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 RBBP4 5928 broad.mit.edu 37 1 33138283 33138283 + Missense_Mutation SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr1:33138283G>A ENST00000373493.5 + 10 1243 c.1084G>A c.(1084-1086)Ggg>Agg p.G362R RBBP4_ENST00000373485.1_Missense_Mutation_p.G362R|RBBP4_ENST00000414241.3_Missense_Mutation_p.G361R|RBBP4_ENST00000544435.1_Missense_Mutation_p.G110R|RBBP4_ENST00000458695.2_Missense_Mutation_p.G327R NM_001135255.1|NM_005610.2 NP_001128727.1|NP_005601.1 Q09028 RBBP4_HUMAN retinoblastoma binding protein 4 362 cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex histone binding|histone deacetylase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) TGCAGAAGACGGGCCACCAGA 0.368000 3 25 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170805171 170805171 + Missense_Mutation SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr3:170805171C>T ENST00000436636.2 - 24 3190 c.2846G>A c.(2845-2847)cGc>cAc p.R949H TNIK_ENST00000470834.1_Missense_Mutation_p.R912H|TNIK_ENST00000341852.6_Missense_Mutation_p.R865H|TNIK_ENST00000460047.1_Missense_Mutation_p.R886H|TNIK_ENST00000488470.1_Missense_Mutation_p.R894H|TNIK_ENST00000369326.5_Missense_Mutation_p.R927H|TNIK_ENST00000357327.5_Missense_Mutation_p.R920H|TNIK_ENST00000284483.8_Missense_Mutation_p.R941H|TNIK_ENST00000538048.1_Missense_Mutation_p.R901H|TNIK_ENST00000475336.1_Missense_Mutation_p.R857H NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 949 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GGTTGAGACGCGCCCCAGTCC 0.582000 7 75 0 0 1 0 0 NRN1 51299 broad.mit.edu 37 6 6002627 6002627 + Silent SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr6:6002627C>T ENST00000244766.2 - 2 376 c.159G>A c.(157-159)ccG>ccA p.P53P NRN1_ENST00000495850.1_5'UTR NM_016588.2 NP_057672.1 Q9NPD7 NRN1_HUMAN neuritin 1 53 anchored to membrane|plasma membrane endometrium(2)|large_intestine(2)|lung(4) 8 Ovarian(93;0.0816) all_hematologic(90;0.151) OV - Ovarian serous cystadenocarcinoma(45;0.00415) CCAGGCCCTGCGGGTAGTTGG 0.602000 6 63 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807419 20807419 + Missense_Mutation SNP C C G TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr19:20807419C>G ENST00000601440.1 - 4 1410 c.1264G>C c.(1264-1266)Gag>Cag p.E422Q CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 TAGGGTCTCTCTCCAGTATGA 0.378000 5 26 0 0 1 0 0 KCNK13 56659 broad.mit.edu 37 14 90651171 90651171 + Missense_Mutation SNP G G C TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr14:90651171G>C ENST00000282146.4 + 2 1492 c.1051G>C c.(1051-1053)Gac>Cac p.D351H NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 351 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) CTCCATGAAGGACTTGCTGGC 0.627000 10 36 0 0 1 0 0 GPM6A 2823 broad.mit.edu 37 4 176622894 176622894 + Missense_Mutation SNP C C A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr4:176622894C>A ENST00000280187.7 - 3 107 c.62G>T c.(61-63)tGc>tTc p.C21F GPM6A_ENST00000506894.1_Missense_Mutation_p.C10F|GPM6A_ENST00000515090.1_Missense_Mutation_p.C14F|GPM6A_ENST00000393658.2_Missense_Mutation_p.C21F NM_005277.4 NP_005268.1 P51674 GPM6A_HUMAN glycoprotein M6A 21 cell surface|integral to membrane NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) GCCCCCCAGGCATTTGATACA 0.433000 6 67 0.000157383 0.000164938 1 1 0 PSAP 5660 broad.mit.edu 37 10 73591605 73591605 + Missense_Mutation SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr10:73591605C>T ENST00000394936.3 - 3 394 c.247G>A c.(247-249)Gag>Aag p.E83K PSAP_ENST00000394934.1_Missense_Mutation_p.E83K P07602 SAP_HUMAN prosaposin 83 Saposin B-type 1. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 CCGCTCACCTCAGTGGCATTG 0.512000 14 108 0 0 1 0 0 MAP3K2 10746 broad.mit.edu 37 2 128066276 128066276 + Missense_Mutation SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr2:128066276G>A ENST00000409947.1 - 16 1801 c.1519C>T c.(1519-1521)Cgg>Tgg p.R507W MAP3K2_ENST00000344908.5_Missense_Mutation_p.R507W Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 2 507 Protein kinase. activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) GTCTGAAGCCGTTTGCTGGCC 0.458000 6 100 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107642158 107642158 + Missense_Mutation SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr7:107642158G>A ENST00000393561.1 - 1 314 c.130C>T c.(130-132)Cgc>Tgc p.R44C LAMB1_ENST00000222399.6_Missense_Mutation_p.R20C|LAMB1_ENST00000393560.1_Missense_Mutation_p.R20C P07942 LAMB1_HUMAN laminin, beta 1 20 Laminin N-terminal. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCCTGAGCGCGCACTCGGGCT 0.642000 3 21 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 31030518 31030518 + Missense_Mutation SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr8:31030518C>T ENST00000298139.5 + 35 4448 c.4199C>T c.(4198-4200)tCt>tTt p.S1400F RP11-363L24.3_ENST00000521252.1_RNA|RP11-363L24.3_ENST00000523365.1_RNA NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 1400 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CAGACTTCATCTGCAGAGAGA 0.358000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 9 44 0 0 1 0 0 MPP2 4355 broad.mit.edu 37 17 41958921 41958921 + Nonsense_Mutation SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr17:41958921G>A ENST00000269095.4 - 7 1022 c.718C>T c.(718-720)Cga>Tga p.R240* MPP2_ENST00000377184.3_Nonsense_Mutation_p.R257*|MPP2_ENST00000523501.1_Nonsense_Mutation_p.R229*|MPP2_ENST00000518766.1_Nonsense_Mutation_p.R285*|MPP2_ENST00000461854.1_Nonsense_Mutation_p.R264*|MPP2_ENST00000520305.1_Nonsense_Mutation_p.R101*|MPP2_ENST00000536246.1_Nonsense_Mutation_p.R229* NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 264 PDZ. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) AGGCTGTCTCGGGCCGGGTCA 0.582000 5 41 0 0 1 0 0 C17orf70 80233 broad.mit.edu 37 17 79514274 79514274 + Missense_Mutation SNP C C T rs35394179 TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr17:79514274C>T ENST00000537152.1 - 5 1906 c.1381G>A c.