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 DDX4 54514 broad.mit.edu 37 5 55088541 55088541 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr5:55088541G>A ENST00000505374.1 + 17 1467 c.1375G>A c.(1375-1377)Gaa>Aaa p.E459K DDX4_ENST00000514278.2_Missense_Mutation_p.E439K|DDX4_ENST00000354991.5_Missense_Mutation_p.E425K|DDX4_ENST00000511853.1_Missense_Mutation_p.E310K|DDX4_ENST00000353507.5_Missense_Mutation_p.E425K NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 459 Helicase ATP-binding. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) TTTTGGTCCAGAAATGAAGAA 0.378000 16 24 0 0 1 0 0 CACNG3 10368 broad.mit.edu 37 16 24268126 24268126 + Silent SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:24268126C>T ENST00000005284.3 + 1 1253 c.51C>T c.(49-51)gcC>gcT p.A17A NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 17 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) CTGTAGGAGCCTTTGCCGCTT 0.473000 26 1106 0 0 1 0 0 OR52B6 340980 broad.mit.edu 37 11 5602231 5602231 + Missense_Mutation SNP A A C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr11:5602231A>C ENST00000345043.2 + 1 125 c.125A>C c.(124-126)cAa>cCa p.Q42P HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 42 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGCTGGAGCAACTACATATC 0.502000 7 12 0 0 1 0 0 NOD1 10392 broad.mit.edu 37 7 30485764 30485764 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr7:30485764C>G ENST00000222823.4 - 9 2971 c.2446G>C c.(2446-2448)Gag>Cag p.E816Q NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 816 activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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 basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 CACCCAACCTCAGAGATTGAT 0.488000 29 398 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32031962 32031962 + Missense_Mutation SNP A A G rs1808125 by1000genomes TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr3:32031962A>G ENST00000360311.4 + 2 1940 c.1391A>G c.(1390-1392)cAt>cGt p.H464R NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 AAGACCTTCCATCACAATTCA 0.418000 4 110 0 0 1 0 0 CYP3A7 1551 broad.mit.edu 37 7 99308460 99308460 + Nonsense_Mutation SNP A A C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr7:99308460A>C ENST00000336374.2 - 10 923 c.921T>G c.(919-921)taT>taG p.Y307* NM_000765.3 NP_000756.2 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 7 307 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) TCGTGGTTTCATAGCCAGCAA 0.413000 24 40 0 0 1 0 0 IL18R1 8809 broad.mit.edu 37 2 103013325 103013325 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr2:103013325G>A ENST00000409599.1 + 12 1961 c.1605G>A c.(1603-1605)ttG>ttA p.L535L IL18R1_ENST00000233957.1_Silent_p.L535L Q13478 IL18R_HUMAN interleukin 18 receptor 1 535 innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 CGGAAGTCTTGCCTGTTCTTT 0.413000 9 21 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130285707 130285707 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr3:130285707G>A ENST00000358511.6 + 4 1475 c.1444G>A c.(1444-1446)Gac>Aac p.D482N COL6A6_ENST00000453409.2_Missense_Mutation_p.D482N NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 482 Nonhelical region.|VWFA 3. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TCAGTATGCTGACAGCTGGGA 0.478000 27 124 0 0 1 0 0 CAV2 858 broad.mit.edu 37 7 116139888 116139888 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr7:116139888C>G ENST00000222693.4 + 1 445 c.53C>G c.(52-54)tCc>tGc p.S18C CAV2_ENST00000343213.2_Missense_Mutation_p.S18C|CAV2_ENST00000462876.1_Intron|CAV2_ENST00000393480.2_Missense_Mutation_p.S18C NM_001206747.1|NM_001206748.1|NM_001233.4 NP_001193676.1|NP_001193677.1|NP_001224.1 P51636 CAV2_HUMAN caveolin 2 18 caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle D1 dopamine receptor binding|protein homodimerization activity large_intestine(1)|lung(1)|skin(1) 3 all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642) STAD - Stomach adenocarcinoma(10;0.00878) GACGACGACTCCTACAGCCAC 0.682000 2 2 0 0 1 0 0 IFNAR2 3455 broad.mit.edu 37 21 34621017 34621017 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr21:34621017C>G ENST00000404220.3 + 6 727 c.398C>G c.(397-399)tCt>tGt p.S133C AP000295.9_ENST00000433395.2_Missense_Mutation_p.L41V|IFNAR2_ENST00000382264.3_Missense_Mutation_p.S133C|IFNAR2_ENST00000413881.1_Missense_Mutation_p.S61C|IFNAR2_ENST00000342101.3_Missense_Mutation_p.S133C|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S133C|IFNAR2_ENST00000342136.4_Missense_Mutation_p.S133C P48551 INAR2_HUMAN interferon (alpha, beta and omega) receptor 2 133 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 11 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) tGCACAGTGTCTTTTGAACCA 0.373000 17 80 0 0 1 0 0 KIAA0368 23392 broad.mit.edu 37 9 114206748 114206748 + Missense_Mutation SNP A A C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr9:114206748A>C ENST00000259335.4 - 5 713 c.714T>G c.(712-714)aaT>aaG p.N238K KIAA0368_ENST00000338205.5_Missense_Mutation_p.N60K NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 TTATACGTTTATTCAGATGGA 0.388000 9 35 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52632551 52632551 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr15:52632551C>T ENST00000399231.3 - 32 4324 c.4081G>A c.(4081-4083)Gag>Aag p.E1361K MYO5A_ENST00000399233.2_Missense_Mutation_p.E1358K|MYO5A_ENST00000553916.1_Missense_Mutation_p.E1334K|MYO5A_ENST00000358212.6_Missense_Mutation_p.E1361K|MYO5A_ENST00000356338.6_Missense_Mutation_p.E1334K NM_000259.3 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1361 actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) GCCTCATTCTCATGGCTCCTC 0.632000 55 411 0 0 1 0 0 GPAT2 150763 broad.mit.edu 37 2 96698049 96698049 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr2:96698049C>T ENST00000434632.1 - 3 518 c.59G>A c.(58-60)cGa>cAa p.R20Q GPAT2_ENST00000359548.4_Missense_Mutation_p.R20Q|GPAT2_ENST00000453542.1_Missense_Mutation_p.R20Q|GPAT2_ENST00000377137.3_Missense_Mutation_p.R20Q Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, mitochondrial 20 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3) 16 CATTACCTCTCGGCCACTGGG 0.572000 6 44 0 0 1 0 0 BCL2L14 79370 broad.mit.edu 37 12 12232321 12232321 + Missense_Mutation SNP G G A rs142096906 byFrequency TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr12:12232321G>A ENST00000266434.4 + 2 277 c.82G>A c.