)cgG>cgA p.R202R NM_006351.3 NP_006342.2 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 homolog (yeast) 202 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 17 GCTGGGGCCTCCGGTAGGGCC 0.622000 20 30 0 0 1 0 0 B4GALNT4 338707 broad.mit.edu 37 11 379575 379575 + Missense_Mutation SNP G G T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:379575G>T ENST00000329962.6 + 15 2362 c.2362G>T c.(2362-2364)Gat>Tat p.D788Y NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 788 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCGCGTAGGGGATGCAGACGG 0.746000 6 1 8.12818e-05 8.19136e-05 1 1 0 PLAG1 5324 broad.mit.edu 37 8 57079381 57079381 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:57079381G>A ENST00000316981.3 - 5 1403 c.924C>T c.(922-924)atC>atT p.I308I PLAG1_ENST00000423799.2_Silent_p.I226I|PLAG1_ENST00000429357.2_Silent_p.I308I NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 308 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) GTAAAGTTGTGATCATTTGGT 0.428000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 50 75 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814408 106814408 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:106814408G>A ENST00000407775.2 + 8 2348 c.2098G>A c.(2098-2100)Gaa>Aaa p.E700K RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E568K|ZFPM2_ENST00000378472.4_Missense_Mutation_p.E431K|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E568K|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 700 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CAGCCGGCACGAAACATACAT 0.488000 9 15 0 0 1 0 0 SULT2B1 6820 broad.mit.edu 37 19 49079341 49079341 + Splice_Site SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:49079341G>A ENST00000323090.4 + 1 544 c.e1+1 SULT2B1_ENST00000201586.2_Splice_Site NM_004605.2 NP_004596.2 O00204 ST2B1_HUMAN sulfotransferase family, cytosolic, 2B, member 1 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 11 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178) CCCAAGTCAGGTACCTGCCGG 0.622000 32 42 0 0 1 0 0 RIMKLA 284716 broad.mit.edu 37 1 42880551 42880551 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:42880551C>T ENST00000431473.3 + 5 1211 c.1082C>T c.(1081-1083)tCc>tTc p.S361F NM_173642.3 NP_775913.2 Q8IXN7 RIMKA_HUMAN ribosomal modification protein rimK-like family member A 361 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 ATCCGGGATTCCTCAGCAAGC 0.512000 28 22 0 0 1 0 0 GRHL1 29841 broad.mit.edu 37 2 10091971 10091971 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:10091971G>A ENST00000324907.9 + 1 145 c.9G>A c.(7-9)caG>caA p.Q3Q GRHL1_ENST00000405379.2_Intron|GRHL1_ENST00000324883.5_5'UTR NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 3 Transcription activation. cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) CGATGACACAGGAGTACGACA 0.751000 8 16 0 0 1 0 0 KCNV1 27012 broad.mit.edu 37 8 110980759 110980759 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:110980759G>A ENST00000524391.1 - 4 2093 c.1061C>T c.(1060-1062)tCc>tTc p.S354F KCNV1_ENST00000297404.1_Missense_Mutation_p.S354F Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 354 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) GATTCCCACGGATAGAAATAG 0.473000 12 27 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128389909 128389909 + Missense_Mutation SNP T T C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:128389909T>C ENST00000389524.4 + 38 5316 c.5263T>C c.(5263-5265)Ttt>Ctt p.F1755L MYO7B_ENST00000409816.2_Missense_Mutation_p.F1754L|MYO7B_ENST00000428314.1_Missense_Mutation_p.F1754L|MYO7B_ENST00000409090.1_Missense_Mutation_p.F607L Q6PIF6 MYO7B_HUMAN myosin VIIB 1754 MyTH4 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) TGCCCAGAAGTTTATAGACAC 0.667000 44 60 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141819654 141819654 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:141819654C>T ENST00000389484.3 - 8 2173 c.1202G>A c.(1201-1203)gGa>gAa p.G401E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 401 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCTATTTTTTCCTTGATAGTC 0.393000 TSP Lung(27;0.18) 35 46 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133152325 133152325 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:133152325G>A ENST00000388996.4 - 11 1986 c.1566C>T c.(1564-1566)gtC>gtT p.V522V KCNQ3_ENST00000521134.1_Silent_p.V402V|KCNQ3_ENST00000519445.1_Silent_p.V522V NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 522 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GGCATTACCTGACGGCTCGGA 0.592000 18 39 0 0 1 0 0 TCEAL2 140597 broad.mit.edu 37 X 101381968 101381968 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chrX:101381968G>A ENST00000372780.1 + 3 385 c.166G>A c.(166-168)Gaa>Aaa p.E56K TCEAL2_ENST00000329035.2_Missense_Mutation_p.E56K NM_080390.3 NP_525129.1 Q9H3H9 TCAL2_HUMAN transcription elongation factor A (SII)-like 2 56 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 GAGAGTTGAGGAACCGTTAAA 0.473000 12 3 0 0 1 0 0 CHODL 140578 broad.mit.edu 37 21 19629108 19629108 + Nonsense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr21:19629108G>A ENST00000299295.2 + 2 753 c.362G>A c.(361-363)tGg>tAg p.W121* CHODL_ENST00000400127.1_Nonsense_Mutation_p.W80*|CHODL_ENST00000400128.1_Nonsense_Mutation_p.W80*|CHODL_ENST00000543733.1_Nonsense_Mutation_p.W102*|CHODL_ENST00000338326.3_Nonsense_Mutation_p.W80*|CHODL_ENST00000400135.1_Nonsense_Mutation_p.W80*|CHODL_ENST00000400131.1_Nonsense_Mutation_p.W80* NM_001204175.1|NM_024944.2 NP_001191104.1|NP_079220.2 Q9H9P2 CHODL_HUMAN chondrolectin 121 C-type lectin. muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) CTCTACCAGTGGTCTGATGGA 0.517000 40 34 0 0 1 0 0 TTLL4 9654 broad.mit.edu 37 2 219617604 219617604 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:219617604C>T ENST00000392102.1 + 17 3435 c.3095C>T c.(3094-3096)tCc>tTc p.S1032F TTLL4_ENST00000457313.1_Missense_Mutation_p.S867F|TTLL4_ENST00000442769.1_Missense_Mutation_p.S968F|TTLL4_ENST00000258398.4_Missense_Mutation_p.S1032F NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 1032 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) TCTCATATCTCCTCTCGCTAT 0.448000 33 68 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147092129 147092129 + Missense_Mutation SNP A A C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:147092129A>C ENST00000234739.3 + 8 2908 c.2168A>C c.(2167-2169)aAt>aCt p.N723T NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 723 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GTCAATCTAAATGTCAACATG 0.527000 T """IGH@, IGL@""" B-ALL 10 21 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48142390 48142390 + Missense_Mutation SNP T T A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:48142390T>A ENST00000311303.3 - 17 2677 c.2332A>T c.(2332-2334)Acc>Tcc p.T778S ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.T775S NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 778 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) GTTTTCCAGGTCACGGTTCCT 0.458000 16 27 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242287823 242287823 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:242287823C>T ENST00000442594.2 - 7 1113 c.604G>A c.(604-606)Gaa>Aaa p.E202K PLD5_ENST00000536534.1_Missense_Mutation_p.E294K|PLD5_ENST00000427495.1_Missense_Mutation_p.E232K NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 294 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) AATTTCTTTTCATTGTCATAG 0.378000 17 20 0 0 1 0 0 KGFLP2 654466 broad.mit.edu 37 9 41962611 41962611 + RNA SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:41962611C>T ENST00000454645.1 - 0 893 NR_003670.1 TGTTTTTTTTCCTCTTACAGG 0.373000 3 14 0 0 1 0 0 IL37 27178 broad.mit.edu 37 2 113676334 113676334 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:113676334C>T ENST00000263326.3 + 5 647 c.605C>T c.(604-606)tCa>tTa p.S202L IL37_ENST00000353225.3_Missense_Mutation_p.S162L|IL37_ENST00000352179.3_Missense_Mutation_p.S181L|IL37_ENST00000349806.3_Missense_Mutation_p.S141L|IL37_ENST00000311328.2_Missense_Mutation_p.S176L NM_014439.3 NP_055254.2 Q9NZH6 IL37_HUMAN interleukin 37 202 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 ATTGAATTTTCATTTCAACCA 0.458000 16 25 0 0 1 0 0 SEPP1 6414 broad.mit.edu 37 5 42804856 42804856 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr5:42804856G>A ENST00000514985.1 - 4 692 c.436C>T c.(436-438)Cat>Tat p.H146Y SEPP1_ENST00000507920.1_Intron|SEPP1_ENST00000511224.1_Missense_Mutation_p.H146Y|SEPP1_ENST00000506577.1_Missense_Mutation_p.H146Y|SEPP1_ENST00000509276.1_5'UTR NM_005410.2 NP_005401.3 P49908 SEPP1_HUMAN selenoprotein P, plasma, 1 146 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 AAACCAAGATGATATACAAGA 0.368000 22 4 0 0 1 0 0 GGA3 23163 broad.mit.edu 37 17 73237572 73237572 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:73237572G>A ENST00000245541.6 - 10 1071 c.855C>T c.(853-855)aaC>aaT p.N285N GGA3_ENST00000578348.1_Silent_p.N163N|GGA3_ENST00000537686.1_3'UTR|GGA3_ENST00000538886.1_Silent_p.N163N|GGA3_ENST00000351904.7_Silent_p.N252N|GGA3_ENST00000582717.1_Silent_p.N213N|GGA3_ENST00000582486.1_Silent_p.N213N NM_138619.2 NP_619525.1 Q9NZ52 GGA3_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 3 285 Binds to ARF1 (in long isoform).|GAT. 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) CCCGGGAGAGGTTGTCACTGG 0.517000 55 24 0 0 1 0 0 ZNF415 55786 broad.mit.edu 37 19 53613010 53613010 + Silent SNP A A G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:53613010A>G ENST00000455735.2 - 7 752 c.432T>C c.(430-432)ttT>ttC p.F144F ZNF415_ENST00000440291.1_Silent_p.F83F|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000500065.4_Silent_p.F96F|ZNF415_ENST00000243643.4_Silent_p.F96F|ZNF415_ENST00000448501.1_Silent_p.F144F|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000601215.1_3'UTR|ZNF415_ENST00000421033.1_Silent_p.F108F Q09FC8 ZN415_HUMAN zinc finger protein 415 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) ACTGACAGTCAAAGTCGTGTA 0.398000 19 40 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61747770 61747770 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:61747770C>T ENST00000577390.1 - 10 2583 c.1629G>A c.(1627-1629)ccG>ccA p.P543P CDH8_ENST00000299345.6_Silent_p.P543P|CDH8_ENST00000580044.1_5'UTR|CDH8_ENST00000577730.1_Silent_p.P543P NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 543 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P543P(1) biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TGGTGAAATTCGGATTGTTGA 0.333000 8 13 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187594 152187594 + Missense_Mutation SNP C C G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:152187594C>G ENST00000368801.2 - 3 6586 c.6511G>C c.(6511-6513)Ggc>Cgc p.G2171R FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2171 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) CGGCCGTGGCCCGAAGACTGA 0.627000 34 696 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43699242 43699242 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:43699242G>A ENST00000405312.3 - 4 1130 c.893C>T c.(892-894)cCc>cTc p.P298L PSG4_ENST00000433626.2_Missense_Mutation_p.P205L|PSG4_ENST00000244295.9_Intron NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 298 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) CGTGACATTGGGTAGAATGAG 0.483000 75 19 0 0 1 0 0 BTN3A1 11119 broad.mit.edu 37 6 26413719 26413719 + Silent SNP C C A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:26413719C>A ENST00000289361.6 + 10 1709 c.1341C>A c.(1339-1341)ccC>ccA p.P447P BTN3A1_ENST00000414912.2_Silent_p.P395P NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 447 B30.2/SPRY. lipid metabolic process integral to membrane breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 TAACTGAGCCCAGAACCAACC 0.478000 27 68 7.92952e-12 8.18192e-12 1 1 0 KIAA0907 22889 broad.mit.edu 37 1 155883916 155883916 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:155883916G>A ENST00000368321.3 - 14 1864 c.1841C>T c.(1840-1842)cCc>cTc p.P614L KIAA0907_ENST00000368320.3_3'UTR NM_014949.2 NP_055764.2 Q7Z7F0 K0907_HUMAN KIAA0907 614 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TGTTTCCTAGGGAGCCATCCA 0.448000 13 25 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171218 207171218 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:207171218C>T ENST00000374423.3 + 5 2352 c.1966C>T c.(1966-1968)Ctt>Ttt p.L656F NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 656 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 GAATGCTGACCTTATGGATAT 0.433000 18 23 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55533563 55533563 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:55533563C>T ENST00000220676.1 + 2 185 c.37C>T c.(37-39)Cat>Tat p.H13Y NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 13 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTCCATCATTCATCCTACGTC 0.463000 37 51 0 0 1 0 0 PSTPIP2 9050 broad.mit.edu 37 18 43585483 43585483 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr18:43585483C>T ENST00000409746.5 - 6 440 c.369G>A c.(367-369)atG>atA p.M123I PSTPIP2_ENST00000589328.1_Missense_Mutation_p.M123I|PSTPIP2_ENST00000588801.1_5'UTR NM_024430.3 NP_077748.3 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting protein 2 123 membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 GGATAGCATCCATTATGAGCT 0.294000 6 9 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179623779 179623779 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:179623779C>T ENST00000589042.1 - 44 10459 c.10235G>A c.(10234-10236)gGa>gAa p.G3412E TTN_ENST00000360870.5_Missense_Mutation_p.G3412E|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G3366E|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G3412E|TTN_ENST00000342175.6_Missense_Mutation_p.G3366E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G3366E|TTN_ENST00000591111.1_Missense_Mutation_p.G3412E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3125 Ig-like 20. 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) CGTGTAAGTTCCTTCATCTTC 0.398000 25 32 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8791862 8791862 + Silent SNP G G A rs139885994 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:8791862G>A ENST00000447110.1 - 10 1366 c.1242C>T c.(1240-1242)caC>caT p.H414H PIK3R5_ENST00000584803.1_Silent_p.H414H|PIK3R5_ENST00000581552.1_Silent_p.H414H NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 414 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 CAGGCCTGCGGTGGCCTCGGC 0.637000 7 5 0 0 1 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243471382 243471382 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:243471382C>T ENST00000366541.3 + 8 950 c.832C>T c.(832-834)Cgt>Tgt p.R278C SDCCAG8_ENST00000355875.4_Missense_Mutation_p.R235C|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.R278C|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.R133C NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 278 Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) TACTTGTAACCGTGTTGGTGG 0.378000 40 56 0 0 1 0 0 DNASE1L2 1775 broad.mit.edu 37 16 2286876 2286876 + Missense_Mutation SNP C C A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:2286876C>A ENST00000564065.1 + 1 1060 c.59C>A c.(58-60)gCc>gAc p.A20D DNASE1L2_ENST00000567494.1_Missense_Mutation_p.A20D|RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000320700.5_Missense_Mutation_p.A20D|DNASE1L2_ENST00000382437.4_Missense_Mutation_p.A20D Q92874 DNSL2_HUMAN deoxyribonuclease I-like 2 20 DNA catabolic process extracellular region calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding endometrium(1)|prostate(1)|skin(2) 4 GCCGGGACCGCCGCGCTTCGC 0.711000 7 12 8.12818e-05 8.19136e-05 1 1 0 MAGEC3 139081 broad.mit.edu 37 X 140985038 140985038 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chrX:140985038C>T ENST00000298296.1 + 7 1494 c.1494C>T c.