(1381-1383)Ggg>Agg p.G461R C17orf70_ENST00000425898.2_Missense_Mutation_p.G261R|C17orf70_ENST00000327787.8_Missense_Mutation_p.G612R NM_025161.5 NP_079437.5 Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 612 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) GCAAGGGCCCCGCCCACCACC 0.672000 7 65 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656621 40656621 + Missense_Mutation SNP C C A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr2:40656621C>A ENST00000406785.1 - 2 989 c.800G>T c.(799-801)cGa>cTa p.R267L SLC8A1_ENST00000402441.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R267L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R267L|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R267L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R267L P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 267 Calmodulin-binding (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding p.R267L(2) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CTTGCCAGCTCGATACCTCTT 0.433000 100 123 7.62712e-44 8.39624e-44 1 1 0 VAV1 7409 broad.mit.edu 37 19 6850734 6850734 + Missense_Mutation SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr19:6850734G>A ENST00000304076.2 + 23 2211 c.2117G>A c.(2116-2118)cGg>cAg p.R706Q VAV1_ENST00000599806.1_Missense_Mutation_p.R673Q|VAV1_ENST00000539284.1_Missense_Mutation_p.R631Q|VAV1_ENST00000596764.1_Missense_Mutation_p.R696Q|VAV1_ENST00000602142.1_Missense_Mutation_p.R728Q NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 728 SH2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GGACTGTACCGGATCACAGAG 0.552000 4 28 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814845 106814845 + Silent SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr8:106814845G>A ENST00000407775.2 + 8 2785 c.2535G>A c.(2533-2535)acG>acA p.T845T RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.T576T|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.T713T|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Silent_p.T713T NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 845 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GGACGACCACGTCTCCCAAAA 0.478000 9 12 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100549486 100549486 + Missense_Mutation SNP T T C TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr7:100549486T>C ENST00000379458.4 + 2 67 c.67T>C c.(67-69)Tta>Cta p.23_23insL MUC3A_ENST00000483366.1_3'UTR mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TGCAGGAACTTTATCCACGGC 0.527000 35 76 0 0 1 0 0 SLC35F1 222553 broad.mit.edu 37 6 118475631 118475631 + Missense_Mutation SNP T T A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr6:118475631T>A ENST00000360388.4 + 2 398 c.197T>A c.(196-198)cTa>cAa p.L66Q NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 66 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) TCTGTGGCCCTAGGCCAGGTG 0.418000 6 77 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 29 0 0 1 0 0 C14orf119 55017 broad.mit.edu 37 14 23567243 23567243 + Missense_Mutation SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr14:23567243G>A ENST00000319074.4 + 2 1232 c.376G>A c.(376-378)Gtg>Atg p.V126M C14orf119_ENST00000554203.1_Missense_Mutation_p.V126M NM_017924.3 NP_060394.1 Q9NWQ9 CN119_HUMAN chromosome 14 open reading frame 119 126 central_nervous_system(1)|endometrium(1)|lung(1) 3 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00649) GCCAGACTTCGTGGCAAAGTT 0.498000 8 72 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30935708 30935708 + Silent SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr19:30935708G>A ENST00000355537.3 + 2 1386 c.1239G>A c.(1237-1239)gtG>gtA p.V413V NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) AGGTGCCTGTGCCCATGGGCG 0.622000 7 37 0 0 1 0 0 ATP4A 495 broad.mit.edu 37 19 36041995 36041995 + Silent SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr19:36041995G>A ENST00000262623.3 - 20 2932 c.2904C>T c.(2902-2904)atC>atT p.I968I NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 968 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) ACACGATGGCGATCACCAGGA 0.552000 9 7 0 0 1 0 0 SEC23IP 11196 broad.mit.edu 37 10 121662313 121662313 + Silent SNP T T G TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr10:121662313T>G ENST00000369075.3 + 3 771 c.699T>G c.(697-699)gtT>gtG p.V233V SEC23IP_ENST00000543134.1_Silent_p.V22V NM_007190.3 NP_009121.1 Q9Y6Y8 S23IP_HUMAN SEC23 interacting protein 233 Interaction with SEC23A.|Pro-rich. 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) CCCTCCAGGTTCCTTCTTCAG 0.468000 19 52 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61778373 61778373 + Missense_Mutation SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr8:61778373G>A ENST00000423902.2 + 38 9354 c.8875G>A c.(8875-8877)Gag>Aag p.E2959K CHD7_ENST00000524602.1_Missense_Mutation_p.E910K NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2959 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CAGCGATGCCGAGGAGAGCCT 0.522000 6 32 0 0 1 0 0 EIF2A 83939 broad.mit.edu 37 3 150285973 150285973 + Silent SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr3:150285973G>A ENST00000460851.1 + 9 814 c.705G>A c.(703-705)gtG>gtA p.V235V SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000487799.1_Silent_p.V210V|EIF2A_ENST00000406576.3_Silent_p.V174V|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000383043.3_Silent_p.V21V|EIF2A_ENST00000273435.5_Silent_p.V230V Q9BY44 EIF2A_HUMAN eukaryotic translation initiation factor 2A, 65kDa 235 regulation of translation|ribosome assembly eukaryotic translation initiation factor 2 complex ribosome binding|translation initiation factor activity|tRNA binding cervix(1)|endometrium(2)|kidney(1)|lung(3) 7 Melanoma(1037;0.0575) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CTACTGCTGTGTTGGTAATAG 0.353000 9 36 0 0 1 0 0 VPS33A 65082 broad.mit.edu 37 12 122729266 122729266 + Silent SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr12:122729266C>T ENST00000267199.4 - 7 931 c.819G>A c.