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 ASPM 259266 broad.mit.edu 37 1 197061108 197061108 + Nonsense_Mutation SNP G G A TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr1:197061108G>A ENST00000367409.4 - 22 9629 c.9373C>T c.(9373-9375)Caa>Taa p.Q3125* ASPM_ENST00000294732.7_Nonsense_Mutation_p.Q1540*|ASPM_ENST00000367408.1_Nonsense_Mutation_p.Q790* NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 3125 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TAGGCTCTTTGAATTCTAACA 0.363000 20 51 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70034878 70034878 + Missense_Mutation SNP C C T TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr6:70034878C>T ENST00000370598.1 + 21 3750 c.2929C>T c.(2929-2931)Cgg>Tgg p.R977W BAI3_ENST00000238918.8_Missense_Mutation_p.R183W NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 977 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) AATTAGGACACGGCTTATAAG 0.408000 30 71 0 0 1 0 0 IRX1 79192 broad.mit.edu 37 5 3599422 3599422 + Silent SNP C C T TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr5:3599422C>T ENST00000302006.3 + 2 412 c.360C>T c.(358-360)taC>taT p.Y120Y CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 120 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 ATTACCCCTACGGCCAGTTCC 0.657000 4 37 0 0 1 0 0 GALNT6 11226 broad.mit.edu 37 12 51754523 51754523 + Silent SNP G G A rs138065864 TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr12:51754523G>A ENST00000543196.2 - 6 1354 c.1149C>T c.(1147-1149)aaC>aaT p.N383N GALNT6_ENST00000356317.3_Silent_p.N383N Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 383 Catalytic subdomain B. protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.N383N(1) endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 ACATTTCCACGTTCTCCCCTC 0.542000 19 37 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182395293 182395293 + Missense_Mutation SNP T T C TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr2:182395293T>C ENST00000397033.2 + 24 3011 c.2581T>C c.(2581-2583)Tgt>Cgt p.C861R NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 861 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TCAAAGAGTGTGTGCATTAGA 0.383000 23 51 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 3 51 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17283599 17283599 + Missense_Mutation SNP G G A TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr19:17283599G>A ENST00000595618.1 + 13 2119 c.1967G>A c.(1966-1968)cGg>cAg p.R656Q MYO9B_ENST00000594824.1_Missense_Mutation_p.R656Q|MYO9B_ENST00000397274.2_Missense_Mutation_p.R656Q NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 656 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 GACTACATGCGGCCAGACATC 0.667000 18 37 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55653269 55653269 + Missense_Mutation SNP G G A TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr11:55653269G>A ENST00000449290.2 + 2 457 c.365G>A c.(364-366)cGg>cAg p.R122Q NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 122 intracellular zinc ion binding CAGGAGCACCGGAATCACATA 0.483000 15 41 0 0 1 0 0 PTPN23 25930 broad.mit.edu 37 3 47450483 47450483 + Silent SNP C C T rs151244361 TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr3:47450483C>T ENST00000265562.4 + 16 1625 c.1548C>T c.(1546-1548)caC>caT p.H516H PTPN23_ENST00000431726.1_Silent_p.H390H NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 516 cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GTGAGCTGCACCGTGCCATGA 0.642000 9 77 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124765421 124765421 + Missense_Mutation SNP A A G TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr11:124765421A>G ENST00000306534.3 - 6 1453 c.968T>C c.(967-969)gTg>gCg p.V323A ROBO4_ENST00000533054.1_Missense_Mutation_p.V178A NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 323 Fibronectin type-III 1. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) GGATGGTCTCACTTTGAACTC 0.642000 19 63 0 0 1 0 0 ACTB 60 broad.mit.edu 37 7 5568185 5568185 + Missense_Mutation SNP G G A TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr7:5568185G>A ENST00000331789.5 - 4 720 c.529C>T c.