(1492-1494)ttC>ttT p.F498F MAGEC3_ENST00000544766.1_Silent_p.F200F|MAGEC3_ENST00000536088.1_Silent_p.F200F|MAGEC3_ENST00000443323.2_Silent_p.F120F|MAGEC3_ENST00000409007.1_Silent_p.F200F NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 498 MAGE 2. p.F498F(1)|p.F200F(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) CCATGATCTTCGGGAAAGCCC 0.423000 32 14 0 0 1 0 0 AQP9 366 broad.mit.edu 37 15 58467155 58467155 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr15:58467155G>A ENST00000219919.4 + 4 785 c.415G>A c.(415-417)Gtg>Atg p.V139M ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.V74M|AQP9_ENST00000536493.1_Missense_Mutation_p.V139M NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 139 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity p.V139M(1) endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) ACTGCTGATCGTGGGAGAAAA 0.453000 20 25 0 0 1 0 0 AURKA 6790 broad.mit.edu 37 20 54956600 54956600 + Silent SNP A A C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:54956600A>C ENST00000395909.4 - 8 1159 c.594T>G c.(592-594)ggT>ggG p.G198G AURKA_ENST00000395913.3_Silent_p.G198G|AURKA_ENST00000347343.2_Silent_p.G198G|AURKA_ENST00000395907.1_Silent_p.G198G|AURKA_ENST00000312783.6_Silent_p.G198G|AURKA_ENST00000371356.2_Silent_p.G198G|AURKA_ENST00000395911.1_Silent_p.G198G|AURKA_ENST00000395915.3_Silent_p.G198G|AURKA_ENST00000395914.1_Silent_p.G198G NM_198433.1 NP_940835.1 O14965 AURKA_HUMAN aurora kinase A 198 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome ATP binding|protein kinase binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2) 22 Colorectal(105;0.202) CATGGAAATAACCATACAGTC 0.363000 19 22 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18377106 18377106 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:18377106G>A ENST00000392413.3 - 3 1459 c.1244C>T c.(1243-1245)cCa>cTa p.P415L KIAA1683_ENST00000600328.2_Missense_Mutation_p.P415L|KIAA1683_ENST00000600359.2_Missense_Mutation_p.P369L NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 415 Thr-rich. mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TGTCTGCCGTGGGGTGCCAGT 0.602000 28 38 0 0 1 0 0 RP11-298I3.5 0 broad.mit.edu 37 14 23416839 23416839 + Nonsense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr14:23416839G>A ENST00000555074.1 - 3 297 c.298C>T c.(298-300)Caa>Taa p.Q100* HAUS4_ENST00000397409.4_Silent_p.V144V|HAUS4_ENST00000555367.1_Silent_p.V225V|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000347758.2_Silent_p.V144V|HAUS4_ENST00000541587.1_Silent_p.V270V|HAUS4_ENST00000555986.1_Silent_p.V225V|HAUS4_ENST00000342454.8_Silent_p.V225V|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000206474.7_Silent_p.V270V|HAUS4_ENST00000490506.1_Silent_p.V146V|RP11-298I3.1_ENST00000548322.1_RNA CACCGCACTTGACTTCCAGGT 0.517000 28 25 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40585785 40585785 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr15:40585785C>T ENST00000260402.3 - 20 2451 c.2202G>A c.(2200-2202)aaG>aaA p.K734K PLCB2_ENST00000557821.1_Silent_p.K730K|PLCB2_ENST00000456256.2_Silent_p.K734K NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 734 C2. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) AGGGCTCCTCCTTCCAGACAG 0.527000 40 54 0 0 1 0 0 LENG1 79165 broad.mit.edu 37 19 54660640 54660640 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:54660640G>A ENST00000222224.3 - 3 622 c.436C>T c.(436-438)Cca>Tca p.P146S NM_024316.1 NP_077292.1 Q96BZ8 LENG1_HUMAN leukocyte receptor cluster (LRC) member 1 146 breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1) 8 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TTCTCATCTGGGGCTGGGCCG 0.647000 39 49 0 0 1 0 0 FLRT3 23767 broad.mit.edu 37 20 14307062 14307062 + Missense_Mutation SNP A A G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:14307062A>G ENST00000378053.3 - 2 1347 c.1091T>C c.(1090-1092)aTt>aCt p.I364T MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.I364T|MACROD2_ENST00000217246.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 364 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) GGTTATCTGAATGGTGCTTAC 0.488000 34 60 0 0 1 0 0 TYW1 55253 broad.mit.edu 37 7 66489964 66489964 + Missense_Mutation SNP T T G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:66489964T>G ENST00000359626.5 + 7 1103 c.939T>G c.(937-939)gaT>gaG p.D313E NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 313 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) CCATTGTTGATGTTGAAGATT 0.423000 23 26 0 0 1 0 0 RND1 27289 broad.mit.edu 37 12 49251968 49251968 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:49251968G>A ENST00000309739.5 - 5 640 c.510C>T c.(508-510)ttC>ttT p.F170F NM_014470.3 NP_055285.1 Q92730 RND1_HUMAN Rho family GTPase 1 170 actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction adherens junction|cytoskeleton|cytosol GTP binding|GTPase activity|receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1) 10 TTTCTGAGGTGAAAGCTGAGC 0.552000 19 38 0 0 1 0 0 CHAC2 494143 broad.mit.edu 37 2 54001462 54001462 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:54001462C>T ENST00000295304.4 + 3 450 c.355C>T c.(355-357)Ctt>Ttt p.L119F GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000263634.3_Intron|ASB3_ENST00000498475.2_Intron NM_001008708.2 NP_001008708.1 Q8WUX2 CHAC2_HUMAN ChaC, cation transport regulator homolog 2 (E. coli) 119 endometrium(1)|large_intestine(2)|lung(4)|prostate(1) 8 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TCCTGATTATCTTGGTCCTGC 0.358000 22 41 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112686862 112686862 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:112686862G>A ENST00000295408.4 + 2 484 c.227G>A c.(226-228)gGa>gAa p.G76E MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Missense_Mutation_p.G76E Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 76 cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 CCACATACAGGAAACGTAGCC 0.507000 14 24 0 0 1 0 0 CCDC54 84692 broad.mit.edu 37 3 107097078 107097078 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:107097078C>T ENST00000261058.1 + 1 891 c.644C>T c.(643-645)cCc>cTc p.P215L NM_032600.2 NP_115989.1 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 215 p.P215H(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 ACAATTTCTCCCCAAATGAAA 0.393000 18 20 0 0 1 0 0 OR10A4 283297 broad.mit.edu 37 11 6898580 6898580 + Silent SNP G G C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:6898580G>C ENST00000379829.2 + 1 725 c.702G>C c.(700-702)ggG>ggC p.G234G NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CAGCTGAGGGGAAACATCAGG 0.517000 24 14 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103978 53103978 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:53103978G>A ENST00000408890.4 + 1 630 c.614G>A c.(613-615)gGt>gAt p.G205D NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 205 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GACAGCAAGGGTGGCAGGCGG 0.667000 30 45 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9083238 9083238 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:9083238G>A ENST00000397910.4 - 1 8780 c.8577C>T c.(8575-8577)ctC>ctT p.L2859L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2859 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGGTGTTAGGAGGCCTGACT 0.527000 7 4 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135429496 135429496 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chrX:135429496G>A ENST00000394143.1 + 6 3922 c.3631G>A c.(3631-3633)Gat>Aat p.D1211N GPR112_ENST00000412101.1_Missense_Mutation_p.D1006N|GPR112_ENST00000394141.1_Missense_Mutation_p.D1006N|GPR112_ENST00000370652.1_Missense_Mutation_p.D1211N|GPR112_ENST00000287534.4_Missense_Mutation_p.D1148N NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1211 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTCTGTTGTTGATGAGACCAC 0.473000 67 16 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 4 61 0 0 1 0 0 D2HGDH 728294 broad.mit.edu 37 2 242707241 242707241 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:242707241G>A ENST00000321264.4 + 10 1632 c.1423G>A c.(1423-1425)Gag>Aag p.E475K D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.E341K NM_152783.3 NP_689996.4 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase 475 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 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;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) CGTCAGCGCGGAGCACGGAGT 0.692000 13 15 0 0 1 0 0 NME7 29922 broad.mit.edu 37 1 169102023 169102023 + Nonstop_Mutation SNP C C A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:169102023C>A ENST00000367811.3 - 12 1387 c.1131G>T c.(1129-1131)taG>taT p.*377Y NME7_ENST00000472647.1_Nonstop_Mutation_p.*341Y NM_013330.3 NP_037462.1 Q9Y5B8 NDK7_HUMAN NME/NM23 family member 7 0 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process centrosome ATP binding|metal ion binding|nucleoside diphosphate kinase activity central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1) 16 all_hematologic(923;0.208) TTCCACACCACTAATTATCCA 0.363000 12 25 1.52009e-12 1.57265e-12 1 1 0 HMCN1 83872 broad.mit.edu 37 1 185976290 185976290 + Silent SNP A A G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:185976290A>G ENST00000271588.4 + 30 4735 c.4506A>G c.(4504-4506)gaA>gaG p.E1502E HMCN1_ENST00000367492.2_Silent_p.E1502E NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1502 Ig-like C2-type 12. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CTAATGTTGAACTTCTAGACA 0.368000 21 49 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2057191 2057191 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:2057191C>T ENST00000262113.4 + 25 3190 c.3049C>T c.(3049-3051)Cct>Tct p.P1017S MYOM2_ENST00000523438.1_Missense_Mutation_p.P442S NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 1017 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TGTAGCAATTCCTCTGAAATC 0.408000 11 15 0 0 1 0 0 TREM1 54210 broad.mit.edu 37 6 41250182 41250182 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:41250182G>A ENST00000591620.1 - 2 383 c.357C>T c.(355-357)ccC>ccT p.P119P TREM1_ENST00000589614.1_Silent_p.P119P|TREM1_ENST00000244709.4_Silent_p.P119P|TREM1_ENST00000334475.6_Silent_p.P119P NM_001242589.1 NP_001229518.1 Q9NP99 TREM1_HUMAN triggering receptor expressed on myeloid cells 1 119 Ig-like V-type. blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) GAGGCTCCTTGGGAGGCTGGT 0.542000 12 28 0 0 1 0 0 ZNF470 388566 broad.mit.edu 37 19 57089032 57089032 + Missense_Mutation SNP T T C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:57089032T>C ENST00000330619.8 + 6 1921 c.1235T>C c.(1234-1236)cTt>cCt p.L412P ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.L412P NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 412 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) CACATAGGACTTATTCAGCAT 0.418000 9 29 0 0 1 0 0 CD34 947 broad.mit.edu 37 1 208062533 208062533 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:208062533C>T ENST00000356522.4 - 6 1101 c.780G>A c.(778-780)atG>atA p.M260I CD34_ENST00000367036.3_Missense_Mutation_p.M102I|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Missense_Mutation_p.M125I|CD34_ENST00000310833.7_Missense_Mutation_p.M260I NM_001773.2 NP_001764.1 P28906 CD34_HUMAN CD34 molecule 260 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 GGTGCTTTTTCATAAGTTGGA 0.483000 36 63 0 0 1 0 0 HPD 3242 broad.mit.edu 37 12 122292672 122292672 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:122292672G>A ENST00000543163.1 - 8 679 c.234C>T c.(232-234)atC>atT p.I78I HPD_ENST00000289004.4_Silent_p.I117I NM_001171993.1 NP_001165464.1 P32754 HPPD_HUMAN 4-hydroxyphenylpyruvate dioxygenase 117 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1) 18 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) GCTCCCGCATGATTTTGGCGC 0.597000 28 60 0 0 1 0 0 NTRK2 4915 broad.mit.edu 37 9 87338524 87338524 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:87338524C>T ENST00000304053.6 + 7 1103 c.620C>T c.(619-621)aCt>aTt p.T207I NTRK2_ENST00000359847.3_Missense_Mutation_p.T207I|NTRK2_ENST00000376208.1_Missense_Mutation_p.T207I|NTRK2_ENST00000277120.3_Missense_Mutation_p.T207I|NTRK2_ENST00000323115.4_Missense_Mutation_p.T207I|NTRK2_ENST00000395866.2_Missense_Mutation_p.T51I|NTRK2_ENST00000376213.1_Missense_Mutation_p.T207I|NTRK2_ENST00000376214.1_Missense_Mutation_p.T207I|NTRK2_ENST00000395882.1_Missense_Mutation_p.T207I NM_001018065.2 NP_001018075.1 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 207 Ig-like C2-type 1. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 CCTAACCTCACTGTGGAGGAA 0.408000 TSP Lung(25;0.17) 29 11 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216108048 216108048 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:216108048G>A ENST00000366943.2 - 38 7596 c.7210C>T c.(7210-7212)Cct>Tct p.P2404S USH2A_ENST00000307340.3_Missense_Mutation_p.P2404S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2404 Fibronectin type-III 10. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTGGTAAAAGGAACCAGCCCA 0.398000 HNSCC(13;0.011) 43 56 0 0 1 0 0 SLC2A9 56606 broad.mit.edu 37 4 9892309 9892309 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr4:9892309C>T ENST00000506583.1 - 11 1270 c.1053G>A c.(1051-1053)cgG>cgA p.R351R SLC2A9_ENST00000309065.3_Silent_p.R351R|SLC2A9_ENST00000264784.3_Silent_p.R380R Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 380 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 GGAGGGGTCTCCGTCCCAGGT 0.522000 9 4 0 0 1 0 0 AGFG2 3268 broad.mit.edu 37 7 100153353 100153353 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:100153353C>T ENST00000300176.4 + 6 994 c.872C>T c.(871-873)cCt>cTt p.P291L AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 291 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CAGCCAACTCCTGCAGGTAAA 0.507000 30 44 0 0 1 0 0 MIR520G 574484 broad.mit.edu 37 19 54225471 54225471 + RNA SNP A A T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:54225471A>T ENST00000385064.1 + 0 52 NR_030206.1 TGTCTGAGAAAAAACAAAGTG 0.413000 20 37 0 0 1 0 0 CLU 1191 broad.mit.edu 37 8 27461904 27461904 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:27461904C>T ENST00000316403.10 - 6 1243 c.838G>A c.(838-840)Gat>Aat p.D280N CLU_ENST00000405140.3_Missense_Mutation_p.D280N|CLU_ENST00000546343.1_Missense_Mutation_p.D291N|CLU_ENST00000560366.1_Missense_Mutation_p.D332N|CLU_ENST00000523500.1_Missense_Mutation_p.D280N P10909 CLUS_HUMAN clusterin 280 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) GTCCGGTCATCGTCGCCTTCT 0.517000 11 20 0 0 1 0 0 ARF5 381 broad.mit.edu 37 7 127228564 127228564 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:127228564C>T ENST00000000233.5 + 1 166 c.12C>T c.(10-12)acC>acT p.T4T GCC1_ENST00000497650.1_Intron|ARF5_ENST00000467281.1_3'UTR NM_001662.3 NP_001653.1 P84085 ARF5_HUMAN ADP-ribosylation factor 5 4 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding cervix(2)|kidney(1)|lung(10)|ovary(1) 14 TGGGCCTCACCGTGTCCGCGC 0.756000 6 8 0 0 1 0 0 SLC26A8 116369 broad.mit.edu 37 6 35965560 35965560 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:35965560G>A ENST00000490799.1 - 5 935 c.582C>T c.(580-582)tcC>tcT p.S194S SLC26A8_ENST00000394602.2_Silent_p.S194S|SLC26A8_ENST00000355574.2_Silent_p.S194S NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 194 cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 CCACACTCAAGGATTTATTAT 0.438000 14 33 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48604128 48604128 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr4:48604128G>A ENST00000537810.1 - 13 1548 c.944C>T c.(943-945)cCa>cTa p.P315L FRYL_ENST00000503238.1_Missense_Mutation_p.P315L|FRYL_ENST00000358350.4_Missense_Mutation_p.P315L|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Missense_Mutation_p.P21L|FRYL_ENST00000507711.1_Missense_Mutation_p.P315L O94915 FRYL_HUMAN FRY-like 315 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 GGTAATTAGTGGATATAAAGC 0.303000 15 19 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140419753 140419753 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:140419753G>A ENST00000286349.3 + 5 2300 c.2109G>A c.