(82-84)Gcc>Acc p.A28T BCL2L14_ENST00000396369.1_Missense_Mutation_p.A28T|BCL2L14_ENST00000586576.1_Missense_Mutation_p.A61T|BCL2L14_ENST00000308721.5_Missense_Mutation_p.A28T|BCL2L14_ENST00000396367.1_Missense_Mutation_p.A28T|BCL2L14_ENST00000589718.1_Missense_Mutation_p.A28T NM_030766.1 NP_110393.1 Q9BZR8 B2L14_HUMAN BCL2-like 14 (apoptosis facilitator) 28 apoptosis|regulation of apoptosis cytosol|endomembrane system|intracellular organelle|membrane protein binding large_intestine(1)|lung(2)|skin(3) 6 Prostate(47;0.0872) BRCA - Breast invasive adenocarcinoma(232;0.154) CAAAATCCTCGCCTACTACAC 0.488000 22 29 0 0 1 0 0 MTA1 9112 broad.mit.edu 37 14 105936438 105936438 + Missense_Mutation SNP G G C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr14:105936438G>C ENST00000331320.7 + 21 2248 c.2034G>C c.(2032-2034)aaG>aaC p.K678N MTA1_ENST00000435036.2_Missense_Mutation_p.K218N|MTA1_ENST00000406191.1_Missense_Mutation_p.K666N|MTA1_ENST00000405646.1_Missense_Mutation_p.K661N|RP11-521B24.5_ENST00000552675.1_RNA NM_001203258.1|NM_004689.3 NP_001190187.1|NP_004680.2 Q13330 MTA1_HUMAN metastasis associated 1 678 signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1) 14 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) CGGAAACCAAGCGTGCTGCCC 0.716000 21 48 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195512118 195512118 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr3:195512118G>A ENST00000463781.3 - 2 6792 c.6333C>T c.(6331-6333)acC>acT p.T2111T MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2111T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 880 EGF-like 2. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CATGAAGAGCGGTGGCGTGAC 0.572000 3 5 0 0 1 0 0 KIF11 3832 broad.mit.edu 37 10 94405356 94405356 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr10:94405356C>G ENST00000260731.3 + 18 2594 c.2504C>G c.(2503-2505)tCt>tGt p.S835C NM_004523.3 NP_004514.2 P52732 KIF11_HUMAN kinesin family member 11 835 blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CAGTGGGTATCTTCCTTAAAT 0.343000 14 20 0 0 1 0 0 BMP2K 55589 broad.mit.edu 37 4 79832995 79832995 + Silent SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr4:79832995C>T ENST00000335016.5 + 16 3460 c.3294C>T c.(3292-3294)gtC>gtT p.V1098V PAQR3_ENST00000295462.3_Intron NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 1098 nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 ACAATACTGTCCTGCCAGGGC 0.517000 5 46 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123742496 123742496 + Missense_Mutation SNP G G T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr9:123742496G>T ENST00000223642.1 - 28 3552 c.3523C>A c.(3523-3525)Ctg>Atg p.L1175M NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 1175 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) TTTTCAAGCAGAAAGTTGTCA 0.408000 7 50 1.04858e-14 1.15065e-14 1 1 0 AOAH 313 broad.mit.edu 37 7 36657936 36657936 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr7:36657936C>G ENST00000431169.1 - 10 1018 c.718G>C c.(718-720)Gat>Cat p.D240H AOAH_ENST00000535891.1_Missense_Mutation_p.D208H|AOAH_ENST00000258749.5_Missense_Mutation_p.D240H NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 240 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 GGAACTCCATCTTTTGGATCG 0.308000 10 71 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784367 140784367 + Silent SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr5:140784367C>T ENST00000573521.1 + 1 1848 c.1848C>T c.(1846-1848)ctC>ctT p.L616L PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCAGGGCTCTTCTCGGTGG 0.597000 21 20 0 0 1 0 0 GNPNAT1 64841 broad.mit.edu 37 14 53251332 53251332 + Missense_Mutation SNP G G C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr14:53251332G>C ENST00000216410.3 - 2 224 c.37C>G c.(37-39)Cta>Gta p.L13V GNPNAT1_ENST00000554230.1_Intron NM_198066.3 NP_932332.1 Q96EK6 GNA1_HUMAN glucosamine-phosphate N-acetyltransferase 1 13 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|endosome membrane|Golgi membrane glucosamine 6-phosphate N-acetyltransferase activity liver(1)|lung(1)|prostate(1)|skin(1) 4 Breast(41;0.176) TCTTTGAGTAGACTTGGGTCA 0.363000 13 18 0 0 1 0 0 NHLRC1 378884 broad.mit.edu 37 6 18122765 18122765 + Nonsense_Mutation SNP C C A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr6:18122765C>A ENST00000340650.3 - 1 86 c.73G>T c.(73-75)Gag>Tag p.E25* NM_198586.2 NP_940988.2 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 25 proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2) 11 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) ACCTTGCACTCGAGCAGGCTG 0.711000 22 40 9.39395e-14 1.0218e-13 1 1 0 SGSM2 9905 broad.mit.edu 37 17 2279473 2279473 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:2279473G>A ENST00000268989.3 + 19 2704 c.2527G>A c.(2527-2529)Gac>Aac p.D843N SGSM2_ENST00000574563.1_Missense_Mutation_p.D798N|SGSM2_ENST00000426855.2_Missense_Mutation_p.D798N|RP1-59D14.5_ENST00000574290.1_RNA NM_014853.2 NP_055668.2 O43147 SGSM2_HUMAN small G protein signaling modulator 2 798 Rab-GAP TBC. intracellular Rab GTPase activator activity biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) GCACCGCATAGACAAGGATGT 0.607000 15 76 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62230483 62230483 + Missense_Mutation SNP T T G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:62230483T>G ENST00000258991.3 - 10 3067 c.2983A>C c.(2983-2985)Atg>Ctg p.M995L TEX2_ENST00000584379.1_Missense_Mutation_p.M988L|TEX2_ENST00000583097.1_Missense_Mutation_p.M988L|TEX2_ENST00000581812.1_5'UTR Q8IWB9 TEX2_HUMAN testis expressed 2 988 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) ACAAACCTCATAATCTTACTT 0.383000 6 31 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53959137 53959137 + RNA SNP G G T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:53959137G>T ENST00000454407.1 + 0 1829 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) CATCGTAGACGTCATACTGGA 0.393000 4 123 0.184627 0.189205 1 1 0 ADAMTS6 11174 broad.mit.edu 37 5 64756014 64756014 + Missense_Mutation SNP G G C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr5:64756014G>C ENST00000536360.1 - 4 1427 c.614C>G c.(613-615)tCt>tGt p.S205C Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 6 205 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) CCCACAATGAGAGTGATCATA 0.408000 24 29 0 0 1 0 0 PDCD6IP 10015 broad.mit.edu 37 3 33870428 33870428 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr3:33870428G>A ENST00000307296.3 + 7 1178 c.801G>A c.(799-801)caG>caA p.Q267Q PDCD6IP_ENST00000457054.2_Silent_p.Q272Q Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 267 BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 CAAAACAGCAGAAGAAATTTG 0.388000 13 43 0 0 1 0 0 PROX1 5629 broad.mit.edu 37 1 214184960 214184960 + Missense_Mutation SNP A A C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr1:214184960A>C ENST00000366958.4 + 4 2538 c.1930A>C c.