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 CPA4 51200 broad.mit.edu 37 7 129962465 129962465 + Silent SNP G G A TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr7:129962465G>A ENST00000222482.4 + 11 1243 c.1215G>A c.(1213-1215)acG>acA p.T405T CPA4_ENST00000445470.2_Silent_p.T372T|CPA4_ENST00000493259.1_Silent_p.T301T NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 405 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) CAGAGGAGACGTGGCTGGGGC 0.522000 28 57 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 3 16 0 0 1 0 0 ACVRL1 94 broad.mit.edu 37 12 52312898 52312898 + Splice_Site SNP C C T TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr12:52312898C>T ENST00000550683.1 + 8 1519 c.1419_splice c.e8+1 p.P473_splice ACVRL1_ENST00000419526.2_Splice_Site_p.P285_splice|ACVRL1_ENST00000388922.4_Splice_Site_p.P459_splice NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 459 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) GCTGCAGACCCGGTGAGGCCT 0.587000 14 42 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152826170 152826170 + Missense_Mutation SNP C C T TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chrX:152826170C>T ENST00000370186.1 + 17 3160 c.2834C>T c.(2833-2835)gCg>gTg p.A945V ATP2B3_ENST00000349466.2_Missense_Mutation_p.A959V|ATP2B3_ENST00000263519.4_Missense_Mutation_p.A959V|ATP2B3_ENST00000393842.1_Missense_Mutation_p.A945V|ATP2B3_ENST00000370181.2_Missense_Mutation_p.A945V|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000359149.3_Missense_Mutation_p.A959V Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 959 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding p.A959V(6)|p.A945V(2) NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGAGGAATGCGCCCCTGCAC 0.562000 3 35 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr22:22664115A>T ENST00000426066.1 + 0 638 NR_027293.1 TGTTTAATTCAGCCTTGGAAG 0.413000 3 48 0 0 1 0 0 SLC25A25 114789 broad.mit.edu 37 9 130868474 130868474 + Missense_Mutation SNP G G A TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr9:130868474G>A ENST00000373066.5 + 8 1347 c.940G>A c.(940-942)Gag>Aag p.E314K SLC25A25_ENST00000432073.2_Missense_Mutation_p.E302K|SLC25A25_ENST00000373068.2_Missense_Mutation_p.E316K|SLC25A25_ENST00000433501.1_Missense_Mutation_p.E179K|SLC25A25_ENST00000373069.5_Missense_Mutation_p.E328K|SLC25A25_ENST00000373064.5_Missense_Mutation_p.E282K NM_001265614.2 NP_001252543.1 Q6KCM7 SCMC2_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 282 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3) 10 GAGGATTCACGAGAGGCTTGT 0.602000 12 114 0 0 1 0 0 KRT27 342574 broad.mit.edu 37 17 38935957 38935957 + Missense_Mutation SNP C C T TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr17:38935957C>T ENST00000301656.3 - 4 881 c.841G>A c.(841-843)Gaa>Aaa p.E281K NM_181537.3 NP_853515.2 Q7Z3Y8 K1C27_HUMAN keratin 27 281 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) TTTACCTTTTCGTTGAACCAG 0.657000 7 22 0 0 1 0 0 POM121C 100101267 broad.mit.edu 37 7 75070281 75070281 + Missense_Mutation SNP C C A TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr7:75070281C>A ENST00000453279.2 - 5 1042 c.178G>T c.(178-180)Gtg>Ttg p.V60L POM121C_ENST00000257665.5_Missense_Mutation_p.V302L NM_001099415.1 NP_001092885.1 A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 302 Required for targeting to the nucleus and nuclear pore complex. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 TCTTCCTCCACTGTCCTTTTC 0.473000 36 162 1.67211e-32 1.86883e-32 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 4 122 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46888241 46888241 + Silent SNP C C T TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr21:46888241C>T ENST00000359759.4 + 2 1458 c.1437C>T c.(1435-1437)gtC>gtT p.V479V COL18A1_ENST00000355480.5_Silent_p.V244V|COL18A1_ENST00000400337.2_Silent_p.V64V P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 479 TSP N-terminal. cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) ACCCCGACGTCGGGCTGGCCT 0.627000 19 48 0 0 1 0 0 ABCA5 23461 broad.mit.edu 37 17 67246065 67246065 + Silent SNP A A G TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr17:67246065A>G ENST00000392676.3 - 37 4810 c.4746T>C c.(4744-4746)tcT>tcC p.S1582S ABCA5_ENST00000392677.2_Silent_p.S1583S|ABCA5_ENST00000588877.1_Silent_p.S1582S Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 1582 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) GCTTAAAAAAAGATTGTGAAA 0.284000 9 33 0 0 1 0 0 DMP1 1758 broad.mit.edu 37 4 88583764 88583764 + Missense_Mutation SNP C C G TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr4:88583764C>G ENST00000339673.6 + 6 933 c.834C>G c.