(817-819)caG>caA p.Q273Q RP11-512M8.5_ENST00000535844.1_Silent_p.Q234Q NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 273 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) CACCATCGCCCTGTTTCTTAG 0.488000 12 67 0 0 1 0 0 ADPRHL1 113622 broad.mit.edu 37 13 114079468 114079468 + Missense_Mutation SNP C C G TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr13:114079468C>G ENST00000356501.4 - 5 602 c.427G>C c.(427-429)Gaa>Caa p.E143Q ADPRHL1_ENST00000375418.3_Missense_Mutation_p.E225Q NM_199162.1 NP_954631.1 Q8NDY3 ARHL1_HUMAN ADP-ribosylhydrolase like 1 225 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 11 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116) CATTTAGCTTCAAAGTAAAAC 0.443000 5 67 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580445 40580445 + Missense_Mutation SNP T T A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr19:40580445T>A ENST00000450241.2 - 6 2113 c.1802A>T c.(1801-1803)cAc>cTc p.H601L ZNF780A_ENST00000594395.1_Missense_Mutation_p.H636L|ZNF780A_ENST00000455521.1_Missense_Mutation_p.H636L|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.H635L|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.H635L O75290 Z780A_HUMAN zinc finger protein 780A 635 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CTCACCTGTGTGAATGTTCTT 0.413000 13 64 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544994 82544994 + Missense_Mutation SNP C C G TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr7:82544994C>G ENST00000423517.2 - 7 12645 c.12308G>C c.(12307-12309)aGa>aCa p.R4103T PCLO_ENST00000437081.1_Missense_Mutation_p.R823T|PCLO_ENST00000333891.8_Missense_Mutation_p.R4103T NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4034 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ACTATGCAATCTAGAGGAAGA 0.448000 3 31 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84530548 84530548 + RNA SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr9:84530548G>A ENST00000527857.1 + 0 570 NR_026851.1 AACCACTCCAGAAGACCTAAT 0.512000 4 33 0 0 1 0 0 ACOX2 8309 broad.mit.edu 37 3 58508313 58508313 + Silent SNP T T C TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr3:58508313T>C ENST00000302819.5 - 12 1833 c.1542A>G c.(1540-1542)tcA>tcG p.S514S ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Silent_p.S500S NM_003500.3 NP_003491.1 Q99424 ACOX2_HUMAN acyl-CoA oxidase 2, branched chain 514 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) AATGCTGCACTGAGTCCTTTA 0.522000 8 33 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230725191 230725191 + Missense_Mutation SNP G G C TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr2:230725191G>C ENST00000389044.4 - 3 323 c.155C>G c.(154-156)tCt>tGt p.S52C TRIP12_ENST00000409677.1_Missense_Mutation_p.S52C|TRIP12_ENST00000283943.5_Intron|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Missense_Mutation_p.S52C Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 34 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CTTAGAATTAGATTTTCTACT 0.383000 15 69 0 0 1 0 0 NXPH3 11248 broad.mit.edu 37 17 47656174 47656174 + Missense_Mutation SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr17:47656174C>T ENST00000328741.5 + 2 633 c.271C>T c.(271-273)Cca>Tca p.P91S NXPH3_ENST00000513748.1_Missense_Mutation_p.P91S NM_007225.2 NP_009156.2 O95157 NXPH3_HUMAN neurexophilin 3 91 III. neuropeptide signaling pathway extracellular region endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17) CCACAGCCCCCCACCCTCAGC 0.627000 9 35 0 0 1 0 0 RBBP7 5931 broad.mit.edu 37 X 16871871 16871871 + Missense_Mutation SNP T T A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chrX:16871871T>A ENST00000380087.2 - 6 1052 c.692A>T c.(691-693)gAt>gTt p.D231V RBBP7_ENST00000380084.4_Missense_Mutation_p.D275V|RBBP7_ENST00000404022.1_Missense_Mutation_p.D222V Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 231 cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex|NuRD complex protein binding biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 25 Hepatocellular(33;0.0997) CCAGGCCACATCCTCTACAAC 0.433000 8 33 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155203374 155203374 + Silent SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr3:155203374G>A ENST00000460012.1 - 22 3012 c.2655C>T c.(2653-2655)agC>agT p.S885S PLCH1_ENST00000447496.2_Silent_p.S923S|PLCH1_ENST00000414191.1_Silent_p.S885S|PLCH1_ENST00000340059.7_Silent_p.S923S|PLCH1_ENST00000334686.6_Silent_p.S885S|PLCH1_ENST00000494598.1_Silent_p.S903S Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 923 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGGCTGGGGCGCTAGCTGTGC 0.473000 4 66 0 0 1 0 0 KIAA0195 9772 broad.mit.edu 37 17 73489130 73489130 + Missense_Mutation SNP G G T rs142640709 TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr17:73489130G>T ENST00000314256.7 + 16 2427 c.2033G>T c.(2032-2034)cGg>cTg p.R678L KIAA0195_ENST00000375248.5_Missense_Mutation_p.R688L|KIAA0195_ENST00000579208.1_Missense_Mutation_p.R329L NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 678 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GTCACCAAGCGGCGGCCTCCC 0.602000 8 40 5.18039e-06 5.51733e-06 1 1 0 JAKMIP3 282973 broad.mit.edu 37 10 133966476 133966476 + Silent SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr10:133966476G>A ENST00000298622.4 + 16 2154 c.2016G>A c.(2014-2016)gaG>gaA p.E672E JAKMIP3_ENST00000477275.1_3'UTR NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) TGACCAATGAGGAGCAGGTGG 0.582000 2 1 0 0 1 0 0 LMOD2 442721 broad.mit.edu 37 7 123302858 123302858 + Missense_Mutation SNP A A T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr7:123302858A>T ENST00000458573.2 + 2 1375 c.1218A>T c.