(1930-1932)Aac>Cac p.N644H PROX1_ENST00000261454.4_Missense_Mutation_p.N644H|PROX1_ENST00000498508.2_Missense_Mutation_p.N644H|PROX1_ENST00000435016.1_Missense_Mutation_p.N644H NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 644 Prospero-like. aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) TCAAGCCATCAACGATGGGGT 0.443000 64 8 0 0 1 0 0 DNM3 26052 broad.mit.edu 37 1 171890908 171890908 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr1:171890908C>T ENST00000358155.4 + 2 358 c.182C>T c.(181-183)tCg>tTg p.S61L DNM3_ENST00000520906.1_Missense_Mutation_p.S61L|DNM3_ENST00000367731.1_Missense_Mutation_p.S61L|DNM3_ENST00000367733.2_Missense_Mutation_p.S61L|DNM3_ENST00000355305.5_Missense_Mutation_p.S61L NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 61 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CCTCGAGGGTCGGGCATTGTA 0.433000 9 10 0 0 1 0 0 CPT1C 126129 broad.mit.edu 37 19 50216744 50216744 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:50216744G>A ENST00000392518.4 + 20 2666 c.2294G>A c.(2293-2295)gGa>gAa p.G765E CPT1C_ENST00000354199.5_Missense_Mutation_p.G676E|CPT1C_ENST00000405931.2_Missense_Mutation_p.G754E|CPT1C_ENST00000598293.1_Missense_Mutation_p.G765E|CPT1C_ENST00000323446.5_Missense_Mutation_p.G765E NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 765 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) TTCCAGGCGGGACAGCATTTT 0.607000 23 101 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156786153 156786153 + Silent SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr5:156786153C>T ENST00000347377.6 + 24 3245 c.2814C>T c.(2812-2814)agC>agT p.S938S CYFIP2_ENST00000318218.6_Silent_p.S963S|CYFIP2_ENST00000521420.1_Silent_p.S912S|CYFIP2_ENST00000541131.1_Silent_p.S863S|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000522463.1_Silent_p.S742S|CYFIP2_ENST00000377576.3_Silent_p.S938S|CYFIP2_ENST00000435847.2_Silent_p.S637S NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 963 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTGTGAAGAGCTTGGTAAGGA 0.453000 13 10 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48234386 48234386 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:48234386C>T ENST00000394747.1 - 14 2232 c.1883G>A c.(1882-1884)gGa>gAa p.G628E ABCC11_ENST00000356608.2_Missense_Mutation_p.G628E|ABCC11_ENST00000353782.5_Missense_Mutation_p.G628E|ABCC11_ENST00000537808.1_Missense_Mutation_p.G628E|ABCC11_ENST00000394748.1_Missense_Mutation_p.G628E NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 628 ABC transporter 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) GCCCCGCTCTCCAATCTGCAG 0.597000 6 47 0 0 1 0 0 PLD2 5338 broad.mit.edu 37 17 4718857 4718857 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:4718857G>A ENST00000263088.6 + 13 1391 c.1260G>A c.(1258-1260)ctG>ctA p.L420L PLD2_ENST00000572940.1_Silent_p.L420L NM_001243108.1|NM_002663.4 NP_001230037.1|NP_002654.3 O14939 PLD2_HUMAN phospholipase D2 420 cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) AGAGGGCGCTGATGCTGCTGC 0.577000 OREG0024105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 165 0 0 1 0 0 SUZ12P1 440423 broad.mit.edu 37 17 29095921 29095921 + RNA SNP C C G rs78029162 TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:29095921C>G ENST00000582557.1 + 0 1220 TGACCTCAATCAAACAAAACC 0.383000 19 14 0 0 1 0 0 ZNF395 55893 broad.mit.edu 37 8 28210752 28210752 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr8:28210752G>A ENST00000344423.5 - 5 888 c.757C>T c.(757-759)Cat>Tat p.H253Y ZNF395_ENST00000523202.1_Missense_Mutation_p.H253Y|ZNF395_ENST00000523095.1_Missense_Mutation_p.H253Y NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 253 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) TCAAAGCCATGATCAGTTTGG 0.587000 23 21 0 0 1 0 0 SEC23IP 11196 broad.mit.edu 37 10 121663630 121663630 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr10:121663630G>A ENST00000369075.3 + 4 1014 c.942G>A c.(940-942)acG>acA p.T314T SEC23IP_ENST00000543134.1_Silent_p.T103T NM_007190.3 NP_009121.1 Q9Y6Y8 S23IP_HUMAN SEC23 interacting protein 314 Interaction with SEC23A. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) TTCTTGGCACGGATGGAGGGC 0.458000 4 53 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83711918 83711918 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:83711918G>A ENST00000566620.1 + 10 1680 c.1390G>A c.(1390-1392)Gtc>Atc p.V464I CDH13_ENST00000428848.3_Missense_Mutation_p.V425I|CDH13_ENST00000268613.10_Missense_Mutation_p.V511I NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 464 Cadherin 3. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) CACAGCCACCGTCCACATCAC 0.577000 13 69 0 0 1 0 0 DDX4 54514 broad.mit.edu 37 5 55094390 55094390 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr5:55094390C>G ENST00000505374.1 + 18 1698 c.1606C>G c.(1606-1608)Cga>Gga p.R536G DDX4_ENST00000514278.2_Missense_Mutation_p.R516G|DDX4_ENST00000354991.5_Missense_Mutation_p.R502G|DDX4_ENST00000511853.1_Missense_Mutation_p.R387G|DDX4_ENST00000353507.5_Missense_Mutation_p.R502G NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 536 Helicase C-terminal. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) TGAAATTCTGCGAAACATAGG 0.348000 12 18 0 0 1 0 0 SLC8A2 6543 broad.mit.edu 37 19 47935695 47935695 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:47935695C>G ENST00000236877.6 - 9 2513 c.2118G>C c.(2116-2118)gaG>gaC p.E706D SLC8A2_ENST00000539381.1_Missense_Mutation_p.E169D|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_Missense_Mutation_p.E462D NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 706 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding p.E706D(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCTCCTCCTCCTCGTCCCCTG 0.602000 5 144 0 0 1 0 0 RAB12 201475 broad.mit.edu 37 18 8624998 8624998 + Splice_Site SNP T T C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr18:8624998T>C ENST00000329286.6 + 2 570 c.e2+2 NM_001025300.2 NP_001020471.2 Q6IQ22 RAB12_HUMAN RAB12, member RAS oncogene family protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding breast(1)|lung(4)|prostate(1)|urinary_tract(1) 7 ACAGATCTGGTAAGTGGGAGA 0.358000 45 96 0 0 1 0 0 HNRNPDL 9987 broad.mit.edu 37 4 83348369 83348369 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr4:83348369C>T ENST00000295470.5 - 5 1170 c.995G>A c.