(832-834)gaC>gaG p.D278E DMP1_ENST00000282479.7_Missense_Mutation_p.D262E|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 278 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) AGGAAGATGACAGAAGCGAGC 0.478000 8 14 0 0 1 0 0 CRTC1 23373 broad.mit.edu 37 19 18870928 18870928 + Missense_Mutation SNP C C T TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr19:18870928C>T ENST00000338797.6 + 9 849 c.824C>T c.(823-825)cCg>cTg p.P275L CRTC1_ENST00000594658.1_Missense_Mutation_p.P218L|CRTC1_ENST00000601916.1_Missense_Mutation_p.P184L|CRTC1_ENST00000321949.8_Missense_Mutation_p.P259L NM_001098482.1 NP_001091952.1 Q6UUV9 CRTC1_HUMAN CREB regulated transcription coactivator 1 259 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 TCCCCGCTCCCGACCCCGCTG 0.682000 15 38 0 0 1 0 0 ADCK5 203054 broad.mit.edu 37 8 145616370 145616370 + Missense_Mutation SNP C C A TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr8:145616370C>A ENST00000308860.6 + 6 624 c.580C>A c.(580-582)Ccc>Acc p.P194T ADCK5_ENST00000526231.2_3'UTR NM_174922.3 NP_777582.3 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 194 Protein kinase. integral to membrane protein serine/threonine kinase activity endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CCAGGCCCTCCCCCACGAGCT 0.637000 4 29 0.00909568 0.009601 1 1 0 GRHL1 29841 broad.mit.edu 37 2 10136062 10136062 + Missense_Mutation SNP T T G TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr2:10136062T>G ENST00000324907.9 + 13 1691 c.1555T>G c.(1555-1557)Tct>Gct p.S519A GRHL1_ENST00000480736.1_5'UTR|GRHL1_ENST00000324883.5_Missense_Mutation_p.S330A|GRHL1_ENST00000405379.2_Missense_Mutation_p.S519A NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 519 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) TGTCCCTCCTTCTACCAAGCT 0.448000 43 141 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128481309 128481309 + Silent SNP G G A TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr7:128481309G>A ENST00000325888.8 + 12 2160 c.1899G>A c.(1897-1899)acG>acA p.T633T FLNC_ENST00000346177.6_Silent_p.T633T NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 633 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 ACTGGCCCACGGAGCCTGGGG 0.622000 5 149 0 0 1 0 0 MSLN 10232 broad.mit.edu 37 16 814693 814693 + Missense_Mutation SNP A A G TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr16:814693A>G ENST00000566549.1 + 6 764 c.347A>G c.(346-348)gAc>gGc p.D116G MSLN_ENST00000382862.3_Missense_Mutation_p.D116G|MSLN_ENST00000563941.1_Missense_Mutation_p.D116G|MSLN_ENST00000545450.2_Missense_Mutation_p.D116G Q13421 MSLN_HUMAN mesothelin 116 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) GAGGACCTGGACGCCCTCCCA 0.682000 41 131 0 0 1 0 0 KCNK16 83795 broad.mit.edu 37 6 39282878 39282878 + Missense_Mutation SNP G G A TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr6:39282878G>A ENST00000373229.5 - 6 843 c.830C>T c.(829-831)gCg>gTg p.A277V KCNK16_ENST00000425054.2_3'UTR|KCNK16_ENST00000507712.1_Missense_Mutation_p.A165V|KCNK16_ENST00000373227.4_Missense_Mutation_p.A230V NM_032115.3 NP_115491.1 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 277 integral to membrane potassium channel activity|voltage-gated ion channel activity large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2) 13 GCCTGGAGCCGCCTTGGCTCC 0.572000 4 90 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 7 41 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3094169 3094169 + Splice_Site SNP G G C TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr18:3094169G>C ENST00000356443.4 - 26 4196 c.3864_splice c.e26+1 p.P1288_splice MYOM1_ENST00000400569.3_Splice_Site_p.P1288_splice|MYOM1_ENST00000261606.7_Splice_Site_p.P1192_splice NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 1288 striated muscle myosin thick filament structural constituent of muscle p.P1288R(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AAAACCTACCGGGCCTTCAAA 0.408000 4 53 0 0 1 0 0 SETD6 79918 broad.mit.edu 37 16 58552021 58552021 + Missense_Mutation SNP C C A TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr16:58552021C>A ENST00000394266.4 + 7 708 c.652C>A c.(652-654)Caa>Aaa p.Q218K SETD6_ENST00000418480.1_Intron|SETD6_ENST00000219315.4_Missense_Mutation_p.Q287K|SETD6_ENST00000310682.2_Missense_Mutation_p.Q263K Q8TBK2 SETD6_HUMAN SET domain containing 6 287 SET. negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response nucleus NF-kappaB binding|protein-lysine N-methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 7 CACTTATGGGCAAATGGCTAA 0.463000 4 82 0.150653 0.150653 1 1 0 FAM180A 389558 broad.mit.edu 37 7 135418752 135418752 + Missense_Mutation SNP G G A TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr7:135418752G>A ENST00000338588.3 - 3 758 c.493C>T c.