(2107-2109)ggG>ggA p.G703G NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 703 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 ATGGACATGGGAAGAACCGAG 0.532000 15 21 0 0 1 0 0 AIFM1 9131 broad.mit.edu 37 X 129290468 129290468 + Silent SNP A A G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chrX:129290468A>G ENST00000287295.3 - 2 446 c.216T>C c.(214-216)atT>atC p.I72I AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000535724.1_Intron|AIFM1_ENST00000319908.3_Intron NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 72 activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 ATAAGCCCACAATAAGGACTA 0.443000 60 13 0 0 1 0 0 GSDMC 56169 broad.mit.edu 37 8 130778026 130778026 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:130778026G>A ENST00000276708.4 - 4 1299 c.418C>T c.(418-420)Cca>Tca p.P140S NM_031415.2 NP_113603.1 Q9BYG8 GSDMC_HUMAN gasdermin C 140 mitochondrion autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 GATGGCTCTGGATCCAACAGT 0.507000 15 20 0 0 1 0 0 SPRR4 163778 broad.mit.edu 37 1 152944394 152944394 + Missense_Mutation SNP C C G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:152944394C>G ENST00000328051.2 + 2 77 c.28C>G c.(28-30)Cag>Gag p.Q10E NM_173080.1 NP_775103.1 Q96PI1 SPRR4_HUMAN small proline-rich protein 4 10 Gln-rich. keratinization|peptide cross-linking cell cortex lung(1)|prostate(1) 2 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) gcagcggcagcagcagcagTG 0.552000 27 47 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57335829 57335829 + Silent SNP G G A rs148324200 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:57335829G>A ENST00000326441.9 - 4 558 c.195C>T c.(193-195)atC>atT p.I65I PEG3_ENST00000593695.1_Intron|PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.I65I|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000391708.3_5'UTR NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 65 SCAN box. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TTCGGAGTTTGATCAGGGTCT 0.502000 28 42 0 0 1 0 0 TBC1D22A 25771 broad.mit.edu 37 22 47189461 47189461 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr22:47189461C>T ENST00000337137.4 + 3 349 c.183C>T c.(181-183)ttC>ttT p.F61F TBC1D22A_ENST00000406733.1_Silent_p.F14F|TBC1D22A_ENST00000355704.3_Silent_p.F42F|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000380995.1_Silent_p.F14F|TBC1D22A_ENST00000407381.3_Silent_p.F61F NM_014346.2 NP_055161.1 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 61 intracellular protein homodimerization activity|Rab GTPase activator activity breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) TCAGCACCTTCCAGGAGTTTG 0.592000 15 31 0 0 1 0 0 LENG1 79165 broad.mit.edu 37 19 54660641 54660641 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:54660641G>A ENST00000222224.3 - 3 621 c.435C>T c.(433-435)gcC>gcT p.A145A NM_024316.1 NP_077292.1 Q96BZ8 LENG1_HUMAN leukocyte receptor cluster (LRC) member 1 145 breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1) 8 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TCTCATCTGGGGCTGGGCCGG 0.647000 39 48 0 0 1 0 0 RUVBL2 10856 broad.mit.edu 37 19 49507628 49507628 + Missense_Mutation SNP T T A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:49507628T>A ENST00000413176.2 + 4 1231 c.83T>A c.(82-84)gTc>gAc p.V28D RUVBL2_ENST00000595090.1_Missense_Mutation_p.V73D|RUVBL2_ENST00000601968.1_Missense_Mutation_p.V28D Q9Y230 RUVB2_HUMAN RuvB-like AAA ATPase 2 73 cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding large_intestine(1)|upper_aerodigestive_tract(1) 2 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) GGTCGGGCAGTCCTTATTGCT 0.632000 29 41 0 0 1 0 0 MYLK3 91807 broad.mit.edu 37 16 46771693 46771693 + Nonsense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:46771693G>A ENST00000394809.4 - 3 1046 c.931C>T c.(931-933)Cag>Tag p.Q311* MYLK3_ENST00000536476.1_Intron NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 311 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CCTGGGCACTGAGGGCCAGGC 0.657000 31 42 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113234603 113234603 + Splice_Site SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:113234603C>T ENST00000401783.2 - 15 2936 c.2599_splice c.e15-1 p.G867_splice SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Splice_Site_p.G867_splice|SVEP1_ENST00000374469.1_Splice_Site_p.G844_splice NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 867 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GCCACCTGGTCCTGGATAGTC 0.483000 21 22 0 0 1 0 0 DHX36 170506 broad.mit.edu 37 3 153994658 153994658 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:153994658G>A ENST00000496811.1 - 24 2799 c.2719C>T c.(2719-2721)Cca>Tca p.P907S DHX36_ENST00000329463.5_Missense_Mutation_p.P893S|DHX36_ENST00000308361.6_Missense_Mutation_p.P878S|DHX36_ENST00000544526.1_Missense_Mutation_p.P893S NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 907 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AGACAGTATGGGGAAACCTCT 0.348000 7 21 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101020717 101020717 + Missense_Mutation SNP C C T rs79298856 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:101020717C>T ENST00000360863.6 - 15 2441 c.2247G>A c.(2245-2247)atG>atA p.M749I RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523287.1_Missense_Mutation_p.M568I|RGS22_ENST00000523437.1_Missense_Mutation_p.M737I NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 749 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) GCTGTATTTTCATATAAATTT 0.403000 12 27 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48250034 48250034 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:48250034G>A ENST00000394747.1 - 6 1291 c.942C>T c.(940-942)ttC>ttT p.F314F ABCC11_ENST00000356608.2_Silent_p.F314F|ABCC11_ENST00000394748.1_Silent_p.F314F|ABCC11_ENST00000353782.5_Silent_p.F314F|ABCC11_ENST00000537808.1_Silent_p.F314F NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 314 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CCGCCAGTGGGAAAACCAGGA 0.473000 31 65 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240374523 240374523 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:240374523G>A ENST00000319653.9 + 6 4283 c.4053G>A c.(4051-4053)acG>acA p.T1351T NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1351 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TCTCAAAGACGAAGGCTAAAC 0.338000 29 48 0 0 1 0 0 SHCBP1 79801 broad.mit.edu 37 16 46638279 46638279 + Missense_Mutation SNP A A T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:46638279A>T ENST00000303383.3 - 6 1050 c.784T>A c.(784-786)Tta>Ata p.L262I NM_024745.4 NP_079021.3 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 262 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) CTCAGATTTAAAAATTTCCTG 0.383000 40 47 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21901480 21901480 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:21901480G>A ENST00000328843.6 + 70 11264 c.11233G>A c.(11233-11235)Gtg>Atg p.V3745M DNAH11_ENST00000409508.3_Missense_Mutation_p.V3738M Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3745 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GGCTTTTAACGTGCTGTTCCA 0.483000 Kartagener syndrome 17 17 0 0 1 0 0 CXCR1 3577 broad.mit.edu 37 2 219028978 219028978 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:219028978G>A ENST00000295683.2 - 2 1077 c.957C>T c.(955-957)atC>atT p.I319I NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 319 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 GCATAGCCAGGATCTTGAGGA 0.502000 25 37 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27222846 27222846 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:27222846C>T ENST00000230582.3 + 11 1427 c.1412C>T c.(1411-1413)tCc>tTc p.S471F PRSS16_ENST00000421826.2_Missense_Mutation_p.S214F|PRSS16_ENST00000377456.2_3'UTR NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) 471 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CGCACTGGCTCCCACTGCTTG 0.532000 48 123 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 167020590 167020590 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr4:167020590G>A ENST00000061240.2 + 20 3465 c.2818G>A c.(2818-2820)Gaa>Aaa p.E940K TLL1_ENST00000507499.1_Missense_Mutation_p.E963K NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 940 CUB 5. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TGAAGTGGAGGAAGAAGCAGA 0.468000 41 31 0 0 1 0 0 LCN2 3934 broad.mit.edu 37 9 130915390 130915390 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:130915390G>A ENST00000373017.1 + 7 826 c.589G>A c.(589-591)Gac>Aac p.D197N LCN2_ENST00000277480.2_Missense_Mutation_p.D197N|LCN2_ENST00000372998.1_Missense_Mutation_p.D199N|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000373013.2_Missense_Mutation_p.D199N P80188 NGAL_HUMAN lipocalin 2 197 apoptosis|innate immune response|regulation of apoptosis|siderophore transport iron ion binding|transporter activity central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 8 CCAGTGTATCGACGGCTGAGT 0.607000 48 78 0 0 1 0 0 SH3RF3 344558 broad.mit.edu 37 2 109964334 109964334 + Nonsense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:109964334C>T ENST00000309415.6 + 2 778 c.778C>T c.(778-780)Cag>Tag p.Q260* NM_001099289.1 NP_001092759.1 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 260 SH3 2. zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2) 18 CGCCCCGCCCCAGGGAAAAGC 0.597000 5 4 0 0 1 0 0 CYYR1 116159 broad.mit.edu 37 21 27840950 27840950 + Splice_Site SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr21:27840950C>T ENST00000299340.4 - 4 678 c.334_splice c.e4-1 p.G112_splice AP001596.6_ENST00000444306.1_RNA|AP001596.6_ENST00000429340.1_RNA|AP001596.6_ENST00000421771.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000357401.3_RNA|AP001597.1_ENST00000414486.1_RNA NM_052954.2 NP_443186.1 Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 112 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 GGGTGGTGGTCCTGCTGAAAA 0.522000 19 22 0 0 1 0 0 GDPD5 81544 broad.mit.edu 37 11 75154313 75154313 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:75154313G>A ENST00000526177.1 - 7 2280 c.402C>T c.(400-402)ttC>ttT p.F134F GDPD5_ENST00000529721.1_Silent_p.F272F|GDPD5_ENST00000533805.1_Silent_p.F27F|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000336898.3_Silent_p.F272F|GDPD5_ENST00000533784.1_Silent_p.F153F|GDPD5_ENST00000376282.3_Silent_p.F153F Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain containing 5 272 glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 CATGCATGAGGAAGGGCACGC 0.657000 9 10 0 0 1 0 0 RTN4IP1 84816 broad.mit.edu 37 6 107040048 107040048 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:107040048G>A ENST00000369063.3 - 6 1262 c.797C>T c.(796-798)tCc>tTc p.S266F RTN4IP1_ENST00000539449.1_Intron NM_032730.4 NP_116119.2 Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 266 mitochondrion oxidoreductase activity|zinc ion binding breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1) 13 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) CGGTTTTAAGGATTTCAACTG 0.428000 23 48 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47847973 47847973 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:47847973C>T ENST00000289672.2 - 52 7749 c.7699G>A c.(7699-7701)Gga>Aga p.G2567R C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2567 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AGGCTCACTCCAACCACGGAG 0.517000 9 20 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174784 63174784 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr14:63174784C>T ENST00000322893.7 - 11 2677 c.2409G>A c.(2407-2409)atG>atA p.M803I KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 803 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) TTCCATTCTTCATTCTTATTG 0.453000 26 47 0 0 1 0 0 KIAA0430 9665 broad.mit.edu 37 16 15711345 15711345 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:15711345G>A ENST00000396368.3 - 14 2974 c.2768C>T c.(2767-2769)aCg>aTg p.T923M KIAA0430_ENST00000602337.1_Missense_Mutation_p.T920M|KIAA0430_ENST00000551742.1_Missense_Mutation_p.T923M|KIAA0430_ENST00000540441.2_Missense_Mutation_p.T758M|KIAA0430_ENST00000344181.3_Missense_Mutation_p.T565M|KIAA0430_ENST00000548025.1_Missense_Mutation_p.T920M NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 922 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 GATTGCGACCGTGTCTGTTAA 0.493000 13 33 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31852256 31852256 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:31852256G>A ENST00000395728.3 - 20 2854 c.2855C>T c.(2854-2856)tCc>tTc p.S952F EHMT2_ENST00000375528.4_Missense_Mutation_p.S918F|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.S861F|EHMT2_ENST00000375537.4_Missense_Mutation_p.S895F Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 895 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 CCACACGTCGGAGCGCTCGGG 0.612000 47 145 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27509122 27509122 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:27509122G>A ENST00000356183.4 - 14 2201 c.2186C>T c.(2185-2187)cCa>cTa p.P729L GTF3C1_ENST00000561623.1_Missense_Mutation_p.P729L NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 729 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 TTGGGGCACTGGAGGCTGGGA 0.478000 18 22 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16263525 16263525 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:16263525G>A ENST00000205557.7 - 22 3002 c.2973C>T c.(2971-2973)ttC>ttT p.F991F NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 991 ABC transmembrane type-1 2. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CGAGGAGCCCGAAGATCCCGC 0.667000 6 5 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72984673 72984673 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:72984673G>A ENST00000268489.5 - 3 3583 c.2911C>T c.(2911-2913)Ctg>Ttg p.L971L ZFHX3_ENST00000397992.5_Silent_p.L57L NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 971 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TCCTCCGACAGGCTGCGCTCC 0.602000 8 18 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40901474 40901474 + Missense_Mutation SNP A A C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:40901474A>C ENST00000324001.7 - 7 3055 c.2785T>G c.(2785-2787)Tcc>Gcc p.S929A PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 929 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGAACTTGGAAGAGGGCTTG 0.547000 37 68 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110839568 110839568 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr13:110839568G>A ENST00000375820.4 - 25 1766 c.1645C>T c.(1645-1647)Cca>Tca p.P549S NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 549 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GGCTGTCCTGGAAAGCCTGGG 0.592000 34 41 0 0 1 0 0 DYNAP 284254 broad.mit.edu 37 18 52265165 52265165 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr18:52265165C>T ENST00000321600.1 + 3 468 c.422C>T c.(421-423)tCg>tTg p.S141L DYNAP_ENST00000585973.1_Missense_Mutation_p.S89L NM_173629.1 NP_775900.1 dynactin associated protein AACAAAGGATCGGCCAATTCC 0.448000 15 32 0 0 1 0 0 ANKRD30BL 554226 broad.mit.edu 37 2 132905786 132905786 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:132905786C>T ENST00000409867.1 - 6 944 c.695G>A c.(694-696)gGa>gAa p.G232E ANKRD30BL_ENST00000470729.1_5'UTR ankyrin repeat domain 30B-like endometrium(1)|kidney(3) 4 ATCAGGTGTTCCTTCAGATGT 0.443000 4 4 0 0 1 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94342620 94342620 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:94342620C>T ENST00000436063.2 - 2 928 c.871G>A c.