(994-996)cGa>cAa p.R332Q HNRNPDL_ENST00000349655.4_Missense_Mutation_p.R213Q|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.R332Q|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.R213Q|HNRNPDL_ENST00000514511.1_5'UTR NM_001207000.1|NM_031372.3 NP_001193929.1|NP_112740.1 heterogeneous nuclear ribonucleoprotein D-like CGTACCACCTCGTCCACCAGC 0.438000 66 165 0 0 1 0 0 SLC37A2 219855 broad.mit.edu 37 11 124952197 124952197 + Missense_Mutation SNP C C A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr11:124952197C>A ENST00000403796.2 + 10 1244 c.943C>A c.(943-945)Ctc>Atc p.L315I SLC37A2_ENST00000298280.5_Missense_Mutation_p.L315I|SLC37A2_ENST00000407458.1_Missense_Mutation_p.L315I|SLC37A2_ENST00000308074.4_Missense_Mutation_p.L315I NM_001145290.1 NP_001138762.1 Q8TED4 SPX2_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 2 315 carbohydrate transport|transmembrane transport integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 27 all_hematologic(175;0.215) Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384) TTACACCTTCCTCTACTGGCT 0.587000 30 48 9.45814e-24 1.05659e-23 1 1 0 ZNF208 7757 broad.mit.edu 37 19 22155282 22155282 + Missense_Mutation SNP T T C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:22155282T>C ENST00000397126.4 - 4 2702 c.2554A>G c.(2554-2556)Aag>Gag p.K852E ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TGAATTACCTTATGTTTAGTA 0.373000 3 58 0 0 1 0 0 OR6N2 81442 broad.mit.edu 37 1 158746645 158746645 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr1:158746645G>A ENST00000339258.1 - 1 780 c.781C>T c.(781-783)Cgg>Tgg p.R261W NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) TTCTTTAGCCGCACATACATG 0.433000 12 38 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42876628 42876628 + Nonsense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr13:42876628C>G ENST00000025301.2 + 8 3921 c.3746C>G c.(3745-3747)tCa>tGa p.S1249* NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 1249 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TTAAACCCCTCAGACGAAAAT 0.363000 16 5 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70991613 70991613 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr14:70991613G>A ENST00000256389.3 - 2 256 c.12C>T c.(10-12)ctC>ctT p.L4L RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 0 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) TGTCCTGGTGGAGCTGGACCA 0.522000 67 46 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544867 23544867 + Missense_Mutation SNP T T C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:23544867T>C ENST00000300619.7 - 4 1119 c.914A>G c.(913-915)cAt>cGt p.H305R ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 305 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAATGGCTAAAAGC 0.413000 6 151 0 0 1 0 0 UTS2R 2837 broad.mit.edu 37 17 80333364 80333364 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:80333364G>A ENST00000313135.2 + 1 1212 c.1164G>A c.(1162-1164)ccG>ccA p.P388P NM_018949.1 NP_061822.1 Q9UKP6 UR2R_HUMAN urotensin 2 receptor 388 integral to membrane|plasma membrane breast(1)|endometrium(4)|kidney(1)|lung(2) 8 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833) CCAGGGCCCCGGCGTGAGCAC 0.761000 5 8 0 0 1 0 0 KLHL26 55295 broad.mit.edu 37 19 18778894 18778894 + Silent SNP G G A rs150852328 byFrequency TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:18778894G>A ENST00000300976.4 + 3 777 c.687G>A c.(685-687)gcG>gcA p.A229A KLHL26_ENST00000599006.1_Intron NM_018316.1 NP_060786.1 Q53HC5 KLH26_HUMAN kelch-like family member 26 229 BACK. breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 TGTTCCGCGCGGCCGTCCGCT 0.692000 14 22 0 0 1 0 0 PGAM1 5223 broad.mit.edu 37 10 99190742 99190742 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr10:99190742C>G ENST00000334828.5 + 3 593 c.445C>G c.(445-447)Cag>Gag p.Q149E PGAM1_ENST00000467867.1_3'UTR NM_002629.2 NP_002620.1 P18669 PGAM1_HUMAN phosphoglycerate mutase 1 (brain) 149 gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst cytosol 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1) 6 Colorectal(252;0.162) Epithelial(162;8.36e-10)|all cancers(201;5.62e-08) CACAGAAGATCAGCTACCCTC 0.433000 15 28 0 0 1 0 0 ZNF747 65988 broad.mit.edu 37 16 30545884 30545884 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:30545884G>A ENST00000252799.3 - 1 784 c.117C>T c.(115-117)ttC>ttT p.F39F ZNF747_ENST00000569360.1_Silent_p.F39F|ZNF747_ENST00000535210.1_Silent_p.F39F|ZNF747_ENST00000568028.1_Silent_p.F39F|AC002310.13_ENST00000568114.1_Intron|ZNF747_ENST00000395094.3_Silent_p.F39F NM_023931.2 NP_076420.1 Q9BV97 ZN747_HUMAN zinc finger protein 747 39 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding kidney(1)|lung(3)|prostate(1) 5 CCACGTCGGCGAAGCTCACGG 0.731000 5 10 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78294073 78294073 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr5:78294073C>G ENST00000255189.3 - 16 2461 c.2433G>C c.(2431-2433)aaG>aaC p.K811N NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 811 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) AAGCCAGACTCTTCTGGATGC 0.473000 7 11 0 0 1 0 0 DOC2A 8448 broad.mit.edu 37 16 30018508 30018508 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:30018508C>T ENST00000350119.4 - 6 830 c.640G>A c.(640-642)Gag>Aag p.E214K DOC2A_ENST00000564979.1_Missense_Mutation_p.E214K|DOC2A_ENST00000564944.1_Missense_Mutation_p.E214K NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2 NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2 Q14183 DOC2A_HUMAN double C2-like domains, alpha 214 nervous system development|regulation of calcium ion-dependent exocytosis cell junction|lysosome|synaptic vesicle membrane|synaptosome calcium-dependent phospholipid binding|protein binding|transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2) 9 ACCTGGCGCTCGAGGCAGATG 0.627000 9 229 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10466059 10466059 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr8:10466059C>T ENST00000382483.3 - 4 5772 c.5549G>A c.(5548-5550)gGt>gAt p.G1850D NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1850 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GGCCTCTACACCTTCTGACTC 0.642000 6 197 0 0 1 0 0 SLFN13 146857 broad.mit.edu 37 17 33769022 33769022 + Silent SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:33769022C>T ENST00000285013.6 - 5 1757 c.1482G>A c.(1480-1482)ttG>ttA p.L494L SLFN13_ENST00000526861.1_Silent_p.L494L|SLFN13_ENST00000533791.1_Silent_p.L494L|SLFN13_ENST00000534689.1_Silent_p.L176L|SLFN13_ENST00000542635.1_Silent_p.L494L|SLFN13_ENST00000360502.2_Silent_p.L176L NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 494 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GCTTCTGCTTCAAAGTAAAGG 0.582000 5 67 0 0 1 0 0 ENPP2 5168 broad.mit.edu 37 8 120620168 120620168 + Missense_Mutation SNP C C A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr8:120620168C>A ENST00000427067.2 - 9 995 c.815G>T c.