(529-531)Cgt>Tgt p.R177C NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 177 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) AGGTCCAGACGCAGGATGGCA 0.647000 5 54 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80041237 80041237 + Silent SNP C C T TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr17:80041237C>T ENST00000306749.2 - 32 5624 c.5406G>A c.(5404-5406)gaG>gaA p.E1802E NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 1802 Enoyl reductase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CAGCACTGCTCTCGTTGAAGA 0.647000 10 14 0 0 1 0 0 DDX1 1653 broad.mit.edu 37 2 15770187 15770187 + Missense_Mutation SNP A A G TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr2:15770187A>G ENST00000381341.2 + 26 2434 c.2045A>G c.(2044-2046)gAt>gGt p.D682G DDX1_ENST00000233084.3_Missense_Mutation_p.D682G Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 682 Necessary for interaction with HNRNPK. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) GTACCAGTGGATGAATTTGAT 0.353000 30 103 0 0 1 0 0 DBH 1621 broad.mit.edu 37 9 136507474 136507474 + Missense_Mutation SNP C C T rs143535251 byFrequency TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr9:136507474C>T ENST00000393056.2 + 3 644 c.632C>T c.(631-633)gCg>gTg p.A211V NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 211 A -> T (in dbSNP:rs5320). hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CCCTCAGACGCGTGCACCATG 0.607000 8 28 0 0 1 0 0 PENK 5179 broad.mit.edu 37 8 57354325 57354325 + Missense_Mutation SNP T T C TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr8:57354325T>C ENST00000314922.3 - 2 386 c.310A>G c.(310-312)Atg>Gtg p.M104V PENK_ENST00000451791.2_Missense_Mutation_p.M104V|PENK_ENST00000523274.1_5'UTR NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 104 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) TACCTTTTCATGAAGCCCCCA 0.493000 4 121 0 0 1 0 0 NANOG 79923 broad.mit.edu 37 12 7947285 7947285 + Missense_Mutation SNP C C A TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr12:7947285C>A ENST00000229307.4 + 4 731 c.512C>A c.(511-513)gCa>gAa p.A171E NANOG_ENST00000526286.1_Intron NM_024865.2 NP_079141.2 Q9H9S0 NANOG_HUMAN Nanog homeobox 171 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Kidney(36;0.0872) AAGGCCTCAGCACCTACCTAC 0.507000 9 11 0.00621372 0.00630786 1 1 0 OR10Q1 219960 broad.mit.edu 37 11 57995989 57995989 + Missense_Mutation SNP G G A TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr11:57995989G>A ENST00000316770.2 - 1 401 c.359C>T c.(358-360)gCg>gTg p.A120V NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) GGCCATGATCGCCAAGAGGAA 0.587000 7 19 0 0 1 0 0 MED23 9439 broad.mit.edu 37 6 131908954 131908954 + Silent SNP A A T TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr6:131908954A>T ENST00000403834.3 - 29 4163 c.3990T>A c.(3988-3990)gcT>gcA p.A1330A MED23_ENST00000545957.1_Silent_p.A965A|MED23_ENST00000368068.3_Silent_p.A1324A|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368060.3_Silent_p.A1324A|MED23_ENST00000368058.1_Silent_p.A1330A|MED23_ENST00000354577.4_Silent_p.A1330A Q9ULK4 MED23_HUMAN mediator complex subunit 23 1324 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) GAAGTTTTAAAGCTGGTTTTA 0.393000 5 10 0 0 1 0 0 OR9I1 219954 broad.mit.edu 37 11 57886182 57886182 + Missense_Mutation SNP G G C TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr11:57886182G>C ENST00000302610.1 - 1 734 c.735C>G c.(733-735)atC>atG p.I245M OR9Q1_ENST00000335397.3_Intron NM_001005211.1 NP_001005211.1 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, member 1 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) CCACAGCAGTGATGTGAGAGG 0.468000 4 48 0 0 1 0 0 HRC 3270 broad.mit.edu 37 19 49657892 49657892 + Silent SNP C C T TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr19:49657892C>T ENST00000252825.4 - 1 789 c.603G>A c.(601-603)gaG>gaA p.E201E HRC_ENST00000595625.1_Silent_p.E201E NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 201 4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic). muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) cctcctcttcctcctcctcct 0.557000 3 46 0 0 1 0 0 SLC6A6 6533 broad.mit.edu 37 3 14518782 14518782 + Missense_Mutation SNP C C T TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr3:14518782C>T ENST00000454876.2 + 11 1608 c.1279C>T c.