(871-873)Gaa>Aaa p.E291K DNTTIP2_ENST00000460191.1_5'UTR NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) TGTTTTGTTTCTTTAAGAGAT 0.338000 13 5 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 72889537 72889537 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:72889537G>A ENST00000264839.7 + 5 731 c.731G>A c.(730-732)gGg>gAg p.G244E RIMS1_ENST00000348717.5_Missense_Mutation_p.G244E|RIMS1_ENST00000522291.1_Missense_Mutation_p.G244E|RIMS1_ENST00000491071.2_Missense_Mutation_p.G244E|RIMS1_ENST00000521978.1_Missense_Mutation_p.G244E|RIMS1_ENST00000520567.1_Missense_Mutation_p.G244E|RIMS1_ENST00000518273.1_Missense_Mutation_p.G244E|RIMS1_ENST00000517960.1_Missense_Mutation_p.G244E Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 244 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) AGGAGCAAAGGGGCTGAGCCC 0.587000 4 13 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41272544 41272544 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr15:41272544G>A ENST00000361937.3 - 36 4972 c.4548C>T c.(4546-4548)tcC>tcT p.S1516S INO80_ENST00000401393.3_Silent_p.S1516S Q9ULG1 INO80_HUMAN INO80 complex subunit 1516 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 TGCTCAAAGGGGAACTCAAAG 0.557000 15 27 0 0 1 0 0 SLC36A2 153201 broad.mit.edu 37 5 150718678 150718678 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr5:150718678G>A ENST00000335244.4 - 5 597 c.468C>T c.(466-468)atC>atT p.I156I SLC36A2_ENST00000521967.1_Silent_p.I156I NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 156 I -> N (in Ref. 1; AAO11788). cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAAGTTGGGTGATAATAAGGA 0.398000 36 16 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154705564 154705564 + Missense_Mutation SNP G G T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:154705564G>T ENST00000271915.3 - 4 1820 c.1505C>A c.(1504-1506)tCc>tAc p.S502Y KCNN3_ENST00000361147.4_Missense_Mutation_p.S197Y|KCNN3_ENST00000358505.2_Missense_Mutation_p.S189Y NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 507 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GAATGTGATGGAGATGAGCCA 0.517000 12 30 4.36969e-10 4.49685e-10 1 1 0 ATP1A3 478 broad.mit.edu 37 19 42490372 42490372 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:42490372C>T ENST00000545399.1 - 5 559 c.406G>A c.(406-408)Ggc>Agc p.G136S ATP1A3_ENST00000302102.5_Missense_Mutation_p.G123S|ATP1A3_ENST00000602133.1_Missense_Mutation_p.G93S|ATP1A3_ENST00000543770.1_Missense_Mutation_p.G134S NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 123 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 AGCACGATGCCCAGGTACAGC 0.597000 12 29 0 0 1 0 0 SLC26A11 284129 broad.mit.edu 37 17 78195378 78195378 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:78195378G>A ENST00000361193.3 + 3 299 c.19G>A c.(19-21)Gcg>Acg p.A7T SLC26A11_ENST00000546047.2_Missense_Mutation_p.A7T|SLC26A11_ENST00000411502.3_Missense_Mutation_p.A7T|SLC26A11_ENST00000572725.1_Missense_Mutation_p.A7T|SLC26A11_ENST00000571602.1_3'UTR NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 7 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TTCGGTGACGGCGCTGGGTCA 0.682000 13 8 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201186515 201186515 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:201186515C>T ENST00000335211.4 + 17 9826 c.9696C>T c.(9694-9696)atC>atT p.I3232I IGFN1_ENST00000295591.8_Silent_p.I392I NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCGCCCACATCCTGGGCTACC 0.657000 27 40 0 0 1 0 0 MS4A15 219995 broad.mit.edu 37 11 60531280 60531280 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:60531280C>T ENST00000405633.3 + 2 153 c.74C>T c.(73-75)cCt>cTt p.P25L MS4A15_ENST00000528170.1_Missense_Mutation_p.P25L|MS4A15_ENST00000337911.4_Intron NM_001098835.1 NP_001092305.1 Q8N5U1 M4A15_HUMAN membrane-spanning 4-domains, subfamily A, member 15 25 integral to membrane receptor activity breast(1)|large_intestine(2)|lung(3) 6 CTCTGCCCACCTCCGGCCATT 0.597000 50 63 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70964892 70964892 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:70964892G>A ENST00000334414.6 - 13 3328 c.3284C>T c.(3283-3285)tCc>tTc p.S1095F PTPRB_ENST00000550857.1_Missense_Mutation_p.S787F|PTPRB_ENST00000261266.5_Missense_Mutation_p.S877F|PTPRB_ENST00000451516.2_Missense_Mutation_p.S787F|PTPRB_ENST00000550358.1_Missense_Mutation_p.S1007F|PTPRB_ENST00000551525.1_Missense_Mutation_p.S1094F|PTPRB_ENST00000538708.1_Missense_Mutation_p.S877F NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 877 Fibronectin type-III 13. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.S1095F(1)|p.S877F(1) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGGTGTTAGGGAAGTAAATCG 0.448000 13 25 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56369655 56369655 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:56369655C>T ENST00000301295.6 + 3 1318 c.896C>T c.(895-897)cCc>cTc p.P299L NLRP4_ENST00000346986.5_Missense_Mutation_p.P299L|NLRP4_ENST00000587891.1_Missense_Mutation_p.P224L NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 299 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ATCTACCAGCCCCGGGGATTC 0.507000 19 32 0 0 1 0 0 CWC25 54883 broad.mit.edu 37 17 36965995 36965995 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:36965995G>A ENST00000225428.4 - 6 947 c.650C>T c.(649-651)tCc>tTc p.S217F CWC25_ENST00000536127.1_Missense_Mutation_p.S154F NM_017748.3 NP_060218.1 Q9NXE8 CWC25_HUMAN CWC25 spliceosome-associated protein homolog (S. cerevisiae) 217 central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 14 AACAGGGGAGGAATTTGCCAT 0.408000 5 16 0 0 1 0 0 ANKRD44 91526 broad.mit.edu 37 2 197866501 197866501 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:197866501G>A ENST00000328737.2 - 22 2412 c.2336C>T c.(2335-2337)cCc>cTc p.P779L ANKRD44_ENST00000450567.1_Missense_Mutation_p.P779L|ANKRD44_ENST00000337207.5_Missense_Mutation_p.P779L|ANKRD44_ENST00000282272.8_Missense_Mutation_p.P796L Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 804 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) TGGAGTAAAGGGATTACCGAT 0.338000 16 32 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28991184 28991184 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr18:28991184C>T ENST00000359747.4 + 14 2214 c.2185C>T c.(2185-2187)Ccc>Tcc p.P729S RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Intron|RP11-534N16.1_ENST00000581856.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 710 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CCAACATCCTCCCTTTTCAGA 0.607000 15 31 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113146050 113146050 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:113146050G>A ENST00000316851.7 + 18 2488 c.2488G>A c.(2488-2490)Gaa>Aaa p.E830K NCAM1_ENST00000397957.4_3'UTR NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 840 axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AGCGCCAGCCGAAGTCAAGAC 0.522000 7 12 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17111250 17111250 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:17111250C>T ENST00000443236.1 - 10 1013 c.982G>A c.(982-984)Gga>Aga p.G328R CPAMD8_ENST00000388925.4_Missense_Mutation_p.G281R NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 281 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 ACAGGGCGTCCCACCTCGTGG 0.498000 11 15 0 0 1 0 0 SH3RF3 344558 broad.mit.edu 37 2 109964176 109964176 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:109964176G>A ENST00000309415.6 + 2 620 c.620G>A c.(619-621)gGg>gAg p.G207E NM_001099289.1 NP_001092759.1 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 207 SH3 1. zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2) 18 AGCTACGAGGGGAAGGAACCT 0.597000 8 11 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81112815 81112815 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:81112815C>T ENST00000228644.3 + 3 905 c.753C>T c.(751-753)atC>atT p.I251I NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 251 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 CCAGGCTTATCTATCATGTGC 0.483000 14 23 0 0 1 0 0 FAM83C 128876 broad.mit.edu 37 20 33876366 33876366 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:33876366C>T ENST00000374408.3 - 3 800 c.704G>A c.(703-705)tGt>tAt p.C235Y NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 235 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) TGTGTCCCCACACGTGCTCCG 0.602000 8 23 0 0 1 0 0 SCEL 8796 broad.mit.edu 37 13 78177213 78177213 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr13:78177213G>A ENST00000535157.1 + 17 1144 c.974G>A c.(973-975)aGt>aAt p.S325N SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000469982.1_Intron|SCEL-AS1_ENST00000457528.2_RNA|SCEL_ENST00000377246.3_Missense_Mutation_p.S327N|SCEL_ENST00000349847.3_Missense_Mutation_p.S347N NM_001160706.1 NP_001154178.1 O95171 SCEL_HUMAN sciellin 347 16 X approximate tandem repeats. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) TTTTAAAGAAGTGAAGACCTT 0.289000 12 10 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117175335 117175335 + Missense_Mutation SNP C C T rs121908803 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:117175335C>T ENST00000003084.6 + 6 745 c.613C>T c.(613-615)Cct>Tct p.P205S CFTR_ENST00000454343.1_Missense_Mutation_p.P205S NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 205 ABC transmembrane type-1 1. P -> S (in CF). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding p.P205S(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GTGGATCGCTCCTTTGCAAGT 0.473000 Cystic Fibrosis 48 72 0 0 1 0 0 ZNF275 10838 broad.mit.edu 37 X 152613170 152613170 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chrX:152613170C>T ENST00000421401.3 + 4 1204 c.1027C>T c.(1027-1029)Cac>Tac p.H343Y ZNF275_ENST00000370251.2_Intron|ZNF275_ENST00000370249.2_Missense_Mutation_p.H290Y|ZNF275_ENST00000440091.1_Missense_Mutation_p.H373Y NM_001080485.3 NP_001073954.3 A6NFS0 A6NFS0_HUMAN zinc finger protein 275 259 intracellular nucleic acid binding|zinc ion binding endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGCACGCATCCACAGTGGCGA 0.682000 12 6 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139180190 139180190 + Nonsense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:139180190C>T ENST00000395297.1 - 12 1376 c.1206G>A c.(1204-1206)tgG>tgA p.W402* NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 402 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCAGGGTGTTCCAATCGCCGT 0.552000 HNSCC(54;0.14) 35 58 0 0 1 0 0 ZNF677 342926 broad.mit.edu 37 19 53741069 53741069 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:53741069G>A ENST00000333952.4 - 5 1076 c.911C>T c.(910-912)tCg>tTg p.S304L ZNF677_ENST00000598513.1_Missense_Mutation_p.S304L Q86XU0 ZN677_HUMAN zinc finger protein 677 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) AGTGAGGTTCGAACACTGGTT 0.403000 19 32 0 0 1 0 0 C19orf55 148137 broad.mit.edu 37 19 36256065 36256065 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:36256065C>T ENST00000544099.1 + 7 820 c.757C>T c.(757-759)Ccc>Tcc p.P253S C19orf55_ENST00000396908.4_Missense_Mutation_p.P253S Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 253 cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGGCCTTGGCCCCAGGGCACC 0.617000 12 24 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103703679 103703679 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr13:103703679C>T ENST00000245312.3 - 4 1285 c.689G>A c.(688-690)gGa>gAa p.G230E NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 230 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AAATATTGTTCCTATAATCCA 0.493000 22 33 0 0 1 0 0 IQCE 23288 broad.mit.edu 37 7 2613102 2613102 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:2613102G>A ENST00000402050.2 + 6 629 c.445G>A c.(445-447)Gag>Aag p.E149K IQCE_ENST00000438376.2_Missense_Mutation_p.E133K|IQCE_ENST00000404984.1_Missense_Mutation_p.E98K|IQCE_ENST00000325979.7_Missense_Mutation_p.E84K NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 149 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) TATGTATGACGAGATTATTGA 0.358000 12 20 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79952424 79952424 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:79952424C>T ENST00000360280.3 + 47 6609 c.6349C>T c.(6349-6351)Ctt>Ttt p.L2117F VPS13A_ENST00000376636.3_Missense_Mutation_p.L2078F|VPS13A_ENST00000357409.5_Missense_Mutation_p.L2117F|VPS13A_ENST00000376634.4_Missense_Mutation_p.L2117F NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 2117 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 CCGAAATCTTCTTCCTTACAA 0.328000 31 15 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112024188 112024188 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chrX:112024188G>A ENST00000371959.3 - 9 2398 c.2399C>T c.(2398-2400)tCc>tTc p.S800F AMOT_ENST00000371962.1_Missense_Mutation_p.S568F|AMOT_ENST00000371958.1_Missense_Mutation_p.S568F|AMOT_ENST00000304758.1_Missense_Mutation_p.S391F|AMOT_ENST00000524145.1_Missense_Mutation_p.S800F NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 800 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 GGATGAGTGGGAGAGCAAGCC 0.542000 59 23 0 0 1 0 0 PNLIP 5406 broad.mit.edu 37 10 118320038 118320038 + Splice_Site SNP T T G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr10:118320038T>G ENST00000369221.2 + 11 1197 c.e11+2 NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) AATTTTCAAGTGAGTAAAATA 0.393000 8 4 0 0 1 0 0 AP3D1 8943 broad.mit.edu 37 19 2118669 2118669 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:2118669G>A ENST00000355272.6 - 15 1850 c.1644C>T c.(1642-1644)gcC>gcT p.A548A AP3D1_ENST00000356926.4_Silent_p.A457A|AP3D1_ENST00000350812.6_Silent_p.A379A|AP3D1_ENST00000345016.5_Silent_p.A548A NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 548 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 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) GCTGGGTGACGGCCTGAGCGC 0.647000 18 21 0 0 1 0 0 ABCC4 10257 broad.mit.edu 37 13 95727797 95727797 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr13:95727797G>A ENST00000376887.4 - 22 2809 c.2695C>T c.(2695-2697)Cca>Tca p.P899S ABCC4_ENST00000412704.1_Missense_Mutation_p.P852S NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 899 ABC transmembrane type-1 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) GAAAACACTGGACTCCGAGCT 0.532000 25 30 0 0 1 0 0 INPP5K 51763 broad.mit.edu 37 17 1416798 1416798 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:1416798G>A ENST00000421807.2 - 3 598 c.210C>T c.(208-210)gaC>gaT p.D70D INPP5K_ENST00000542125.1_Silent_p.D70D|INPP5K_ENST00000406424.4_5'UTR|INPP5K_ENST00000320345.6_5'UTR|INPP5K_ENST00000397335.3_Intron NM_016532.3 NP_057616.2 Q9BT40 INP5K_HUMAN inositol polyphosphate-5-phosphatase K 70 Catalytic (Potential). actin cytoskeleton organization cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding endometrium(1)|large_intestine(7)|lung(3)|skin(1) 12 TGCTCCACGAGTCATTAAAGG 0.507000 40 67 0 0 1 0 0 ZNF107 51427 broad.mit.edu 37 7 64168143 64168143 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:64168143G>A ENST00000395391.1 + 4 2836 c.1461G>A c.(1459-1461)aaG>aaA p.K487K ZNF107_ENST00000344930.3_Silent_p.K487K|ZNF107_ENST00000423627.1_Silent_p.K487K Q9UII5 ZN107_HUMAN zinc finger protein 107 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) CTAAACATAAGAGAATTCATA 0.333000 4 6 0 0 1 0 0 OR5H6 79295 broad.mit.edu 37 3 97983875 97983875 + Silent SNP G G A rs146320551 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:97983875G>A ENST00000383696.2 + 1 788 c.747G>A c.(745-747)ggG>ggA p.G249G RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G249G(1) cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CTATCAAAGGGATACGAAAAG 0.388000 13 22 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168102954 168102954 + Missense_Mutation SNP A A C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:168102954A>C ENST00000409195.1 + 9 5141 c.5052A>C c.