(814-816)tGg>tTg p.W272L ENPP2_ENST00000522826.1_Missense_Mutation_p.W276L|ENPP2_ENST00000259486.6_Missense_Mutation_p.W276L|ENPP2_ENST00000075322.6_Missense_Mutation_p.W276L Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 276 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TTACACAGACCAAAAGAATGT 0.308000 4 26 0.217242 0.220804 1 1 0 PAN2 9924 broad.mit.edu 37 12 56716212 56716212 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr12:56716212C>T ENST00000425394.2 - 19 3080 c.2704G>A c.(2704-2706)Gat>Aat p.D902N PAN2_ENST00000548043.1_Missense_Mutation_p.D902N|PAN2_ENST00000440411.3_Missense_Mutation_p.D898N|PAN2_ENST00000257931.5_Missense_Mutation_p.D901N NM_001127460.2 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 902 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CTAACCTTATCAATAGGTTCA 0.408000 12 42 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48234387 48234387 + Nonsense_Mutation SNP C C A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:48234387C>A ENST00000394747.1 - 14 2231 c.1882G>T c.(1882-1884)Gga>Tga p.G628* ABCC11_ENST00000356608.2_Nonsense_Mutation_p.G628*|ABCC11_ENST00000353782.5_Nonsense_Mutation_p.G628*|ABCC11_ENST00000537808.1_Nonsense_Mutation_p.G628*|ABCC11_ENST00000394748.1_Nonsense_Mutation_p.G628* NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 628 ABC transporter 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) CCCCGCTCTCCAATCTGCAGA 0.592000 6 46 8.12818e-05 8.54148e-05 1 1 0 ICAM5 7087 broad.mit.edu 37 19 10402342 10402342 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:10402342G>A ENST00000221980.4 + 3 593 c.530G>A c.(529-531)cGg>cAg p.R177Q ICAM5_ENST00000586004.1_3'UTR NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 177 Ig-like C2-type 2. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) CCCCGAGCGCGGGGCGCGGTG 0.736000 7 23 0 0 1 0 0 NHLRC1 378884 broad.mit.edu 37 6 18121856 18121856 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr6:18121856C>G ENST00000340650.3 - 1 995 c.982G>C c.(982-984)Gat>Cat p.D328H NM_198586.2 NP_940988.2 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 328 proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2) 11 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) CCCTGGTGATCAAAGGTCACA 0.483000 61 76 0 0 1 0 0 RPAIN 84268 broad.mit.edu 37 17 5331461 5331461 + Missense_Mutation SNP G G T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:5331461G>T ENST00000381209.3 + 6 1130 c.560G>T c.(559-561)tGt>tTt p.C187F RPAIN_ENST00000405578.4_Missense_Mutation_p.C187F|CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000327154.6_Intron|RPAIN_ENST00000574003.1_3'UTR|RPAIN_ENST00000536255.2_Intron|RPAIN_ENST00000381208.5_Intron NM_001033002.3 NP_001028174.2 Q86UA6 RIP_HUMAN RPA interacting protein 187 DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV cytoplasm|nucleolus|PML body metal ion binding|protein complex binding breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1) 6 AGTGCACATTGTCCCCACACA 0.463000 48 53 6.3237e-29 7.19393e-29 1 1 0 LSG1 55341 broad.mit.edu 37 3 194373664 194373664 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr3:194373664C>T ENST00000265245.5 - 8 1281 c.967G>A c.(967-969)Gaa>Aaa p.E323K NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 323 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) CCGTCTTCTTCTGAGCACGTC 0.527000 4 70 0 0 1 0 0 ITGA3 3675 broad.mit.edu 37 17 48155574 48155574 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:48155574G>A ENST00000320031.8 + 18 2553 c.2223G>A c.(2221-2223)tcG>tcA p.S741S ITGA3_ENST00000007722.7_Silent_p.S741S NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 741 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 TCCCAAGGTCGAGTCACCAGG 0.572000 5 87 0 0 1 0 0 TOM1L1 10040 broad.mit.edu 37 17 52993152 52993152 + Silent SNP C C A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:52993152C>A ENST00000575882.1 + 7 1002 c.649C>A c.(649-651)Cga>Aga p.R217R TOM1L1_ENST00000445275.2_Silent_p.R217R|TOM1L1_ENST00000348161.4_Silent_p.R140R|TOM1L1_ENST00000575333.1_Silent_p.R217R|TOM1L1_ENST00000572158.1_Silent_p.R210R|TOM1L1_ENST00000536554.1_Silent_p.R140R|TOM1L1_ENST00000540336.1_Silent_p.R105R|TOM1L1_ENST00000572405.1_Silent_p.R182R|TOM1L1_ENST00000570371.1_Silent_p.R217R NM_005486.2 NP_005477.2 O75674 TM1L1_HUMAN target of myb1 (chicken)-like 1 217 GAT. intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway cytosol|endosome membrane|Golgi stack|lysosome SH3 domain binding|ubiquitin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 15 AATGAATGTGCGAGTGATGTC 0.433000 3 92 0.150653 0.155675 1 1 0 MRC1 4360 broad.mit.edu 37 10 17891674 17891674 + Missense_Mutation SNP G G C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr10:17891674G>C ENST00000331429.2 + 7 1258 c.1155G>C c.(1153-1155)agG>agC p.R385S MRC1L1_ENST00000457317.1_Missense_Mutation_p.R385S breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 AAATCCAGAGGGATGCTCTGA 0.473000 29 42 0 0 1 0 0 NHLRC1 378884 broad.mit.edu 37 6 18122786 18122786 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr6:18122786C>T ENST00000340650.3 - 1 65 c.52G>A c.(52-54)Gag>Aag p.E18K NM_198586.2 NP_940988.2 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 18 proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding p.E18*(1) breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2) 11 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) ATCTCCGCCTCGCGCATGAGC 0.711000 18 33 0 0 1 0 0 ZNF329 79673 broad.mit.edu 37 19 58639722 58639722 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:58639722G>A ENST00000598312.1 - 4 1382 c.1149C>T c.(1147-1149)aaC>aaT p.N383N ZNF329_ENST00000358067.4_Silent_p.N383N NM_024620.3 NP_078896.3 Q86UD4 ZN329_HUMAN zinc finger protein 329 383 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) TGAGGTGAGAGTTTCTGTTGA 0.498000 35 102 0 0 1 0 0 ZNF768 79724 broad.mit.edu 37 16 30536523 30536523 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:30536523C>T ENST00000380412.5 - 2 1113 c.938G>A c.(937-939)gGc>gAc p.G313D ZNF768_ENST00000562803.1_Missense_Mutation_p.G282D NM_024671.3 NP_078947.3 Q9H5H4 ZN768_HUMAN zinc finger protein 768 313 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 GGGCCGCTCGCCAGTGTGGGT 0.607000 14 49 0 0 1 0 0 ACPL2 92370 broad.mit.edu 37 3 141011518 141011518 + Missense_Mutation SNP A A G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr3:141011518A>G ENST00000508812.1 + 5 2794 c.887A>G c.