(1279-1281)Cgt>Tgt p.R427C SLC6A6_ENST00000360861.3_Missense_Mutation_p.R427C P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 427 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity p.R427C(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 GAAGGGTTATCGTCGGGAAAT 0.517000 28 51 0 0 1 0 0 CAPZA1 829 broad.mit.edu 37 1 113212672 113212672 + Missense_Mutation SNP G G A TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr1:113212672G>A ENST00000263168.3 + 10 1451 c.779G>A c.(778-780)cGg>cAg p.R260Q CAPZA1_ENST00000476936.1_3'UTR NM_006135.2 NP_006126.1 P52907 CAZA1_HUMAN capping protein (actin filament) muscle Z-line, alpha 1 260 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly cytosol|extracellular region|F-actin capping protein complex|WASH complex actin binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1) 9 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCCTTGCGCCGGCAGCTTCCA 0.418000 18 49 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 4 102 0 0 1 0 0 PCDHB5 0 broad.mit.edu 37 5 140516147 140516147 + Silent SNP C C T TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr5:140516147C>T ENST00000231134.5 + 1 1348 c.1131C>T c.(1129-1131)aaC>aaT p.N377N NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 377 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding p.N377N(1) 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) CCGGGGACAACGGTAGGATGA 0.483000 15 44 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185951499 185951499 + Missense_Mutation SNP G G A rs144772706 TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr1:185951499G>A ENST00000271588.4 + 18 2997 c.2768G>A c.(2767-2769)cGg>cAg p.R923Q HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.R923Q NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 923 Ig-like C2-type 6. response to stimulus|visual perception basement membrane calcium ion binding p.R923Q(1) 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 CCAGAACGTCGGTGGATTAAG 0.378000 35 73 0 0 1 0 0 ATP2B4 493 broad.mit.edu 37 1 203677049 203677049 + Silent SNP C C T TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr1:203677049C>T ENST00000357681.5 + 10 2497 c.1374C>T c.(1372-1374)aaC>aaT p.N458N ATP2B4_ENST00000367219.3_Silent_p.N446N|ATP2B4_ENST00000341360.2_Silent_p.N458N|ATP2B4_ENST00000391954.2_Silent_p.N458N|ATP2B4_ENST00000367218.3_Silent_p.N458N NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 458 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CCATGGGCAACGCCACCGCCA 0.473000 25 46 0 0 1 0 0 ZNF883 169834 broad.mit.edu 37 9 115759948 115759948 + RNA SNP G G A TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr9:115759948G>A ENST00000427548.1 - 0 1865 P0CG24 ZN883_HUMAN zinc finger protein 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding CTCTGATGTCGGATTAGTGAT 0.413000 5 57 0 0 1 0 0 TRAV9-2 0 broad.mit.edu 37 14 22409639 22409639 + RNA SNP G G A TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr14:22409639G>A ENST00000390441.2 + 0 185 TAAACTGCACGTACACAGCCA 0.488000 3 22 0 0 1 0 0 RP11-383M4.6 0 broad.mit.edu 37 9 84562526 84562526 + RNA SNP G G A TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr9:84562526G>A ENST00000585776.1 - 0 942 SPATA31D3_ENST00000334208.4_RNA TGCATGATCCGGAGACATCTT 0.488000 5 35 0 0 1 0 0 PHAX 51808 broad.mit.edu 37 5 125936738 125936738 + Silent SNP G G A TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr5:125936738G>A ENST00000297540.4 + 1 779 c.84G>A c.(82-84)ccG>ccA p.P28P PHAX_ENST00000514725.1_3'UTR NM_032177.3 NP_115553.2 Q9H814 PHAX_HUMAN phosphorylated adaptor for RNA export 28 Necessary for interaction with CBP80 (By similarity). ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly Cajal body|cytosol RNA binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 8 GCGACAGGCCGCTGCAATTGC 0.677000 4 6 0 0 1 0 0 RNF43 54894 broad.mit.edu 37 17 56439945 56439945 + Nonsense_Mutation SNP G G T TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr17:56439945G>T ENST00000584437.1 - 5 2602 c.647C>A c.