(5050-5052)aaA>aaC p.K1684N XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K1684N|XIRP2_ENST00000409273.1_Missense_Mutation_p.K1462N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1509 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAGATGAAAAAGGAGATATTA 0.353000 12 15 0 0 1 0 0 OR7G3 390883 broad.mit.edu 37 19 9237504 9237504 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:9237504C>T ENST00000305444.2 - 1 122 c.123G>A c.(121-123)ggG>ggA p.G41G NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 TGAGCAGGTTCCCCAGCATTG 0.542000 17 26 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46312213 46312213 + Missense_Mutation SNP G G A rs138677063 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr4:46312213G>A ENST00000510861.1 - 6 709 c.536C>T c.(535-537)tCa>tTa p.S179L GABRA2_ENST00000540012.1_Missense_Mutation_p.S124L|GABRA2_ENST00000514090.1_Missense_Mutation_p.S179L|GABRA2_ENST00000507069.1_Missense_Mutation_p.S179L|GABRA2_ENST00000356504.1_Missense_Mutation_p.S179L|GABRA2_ENST00000515082.1_Missense_Mutation_p.S179L|GABRA2_ENST00000381620.4_Missense_Mutation_p.S179L P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 179 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.S179L(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CAGAGGACATGAATGAGCATC 0.388000 30 21 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10382201 10382201 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:10382201G>A ENST00000397077.1 - 19 3545 c.2970C>T c.(2968-2970)atC>atT p.I990I ATP2B2_ENST00000383800.4_Silent_p.I990I|ATP2B2_ENST00000360273.2_Silent_p.I1035I|ATP2B2_ENST00000352432.4_Silent_p.I1035I|ATP2B2_ENST00000343816.4_Silent_p.I1021I Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 1035 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 TGCCCAGCACGATGGTGCAGA 0.627000 35 46 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48389950 48389950 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr10:48389950C>T ENST00000224600.4 - 1 1041 c.928G>A c.(928-930)Gag>Aag p.E310K NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 310 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) AGGGCCTGCTCGGCCGGAGTC 0.677000 6 1 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764978 77764978 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:77764978G>A ENST00000521891.2 + 10 6269 c.5821G>A c.(5821-5823)Gaa>Aaa p.E1941K ZFHX4_ENST00000050961.6_Missense_Mutation_p.E1896K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E1896K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1915K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1896 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGGTGAAGGCGAAAACACTGA 0.383000 HNSCC(33;0.089) 8 20 0 0 1 0 0 OR6M1 390261 broad.mit.edu 37 11 123676339 123676339 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:123676339G>A ENST00000309154.2 - 1 756 c.719C>T c.(718-720)tCt>tTt p.S240F NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) AGTGATGTGAGAAGCACAGGT 0.507000 7 19 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109690823 109690823 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:109690823C>T ENST00000338432.7 + 43 6024 c.5905C>T c.(5905-5907)Ctg>Ttg p.L1969L ACACB_ENST00000543201.1_Silent_p.L635L|ACACB_ENST00000377848.3_Silent_p.L1969L|ACACB_ENST00000377854.5_Silent_p.L1899L O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1969 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) AAAGCAGGTCCTGGGAAGAGA 0.512000 39 58 0 0 1 0 0 DOK6 220164 broad.mit.edu 37 18 67231792 67231792 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr18:67231792C>T ENST00000382713.5 + 2 326 c.136C>T c.(136-138)Cca>Tca p.P46S RP11-465I4.2_ENST00000583991.1_RNA NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 46 PH. insulin receptor binding p.P46S(1) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) AGAAAAATTTCCAGATGAAAA 0.418000 11 19 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111956585 111956585 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:111956585G>A ENST00000374566.3 - 21 2655 c.2138C>T c.(2137-2139)tCc>tTc p.S713F NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 713 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CAGCGGCACGGAGACTTGTGT 0.612000 29 65 0 0 1 0 0 IHH 3549 broad.mit.edu 37 2 219925171 219925171 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:219925171G>A ENST00000295731.5 - 1 18 c.19C>T c.(19-21)Cgg>Tgg p.R7W NM_002181.3 NP_002172.2 Q14623 IHH_HUMAN indian hedgehog 7 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGTCGGGGCCGGAGCCGGGCG 0.781000 5 10 0 0 1 0 0 GRHL1 29841 broad.mit.edu 37 2 10091972 10091972 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:10091972G>A ENST00000324907.9 + 1 146 c.10G>A c.(10-12)Gag>Aag p.E4K GRHL1_ENST00000405379.2_Intron|GRHL1_ENST00000324883.5_5'UTR NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 4 Transcription activation. cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) GATGACACAGGAGTACGACAA 0.751000 8 16 0 0 1 0 0 CCIN 881 broad.mit.edu 37 9 36169648 36169648 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:36169648C>T ENST00000335119.2 + 1 260 c.149C>T c.(148-150)tCc>tTc p.S50F NM_005893.2 NP_005884.2 Q13939 CALI_HUMAN calicin 50 BTB. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) GCTGCTGTCTCCCCACTGGTG 0.532000 19 10 0 0 1 0 0 FAM177B 400823 broad.mit.edu 37 1 222919901 222919901 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:222919901G>A ENST00000445590.2 + 3 280 c.14G>A c.(13-15)gGt>gAt p.G5D FAM177B_ENST00000360827.2_Missense_Mutation_p.G5D NM_207468.2 NP_997351.2 A6PVY3 F177B_HUMAN family with sequence similarity 177, member B 5 breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 8 GAGATTGACGGTTTCCAGCAG 0.383000 13 23 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45130774 45130774 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:45130774C>T ENST00000457685.2 - 6 2413 c.1090G>A c.(1090-1092)Gaa>Aaa p.E364K ZNF334_ENST00000593880.1_Missense_Mutation_p.E425K|ZNF334_ENST00000347606.4_Missense_Mutation_p.E402K Q9HCZ1 ZN334_HUMAN zinc finger protein 334 402 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) TAGGGTTTTTCCCCTGTGTGA 0.433000 36 65 0 0 1 0 0 RP11-166D19.1 0 broad.mit.edu 37 11 121970470 121970470 + RNA SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:121970470G>A ENST00000531381.1 - 0 732 MIR125B1_ENST00000385236.1_RNA GCAAAAGCACGACTCGCAGCT 0.413000 10 20 0 0 1 0 0 C19orf55 148137 broad.mit.edu 37 19 36256066 36256066 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:36256066C>T ENST00000544099.1 + 7 821 c.758C>T c.(757-759)cCc>cTc p.P253L C19orf55_ENST00000396908.4_Missense_Mutation_p.P253L Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 253 cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGCCTTGGCCCCAGGGCACCC 0.617000 13 22 0 0 1 0 0 ALDH1A1 216 broad.mit.edu 37 9 75526907 75526907 + Missense_Mutation SNP A A C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:75526907A>C ENST00000297785.3 - 10 1221 c.1167T>G c.(1165-1167)aaT>aaG p.N389K NM_000689.4 NP_000680.2 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1 family, member A1 389 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1) 17 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CATCTGTAACATTAGAGAACA 0.453000 30 13 0 0 1 0 0 ZNF257 113835 broad.mit.edu 37 19 22255619 22255619 + Silent SNP G G C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:22255619G>C ENST00000594947.1 + 2 156 c.12G>C c.(10-12)ctG>ctC p.L4L ZNF257_ENST00000600162.1_Silent_p.L4L NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 4 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) AGGGACCACTGACAATTAGGG 0.408000 32 51 0 0 1 0 0 ZBTB32 27033 broad.mit.edu 37 19 36205964 36205964 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:36205964G>A ENST00000392197.2 + 3 754 c.436G>A c.(436-438)Gga>Aga p.G146R ZBTB32_ENST00000262630.3_Missense_Mutation_p.G146R Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 146 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGGGGACCCTGGAGAGAAGCA 0.547000 13 18 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114269985 114269985 + Silent SNP A A G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:114269985A>G ENST00000393500.3 + 11 1117 c.297A>G c.(295-297)caA>caG p.Q99Q FOXP2_ENST00000360232.4_Silent_p.Q174Q|FOXP2_ENST00000393494.2_Silent_p.Q174Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q82Q|FOXP2_ENST00000393489.3_Silent_p.Q82Q|FOXP2_ENST00000378237.3_Silent_p.Q174Q|FOXP2_ENST00000393498.2_Silent_p.Q154Q|FOXP2_ENST00000408937.3_Silent_p.Q199Q|FOXP2_ENST00000350908.4_Silent_p.Q174Q|FOXP2_ENST00000390668.3_Silent_p.Q198Q|FOXP2_ENST00000403559.4_Silent_p.Q191Q O15409 FOXP2_HUMAN forkhead box P2 174 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q199Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 aacaacaacaacagcagcaac 0.502000 3 57 0 0 1 0 0 ZNF257 113835 broad.mit.edu 37 19 22271743 22271743 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:22271743G>A ENST00000594947.1 + 4 1335 c.1191G>A c.(1189-1191)gaG>gaA p.E397E NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) ATACTAGAGAGAAGGCCTACA 0.373000 5 4 0 0 1 0 0 GCAT 23464 broad.mit.edu 37 22 38211173 38211173 + Missense_Mutation SNP C C T rs142152598 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr22:38211173C>T ENST00000323205.6 + 5 758 c.695C>T c.(694-696)tCc>tTc p.S232F GCAT_ENST00000248924.6_Missense_Mutation_p.S206F NM_001171690.1 NP_001165161.1 O75600 KBL_HUMAN glycine C-acetyltransferase 206 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups p.S206F(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 12 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) GGGGCCTTTTCCATGGATGGC 0.587000 15 24 0 0 1 0 0 OR10H2 26538 broad.mit.edu 37 19 15839084 15839084 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:15839084C>T ENST00000305899.3 + 1 251 c.231C>T c.(229-231)atC>atT p.I77I NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) CCGTGGCCATCATCCCGCGCA 0.622000 20 36 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125261910 125261910 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:125261910C>T ENST00000431078.1 + 8 1465 c.1101C>T c.(1099-1101)ccC>ccT p.P367P NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 367 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding p.P367Q(1)|p.P367P(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) AGATTGTGCCCATCACATTTG 0.463000 29 38 0 0 1 0 0 RUNDC1 146923 broad.mit.edu 37 17 41143231 41143231 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:41143231C>T ENST00000361677.1 + 5 1352 c.1340C>T c.(1339-1341)cCa>cTa p.P447L NM_173079.2 NP_775102.2 Q96C34 RUND1_HUMAN RUN domain containing 1 447 RUN. breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) GCCTCCTCCCCAGGGATGAGC 0.582000 17 15 0 0 1 0 0 OR1C1 26188 broad.mit.edu 37 1 247921025 247921025 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:247921025G>A ENST00000408896.2 - 1 957 c.684C>T c.(682-684)atC>atT p.I228I NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GAGTAGAGGTGATCTTCAGAA 0.493000 13 11 0 0 1 0 0 OAS1 4938 broad.mit.edu 37 12 113357227 113357227 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:113357227G>A ENST00000202917.5 + 6 1335 c.1072G>A c.(1072-1074)Gat>Aat p.D358N RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Intron|OAS1_ENST00000551241.1_Intron NM_016816.2 NP_058132.2 P00973 OAS1_HUMAN 2'-5'-oligoadenylate synthetase 1, 40/46kDa 358 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding p.D358N(2) cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1) 16 TGAGACCGACGATCCCAGGAG 0.507000 20 32 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44578685 44578685 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:44578685G>A ENST00000289547.4 - 2 1366 c.1311C>T c.(1309-1311)gaC>gaT p.D437D NPC1L1_ENST00000423141.1_Silent_p.D437D|NPC1L1_ENST00000381160.3_Silent_p.D437D|NPC1L1_ENST00000546276.1_Silent_p.D437D NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 437 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GCAAGTCCAGGTCCAGGATTC 0.597000 15 25 0 0 1 0 0 PTGER3 5733 broad.mit.edu 37 1 71478068 71478068 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:71478068G>A ENST00000370924.4 - 2 1227 c.997C>T c.(997-999)Cgc>Tgc p.R333C PTGER3_ENST00000370931.3_Missense_Mutation_p.R333C|PTGER3_ENST00000306666.5_Missense_Mutation_p.R333C|PTGER3_ENST00000351052.5_Missense_Mutation_p.R333C|PTGER3_ENST00000356595.4_Missense_Mutation_p.R333C|PTGER3_ENST00000354608.5_Missense_Mutation_p.R333C|PTGER3_ENST00000460330.1_Missense_Mutation_p.R333C|PTGER3_ENST00000370932.2_Missense_Mutation_p.R333C|PTGER3_ENST00000414819.1_Missense_Mutation_p.R333C NM_198715.2 NP_942008.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 333 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity p.R333S(1) endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) GAAGCCAGGCGAACAGCTATT 0.428000 12 8 0 0 1 0 0 SEPT3 55964 broad.mit.edu 37 22 42388763 42388763 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr22:42388763C>T ENST00000396425.3 + 8 992 c.861C>T c.(859-861)atC>atT p.I287I SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000396426.3_Silent_p.I287I|SEPT3_ENST00000291236.11_Silent_p.I223I|SEPT3_ENST00000406029.1_Silent_p.I223I NM_019106.5 NP_061979.3 Q9UH03 SEPT3_HUMAN septin 3 287 cell cycle|cytokinesis cell junction|septin complex GTP binding breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GGGGGATCATCGAAGGTAATT 0.483000 5 2 0 0 1 0 0 GPR141 353345 broad.mit.edu 37 7 37780713 37780713 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:37780713C>T ENST00000447769.1 + 4 1007 c.718C>T c.(718-720)Ccc>Tcc p.P240S GPR141_ENST00000334425.1_Missense_Mutation_p.P240S|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 240 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TTGTTTCCTTCCCTACCAGTT 0.418000 24 56 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9067346 9067346 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:9067346G>A ENST00000397910.4 - 3 20303 c.20100C>T c.(20098-20100)tcC>tcT p.S6700S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6702 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGCCTGGAATGGATGTTCTTC 0.483000 60 83 0 0 1 0 0 HTR7P1 93164 broad.mit.edu 37 12 13155476 13155476 + RNA SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:13155476C>T ENST00000543321.1 + 0 31 HTR7P1_ENST00000535469.1_RNA GACAGCCAGACCCTTCTGTCT 0.527000 12 18 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133946923 133946923 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:133946923C>T ENST00000361069.4 + 18 3255 c.3122C>T c.(3121-3123)tCc>tTc p.S1041F LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 1041 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CTCCAAGGGTCCGACTGTGGC 0.607000 28 46 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73961871 73961871 + Missense_Mutation SNP T T A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chrX:73961871T>A ENST00000373468.1 - 3 3172 c.2521A>T c.(2521-2523)Aat>Tat p.N841Y KIAA2022_ENST00000055682.5_Missense_Mutation_p.N841Y Q5QGS0 K2022_HUMAN KIAA2022 841 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 CTGCCTTCATTTTGCTCTGGA 0.483000 26 7 0 0 1 0 0 CD200R1 131450 broad.mit.edu 37 3 112648256 112648256 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:112648256G>A ENST00000471858.1 - 3 464 c.232C>T c.(232-234)Ctg>Ttg p.L78L CD200R1_ENST00000490004.1_Silent_p.L78L|CD200R1_ENST00000295863.4_Silent_p.L56L|CD200R1_ENST00000440122.2_Silent_p.L101L|CD200R1_ENST00000308611.3_Silent_p.L101L NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 78 Ig-like V-type. interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 TGGCCTCTCAGGATTATTTCC 0.423000 16 30 0 0 1 0 0 IGHG1 3500 broad.mit.edu 37 14 106204124 106204124 + RNA SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr14:106204124C>T ENST00000390548.2 - 0 1174 GATCATGTTCCTGTAGTCGGG 0.647000 28 30 0 0 1 0 0 RP11-876N24.2 0 broad.mit.edu 37 16 10960208 10960208 + RNA SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:10960208G>A ENST00000572017.1 - 0 438 CATCAGCCCAGCCTGGTGCAG 0.607000 14 11 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215848503 215848503 + Missense_Mutation SNP C C T rs78964730 byFrequency TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:215848503C>T ENST00000272895.7 - 29 4469 c.4250G>A c.