(1216-1218)aaA>aaT p.K406N LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 406 Pro-rich. cytoskeleton actin binding|tropomyosin binding TCCCCAAAAAAGTCCAGACTG 0.567000 7 42 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29933536 29933536 + Missense_Mutation SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr13:29933536G>A ENST00000431530.3 + 6 3131 c.3073G>A c.(3073-3075)Gcg>Acg p.A1025T NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 1015 Localization to the growing distal tip of microtubules. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GCTGGGCGTTGCGCAAGGGGA 0.642000 5 16 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15319196 15319196 + Silent SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr2:15319196C>T ENST00000281513.5 - 51 6781 c.6756G>A c.(6754-6756)ctG>ctA p.L2252L NBAS_ENST00000441750.1_Silent_p.L2132L NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 2252 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 GAGATGGAAGCAGGAGGGACT 0.552000 6 48 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44561319 44561319 + Missense_Mutation SNP T T A rs146911955 byFrequency TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr18:44561319T>A ENST00000332567.4 - 1 669 c.317A>T c.(316-318)cAg>cTg p.Q106L KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 106 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding p.Q106R(1) breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GGCCTTTTCCTGGTCCTGAAG 0.652000 20 47 0 0 1 0 0 BMP6 654 broad.mit.edu 37 6 7727541 7727541 + Missense_Mutation SNP A A T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr6:7727541A>T ENST00000283147.6 + 1 512 c.353A>T c.(352-354)cAg>cTg p.Q118L NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 118 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity p.Q118L(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) cagcagcagcagcTGCCTCGC 0.731000 3 19 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23765013 23765013 + Nonsense_Mutation SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr9:23765013C>T ENST00000380110.4 - 2 133 c.66G>A c.(64-66)tgG>tgA p.W22* ELAVL2_ENST00000544538.1_Intron|ELAVL2_ENST00000380117.1_Intron|ELAVL2_ENST00000223951.6_Intron|ELAVL2_ENST00000397312.2_Intron Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 0 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) AGACCCCGGTCCAAGGCTCTG 0.463000 6 64 0 0 1 0 0 SATB2 23314 broad.mit.edu 37 2 200193463 200193463 + Silent SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr2:200193463G>A ENST00000443023.1 - 7 2632 c.1167C>T c.(1165-1167)gtC>gtT p.V389V RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000428695.1_Silent_p.V330V|SATB2_ENST00000457245.1_Silent_p.V448V|SATB2_ENST00000417098.1_Silent_p.V448V|SATB2_ENST00000260926.5_Silent_p.V448V Q9UPW6 SATB2_HUMAN SATB homeobox 2 448 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 AGGCCGAGGAGACCATGCTCA 0.527000 8 55 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129828664 129828664 + Missense_Mutation SNP A A C TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr6:129828664A>C ENST00000421865.2 + 62 8783 c.8734A>C c.(8734-8736)Aat>Cat p.N2912H NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2912 Laminin G-like 4. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CTGCGTCAGGAATCTCCACAT 0.453000 13 87 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26423388 26423388 + Missense_Mutation SNP C C A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr22:26423388C>A ENST00000335473.7 + 43 7698 c.7448C>A c.(7447-7449)tCc>tAc p.S2483Y MYO18B_ENST00000407587.2_Missense_Mutation_p.S2484Y|MYO18B_ENST00000536101.1_Missense_Mutation_p.S2483Y NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2483 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GCTAACCGTTCCTTTCTCTCG 0.562000 5 38 1 1 1 1 0 TRGV4 6977 broad.mit.edu 37 7 38393543 38393543 + RNA SNP G G C TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr7:38393543G>C ENST00000390345.2 - 0 460 CCTTCAGCAAGATCACAAGTG 0.512000 8 87 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79026749 79026749 + Silent SNP T T C TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr5:79026749T>C ENST00000446378.2 + 2 2192 c.2161T>C c.(2161-2163)Tta>Cta p.L721L NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 721 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TAAGTCCCCGTTAATATTGAA 0.453000 6 37 0 0 1 0 0 CASP4 837 broad.mit.edu 37 11 104821749 104821749 + Missense_Mutation SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr11:104821749G>A ENST00000444739.2 - 4 1359 c.449C>T c.(448-450)cCt>cTt p.P150L CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_Missense_Mutation_p.P94L NM_001225.3 NP_001216.1 P49662 CASP4_HUMAN caspase 4, apoptosis-related cysteine peptidase 150 apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2) 23 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) ATTCCTCGGAGGCAGATGGTC 0.463000 9 91 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 80158520 80158520 + Missense_Mutation SNP C C A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr14:80158520C>A ENST00000428277.2 + 4 992 c.606C>A c.(604-606)aaC>aaA p.N202K NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000281127.7_Intron|NRXN3_ENST00000557594.1_Intron|NRXN3_ENST00000554719.1_Intron|RP11-242P2.1_ENST00000553322.1_RNA NM_001105250.1 NP_001098720.1 Q9HDB5 NRX3B_HUMAN neurexin 3 200 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TTAAAGGCAACACTGATAATG 0.328000 3 19 0.004672 0.0047815 1 1 0 SOX17 64321 broad.mit.edu 37 8 55370808 55370808 + Missense_Mutation SNP G G T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr8:55370808G>T ENST00000297316.4 + 1 314 c.110G>T c.(109-111)aGc>aTc p.S37I NM_022454.3 NP_071899.1 Q9H6I2 SOX17_HUMAN SRY (sex determining region Y)-box 17 37 angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1) 18 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) GAGTCGCTGAGCCCCATCGGG 0.751000 3 15 0.004672 0.0047815 1 1 0 FGF9 2254 broad.mit.edu 37 13 22246293 22246293 + Missense_Mutation SNP C C G TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr13:22246293C>G ENST00000382353.5 + 1 772 c.242C>G c.