(646-648)tCg>tAg p.S216* RNF43_ENST00000500597.2_Nonsense_Mutation_p.S175*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.S216*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.S89*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.S175*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.S216*|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Nonsense_Mutation_p.S89* Q68DV7 RNF43_HUMAN ring finger protein 43 216 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.S216L(2)|p.S216*(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCGCAGCACCGAAGCCAGGAT 0.597000 7 35 1.06961e-07 1.15587e-07 1 1 0 HSPA2 3306 broad.mit.edu 37 14 65009231 65009231 + Missense_Mutation SNP C C T TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr14:65009231C>T ENST00000247207.6 + 1 2046 c.1664C>T c.(1663-1665)aCg>aTg p.T555M HSPA2_ENST00000394709.1_Missense_Mutation_p.T555M NM_021979.3 NP_068814.2 P54652 HSP72_HUMAN heat shock 70kDa protein 2 555 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) ATCAAGCAGACGGTGGAAGAC 0.547000 13 35 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7804931 7804931 + Missense_Mutation SNP G G A TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr1:7804931G>A ENST00000303635.7 + 17 4426 c.4219G>A c.(4219-4221)Gcc>Acc p.A1407T CAMTA1_ENST00000439411.2_Missense_Mutation_p.A1407T NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1407 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CATTATTGAAGCCACACCTGA 0.463000 T WWTR1 epitheliod hemangioendothelioma 14 53 0 0 1 0 0 PIPSL 0 broad.mit.edu 37 10 95720561 95720561 + RNA SNP G G A TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr10:95720561G>A ENST00000480546.1 - 0 736 NR_002319.2 CATTTTTACCGATCTTGGTAA 0.458000 15 34 0 0 1 0 0 CAV1 857 broad.mit.edu 37 7 116198999 116198999 + Splice_Site SNP G G T TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr7:116198999G>T ENST00000341049.2 + 3 473 c.e3-1 CAV1_ENST00000393467.1_Splice_Site|CAV1_ENST00000393468.1_Splice_Site|CAV1_ENST00000405348.1_Splice_Site|CAV1_ENST00000393470.1_Splice_Site NM_001753.4 NP_001744.2 Q03135 CAV1_HUMAN caveolin 1, caveolae protein, 22kDa blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization apical plasma membrane|basolateral plasma membrane|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609) STAD - Stomach adenocarcinoma(10;0.00878) CTTCCTTTTAGATTGACTTTG 0.393000 11 27 0.000673444 0.000694165 1 1 0 POSTN 10631 broad.mit.edu 37 13 38164612 38164612 + Missense_Mutation SNP G G A TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr13:38164612G>A ENST00000379747.4 - 4 455 c.338C>T c.(337-339)aCg>aTg p.T113M POSTN_ENST00000379743.4_Missense_Mutation_p.T113M|POSTN_ENST00000379749.4_Missense_Mutation_p.T113M|POSTN_ENST00000541179.1_Missense_Mutation_p.T113M|POSTN_ENST00000379742.4_Missense_Mutation_p.T113M|POSTN_ENST00000541481.1_Missense_Mutation_p.T113M NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 113 FAS1 1. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) ATAGCGCTGCGTTGTGGTGGC 0.473000 7 24 0 0 1 0 0 LRIG2 9860 broad.mit.edu 37 1 113638882 113638882 + Missense_Mutation SNP C C T TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr1:113638882C>T ENST00000361127.4 + 8 1184 c.986C>T c.(985-987)tCt>tTt p.S329F NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 329 cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) CTGGATGAATCTGCCTTTGTG 0.383000 19 92 0 0 1 0 0 IFNA17 3451 broad.mit.edu 37 9 21228048 21228048 + Missense_Mutation SNP G G C rs141448576 byFrequency TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr9:21228048G>C ENST00000413767.2 - 1 173 c.125C>G c.(124-126)gCa>gGa p.A42G NM_021268.2 NP_067091.1 P01571 IFN17_HUMAN interferon, alpha 17 42 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 breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1) 9 Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) TCCCATTTGTGCCAGGAGTAT 0.517000 19 105 0 0 1 0 0 TNFRSF8 0 broad.mit.edu 37 1 12198401 12198401 + Missense_Mutation SNP C C T TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr1:12198401C>T ENST00000263932.2 + 14 1673 c.1451C>T c.