(886-888)aAt>aGt p.N296S RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000286353.4_Missense_Mutation_p.N305S|ACPL2_ENST00000393007.1_Missense_Mutation_p.N289S|ACPL2_ENST00000502783.1_Missense_Mutation_p.N267S|ACPL2_ENST00000504264.1_Missense_Mutation_p.N288S|ACPL2_ENST00000393010.2_Missense_Mutation_p.N305S Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 305 extracellular region acid phosphatase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 TTCTGCCACAATGTCAGCTTT 0.517000 12 79 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47266680 47266680 + Missense_Mutation SNP G G A rs41283554 TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr20:47266680G>A ENST00000396220.1 - 24 2904 c.2882C>T c.(2881-2883)cCg>cTg p.P961L PREX1_ENST00000371941.3_Missense_Mutation_p.P961L Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 961 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCCACACAGCGGGTGGGGCTC 0.592000 33 132 0 0 1 0 0 TSSK1B 83942 broad.mit.edu 37 5 112769745 112769745 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr5:112769745G>A ENST00000390666.3 - 1 983 c.792C>T c.(790-792)gaC>gaT p.D264D MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA NM_032028.3 NP_114417.1 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1B 264 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) TGAGGATCTCGTCGATGTGGA 0.617000 4 32 0 0 1 0 0 EDEM1 9695 broad.mit.edu 37 3 5249807 5249807 + Silent SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr3:5249807C>T ENST00000256497.4 + 8 1501 c.1368C>T c.(1366-1368)atC>atT p.I456I EDEM1_ENST00000445686.1_Silent_p.I261I NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 456 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding p.I456M(1) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) AAGATGCCATCTGCCTTCATG 0.512000 47 93 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57373628 57373628 + Splice_Site SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr1:57373628G>A ENST00000361249.3 + 9 1318 c.e9-1 NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 CTTGATGGCAGAAAGGGCCAG 0.488000 14 38 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644380 53644380 + Silent SNP T T C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:53644380T>C ENST00000452676.2 - 5 2130 c.1704A>G c.(1702-1704)aaA>aaG p.K568K ZNF347_ENST00000334197.7_Silent_p.K567K|ZNF347_ENST00000601469.2_Silent_p.K568K|ZNF347_ENST00000601804.1_Intron NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 567 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) ATTTGTAAGGTTTTTCTCCAG 0.413000 6 250 0 0 1 0 0 CPVL 54504 broad.mit.edu 37 7 29070210 29070210 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr7:29070210C>G ENST00000409850.1 - 16 1949 c.1303G>C c.(1303-1305)Gcg>Ccg p.A435P CPVL_ENST00000396276.3_Missense_Mutation_p.A435P|CPVL_ENST00000265394.5_Missense_Mutation_p.A435P Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like 435 A -> V (in dbSNP:rs7313). proteolysis protein binding|serine-type carboxypeptidase activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 AAGTCACCCGCTTGCCGGATG 0.478000 167 185 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175132 140175132 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr5:140175132G>A ENST00000526136.1 + 1 583 c.583G>A c.(583-585)Gtg>Atg p.V195M PCDHA2_ENST00000378132.1_Missense_Mutation_p.V195M|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V195M NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTGTCTCTCGTGCTGGGGAA 0.463000 24 34 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3794864 3794864 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr11:3794864C>G ENST00000324932.7 - 6 1021 c.601G>C c.(601-603)Gag>Cag p.E201Q NUP98_ENST00000359171.4_Missense_Mutation_p.E201Q|NUP98_ENST00000397004.4_Missense_Mutation_p.E201Q|NUP98_ENST00000355260.3_Missense_Mutation_p.E201Q|NUP98_ENST00000397007.4_Missense_Mutation_p.E201Q NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 201 Gly/Thr-rich. carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TTACTGACCTCTAGTGACTTG 0.343000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 11 8 0 0 1 0 0 OR5A2 219981 broad.mit.edu 37 11 59189895 59189895 + Missense_Mutation SNP A A C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr11:59189895A>C ENST00000302040.4 - 1 554 c.532T>G c.(532-534)Ttt>Gtt p.F178V NM_001001954.1 NP_001001954.1 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, member 2 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 21 TCACAGAAAAAGTGGTTGATC 0.483000 3 65 0 0 1 0 0 SGK1 6446 broad.mit.edu 37 6 134498841 134498841 + Silent SNP G G T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr6:134498841G>T ENST00000528577.1 - 1 202 c.120C>A c.(118-120)acC>acA p.T40T SGK1_ENST00000367858.5_Intron NM_001143677.1 NP_001137149.1 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 302 Necessary for localization to the cytoplasm. apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) TCATTCTTCGGGTTGCCCAAG 0.468000 10 23 0.457914 0.461636 1 1 0 OR6X1 390260 broad.mit.edu 37 11 123624493 123624493 + Missense_Mutation SNP A A G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr11:123624493A>G ENST00000327930.2 - 1 760 c.734T>C c.(733-735)gTt>gCt p.V245A NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 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;0.0279) CAGGGAGACAACTGTCAGGTG 0.453000 13 22 0 0 1 0 0 IRAK2 3656 broad.mit.edu 37 3 10264330 10264330 + Missense_Mutation SNP T T G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr3:10264330T>G ENST00000256458.4 + 9 1114 c.1024T>G c.(1024-1026)Ttg>Gtg p.L342V NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 342 Protein kinase. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 CTCTAATGTCTTGCTGGACCA 0.453000 64 259 0 0 1 0 0 SWI5 375757 broad.mit.edu 37 9 131038427 131038427 + Translation_Start_Site SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr9:131038427G>A ENST00000320188.5 + 1 3 c.3G>A c.(1-3)atG>atA p.M1I SWI5_ENST00000495313.1_Intron NM_001040011.1 NP_001035100.1 Q1ZZU3 SWI5_HUMAN SWI5 recombination repair homolog (yeast) double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding GCGTGGCTATGCAGCGGCGTG 0.627000 45 57 0 0 1 0 0 HOMEZ 57594 broad.mit.edu 37 14 23746018 23746018 + Missense_Mutation SNP G G T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr14:23746018G>T ENST00000357460.5 - 2 583 c.419C>A c.