(4249-4251)cGg>cAg p.R1417Q ABCA12_ENST00000389661.4_Missense_Mutation_p.R1099Q NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1417 ABC transporter 1. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CATGTTCTTCCGTACCGTGTG 0.453000 24 53 0 0 1 0 0 ITK 3702 broad.mit.edu 37 5 156667109 156667109 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr5:156667109G>A ENST00000422843.3 + 10 1041 c.889G>A c.(889-891)Gaa>Aaa p.E297K NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 297 SH2. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCACATCAAGGAAACAAATGA 0.348000 T SYK peripheral T-cell lymphoma 15 10 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94883438 94883438 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr15:94883438G>A ENST00000357742.4 + 5 791 c.791G>A c.(790-792)cGa>cAa p.R264Q MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.R264Q|MCTP2_ENST00000543482.1_Missense_Mutation_p.R264Q NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 264 C2 1. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GTATATGATCGAGATTTAACC 0.318000 19 40 0 0 1 0 0 SYTL2 54843 broad.mit.edu 37 11 85436411 85436411 + Silent SNP A A G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:85436411A>G ENST00000359152.5 - 1 2660 c.2661T>C c.(2659-2661)gaT>gaC p.D887D SYTL2_ENST00000354566.3_Silent_p.D363D|SYTL2_ENST00000525423.1_Silent_p.D363D|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 0 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) GAAAAAGCATATCTTGGGGAG 0.483000 22 28 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56369832 56369832 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:56369832G>A ENST00000301295.6 + 3 1495 c.1073G>A c.(1072-1074)gGa>gAa p.G358E NLRP4_ENST00000346986.5_Missense_Mutation_p.G358E|NLRP4_ENST00000587891.1_Missense_Mutation_p.G283E NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 358 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ATGCAGAAAGGAAAAGACCTG 0.512000 4 16 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104033936 104033936 + Silent SNP C C T rs144975292 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:104033936C>T ENST00000388887.2 + 9 1146 c.942C>T c.(940-942)ttC>ttT p.F314F NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 314 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.F314F(1) NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 ACCAGAATTTCGTACCTGGAG 0.448000 31 40 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103718289 103718289 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr13:103718289C>T ENST00000245312.3 - 1 907 c.311G>A c.(310-312)gGa>gAa p.G104E NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 104 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AGGGCAGCATCCTATAATGAG 0.517000 33 38 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38595774 38595774 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:38595774G>A ENST00000413689.1 - 27 5002 c.4809C>T c.(4807-4809)atC>atT p.I1603I SCN5A_ENST00000443581.1_Silent_p.I1602I|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000423572.2_Silent_p.I1602I|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000414099.2_Silent_p.I1585I|SCN5A_ENST00000451551.2_Silent_p.I1549I|SCN5A_ENST00000333535.4_Silent_p.I1603I|SCN5A_ENST00000450102.2_Silent_p.I1549I|SCN5A_ENST00000449557.2_Silent_p.I1549I|SCN5A_ENST00000425664.1_Silent_p.I1585I NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1603 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) ACCCACCCACGATGGAGAGGA 0.562000 20 5 0 0 1 0 0 SEC24B 10427 broad.mit.edu 37 4 110415963 110415963 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr4:110415963G>A ENST00000265175.5 + 6 1494 c.1439G>A c.(1438-1440)gGa>gAa p.G480E SEC24B_ENST00000504968.2_Missense_Mutation_p.G511E|SEC24B_ENST00000399100.2_Missense_Mutation_p.G445E NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 480 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) CTTATTTCTGGAGTACAGCCC 0.418000 30 14 0 0 1 0 0 CPNE9 151835 broad.mit.edu 37 3 9768363 9768363 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:9768363C>T ENST00000383832.3 + 19 1549 c.1359C>T c.(1357-1359)ccC>ccT p.P453P CPNE9_ENST00000383831.3_Silent_p.P453P NM_153635.2 NP_705899.2 Q8IYJ1 CPNE9_HUMAN copine family member IX 453 VWFA. breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) CCTCATTGCCCATGTCTATCA 0.527000 22 50 0 0 1 0 0 OR14A16 284532 broad.mit.edu 37 1 247978950 247978950 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:247978950G>A ENST00000357627.1 - 1 81 c.82C>T c.(82-84)Ctc>Ttc p.L28F NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 AACAAGAAGAGAATCGAATGC 0.388000 9 15 0 0 1 0 0 INTS4P2 644619 broad.mit.edu 37 7 65157789 65157789 + RNA SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:65157789G>A ENST00000430126.2 + 0 1116 GCCTACCTCCGAGACAGTCTT 0.423000 10 38 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9310436 9310436 + Splice_Site SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:9310436C>T ENST00000261336.2 - 27 3324 c.3294_splice c.e27-1 p.G1099_splice PZP_ENST00000381997.2_Splice_Site_p.G885_splice NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TTCTACACCTCCCTGTGAATA 0.438000 5 6 0 0 1 0 0 ITGB6 3694 broad.mit.edu 37 2 161052932 161052932 + Splice_Site SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:161052932C>T ENST00000283249.2 - 3 379 c.e3-1 ITGB6_ENST00000485635.1_Splice_Site|ITGB6_ENST00000409967.2_Splice_Site|ITGB6_ENST00000409872.1_Splice_Site|ITGB6_ENST00000428609.2_Splice_Site P18564 ITB6_HUMAN integrin, beta 6 cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 GAGTAAAATTCTAAAAAAGAA 0.338000 29 44 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42635408 42635408 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:42635408C>T ENST00000358131.5 + 3 622 c.414C>T c.(412-414)caC>caT p.H138H TOX2_ENST00000372999.1_Silent_p.H87H|TOX2_ENST00000423191.1_Silent_p.H87H|TOX2_ENST00000341197.3_Silent_p.H129H NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) AGGACAGCCACCTGCTGTCGG 0.617000 7 15 0 0 1 0 0 TSPEAR 54084 broad.mit.edu 37 21 45987709 45987709 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr21:45987709G>A ENST00000323084.4 - 2 328 c.263C>T c.(262-264)tCc>tTc p.S88F TSPEAR_ENST00000397916.1_Missense_Mutation_p.S20F NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 88 TSP N-terminal. cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 TACGACGATGGAAAATTCTTC 0.522000 13 21 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167055212 167055212 + Missense_Mutation SNP T T A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:167055212T>A ENST00000303354.6 - 27 6280 c.5940A>T c.(5938-5940)aaA>aaT p.K1980N AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.K1979N|SCN9A_ENST00000409672.1_Missense_Mutation_p.K1968N|SCN9A_ENST00000375387.4_Missense_Mutation_p.K1980N Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1979 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TGTCTTTCCCTTTGTCTTCCT 0.358000 7 9 0 0 1 0 0 TRIM54 57159 broad.mit.edu 37 2 27521556 27521556 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:27521556G>A ENST00000296098.4 + 2 560 c.290G>A c.(289-291)cGa>cAa p.R97Q TRIM54_ENST00000380075.2_Missense_Mutation_p.R97Q NM_032546.3 NP_115935.3 Q9BYV2 TRI54_HUMAN tripartite motif containing 54 97 cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding p.R81Q(1) cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCCTGCAGCGAAACCTGCTA 0.572000 14 14 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28483301 28483301 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr15:28483301G>A ENST00000261609.7 - 25 3919 c.3811C>T c.(3811-3813)Cgg>Tgg p.R1271W NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 1271 Cytochrome b5 heme-binding. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ATGGATTCCCGGGTGTCTTCA 0.493000 23 41 0 0 1 0 0 MAP2K1 5604 broad.mit.edu 37 15 66729162 66729162 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr15:66729162C>T ENST00000307102.5 + 3 901 c.370C>T c.(370-372)Ccg>Tcg p.P124S NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 124 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P124S(8) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 GTGCAACTCTCCGTACATCGT 0.507000 25 26 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823280 38823280 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr22:38823280G>A ENST00000303592.3 - 2 1116 c.858C>T c.(856-858)atC>atT p.I286I RP3-434P1.6_ENST00000433230.1_RNA NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 286 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) GGATGACCACGATCTCAAAGT 0.622000 13 19 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153655045 153655045 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:153655045C>T ENST00000368680.3 + 5 1715 c.1243C>T c.(1243-1245)Ccc>Tcc p.P415S NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 415 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GGATATGGATCCCGAGAATGG 0.522000 7 13 0 0 1 0 0 IRX4 50805 broad.mit.edu 37 5 1879629 1879629 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr5:1879629G>A ENST00000505790.1 - 5 1181 c.725C>T c.(724-726)tCc>tTc p.S242F IRX4_ENST00000231357.2_Missense_Mutation_p.S242F|IRX4_ENST00000513692.1_Missense_Mutation_p.S242F|IRX4_ENST00000505938.1_5'UTR NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 242 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) TGCGTTCTTGGAGCTCTTGAG 0.682000 23 8 0 0 1 0 0 OR1E2 8388 broad.mit.edu 37 17 3336383 3336383 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:3336383G>A ENST00000248384.1 - 1 752 c.753C>T c.(751-753)ggC>ggT p.G251G NM_003554.1 NP_003545.1 P47887 OR1E2_HUMAN olfactory receptor, family 1, subfamily E, member 2 251 sensory perception of smell integral to plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3) 9 AGAGGTGGGAGCCACAAGTAG 0.478000 9 29 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6828862 6828862 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:6828862G>A ENST00000304076.2 + 13 1310 c.1216G>A c.(1216-1218)Gac>Aac p.D406N VAV1_ENST00000596764.1_Missense_Mutation_p.D374N|VAV1_ENST00000602142.1_Missense_Mutation_p.D406N|VAV1_ENST00000539284.1_Missense_Mutation_p.D309N|VAV1_ENST00000599806.1_Missense_Mutation_p.D351N NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 406 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GCCCAAGATCGACGGGGAACT 0.597000 13 21 0 0 1 0 0 FAM184A 79632 broad.mit.edu 37 6 119341252 119341252 + Missense_Mutation SNP G G A rs141308759 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:119341252G>A ENST00000338891.7 - 4 1666 c.1223C>T c.(1222-1224)tCg>tTg p.S408L RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.S288L|FAM184A_ENST00000521531.1_Missense_Mutation_p.S408L|FAM184A_ENST00000522284.1_Missense_Mutation_p.S288L|FAM184A_ENST00000352896.5_Missense_Mutation_p.S288L NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 408 p.S408L(1) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 ATTGACTCTCGATTTTTCTGA 0.373000 22 20 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184049296 184049296 + Missense_Mutation SNP C C T rs147696097 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:184049296C>T ENST00000342981.4 + 29 4714 c.4300C>T c.(4300-4302)Cct>Tct p.P1434S EIF4G1_ENST00000382330.3_Missense_Mutation_p.P1440S|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P1440S|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P1270S|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P1269S|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P1433S|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P1237S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P1238S|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P1346S|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P1433S|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P1347S|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P1440S|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P1394S|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P1393S NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 1433 W2. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GTCGGAAGCCCCTGGCCAGAG 0.572000 61 97 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140434522 140434522 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:140434522G>A ENST00000288602.6 - 18 2236 c.2176C>T c.(2176-2178)Cgc>Tgc p.R726C NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 726 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) GATGCACTGCGGTGAATTTTT 0.403000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 56 81 0 0 1 0 0 FAM192A 80011 broad.mit.edu 37 16 57206772 57206772 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:57206772C>T ENST00000309137.8 - 3 400 c.142G>A c.(142-144)Gtt>Att p.V48I FAM192A_ENST00000566077.1_5'UTR|FAM192A_ENST00000389447.5_Missense_Mutation_p.V48I|FAM192A_ENST00000569266.1_Missense_Mutation_p.V48I|FAM192A_ENST00000564108.1_Missense_Mutation_p.V48I|FAM192A_ENST00000567439.1_Missense_Mutation_p.V48I NM_024946.2 NP_079222.1 Q9GZU8 F192A_HUMAN family with sequence similarity 192, member A 48 nucleus endometrium(2)|large_intestine(3)|lung(4)|prostate(2) 11 GGGTCATAAACCTCCTCTGGA 0.428000 15 28 0 0 1 0 0 IQGAP3 128239 broad.mit.edu 37 1 156500019 156500019 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:156500019G>A ENST00000361170.2 - 34 4292 c.4282C>T c.(4282-4284)Cac>Tac p.H1428Y NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1428 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGGAGGGAGTGAGCTGTCAGT 0.652000 14 15 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 99640534 99640534 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:99640534G>A ENST00000547776.2 - 13 1864 c.1865C>T c.(1864-1866)cCa>cTa p.P622L ANKS1B_ENST00000329257.7_Missense_Mutation_p.P622L|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.P202L NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 622 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GAGATGAAATGGATTTTCAGG 0.448000 42 69 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7586024 7586024 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:7586024C>T ENST00000313599.3 - 3 448 c.391G>A c.(391-393)Gaa>Aaa p.E131K CD163L1_ENST00000416109.2_Missense_Mutation_p.E131K|CD163L1_ENST00000396630.1_Missense_Mutation_p.E131K Q9NR16 C163B_HUMAN CD163 molecule-like 1 131 SRCR 1. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CTTCCCCATTCCCGGTGTTGA 0.438000 21 48 0 0 1 0 0 MINA 84864 broad.mit.edu 37 3 97686114 97686114 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:97686114C>T ENST00000333396.6 - 2 906 c.324G>A c.(322-324)ggG>ggA p.G108G MINA_ENST00000394198.2_Silent_p.G108G|MINA_ENST00000330299.2_Silent_p.G108G|MINA_ENST00000360258.4_Silent_p.G108G NM_001042533.2|NM_032778.5 NP_001035998.1|NP_116167.3 Q8IUF8 MINA_HUMAN MYC induced nuclear antigen 108 ribosome biogenesis cytoplasm|nucleolus breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1) 13 CCTTCTTCTTCCCATTGACAC 0.438000 78 139 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20010427 20010427 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr13:20010427C>T ENST00000400230.2 - 15 1099 c.1055G>A c.