(241-243)aCt>aGt p.T81S NM_002010.2 NP_002001.1 P31371 FGF9_HUMAN fibroblast growth factor 9 81 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division extracellular space growth factor activity|heparin binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2) 9 all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106) all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163) CCCAATGGTACTATCCAGGGA 0.458000 11 52 0 0 1 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26045748 26045748 + Missense_Mutation SNP A A T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr6:26045748A>T ENST00000540144.1 + 1 110 c.110A>T c.(109-111)aAg>aTg p.K37M NM_003531.2 NP_003522.1 P68431 H31_HUMAN histone cluster 1, H3c 37 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 GGTGGCGTGAAGAAACCTCAT 0.632000 11 26 0 0 1 0 0 SPATA12 353324 broad.mit.edu 37 3 57107805 57107805 + Missense_Mutation SNP G G C TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr3:57107805G>C ENST00000334325.1 + 2 758 c.83G>C c.(82-84)aGa>aCa p.R28T ARHGEF3_ENST00000338458.4_Intron NM_181727.1 NP_859078.1 Q7Z6I5 SPT12_HUMAN spermatogenesis associated 12 28 large_intestine(2)|lung(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129) GACTCTTCCAGACTCGTTCCA 0.552000 8 36 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 29001349 29001349 + Missense_Mutation SNP T T G rs151270578 TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr13:29001349T>G ENST00000282397.4 - 10 1634 c.1383A>C c.(1381-1383)caA>caC p.Q461H FLT1_ENST00000541932.1_Missense_Mutation_p.Q461H|FLT1_ENST00000539099.1_Missense_Mutation_p.Q461H NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 461 Ig-like C2-type 5. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TGATTGTAGGTTGAGGGATAC 0.463000 4 67 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167240192 167240192 + Silent SNP T T C TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr3:167240192T>C ENST00000308378.3 - 12 1934 c.1629A>G c.(1627-1629)gaA>gaG p.E543E WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000476376.1_Silent_p.E368E NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 543 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 ATAAAGAAATTTCCTTTTGAA 0.313000 8 43 0 0 1 0 0 WIPI1 55062 broad.mit.edu 37 17 66423284 66423284 + Missense_Mutation SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr17:66423284G>A ENST00000262139.5 - 11 1183 c.1184C>T c.(1183-1185)aCg>aTg p.T395M RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.T313M NM_017983.5 NP_060453.3 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 1 395 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 18 ACCTGGCACCGTGGAGGCTGA 0.567000 5 63 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31599400 31599400 + Missense_Mutation SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr18:31599400G>A ENST00000261592.5 - 6 1235 c.938C>T c.(937-939)gCg>gTg p.A313V NOL4_ENST00000535384.1_Missense_Mutation_p.A28V|NOL4_ENST00000538587.1_Missense_Mutation_p.A239V|NOL4_ENST00000535475.1_Missense_Mutation_p.A158V|NOL4_ENST00000269185.4_Missense_Mutation_p.A199V|NOL4_ENST00000589544.1_Missense_Mutation_p.A313V NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 313 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 AGTTAGCTGCGCAGAGAGGGG 0.473000 25 42 0 0 1 0 0 CKMT1B 1159 broad.mit.edu 37 15 43891412 43891412 + Missense_Mutation SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr15:43891412C>T ENST00000300283.6 + 10 1587 c.1195C>T c.(1195-1197)Cgt>Tgt p.R399C CKMT1B_ENST00000441322.1_Missense_Mutation_p.R399C NM_020990.3 NP_066270.1 P12532 KCRU_HUMAN creatine kinase, mitochondrial 1B 399 Phosphagen kinase C-terminal. creatine metabolic process mitochondrial inner membrane ATP binding|creatine kinase activity large_intestine(1)|lung(3)|skin(1) 5 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) Creatine(DB00148) TTGTGAACGGCGTCTGGAGAG 0.498000 10 119 0 0 1 0 0 HEATR6 63897 broad.mit.edu 37 17 58123500 58123500 + Missense_Mutation SNP C C G TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr17:58123500C>G ENST00000184956.6 - 19 2876 c.2860G>C c.(2860-2862)Gag>Cag p.E954Q HEATR6_ENST00000585976.1_Missense_Mutation_p.E842Q NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 954 binding p.E954Q(1) NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) ATAGACTCCTCAATGATTTCT 0.393000 7 82 0 0 1 0 0 VSTM1 284415 broad.mit.edu 37 19 54545598 54545598 + Missense_Mutation SNP G G C TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr19:54545598G>C ENST00000338372.2 - 5 595 c.420C>G c.(418-420)atC>atG p.I140M VSTM1_ENST00000376626.1_Intron|VSTM1_ENST00000366170.2_Missense_Mutation_p.I52M|VSTM1_ENST00000425006.2_3'UTR NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 140 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) TGCAGCTGAAGATGGCGACAA 0.542000 3 23 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103155722 103155722 + Missense_Mutation SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr7:103155722C>T ENST00000428762.1 - 50 8188 c.8029G>A c.(8029-8031)Gcc>Acc p.A2677T RELN_ENST00000424685.2_Missense_Mutation_p.A2677T|RELN_ENST00000343529.5_Missense_Mutation_p.A2677T NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 2677 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GGTACTGGGGCGCTGCTGAAG 0.542000 19 25 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152733428 152733428 + Missense_Mutation SNP G G C TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr1:152733428G>C ENST00000368773.1 + 2 1422 c.1364G>C c.(1363-1365)tGt>tCt p.C455S KPRP_ENST00000606109.1_Missense_Mutation_p.C455S NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 455 Pro-rich. cytoplasm p.C455Y(1) NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGGGCAGTGTGAGATTCCA 0.612000 14 95 0 0 1 0 0 MRPL3 11222 broad.mit.edu 37 3 131219333 131219333 + Silent SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr3:131219333G>A ENST00000264995.3 - 3 457 c.310C>T c.