(418-420)tCt>tAt p.S140Y HOMEZ_ENST00000431326.2_Missense_Mutation_p.S142Y|HOMEZ_ENST00000561013.1_Missense_Mutation_p.S142Y NM_020834.2 NP_065885.2 Q8IX15 HOMEZ_HUMAN homeobox and leucine zipper encoding 140 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) ATGAGTAAAAGAGAGAAGGGA 0.537000 34 89 1.58521e-26 1.78696e-26 1 1 0 ENPP2 5168 broad.mit.edu 37 8 120598469 120598469 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr8:120598469C>G ENST00000427067.2 - 15 1492 c.1312G>C c.(1312-1314)Gag>Cag p.E438Q ENPP2_ENST00000522826.1_Missense_Mutation_p.E442Q|ENPP2_ENST00000259486.6_Missense_Mutation_p.E494Q|ENPP2_ENST00000522167.1_Missense_Mutation_p.E81Q|ENPP2_ENST00000075322.6_Missense_Mutation_p.E442Q Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 442 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TGGATATCCTCAATTCTTCTG 0.413000 25 60 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54321158 54321158 + Missense_Mutation SNP C C G rs149832313 byFrequency TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chrX:54321158C>G ENST00000354646.2 - 8 1959 c.1521G>C c.(1519-1521)agG>agC p.R507S WNK3_ENST00000375169.3_Missense_Mutation_p.R507S|WNK3_ENST00000375159.2_Missense_Mutation_p.R507S NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 507 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 ACTGAGAATCCCTGCGTTCTT 0.478000 27 2 0 0 1 0 0 SMOC1 64093 broad.mit.edu 37 14 70418941 70418941 + Silent SNP C C A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr14:70418941C>A ENST00000381280.4 + 2 439 c.186C>A c.(184-186)tcC>tcA p.S62S SMOC1_ENST00000361956.3_Silent_p.S62S|SMOC1_ENST00000555917.1_3'UTR NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 62 Kazal-like. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) ATGGCAGGTCCTACGAGTCCA 0.562000 32 75 9.62906e-15 1.06607e-14 1 1 0 HERC2 8924 broad.mit.edu 37 15 28458889 28458889 + Splice_Site SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr15:28458889G>A ENST00000261609.7 - 42 6893 c.6785C>T c.(6784-6786)cCa>cTa p.P2262L NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2262 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) TTCACCTACTGGTTTCAGCTG 0.478000 14 22 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65941562 65941562 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:65941562G>A ENST00000321892.4 + 23 7177 c.7116G>A c.(7114-7116)caG>caA p.Q2372Q BPTF_ENST00000306378.6_Silent_p.Q2246Q|BPTF_ENST00000424123.3_Silent_p.Q2233Q|BPTF_ENST00000335221.5_Silent_p.Q2372Q Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2372 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TGTCACCCCAGATGCAGGTAC 0.478000 27 58 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262592 45262592 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr5:45262592C>T ENST00000303230.4 - 8 2161 c.2104G>A c.(2104-2106)Gcg>Acg p.A702T NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 702 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CTGCAGACCGCGGTGGTGTAG 0.642000 15 4 0 0 1 0 0 SEC13 6396 broad.mit.edu 37 3 10342968 10342968 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr3:10342968C>G ENST00000383801.2 - 10 1155 c.1084G>C c.(1084-1086)Gag>Cag p.E362Q SEC13_ENST00000350697.3_Missense_Mutation_p.E316Q|SEC13_ENST00000492602.1_Intron|SEC13_ENST00000397117.1_Intron|SEC13_ENST00000337354.4_Missense_Mutation_p.E319Q|SEC13_ENST00000397109.3_Missense_Mutation_p.E302Q NM_001136026.2 NP_001129498.1 P55735 SEC13_HUMAN SEC13 homolog (S. cerevisiae) 316 COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex protein binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 17 TGCTGGCCCTCTGTCACTGAT 0.607000 24 236 0 0 1 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29883848 29883848 + Splice_Site SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:29883848C>G ENST00000308713.5 - 15 3016 c.e15-1 SEZ6L2_ENST00000350527.3_Splice_Site|SEZ6L2_ENST00000537485.1_Splice_Site|SEZ6L2_ENST00000346932.5_Splice_Site NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GTCTGGGTCACTACAGGAGGA 0.657000 15 64 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40049547 40049547 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr20:40049547C>G ENST00000373233.3 - 31 5905 c.5728G>C c.(5728-5730)Gat>Cat p.D1910H NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1910 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TTGGTTTCATCTTGGAAGCCT 0.522000 23 42 0 0 1 0 0 TIGD2 166815 broad.mit.edu 37 4 90034311 90034311 + Silent SNP C C A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr4:90034311C>A ENST00000317005.2 + 1 344 c.186C>A c.(184-186)acC>acA p.T62T NM_145715.2 NP_663761.1 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 62 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 14 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) CAGATCCTACCAGTGGAGTAT 0.368000 3 56 1 1 1 1 0 TGM1 7051 broad.mit.edu 37 14 24731538 24731538 + Silent SNP G G A rs150913268 by1000genomes TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr14:24731538G>A ENST00000206765.6 - 2 144 c.21C>T c.(19-21)tcC>tcT p.S7S TGM1_ENST00000544573.1_5'UTR NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 7 Membrane anchorage region. cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) GGCCCACATCGGAACGTGGCC 0.632000 15 47 0 0 1 0 0 ZNF768 79724 broad.mit.edu 37 16 30537018 30537018 + Missense_Mutation SNP C C A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:30537018C>A ENST00000380412.5 - 2 618 c.443G>T c.(442-444)aGa>aTa p.R148I ZNF768_ENST00000562803.1_Missense_Mutation_p.R117I NM_024671.3 NP_078947.3 Q9H5H4 ZN768_HUMAN zinc finger protein 768 148 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 GGATTCATATCTAGAGCTCTC 0.527000 22 77 8.10497e-08 8.58989e-08 1 1 0 TCOF1 6949 broad.mit.edu 37 5 149755460 149755460 + Missense_Mutation SNP G G C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr5:149755460G>C ENST00000451292.1 + 12 1989 c.1881G>C c.(1879-1881)atG>atC p.M627I TCOF1_ENST00000513346.1_Missense_Mutation_p.M627I|TCOF1_ENST00000323668.7_Missense_Mutation_p.M550I|TCOF1_ENST00000394269.3_Missense_Mutation_p.M627I|TCOF1_ENST00000445265.2_Missense_Mutation_p.M550I|TCOF1_ENST00000439160.2_Missense_Mutation_p.M627I|TCOF1_ENST00000504761.2_Missense_Mutation_p.M627I|TCOF1_ENST00000377797.3_Missense_Mutation_p.M627I Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 627 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGCAGCCATGACTGCAGCTC 0.627000 7 18 0 0 1 0 0 IRS2 8660 broad.mit.edu 37 13 110436504 110436504 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr13:110436504C>T ENST00000375856.3 - 1 2411 c.1897G>A c.