(493-495)Cgc>Tgc p.R165C FAM180A_ENST00000415751.1_Missense_Mutation_p.R165C NM_205855.3 NP_995327.1 Q6UWF9 F180A_HUMAN family with sequence similarity 180, member A 165 extracellular region endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1) 14 TGTGAGGAGCGCATCAAGTCG 0.597000 4 13 0 0 1 0 0 PPP6R1 22870 broad.mit.edu 37 19 55748179 55748179 + Missense_Mutation SNP T T C TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr19:55748179T>C ENST00000412770.2 - 17 2386 c.1820A>G c.(1819-1821)aAc>aGc p.N607S PPP6R1_ENST00000587283.1_Missense_Mutation_p.N607S NM_014931.3 NP_055746.3 Q9UPN7 PP6R1_HUMAN protein phosphatase 6, regulatory subunit 1 607 regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding breast(1) 1 CTCAAGTAGGTTGGCGTTGGG 0.612000 19 44 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90149293 90149293 + Silent SNP G G A TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr5:90149293G>A ENST00000405460.2 + 80 17493 c.17397G>A c.(17395-17397)gaG>gaA p.E5799E GPR98_ENST00000425867.2_Silent_p.E1460E NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5799 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGTTTACAGAGTATAGCAGCC 0.373000 3 17 0 0 1 0 0 FLI1 2313 broad.mit.edu 37 11 128642835 128642835 + Missense_Mutation SNP T T C TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr11:128642835T>C ENST00000344954.6 + 4 833 c.445T>C c.(445-447)Tac>Cac p.Y149H FLI1_ENST00000281428.8_Missense_Mutation_p.Y116H|FLI1_ENST00000525560.1_Intron|FLI1_ENST00000429175.2_Missense_Mutation_p.Y182H|FLI1_ENST00000534087.1_Missense_Mutation_p.Y149H Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor 182 PNT. hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) CACCACCCTCTACAACACGGA 0.532000 T EWSR1 Ewing sarcoma 12 117 0 0 1 0 0 DHX30 22907 broad.mit.edu 37 3 47889821 47889821 + Missense_Mutation SNP G G A TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr3:47889821G>A ENST00000446256.2 + 16 2893 c.2321G>A c.(2320-2322)cGc>cAc p.R774H DHX30_ENST00000457607.1_Missense_Mutation_p.R841H|DHX30_ENST00000445061.1_Missense_Mutation_p.R813H|DHX30_ENST00000348968.4_Missense_Mutation_p.R785H NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 813 Helicase C-terminal. mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GAGATCCTGCGCACACCTCTT 0.657000 17 32 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 7 96 0 0 1 0 0 DPP4 1803 broad.mit.edu 37 2 162865117 162865118 + Frame_Shift_Ins INS - - G TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr2:162865117_162865118insG ENST00000360534.3 - 22 2501_2502 c.1941_1942insC c.(1939-1944)ttagtgfs p.LV647fs DPP4_ENST00000491591.1_5'UTR NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 647 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) ATTCCACACTTGAACACGCCAC 0.465 30 70 --- --- --- --- EPM2AIP1 9852 broad.mit.edu 37 3 37032769 37032769 + Frame_Shift_Del DEL T T - TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr3:37032769delT ENST00000322716.5 - 1 2026 c.1800delA c.(1798-1800)agfs p.R600fs NM_014805.3 NP_055620.1 Q7L775 EPMIP_HUMAN EPM2A (laforin) interacting protein 1 600 endoplasmic reticulum breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2) 27 CATTTCTTTCTCTCACAAGGT 0.388 42 132 --- --- --- --- TNRC18 84629 broad.mit.edu 37 7 5401259 5401259 + Frame_Shift_Del DEL G G - TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr7:5401259delG ENST00000399537.4 - 14 4975 c.4627delC c.(4627-4629)gcfs p.R1543fs TNRC18_ENST00000430969.1_Frame_Shift_Del_p.R1543fs O15417 TNC18_HUMAN trinucleotide repeat containing 18 1543 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CCTCTCTTGCGGGGGGGCGAC 0.692 2 4 --- --- --- --- CTC-513N18.6 0 broad.mit.edu 37 19 20635102 20635102 + RNA DEL T T - TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chr19:20635102delT ENST00000598131.1 + 0 256 CAGGTAGGTGTTTTTTTTGCT 0.418 2 4 --- --- --- --- TXLNG2P 0 broad.mit.edu 37 Y 21758038 21758039 + RNA INS - - A TCGA-V1-A9OA-01A-11D-A41K-08 TCGA-V1-A9OA-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47d4bed8-db46-45d2-8e56-de72205f011d d84f00dc-8c0d-4a2a-99e3-836a59aba5b7 g.chrY:21758038_21758039insA ENST00000253320.4 + 0 3119_3120 Q9BZA5 CY15A_HUMAN haematopoietic_and_lymphoid_tissue(1) 1 CTACTTCTTGGAAAAAAAAAAA 0.376 4 3 --- --- --- ---