(310-312)Ctg>Ttg p.L104L MRPL3_ENST00000425847.2_Silent_p.L131L NM_007208.3 NP_009139.1 P09001 RM03_HUMAN mitochondrial ribosomal protein L3 104 translation mitochondrial large ribosomal subunit RNA binding|structural constituent of ribosome endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 ATCATGCCCAGCTTCAAGGCA 0.388000 4 67 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19460863 19460863 + Splice_Site SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr16:19460863G>A ENST00000396229.2 + 5 1707 c.e5-1 TMC5_ENST00000542583.2_Splice_Site|TMC5_ENST00000541464.1_Splice_Site|TMC5_ENST00000381414.4_Splice_Site NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CTTCCCTCCAGTGAACCCTGC 0.458000 35 70 0 0 1 0 0 ASIC3 9311 broad.mit.edu 37 7 150746472 150746472 + Missense_Mutation SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr7:150746472G>A ENST00000357922.4 + 1 1094 c.500G>A c.(499-501)cGt>cAt p.R167H ASIC3_ENST00000297512.8_Missense_Mutation_p.R167H|ASIC3_ENST00000349064.5_Missense_Mutation_p.R167H NM_020322.3 NP_064718.1 Q9UHC3 ACCN3_HUMAN acid-sensing (proton-gated) ion channel 3 167 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity TGTCGCTTCCGTGGCCAACCT 0.637000 10 63 0 0 1 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174188383 174188383 + Nonsense_Mutation SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr1:174188383C>T ENST00000251507.4 + 2 262 c.88C>T c.(88-90)Cag>Tag p.Q30* RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron NM_014857.4 NP_055672.3 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like 30 regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2) 45 TTTGGTTCCTCAGTATGCAGA 0.318000 7 47 0 0 1 0 0 ABTB1 80325 broad.mit.edu 37 3 127396078 127396078 + Silent SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr3:127396078C>T ENST00000468137.1 + 7 901 c.285C>T c.(283-285)ctC>ctT p.L95L ABTB1_ENST00000453791.2_Silent_p.L95L|ABTB1_ENST00000232744.8_Silent_p.L237L|ABTB1_ENST00000393363.3_Silent_p.L95L Q969K4 ABTB1_HUMAN ankyrin repeat and BTB (POZ) domain containing 1 237 cytoplasm|nucleolus|plasma membrane translation elongation factor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 ACCCCCGCCTCCGGGAGGACA 0.667000 3 14 0 0 1 0 0 NEK2 4751 broad.mit.edu 37 1 211840550 211840550 + Missense_Mutation SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr1:211840550G>A ENST00000366999.4 - 7 1147 c.1009C>T c.(1009-1011)Cgt>Tgt p.R337C NEK2_ENST00000366998.3_Missense_Mutation_p.R337C|NEK2_ENST00000540251.1_Missense_Mutation_p.R294C|NEK2_ENST00000462283.1_5'UTR NM_002497.3 NP_002488.1 P51955 NEK2_HUMAN NIMA-related kinase 2 337 Interaction with PCNT.|Necessary for interaction with MAD1L1.|Required for microtubule binding and for localization to the centrosomes. cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis centrosome|condensed chromosome kinetochore|cytosol|nucleolus ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) AGTCTCTCACGAACACAAAGC 0.378000 7 98 0 0 1 0 0 LMAN1L 79748 broad.mit.edu 37 15 75113085 75113085 + Nonsense_Mutation SNP C C G TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr15:75113085C>G ENST00000309664.5 + 8 1023 c.884C>G c.(883-885)tCa>tGa p.S295* LMAN1L_ENST00000379709.3_Nonsense_Mutation_p.S283* NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 295 ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ACTCCAAAATCAGACTCTGAA 0.612000 7 54 0 0 1 0 0 BEND2 139105 broad.mit.edu 37 X 18192182 18192182 + Missense_Mutation SNP G G T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chrX:18192182G>T ENST00000380033.4 - 12 2081 c.1949C>A c.(1948-1950)aCt>aAt p.T650N BEND2_ENST00000380030.3_Missense_Mutation_p.T559N NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 650 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 TGGATTATCAGTGGAAGGTTC 0.378000 4 26 0.184627 0.186048 1 1 0 CXCR2 3579 broad.mit.edu 37 2 218999925 218999925 + Missense_Mutation SNP T T A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr2:218999925T>A ENST00000318507.2 + 3 828 c.401T>A c.(400-402)aTc>aAc p.I134N NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 134 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 TATAGTGGCATCCTGCTACTG 0.527000 4 55 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40330439 40330439 + Missense_Mutation SNP C C G TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr17:40330439C>G ENST00000264661.3 - 3 699 c.367G>C c.(367-369)Gtc>Ctc p.V123L KCNH4_ENST00000607371.1_Missense_Mutation_p.V123L NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 123 PAC. regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) AACAGCACGACCTCCCCCATC 0.572000 6 32 0 0 1 0 0 CAPSL 133690 broad.mit.edu 37 5 35910084 35910084 + Missense_Mutation SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr5:35910084G>A ENST00000397367.2 - 4 535 c.409C>T c.(409-411)Cgt>Tgt p.R137C CAPSL_ENST00000397366.1_Missense_Mutation_p.R137C|CAPSL_ENST00000514524.1_Missense_Mutation_p.R137C NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 137 EF-hand 3. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) TATACTTCACGAAGGTCTTCG 0.393000 17 100 0 0 1 0 0 CYP2C8 1558 broad.mit.edu 37 10 96802818 96802818 + Missense_Mutation SNP C C A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr10:96802818C>A ENST00000371270.3 - 7 1072 c.978G>T c.(976-978)gaG>gaT p.E326D CYP2C8_ENST00000535898.1_Missense_Mutation_p.E224D|CYP2C8_ENST00000539050.1_Missense_Mutation_p.E240D NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 326 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding p.E326D(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) CATGATCAATCTCTTCCTGGA 0.438000 8 57 5.18039e-06 5.51733e-06 1 1 0 GPR37 2861 broad.mit.edu 37 7 124404324 124404324 + Missense_Mutation SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr7:124404324C>T ENST00000303921.2 - 1 1357 c.707G>A c.