(1897-1899)Gga>Aga p.G633R NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 633 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) TCGATGTCTCCGTAGTCCTCT 0.711000 5 5 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810767 7810767 + Missense_Mutation SNP G G A rs146082308 TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:7810767G>A ENST00000315599.7 - 4 407 c.385C>T c.(385-387)Cgg>Tgg p.R129W CD209_ENST00000394161.5_Intron|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.R129W(4) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCCTTCAGCCGGGTCAGCTCC 0.567000 5 292 0 0 1 0 0 FLII 2314 broad.mit.edu 37 17 18155374 18155374 + Silent SNP C C T rs145214604 TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:18155374C>T ENST00000327031.4 - 11 1410 c.1185G>A c.(1183-1185)tcG>tcA p.S395S FLII_ENST00000579294.1_Silent_p.S384S|FLII_ENST00000578558.1_Silent_p.S395S|FLII_ENST00000379450.4_Silent_p.S310S|FLII_ENST00000545457.2_Silent_p.S341S NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 395 Interaction with LRRFIP1 and LRRFIP2. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) GGTTCTGCAGCGAGAAGTCGA 0.652000 43 43 0 0 1 0 0 ZNF768 79724 broad.mit.edu 37 16 30537349 30537349 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:30537349C>T ENST00000380412.5 - 2 287 c.112G>A c.(112-114)Gag>Aag p.E38K ZNF747_ENST00000569360.1_3'UTR|ZNF747_ENST00000535210.1_3'UTR|ZNF768_ENST00000562803.1_Missense_Mutation_p.E7K NM_024671.3 NP_078947.3 Q9H5H4 ZN768_HUMAN zinc finger protein 768 38 Poly-Glu. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 gaaatttcctctTCCTCATTC 0.507000 29 139 0 0 1 0 0 WDR34 89891 broad.mit.edu 37 9 131397988 131397988 + Silent SNP C C A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr9:131397988C>A ENST00000372715.2 - 5 822 c.762G>T c.(760-762)ctG>ctT p.L254L WDR34_ENST00000483181.1_5'UTR NM_052844.3 NP_443076.2 Q96EX3 WDR34_HUMAN WD repeat domain 34 254 cytoplasm central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1) 9 TGCGCCACAGCAGCGGGTCCT 0.692000 3 38 0.00909568 0.00947785 1 1 0 MTMR6 9107 broad.mit.edu 37 13 25840079 25840079 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr13:25840079C>T ENST00000381801.5 - 5 1230 c.469G>A c.(469-471)Gaa>Aaa p.E157K MTMR6_ENST00000540661.1_Missense_Mutation_p.E157K NM_004685.3 NP_004676.3 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 157 Myotubularin phosphatase. cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3) 36 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) GGGTAAGTTTCACAAATCTGT 0.353000 11 17 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578454 7578454 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:7578454G>A ENST00000420246.2 - 5 608 c.476C>T c.(475-477)gCc>gTc p.A159V TP53_ENST00000455263.2_Missense_Mutation_p.A159V|TP53_ENST00000359597.4_Missense_Mutation_p.A159V|TP53_ENST00000269305.4_Missense_Mutation_p.A159V|TP53_ENST00000445888.2_Missense_Mutation_p.A159V|TP53_ENST00000413465.2_Missense_Mutation_p.A159V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 159 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.A159V(33)|p.0?(8)|p.A159D(7)|p.R158fs(6)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158fs*11(1)|p.A66V(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGCCATGGCGCGGACGCG 0.627000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 48 8 0 0 1 0 0 ZNF513 130557 broad.mit.edu 37 2 27600891 27600892 + Frame_Shift_Del DEL TG TG - TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr2:27600891_27600892delTG ENST00000323703.6 - 4 1344_1345 c.1146_1147delCA c.(1144-1149)cacagtfs p.HS382fs ZNF513_ENST00000491924.1_5'UTR|ZNF513_ENST00000407879.1_Frame_Shift_Del_p.HS320fs NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 382 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding p.S383C(1) endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCTCACCACTGTGTGTCTTCA 0.609 57 160 --- --- --- --- PMS2P3 5387 broad.mit.edu 37 7 75145720 75145721 + RNA DEL AT AT - TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr7:75145720_75145721delAT ENST00000418756.1 - 0 618 NR_028059.1 lung(1) 1 TCCTTTGGGGatatatatatat 0.302 2 4 --- --- --- --- FAM157B 100132403 broad.mit.edu 37 9 141107536 141107537 + RNA INS - - GCA TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr9:141107536_141107537insGCA ENST00000446912.2 + 0 19_20 P0CG42 F157B_HUMAN CGgcagcggcggcagcagcagc 0.545 6 6 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546856 11546858 + In_Frame_Del DEL AGA AGA - TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr12:11546856_11546858delAGA ENST00000389362.4 - 3 189_191 c.154_156delTCT c.(154-156)tctdel p.S52del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 p.?(2)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTCCTGGAGGAGATGGGGGACCT 0.557 8 147 --- --- --- --- SLC5A11 115584 broad.mit.edu 37 16 24921737 24921739 + In_Frame_Del DEL CAG CAG - TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:24921737_24921739delCAG ENST00000347898.3 + 15 2383_2385 c.1761_1763delCAG c.(1759-1764)gccagc>gcc p.S592del SLC5A11_ENST00000545376.1_In_Frame_Del_p.S522del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.S436del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.S522del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.S557del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.S528del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.S557del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.S528del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.S436del NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 592 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) TGCCAGAGGCCAGCAGCAGCAGC 0.542 18 826 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29998498 29998500 + In_Frame_Del DEL CTG CTG - TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:29998498_29998500delCTG ENST00000308893.4 + 16 3948_3950 c.2905_2907delCTG c.(2905-2907)ctgdel p.L974del TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del|TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000279394.3_Intron NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 974 Leu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CCTGCCCCTCCTGCTGCTGCTGC 0.709 7 435 --- --- --- --- LOC101927978 101927978 broad.mit.edu 37 16 72763868 72763868 + RNA DEL C C - TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:72763868delC ENST00000563328.2 + 0 164 CGGTCCAAAACAAAAAAAAAA 0.433 2 4 --- --- --- --- AP003900.6 0 broad.mit.edu 37 21 11181291 11181292 + RNA INS - - CC TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr21:11181291_11181292insCC ENST00000603265.1 + 0 231 AATGCGTATTTCACTGTCAGAG 0.485 9 123 --- --- --- ---