(1054-1056)gGa>gAa p.G352E TPTE2_ENST00000382977.4_Missense_Mutation_p.G352E|TPTE2_ENST00000400103.2_Missense_Mutation_p.G241E|TPTE2_ENST00000382975.4_Missense_Mutation_p.G312E|TPTE2_ENST00000255310.6_Missense_Mutation_p.G275E|TPTE2_ENST00000457266.2_Missense_Mutation_p.G241E|TPTE2_ENST00000390680.2_Missense_Mutation_p.G275E|TPTE2_ENST00000382978.1_Missense_Mutation_p.G312E Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 352 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TCGCCTTTCTCCAAAATAATA 0.368000 9 17 0 0 1 0 0 TBX18 9096 broad.mit.edu 37 6 85446859 85446859 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:85446859G>A ENST00000369663.5 - 8 1705 c.1368C>T c.(1366-1368)tcC>tcT p.S456S TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 456 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CGCCCACATAGGAGGGAGTCC 0.582000 31 45 0 0 1 0 0 PKD2L2 27039 broad.mit.edu 37 5 137243556 137243556 + Nonsense_Mutation SNP T T A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr5:137243556T>A ENST00000508638.1 + 7 1156 c.1101T>A c.(1099-1101)taT>taA p.Y367* PKD2L2_ENST00000502810.1_Nonsense_Mutation_p.Y345*|PKD2L2_ENST00000350250.4_Nonsense_Mutation_p.Y333*|PKD2L2_ENST00000290431.5_Nonsense_Mutation_p.Y367*|PKD2L2_ENST00000508883.1_Nonsense_Mutation_p.Y367* NM_001258449.1 NP_001245378.1 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 367 integral to membrane calcium ion binding|ion channel activity breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GGCACATTTATTACAATAATA 0.259000 10 2 0 0 1 0 0 MYLK3 91807 broad.mit.edu 37 16 46771695 46771695 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:46771695G>A ENST00000394809.4 - 3 1044 c.929C>T c.(928-930)cCt>cTt p.P310L MYLK3_ENST00000536476.1_Intron NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 310 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TGGGCACTGAGGGCCAGGCCC 0.652000 32 43 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24817049 24817049 + Splice_Site SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr10:24817049G>A ENST00000376451.2 + 9 2391 c.e9+1 KIAA1217_ENST00000376454.3_Splice_Site|KIAA1217_ENST00000430453.2_Splice_Site|KIAA1217_ENST00000458595.1_Splice_Site|KIAA1217_ENST00000376462.1_Splice_Site|KIAA1217_ENST00000376452.3_Splice_Site|KIAA1217_ENST00000307544.6_Splice_Site|KIAA1217_ENST00000396446.1_Splice_Site|KIAA1217_ENST00000396445.1_Splice_Site Q5T5P2 SKT_HUMAN KIAA1217 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 GAACTTTCAGGTAAGTTCCGG 0.512000 3 31 0 0 1 0 0 AQP10 89872 broad.mit.edu 37 1 154296186 154296186 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:154296186C>T ENST00000484864.1 + 5 647 c.611C>T c.(610-612)tCc>tTc p.S204F AQP10_ENST00000324978.3_Missense_Mutation_p.S204F|AQP10_ENST00000355197.4_3'UTR Q96PS8 AQP10_HUMAN aquaporin 10 204 response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1) 23 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTCGGGTTATCCATGGGTGCC 0.632000 35 61 0 0 1 0 0 CACTIN 58509 broad.mit.edu 37 19 3612182 3612182 + Silent SNP G G A rs147636108 by1000genomes TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:3612182G>A ENST00000429344.2 - 10 2068 c.2016C>T c.(2014-2016)atC>atT p.I672I CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000248420.5_Silent_p.I672I|CACTIN_ENST00000221899.3_Silent_p.I604I NM_001080543.1 NP_001074012.1 cactin, spliceosome C complex subunit ATCCCTGCACGATCTTGGGCG 0.582000 76 102 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 213872299 213872299 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:213872299C>T ENST00000457361.1 - 8 1534 c.1366G>A c.(1366-1368)Gac>Aac p.D456N IKZF2_ENST00000421754.2_Missense_Mutation_p.D382N|IKZF2_ENST00000374327.4_Missense_Mutation_p.D311N|IKZF2_ENST00000451136.2_Missense_Mutation_p.D384N|IKZF2_ENST00000374319.4_Missense_Mutation_p.D430N|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000434687.1_Missense_Mutation_p.D456N|IKZF2_ENST00000342002.2_Missense_Mutation_p.D462N NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D456N(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TTGTAGATGTCCTTCAGAGAG 0.473000 36 85 0 0 1 0 0 TAF7 6879 broad.mit.edu 37 5 140698781 140698781 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr5:140698781C>T ENST00000313368.5 - 1 1549 c.831G>A c.(829-831)ctG>ctA p.L277L NM_005642.2 NP_005633.2 Q15545 TAF7_HUMAN TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa 277 negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding p.L277L(1) central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCCATAACCAGCTGATTGG 0.443000 37 15 0 0 1 0 0 PID1 55022 broad.mit.edu 37 2 229890561 229890561 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:229890561G>A ENST00000392054.3 - 4 873 c.534C>T c.(532-534)ttC>ttT p.F178F PID1_ENST00000409462.1_Silent_p.F98F|PID1_ENST00000354069.6_Silent_p.F180F|PID1_ENST00000392055.3_Silent_p.F147F|PID1_ENST00000482518.2_Intron NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 180 PID. cytoplasm p.F178F(2) breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) AGACCCAGGCGAAGATGTTGG 0.602000 34 39 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108189571 108189571 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:108189571C>T ENST00000273353.3 - 14 1473 c.1417G>A c.(1417-1419)Gac>Aac p.D473N NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 473 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CCAGTGATGTCAAGAATGCCA 0.413000 15 18 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53189313 53189313 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:53189313C>T ENST00000417996.2 - 1 588 c.514G>A c.(514-516)Gaa>Aaa p.E172K KRT3_ENST00000309505.3_Missense_Mutation_p.E172K NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 172 Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity p.E172K(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 ATAGTCACTTCCTGAATTCCC 0.597000 19 26 0 0 1 0 0 NUDT1 4521 broad.mit.edu 37 7 2289596 2289596 + Missense_Mutation SNP T T C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:2289596T>C ENST00000397049.1 + 4 428 c.326T>C c.(325-327)tTc>tCc p.F109S NUDT1_ENST00000356714.1_Missense_Mutation_p.F86S|NUDT1_ENST00000343985.4_Missense_Mutation_p.F109S|NUDT1_ENST00000339737.2_Missense_Mutation_p.F86S|NUDT1_ENST00000397048.1_Missense_Mutation_p.F109S|NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000397046.1_Missense_Mutation_p.F86S NM_198948.1|NM_198949.1 NP_945186.1|NP_945187.1 P36639 8ODP_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 1 127 Nudix hydrolase. DNA protection|DNA repair|response to oxidative stress cytoplasm 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding large_intestine(3)|lung(8)|urinary_tract(1) 12 Ovarian(82;0.0253)|Melanoma(862;0.155) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15) GTGCATGTCTTCTGCACAGAC 0.642000 Modulation of nucleotide pools 54 81 0 0 1 0 0 CFHR3 10878 broad.mit.edu 37 1 196748942 196748942 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:196748942C>T ENST00000471440.2 + 3 343 c.269C>T c.(268-270)cCt>cTt p.P90L CFHR3_ENST00000367425.4_Missense_Mutation_p.P90L|CFHR3_ENST00000391985.3_Missense_Mutation_p.P90L complement factor H-related 3 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 TGTTATTTTCCTTATTTGGAA 0.303000 4 10 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53669384 53669384 + Missense_Mutation SNP A A G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:53669384A>G ENST00000600412.1 - 2 279 c.164T>C c.(163-165)cTc>cCc p.L55P ZNF665_ENST00000396424.3_Missense_Mutation_p.L120P Q9H7R5 ZN665_HUMAN zinc finger protein 665 55 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TCTACCAGGGAGATTTTCTTT 0.403000 46 61 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12661487 12661487 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:12661487C>T ENST00000425538.1 + 12 2488 c.2288C>T c.(2287-2289)tCa>tTa p.S763L MYOCD_ENST00000395988.1_Missense_Mutation_p.S667L|MYOCD_ENST00000343344.4_Missense_Mutation_p.S715L NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 715 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TCAGCAATTTCAGAGGTAACA 0.408000 14 20 0 0 1 0 0 RBMS2 5939 broad.mit.edu 37 12 56965488 56965488 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:56965488G>A ENST00000262031.5 + 5 486 c.391G>A c.(391-393)Gaa>Aaa p.E131K RBMS2_ENST00000550726.1_Missense_Mutation_p.E6K|RBMS2_ENST00000549945.1_3'UTR|RBMS2_ENST00000552247.2_Missense_Mutation_p.E131K|RBMS2_ENST00000542360.1_Intron NM_002898.3 NP_002889.1 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting protein 2 131 RNA processing nucleus nucleotide binding|RNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1) 18 ACAGCAACAGGAACAGGACCC 0.483000 24 20 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62324500 62324500 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:62324500C>T ENST00000318100.4 + 30 3683 c.2856C>T c.(2854-2856)ttC>ttT p.F952F RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.F952F|RTEL1_ENST00000370003.1_Silent_p.F197F|RTEL1_ENST00000370018.3_Silent_p.F952F|RTEL1_ENST00000508582.2_Silent_p.F976F|RTEL1_ENST00000360203.5_Silent_p.F952F Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 952 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CTACAGGCTTCTACCAGTTTG 0.602000 44 58 0 0 1 0 0 TNFAIP2 7127 broad.mit.edu 37 14 103593823 103593823 + Missense_Mutation SNP C C G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr14:103593823C>G ENST00000560869.1 + 3 1356 c.717C>G c.(715-717)ttC>ttG p.F239L TNFAIP2_ENST00000333007.1_Missense_Mutation_p.F239L Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 239 angiogenesis|cell differentiation extracellular space NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 11 Melanoma(154;0.155) Epithelial(46;0.191) AGCCGCTGTTCCCCGCCGAGT 0.721000 10 8 0 0 1 0 0 ITIH3 3699 broad.mit.edu 37 3 52836730 52836730 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:52836730G>A ENST00000449956.2 + 13 1623 c.1617G>A c.(1615-1617)atG>atA p.M539I ITIH3_ENST00000416872.2_Intron NM_002217.3 NP_002208.3 Q06033 ITIH3_HUMAN inter-alpha-trypsin inhibitor heavy chain 3 539 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) TGAAGGAGATGGAGAAGGCCC 0.592000 22 18 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13769570 13769570 + Missense_Mutation SNP A A G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:13769570A>G ENST00000279593.3 - 5 1356 c.1147T>C c.(1147-1149)Tcc>Ccc p.S383P NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 383 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATCTGCAGGGACTTGTCTTTC 0.498000 15 31 0 0 1 0 0 SYK 6850 broad.mit.edu 37 9 93650798 93650798 + Splice_Site SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:93650798G>A ENST00000375754.4 + 13 1872 c.1722_splice c.e13-1 p.G575_splice SYK_ENST00000375747.1_Splice_Site_p.G552_splice|SYK_ENST00000375751.4_Splice_Site_p.G552_splice|SYK_ENST00000375746.1_Splice_Site_p.G575_splice NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 575 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 ATGTTGTAGGGGATGAAAGGA 0.428000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 4 9 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46826212 46826212 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:46826212G>A ENST00000283296.7 - 17 3716 c.3428C>T c.(3427-3429)tCg>tTg p.S1143L GPR116_ENST00000545669.1_Missense_Mutation_p.S572L|GPR116_ENST00000265417.7_Missense_Mutation_p.S1143L|GPR116_ENST00000362015.4_Missense_Mutation_p.S1143L|GPR116_ENST00000456426.2_Missense_Mutation_p.S1001L NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 1143 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) CGTGATGACCGAGATGGCAAG 0.552000 8 17 0 0 1 0 0 PRKAR1A 5573 broad.mit.edu 37 17 66522027 66522027 + Nonsense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:66522027C>T ENST00000589228.1 + 7 810 c.682C>T c.(682-684)Cga>Tga p.R228* PRKAR1A_ENST00000536854.2_Nonsense_Mutation_p.R228*|PRKAR1A_ENST00000586397.1_Nonsense_Mutation_p.R228*|PRKAR1A_ENST00000392711.1_Nonsense_Mutation_p.R228*|PRKAR1A_ENST00000358598.2_Nonsense_Mutation_p.R228*|PRKAR1A_ENST00000588188.2_Nonsense_Mutation_p.R228* NM_001276289.1|NM_001278433.1 NP_001263218.1|NP_001265362.1 P10644 KAP0_HUMAN protein kinase, cAMP-dependent, regulatory, type I, alpha 228 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1) 31 Breast(10;1.64e-13) GGGCATCGACCGAGACAGCTA 0.418000 """T, Mis, N, F, S""" RET papillary thyroid """myxoma, endocrine, papillary thyroid""" Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of 14 5 0 0 1 0 0 USP19 10869 broad.mit.edu 37 3 49147649 49147649 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:49147649G>A ENST00000453664.1 - 26 4288 c.3970C>T c.(3970-3972)Cta>Tta p.L1324L USP19_ENST00000417901.1_Silent_p.L1336L|USP19_ENST00000398888.2_Silent_p.L1233L|USP19_ENST00000398892.3_Silent_p.L1273L|USP19_ENST00000398896.1_Silent_p.L1041L|USP19_ENST00000398898.2_Silent_p.L1273L|USP19_ENST00000434032.2_Silent_p.L1334L NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 1233 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCAGGGCCTAGGTCTGGGTGG 0.622000 37 10 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29102112 29102112 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr18:29102112C>T ENST00000261590.8 + 6 799 c.590C>T c.(589-591)tCc>tTc p.S197F DSG2_ENST00000585206.1_Missense_Mutation_p.S197F NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 197 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) TCGAAAATTTCCTATAGAATC 0.378000 16 12 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92731648 92731648 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:92731648G>A ENST00000379958.2 - 3 4032 c.3763C>T c.(3763-3765)Cct>Tct p.P1255S NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1255 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GTTAAATAAGGAATATAGTTT 0.289000 21 36 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238280832 238280832 + Missense_Mutation SNP G G T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:238280832G>T ENST00000295550.4 - 9 4280 c.3828C>A c.(3826-3828)ttC>ttA p.F1276L COL6A3_ENST00000392004.3_Missense_Mutation_p.F1070L|COL6A3_ENST00000472056.1_Missense_Mutation_p.F669L|COL6A3_ENST00000409809.1_Missense_Mutation_p.F1070L|COL6A3_ENST00000347401.3_Missense_Mutation_p.F1075L|COL6A3_ENST00000392003.2_Missense_Mutation_p.F869L|COL6A3_ENST00000353578.4_Missense_Mutation_p.F1070L|COL6A3_ENST00000346358.4_Missense_Mutation_p.F1076L NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1276 Nonhelical region.|VWFA 7. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGTCATCGCTGAACTGGATGA 0.617000 11 18 3.86212e-05 3.91241e-05 1 1 0 TMEM132B 114795 broad.mit.edu 37 12 125834785 125834785 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:125834785G>A ENST00000299308.3 + 2 848 c.840G>A c.(838-840)gaG>gaA p.E280E NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 280 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GCTTGGACGAGAATGTGGTCA 0.562000 53 90 0 0 1 0 0 IFT172 26160 broad.mit.edu 37 2 27706215 27706215 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:27706215G>A ENST00000260570.3 - 7 614 c.511C>T c.(511-513)Cat>Tat p.H171Y IFT172_ENST00000416524.2_Missense_Mutation_p.H150Y|IFT172_ENST00000359466.6_Missense_Mutation_p.H171Y NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 171 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) CCATCTGCATGACCAGAGAGA 0.423000 14 21 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41450722 41450722 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr21:41450722G>A ENST00000400454.1 - 26 5080 c.4603C>T c.(4603-4605)Ctg>Ttg p.L1535L NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1535 Fibronectin type-III 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AGGTCATACAGGATGTAGGAC 0.582000 9 8 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 70853245 70853245 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:70853245G>A ENST00000333538.5 + 3 1081 c.447G>A c.