(706-708)cGc>cAc p.R236H NM_005302.2 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 236 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GTTTCCCCGGCGGGGACCCCC 0.642000 10 54 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117700104 117700104 + Missense_Mutation SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chrX:117700104G>A ENST00000276204.6 + 8 904 c.830G>A c.(829-831)aGt>aAt p.S277N DOCK11_ENST00000276202.7_Missense_Mutation_p.S277N Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 277 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 AACACCGACAGTTTAGTTCAA 0.348000 14 43 0 0 1 0 0 MOB2 81532 broad.mit.edu 37 11 1491582 1491582 + Silent SNP G G C TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr11:1491582G>C ENST00000329957.6 - 5 816 c.627C>G c.(625-627)ctC>ctG p.L209L MOB2_ENST00000526462.1_5'UTR NM_001172223.1 NP_001165694.1 Q70IA6 MOB2_HUMAN MOB kinase activator 2 178 nucleus|perinuclear region of cytoplasm metal ion binding breast(1)|kidney(2)|lung(1) 4 AGTGGACGTAGAGCGTGTTCA 0.597000 9 68 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20885955 20885955 + Silent SNP C C G TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr12:20885955C>G ENST00000381552.1 + 10 1667 c.1299C>G c.(1297-1299)gtC>gtG p.V433V SLCO1C1_ENST00000540354.1_Silent_p.V384V|SLCO1C1_ENST00000545102.1_Silent_p.V315V|SLCO1C1_ENST00000545604.1_Silent_p.V433V|SLCO1C1_ENST00000266509.2_Silent_p.V433V Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 433 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) GATCATCTGTCTTTGGTTACC 0.443000 11 91 0 0 1 0 0 SNRNP40 9410 broad.mit.edu 37 1 31769513 31769513 + Missense_Mutation SNP C C A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr1:31769513C>A ENST00000263694.4 - 1 104 c.86G>T c.(85-87)gGg>gTg p.G29V SNRNP40_ENST00000446633.2_Missense_Mutation_p.G29V NM_004814.2 NP_004805.2 Q96DI7 SNR40_HUMAN small nuclear ribonucleoprotein 40kDa (U5) 29 catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP protein binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 7 TGGGCCAGACCCCGCTCCCAA 0.637000 7 49 0.0293803 0.0298358 1 1 0 COTL1 23406 broad.mit.edu 37 16 84623742 84623742 + Missense_Mutation SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr16:84623742G>A ENST00000262428.4 - 3 449 c.287C>T c.(286-288)aCg>aTg p.T96M COTL1_ENST00000564057.1_Missense_Mutation_p.T27M NM_021149.2 NP_066972.1 Q14019 COTL1_HUMAN coactosin-like 1 (Dictyostelium) 96 ADF-H. cytoplasm|cytoskeleton actin binding|enzyme binding endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1) 6 GGTCTTGTCCGTCCCGGTTTT 0.602000 11 31 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154393920 154393920 + Silent SNP T T C TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr5:154393920T>C ENST00000435029.4 + 1 661 c.501T>C c.(499-501)ccT>ccC p.P167P NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 167 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GGGAGGATCCTAAGGAAGGCA 0.408000 25 112 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8239292 8239292 + Silent SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr4:8239292C>T ENST00000539824.1 + 17 3794 c.3420C>T c.(3418-3420)ctC>ctT p.L1140L SH3TC1_ENST00000245105.3_Silent_p.L1216L Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 1216 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 ACTTCTACCTCAAGGCCCTGT 0.637000 5 13 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458047 248458047 + Missense_Mutation SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr1:248458047C>T ENST00000317996.1 - 1 833 c.834G>A c.(832-834)atG>atA p.M278I NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) AAGGGGTGAACATAGTATAGA 0.473000 30 119 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77619532 77619532 + Missense_Mutation SNP C C G TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr13:77619532C>G ENST00000407578.2 - 83 14284 c.14018G>C c.(14017-14019)aGa>aCa p.R4673T MYCBP2_ENST00000544440.2_Missense_Mutation_p.R4635T|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R4635T NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 4635 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GTGGGCATTTCTGCACACTCC 0.478000 7 40 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr17:7578394T>A ENST00000420246.2 - 5 668 c.536A>T c.(535-537)cAt>cTt p.H179L TP53_ENST00000269305.4_Missense_Mutation_p.H179L|TP53_ENST00000445888.2_Missense_Mutation_p.H179L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179L|TP53_ENST00000413465.2_Missense_Mutation_p.H179L|TP53_ENST00000455263.2_Missense_Mutation_p.H179L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 179 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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) GCAGCGCTCATGGTGGGGGCA 0.642000 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) 18 25 0 0 1 0 0 ATP2C1 27032 broad.mit.edu 37 3 130694231 130694231 + Missense_Mutation SNP G G A rs137853014 TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr3:130694231G>A ENST00000510168.1 + 18 2019 c.1469G>A c.(1468-1470)tGt>tAt p.C490Y ATP2C1_ENST00000393221.4_Missense_Mutation_p.C524Y|ATP2C1_ENST00000504381.1_Missense_Mutation_p.C435Y|ATP2C1_ENST00000359644.3_Missense_Mutation_p.C490Y|ATP2C1_ENST00000507488.2_Missense_Mutation_p.C474Y|ATP2C1_ENST00000428331.2_Missense_Mutation_p.C490Y|ATP2C1_ENST00000513801.1_Missense_Mutation_p.C474Y|ATP2C1_ENST00000504948.1_Missense_Mutation_p.C474Y|ATP2C1_ENST00000422190.2_Missense_Mutation_p.C490Y|ATP2C1_ENST00000505330.1_Missense_Mutation_p.C474Y|ATP2C1_ENST00000508532.1_Missense_Mutation_p.C490Y|ATP2C1_ENST00000533801.2_Missense_Mutation_p.C485Y|ATP2C1_ENST00000328560.8_Missense_Mutation_p.C490Y P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 490 C -> F (in HHD). actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) ATTAAGTACTGTACTACATAC 0.423000 Hailey-Hailey disease 13 74 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13421096 13421096 + Missense_Mutation SNP G G C rs149916127 TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr3:13421096G>C ENST00000254508.5 - 7 1025 c.943C>G c.