(1450-1452)cCg>cTg p.P484L TNFRSF8_ENST00000417814.2_Missense_Mutation_p.P372L|TNFRSF8_ENST00000479933.2_Intron|TNFRSF8_ENST00000413146.2_Missense_Mutation_p.P21L NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 484 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) GAGAGCCTGCCGCTGCAGGAT 0.662000 7 27 0 0 1 0 0 TRIM56 81844 broad.mit.edu 37 7 100730969 100730969 + Missense_Mutation SNP G G C TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr7:100730969G>C ENST00000306085.6 + 3 673 c.376G>C c.(376-378)Gac>Cac p.D126H NM_030961.1 NP_112223.1 Q9BRZ2 TRI56_HUMAN tripartite motif containing 56 126 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(181;0.136)|all_lung(186;0.182) CTGTGCCGATGACTTGTGCCA 0.716000 7 24 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 5 57 0 0 1 0 0 PADI4 23569 broad.mit.edu 37 1 17668843 17668843 + Missense_Mutation SNP C C T TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr1:17668843C>T ENST00000375448.4 + 8 907 c.881C>T c.(880-882)gCg>gTg p.A294V AC004824.2_ENST00000602074.1_Intron NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 294 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) TTCCGCGTGGCGCCCTGGATC 0.677000 9 34 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150529231 150529231 + Missense_Mutation SNP T T C TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr1:150529231T>C ENST00000271643.4 + 10 1947 c.1711T>C c.(1711-1713)Tcg>Ccg p.S571P ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.S594P|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.S571P|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.S571P NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 571 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GGAGAGTCTGTCGGCTGAAGG 0.652000 25 112 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 33998700 33998700 + Missense_Mutation SNP C C T TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr1:33998700C>T ENST00000373381.4 - 64 10297 c.10121G>A c.(10120-10122)cGc>cAc p.R3374H NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3230 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CTTGCAGGTGCGGTGCTCGGA 0.657000 8 22 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152529086 152529086 + Missense_Mutation SNP A A G TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr2:152529086A>G ENST00000427231.2 - 37 4298 c.4096T>C c.(4096-4098)Tct>Cct p.S1366P NEB_ENST00000409198.1_Missense_Mutation_p.S1366P|NEB_ENST00000397345.3_Missense_Mutation_p.S1366P|NEB_ENST00000172853.10_Missense_Mutation_p.S1366P|NEB_ENST00000604864.1_Missense_Mutation_p.S1366P|NEB_ENST00000603639.1_Missense_Mutation_p.S1366P NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 1366 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TCACGATCAGACTGCAGCTTT 0.478000 29 67 0 0 1 0 0 C17orf66 256957 broad.mit.edu 37 17 34192290 34192290 + Nonsense_Mutation SNP C C T TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr17:34192290C>T ENST00000311880.2 - 3 397 c.249G>A c.(247-249)tgG>tgA p.W83* C17orf66_ENST00000592980.1_Nonsense_Mutation_p.W83*|C17orf66_ENST00000587585.1_5'UTR NM_152781.2 NP_689994.2 A2RTY3 CQ066_HUMAN chromosome 17 open reading frame 66 83 binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4) 38 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) ACAGGTCGTGCCAGTGCGTGT 0.502000 6 23 0 0 1 0 0 SPATS2 65244 broad.mit.edu 37 12 49888746 49888746 + Missense_Mutation SNP G G T TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr12:49888746G>T ENST00000553127.1 + 8 1000 c.487G>T c.(487-489)Gat>Tat p.D163Y SPATS2_ENST00000552918.1_Missense_Mutation_p.D163Y|SPATS2_ENST00000552557.1_3'UTR|SPATS2_ENST00000321898.6_Missense_Mutation_p.D163Y Q86XZ4 SPAS2_HUMAN spermatogenesis associated, serine-rich 2 163 cytoplasm breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4) 21 AGAATTGGAGGATCCCGAGTC 0.438000 8 42 0.000274275 0.000287132 1 1 0 SBF1 6305 broad.mit.edu 37 22 50900074 50900074 + Missense_Mutation SNP G G A TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr22:50900074G>A ENST00000380817.2 - 22 2900 c.2717C>T c.(2716-2718)cCg>cTg p.P906L SBF1_ENST00000390679.3_Missense_Mutation_p.P906L|SBF1_ENST00000348911.6_Missense_Mutation_p.P907L NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 906 GRAM. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) ACGCCCATCCGGCAGCAGGTA 0.682000 3 18 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16003207 16003207 + Missense_Mutation SNP C C T rs61755872 byFrequency TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr19:16003207C>T ENST00000221700.5 - 5 532 c.437G>A c.(436-438)cGc>cAc p.R146H CYP4F2_ENST00000011989.7_5'UTR|CYP4F2_ENST00000592328.1_Missense_Mutation_p.R146H NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 146 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CCGACGGTGGCGGCTCCACTT 0.562000 15 56 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46652736 46652736 + Missense_Mutation SNP C C T rs76372072 byFrequency TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr22:46652736C>T ENST00000253255.5 - 1 6483 c.6484G>A c.(6484-6486)Gtc>Atc p.V2162I NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 2162 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TTGATCAAGACGCAGATCATC 0.438000 14 47 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52525926 52525926 + Missense_Mutation SNP G G A TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr3:52525926G>A ENST00000345716.4 + 21 4077 c.3943G>A c.(3943-3945)Gtc>Atc p.V1315I NISCH_ENST00000479054.1_Missense_Mutation_p.V1315I NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 1315 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CTCTAGTCGCGTCAAGTTTAC 0.597000 3 61 0 0 1 0 0 GRIN2A 0 broad.mit.edu 37 16 10274038 10274038 + Silent SNP G G A TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr16:10274038G>A ENST00000396573.2 - 3 540 c.231C>T c.(229-231)acC>acT p.T77T GRIN2A_ENST00000404927.2_Silent_p.T77T|GRIN2A_ENST00000562109.1_Silent_p.T77T|GRIN2A_ENST00000330684.3_Silent_p.T77T|GRIN2A_ENST00000396575.2_Silent_p.T77T NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 77 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCTTGGGGTCGGTGCGGTTCA 0.667000 33 80 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226447623 226447623 + Missense_Mutation SNP C C A TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr2:226447623C>A ENST00000272907.6 + 4 1903 c.1490C>A c.(1489-1491)gCa>gAa p.A497E NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 497 ACCTACGGGGCAGCCCCGGGT 0.677000 6 34 0.248553 0.248553 1 1 0 SEMA5A 9037 broad.mit.edu 37 5 9122875 9122875 + Silent SNP G G A rs141153482 TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr5:9122875G>A ENST00000382496.5 - 14 2339 c.1674C>T c.(1672-1674)agC>agT p.S558S NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 558 TSP type-1 1. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 ATCCCACGGCGCTGCCATCTG 0.637000 7 65 0 0 1 0 0 CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 5 4 --- --- --- --- SAMD9 54809 broad.mit.edu 37 7 92732960 92732960 + Frame_Shift_Del DEL A A - TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr7:92732960delA ENST00000379958.2 - 3 2720 c.2451delT c.(2449-2451)gcfs p.A817fs NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 817 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) TTTTAGCTATAGCTGTTTGAA 0.368 26 82 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49444975 49444976 + Frame_Shift_Del DEL AT AT - TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr12:49444975_49444976delAT ENST00000301067.7 - 10 2489_2490 c.2490_2491delAT c.(2488-2493)gacafs p.ES830fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GACAGGTGTGATTCCTCAGGTT 0.644 21 68 --- --- --- --- NCOR2 9612 broad.mit.edu 37 12 124957641 124957642 + Frame_Shift_Ins INS - - A TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04ded7a3-d7f2-43a0-9124-6e5a89a0013c 88958ce2-ad68-4691-967e-716477ec338a g.chr12:124957641_124957642insA ENST00000356219.3 - 5 602_603 c.447_448insT c.(445-450)tcccccfs p.SP149fs NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.SP149fs|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.SP149fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.SP149fs|NCOR2_ENST00000405201.1_Frame_Shift_Ins_p.SP149fs NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 149 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGGCTGGGGGGAGACACCGGTT 0.639 17 43 --- --- --- ---