(445-447)aaG>aaA p.K149K WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 149 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) AGTACTCCAAGGACCTGCCCC 0.537000 16 20 0 0 1 0 0 ABHD4 63874 broad.mit.edu 37 14 23072966 23072966 + Nonsense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr14:23072966C>T ENST00000428304.2 + 4 692 c.622C>T c.(622-624)Cga>Tga p.R208* ABHD4_ENST00000544562.1_3'UTR NM_022060.2 NP_071343.2 Q8TB40 ABHD4_HUMAN abhydrolase domain containing 4 208 lipid catabolic process hydrolase activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1) 14 all_cancers(95;5.49e-05) GBM - Glioblastoma multiforme(265;0.0153) GGCTGTTCTTCGAGTAGCTGG 0.532000 23 24 0 0 1 0 0 COL16A1 1307 broad.mit.edu 37 1 32130825 32130825 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:32130825C>T ENST00000373672.3 - 56 4019 c.3503G>A c.(3502-3504)gGa>gAa p.G1168E COL16A1_ENST00000271069.6_Missense_Mutation_p.G1168E NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 1168 Triple-helical region 2 (COL2) with 2 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GCCTGGGAATCCAGGGGGACC 0.567000 30 12 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74043654 74043654 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:74043654C>T ENST00000409561.1 + 3 2425 c.2304C>T c.(2302-2304)tcC>tcT p.S768S NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 768 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TCAATCCATCCCGACCAGCTC 0.557000 13 29 0 0 1 0 0 SLFN11 91607 broad.mit.edu 37 17 33690141 33690141 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:33690141C>T ENST00000394566.1 - 4 958 c.686G>A c.(685-687)aGg>aAg p.R229K SLFN11_ENST00000308377.4_Missense_Mutation_p.R229K NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 229 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGGAATTGTCCTTTTTACATA 0.388000 31 43 0 0 1 0 0 CYP3A4 1576 broad.mit.edu 37 7 99375663 99375663 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:99375663C>T ENST00000336411.2 - 3 389 c.206G>A c.(205-207)gGa>gAa p.G69E CYP3A4_ENST00000354593.2_Intron NM_001202855.2|NM_017460.5 NP_001189784.1|NP_059488.2 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 69 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) CCACACTTTTCCATACTTTTT 0.388000 19 36 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4907322 4907322 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:4907322C>T ENST00000320785.5 + 11 1251 c.894C>T c.(892-894)atC>atT p.I298I NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 298 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 CGGATTTTATCCCCTACAGGG 0.522000 33 63 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215809759 215809759 + Missense_Mutation SNP G G T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:215809759G>T ENST00000272895.7 - 49 7528 c.7309C>A c.(7309-7311)Cag>Aag p.Q2437K AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.Q2119K NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2437 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CATTTGTTCTGTACTTCTTCT 0.418000 5 16 1.23904e-05 1.26174e-05 1 1 0 BRAF 673 broad.mit.edu 37 7 140434523 140434523 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:140434523G>A ENST00000288602.6 - 18 2235 c.2175C>T c.(2173-2175)caC>caT p.H725H NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 725 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) ATGCACTGCGGTGAATTTTTG 0.398000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 54 82 0 0 1 0 0 DPYSL5 56896 broad.mit.edu 37 2 27169838 27169838 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:27169838G>A ENST00000288699.6 + 13 1828 c.1670G>A c.(1669-1671)gGa>gAa p.G557E DPYSL5_ENST00000401478.1_Missense_Mutation_p.G557E NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 557 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTCCTCCCGGAGGCAGGTCG 0.627000 11 10 0 0 1 0 0 HCAR2 338442 broad.mit.edu 37 12 123187584 123187584 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:123187584G>A ENST00000328880.5 - 1 306 c.247C>T c.(247-249)Ctg>Ttg p.L83L HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 83 negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Mepenzolate(DB04843)|Niacin(DB00627) TTGTCCATCAGGAAGGGCAGG 0.522000 16 33 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155566166 155566166 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:155566166G>A ENST00000295101.2 + 2 1231 c.754G>A c.(754-756)Gat>Aat p.D252N KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_Intron NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 252 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) ACTTGAACTGGATGTAGGTTT 0.463000 23 40 0 0 1 0 0 IFNA16 3449 broad.mit.edu 37 9 21216873 21216873 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:21216873C>T ENST00000380216.1 - 1 437 c.432G>A c.(430-432)agG>agA p.R144R NM_002173.2 NP_002164.1 P05015 IFN16_HUMAN interferon, alpha 16 144 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) GAAAGTATTTCCTCACAGCCA 0.458000 68 43 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121651007 121651007 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:121651007C>T ENST00000393386.2 + 12 2318 c.1907C>T c.(1906-1908)tCa>tTa p.S636L PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S636L NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 636 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 GATTCAACTTCATCAGGTTCA 0.418000 16 18 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 108035942 108035942 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:108035942C>T ENST00000280758.5 + 14 3444 c.2916C>T c.(2914-2916)atC>atT p.I972I BTBD11_ENST00000490090.2_Silent_p.I972I|BTBD11_ENST00000420571.2_Silent_p.I853I|BTBD11_ENST00000357167.4_Silent_p.I509I|BTBD11_ENST00000494235.2_Silent_p.I51I NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 972 BTB. integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 AATACTCCATCTTTCAGGTGA 0.517000 25 29 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52336291 52336291 + Splice_Site SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:52336291C>T ENST00000356297.4 - 14 1739 c.1638_splice c.e14-1 p.E547_splice PXDNL_ENST00000543296.1_Splice_Site_p.E547_splice NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 547 Ig-like C2-type 4. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGCACACCTTCCTAGGGAGCA 0.398000 8 10 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20493232 20493232 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:20493232G>A ENST00000202677.6 - 32 4923 c.4781C>T c.(4780-4782)cCa>cTa p.P1594L NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1594 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GGGCTCCACTGGGGAGGGCTG 0.473000 6 17 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167420120 167420120 + Nonsense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr5:167420120G>A ENST00000519204.1 + 4 874 c.756G>A c.(754-756)tgG>tgA p.W252* TENM2_ENST00000520394.1_Nonsense_Mutation_p.W182*|TENM2_ENST00000403607.2_Nonsense_Mutation_p.W206*|TENM2_ENST00000545108.1_Nonsense_Mutation_p.W373*|TENM2_ENST00000518659.1_Nonsense_Mutation_p.W373* teneurin transmembrane protein 2 ACTGCAGCTGGAAATGTGCTG 0.567000 22 9 0 0 1 0 0 CLCA1 1179 broad.mit.edu 37 1 86934746 86934746 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:86934746G>A ENST00000234701.3 + 2 443 c.92G>A c.(91-93)gGc>gAc p.G31D CLCA1_ENST00000394711.1_Missense_Mutation_p.G31D A8K7I4 CLCA1_HUMAN chloride channel accessory 1 31 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) AACAACAATGGCTATGAAGGC 0.398000 22 14 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117622181 117622181 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:117622181C>T ENST00000368508.3 - 42 6887 c.6689G>A c.(6688-6690)aGa>aAa p.R2230K ROS1_ENST00000368507.3_Missense_Mutation_p.R2224K NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 2230 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TGCTTCATCTCTGGACTTATA 0.363000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 18 13 0 0 1 0 0 SARS2 54938 broad.mit.edu 37 19 39406325 39406325 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:39406325G>A ENST00000221431.6 - 16 1637 c.1478C>T c.(1477-1479)cCt>cTt p.P493L SARS2_ENST00000430193.3_Missense_Mutation_p.P493L|SARS2_ENST00000600042.1_Missense_Mutation_p.P495L|SARS2_ENST00000448145.2_Missense_Mutation_p.P493L|CTC-360G5.8_ENST00000599996.1_Silent_p.P562P|SARS2_ENST00000598831.1_Missense_Mutation_p.P141L|SARS2_ENST00000594171.1_Missense_Mutation_p.P303L NM_017827.3 NP_060297.1 Q9NP81 SYSM_HUMAN seryl-tRNA synthetase 2, mitochondrial 493 seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CACGTGGGTAGGGGCTGTGAT 0.652000 23 33 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44061091 44061091 + Silent SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:44061091C>T ENST00000344290.5 + 6 1243 c.921C>T c.(919-921)atC>atT p.I307I MAPT_ENST00000574436.1_Intron|MAPT_ENST00000571987.1_Silent_p.I307I|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Silent_p.I307I|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Silent_p.I307I|MAPT_ENST00000576518.1_Intron NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 307 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) ACGTGGAAATCACACCCAACG 0.647000 17 26 0 0 1 0 0 FUT2 2524 broad.mit.edu 37 19 49206277 49206277 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:49206277G>A ENST00000425340.2 + 2 181 c.64G>A c.(64-66)Gtt>Att p.V22I FUT2_ENST00000391876.4_Missense_Mutation_p.V22I NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) 22 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) TGTCTTTACGGTTTCCACTAT 0.517000 52 98 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814028 137814028 + Nonsense_Mutation SNP G G T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:137814028G>T ENST00000409968.1 + 3 356 c.178G>T c.(178-180)Gga>Tga p.G60* THSD7B_ENST00000272643.3_Nonsense_Mutation_p.G60*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.G29* thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TGGTCCCGGAGGAGTCCAGAG 0.493000 13 22 3.45872e-05 3.5129e-05 1 1 0 SLC9C1 285335 broad.mit.edu 37 3 111899464 111899464 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:111899464C>T ENST00000305815.5 - 22 2947 c.2695G>A c.(2695-2697)Gaa>Aaa p.E899K SLC9C1_ENST00000487372.1_Missense_Mutation_p.E851K NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 899 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity TCACCTTCTTCAAATATATCA 0.323000 17 21 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152328577 152328577 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:152328577C>T ENST00000388718.5 - 3 1757 c.1685G>A c.(1684-1686)aGa>aAa p.R562K FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 562 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGATGTCTCTCTAGACCCATA 0.498000 78 133 0 0 1 0 0 MOG 4340 broad.mit.edu 37 6 29637969 29637969 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:29637969G>A ENST00000494692.1 + 6 611 c.611G>A c.(610-612)gGa>gAa p.G204E MOG_ENST00000533330.2_Intron|MOG_ENST00000490427.1_Missense_Mutation_p.G88E|MOG_ENST00000376917.3_Intron|MOG_ENST00000431798.2_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000376891.4_Intron|MOG_ENST00000376894.4_Intron|MOG_ENST00000396701.2_Intron|MOG_ENST00000396704.3_Missense_Mutation_p.G204E|MOG_ENST00000376888.2_Intron|MOG_ENST00000376898.3_Intron|MOG_ENST00000416766.2_Intron|MOG_ENST00000376902.3_Intron NM_001008228.2|NM_206811.3 NP_001008229.1|NP_996534.2 Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 219 cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 GGTGTTCTAGGACCCCAGGTT 0.433000 11 47 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120832525 120832525 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr10:120832525G>A ENST00000369144.3 - 4 545 c.418C>T c.(418-420)Cgt>Tgt p.R140C EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.R106C NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 140 formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) CTGTCAGTACGATCCTGAGTG 0.388000 13 10 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9061307 9061307 + Silent SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:9061307G>A ENST00000397910.4 - 3 26342 c.26139C>T c.(26137-26139)atC>atT p.I8713I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8715 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.I8713I(2)|p.I4346I(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGAGGTACTGATCTCCCTTA 0.493000 12 19 0 0 1 0 0 NSMAF 8439 broad.mit.edu 37 8 59514003 59514003 + Splice_Site SNP C C G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:59514003C>G ENST00000038176.3 - 15 1429 c.e15+1 NSMAF_ENST00000427130.2_Splice_Site|NSMAF_ENST00000519858.1_Splice_Site NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) AAGAATCTTACCAATCCTAAC 0.388000 13 19 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51411609 51411609 + Missense_Mutation SNP G G A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:51411609G>A ENST00000319760.6 - 1 839 c.787C>T c.(787-789)Cct>Tct p.P263S NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) TTATCAGTAGGAAAGTTTGAA 0.383000 6 24 0 0 1 0 0 DNMT3L 29947 broad.mit.edu 37 21 45670725 45670725 + Nonsense_Mutation SNP C C A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr21:45670725C>A ENST00000270172.3 - 10 1360 c.877G>T c.(877-879)Gaa>Taa p.E293* DNMT3L_ENST00000418993.1_Nonsense_Mutation_p.E293*|AP001059.5_ENST00000442785.1_RNA NM_013369.3 NP_037501.2 Q9UJW3 DNM3L_HUMAN DNA (cytosine-5-)-methyltransferase 3-like 293 DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 11 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) TCCAGGTCTTCCTTGTTCAGC 0.642000 27 70 4.72057e-08 4.83238e-08 1 1 0 DOPEY2 9980 broad.mit.edu 37 21 37603385 37603385 + Missense_Mutation SNP C C T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr21:37603385C>T ENST00000399151.3 + 14 2388 c.2303C>T c.(2302-2304)tCc>tTc p.S768F NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 768 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GTCTACCTGTCCGAGGAAGAG 0.612000 18 50 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112151249 112151252 + Frame_Shift_Del DEL CACT CACT - rs143341972 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr5:112151249_112151252delCACT ENST00000457016.1 + 9 1272_1275 c.892_895delCACT c.(892-897)ctfs p.HS298fs APC_ENST00000257430.4_Frame_Shift_Del_p.HS298fs|APC_ENST00000508376.2_Frame_Shift_Del_p.HS298fs P25054 APC_HUMAN adenomatous polyposis coli 298 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.H298fs*28(1)|p.S299fs*27(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TAGTAGCACACACTCTGCACCTCG 0.407 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 14 9 --- --- --- --- OR12D2 26529 broad.mit.edu 37 6 29364925 29364926 + Frame_Shift_Ins INS - - T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:29364925_29364926insT ENST00000383555.2 + 1 510_511 c.449_450insT c.(448-450)gttfs p.V150fs OR5V1_ENST00000377154.1_Intron NM_013936.3 NP_039224.2 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 TGGGTCATTGGTTTTTTCCATG 0.470 61 52 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396277 + RNA DEL G G - rs148140777 by1000genomes TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr10:118396277delG ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTT 0.423 3 5 --- --- --- --- KCNJ15 3772 broad.mit.edu 37 21 39672237 39672239 + In_Frame_Del DEL GAG GAG - TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr21:39672237_39672239delGAG ENST00000398930.1 + 4 1408_1410 c.1054_1056delGAG c.(1054-1056)del p.E353del KCNJ15_ENST00000398934.1_In_Frame_Del_p.E353del|KCNJ15_ENST00000398932.1_In_Frame_Del_p.E353del|KCNJ15_ENST00000328656.3_In_Frame_Del_p.E353del|KCNJ15_ENST00000398938.2_In_Frame_Del_p.E353del Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 353 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 ACAGCAACTCGAGGAGAAGTACA 0.443 25 29 --- --- --- ---