(943-945)Ctg>Gtg p.L315V NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 315 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) CTCTGTCCCAGCTGCAGTGCA 0.587000 4 41 0 0 1 0 0 ASB2 51676 broad.mit.edu 37 14 94417390 94417390 + Missense_Mutation SNP C C T rs142812400 TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr14:94417390C>T ENST00000555019.1 - 6 1265 c.835G>A c.(835-837)Gcc>Acc p.A279T ASB2_ENST00000315988.4_Missense_Mutation_p.A231T|ASB2_ENST00000556337.1_Intron NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 231 intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) CCACTCTGGGCGGCCACGAAC 0.587000 20 105 0 0 1 0 0 SPICE1 152185 broad.mit.edu 37 3 113176157 113176157 + Missense_Mutation SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr3:113176157C>T ENST00000295872.4 - 13 1742 c.1483G>A c.(1483-1485)Gag>Aag p.E495K NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 495 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 GCCACTTCCTCTCTGAACATC 0.443000 4 81 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702585 27702585 + Missense_Mutation SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr10:27702585C>T ENST00000438700.3 - 1 712 c.595G>A c.(595-597)Gcc>Acc p.A199T NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 199 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 CTCCTGGAGGCGGAGAAGCGG 0.602000 30 85 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20488851 20488851 + RNA SNP G G T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr15:20488851G>T ENST00000555186.1 + 0 334 NR_038836.1 TGTTTCTGTTGGGACTGCTGG 0.448000 14 83 1.05317e-09 1.14971e-09 1 1 0 AMOTL2 51421 broad.mit.edu 37 3 134086462 134086462 + Silent SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr3:134086462C>T ENST00000514516.1 - 3 1270 c.1092G>A c.(1090-1092)tcG>tcA p.S364S AMOTL2_ENST00000249883.5_Silent_p.S306S|AMOTL2_ENST00000513145.1_Silent_p.S306S|AMOTL2_ENST00000422605.2_Silent_p.S306S NM_001278683.1 NP_001265612.1 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 306 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 GGGCACTGCCCGAGGTGGCTG 0.677000 14 50 0 0 1 0 0 CYP7A1 1581 broad.mit.edu 37 8 59410811 59410811 + Missense_Mutation SNP A A T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr8:59410811A>T ENST00000301645.3 - 2 435 c.298T>A c.(298-300)Ttt>Att p.F100I NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 100 F -> S. bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) GCAAAGTGAAATTTTTTCCAA 0.323000 Neonatal Giant Cell Hepatitis 9 101 0 0 1 0 0 PCYOX1 51449 broad.mit.edu 37 2 70503972 70503972 + Silent SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr2:70503972G>A ENST00000433351.2 + 6 994 c.966G>A c.(964-966)tcG>tcA p.S322S PCYOX1_ENST00000545138.1_Silent_p.S244S|PCYOX1_ENST00000264441.5_Intron|PCYOX1_ENST00000505044.2_Silent_p.S245S NM_016297.3 NP_057381.3 Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 322 prenylated protein catabolic process lysosome|very-low-density lipoprotein particle prenylcysteine oxidase activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6) 15 GAAAAATGTCGAATATTACTT 0.368000 4 46 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98392478 98392478 + Missense_Mutation SNP T T C TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr2:98392478T>C ENST00000186436.5 - 32 4376 c.4148A>G c.(4147-4149)aAa>aGa p.K1383R NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1383 Lys-rich. integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 AGGTTTTCCTTTCCCTGAGGA 0.438000 5 36 0 0 1 0 0 TRPC4AP 26133 broad.mit.edu 37 20 33596524 33596524 + Missense_Mutation SNP C C A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr20:33596524C>A ENST00000252015.2 - 13 1627 c.1538G>T c.(1537-1539)gGc>gTc p.G513V TRPC4AP_ENST00000432634.2_Missense_Mutation_p.G474V|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.G115V|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.G505V Q8TEL6 TP4AP_HUMAN transient receptor potential cation channel, subfamily C, member 4 associated protein 513 protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(18;0.00936) AGTTAATAAGCCCCTCTTCCC 0.537000 6 66 0.00116845 0.00121481 1 1 0 IFNAR1 3454 broad.mit.edu 37 21 34727622 34727622 + Splice_Site SNP T T C TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr21:34727622T>C ENST00000270139.3 + 11 1593 c.1440_splice c.e11-1 p.Y481_splice IFNAR1_ENST00000442357.2_Splice_Site_p.Y420_splice|IFNAR1_ENST00000416947.2_Splice_Site_p.Y412_splice NM_000629.2 NP_000620.2 P17181 INAR1_HUMAN interferon (alpha, beta and omega) receptor 1 481 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway integral to plasma membrane type I interferon receptor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2) 14 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) TTTAAATTAGTATTTCTCTGA 0.274000 7 23 0 0 1 0 0 MAVS 57506 broad.mit.edu 37 20 3845297 3845297 + Silent SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr20:3845297G>A ENST00000428216.2 + 6 1148 c.1020G>A c.(1018-1020)gcG>gcA p.A340A MAVS_ENST00000416600.2_Silent_p.A199A|MAVS_ENST00000358134.6_3'UTR NM_020746.4 NP_065797.2 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein 340 activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 CTTCTAATGCGCTCACCAATC 0.562000 7 87 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17482118 17482118 + Missense_Mutation SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr11:17482118C>T ENST00000302539.4 - 6 1053 c.928G>A c.(928-930)Gac>Aac p.D310N ABCC8_ENST00000389817.3_Missense_Mutation_p.D310N NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 310 ABC transmembrane type-1 1. D -> N (in HHF1). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CCCAGCAGGTCGGCCAAGATG 0.647000 9 54 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8722154 8722154 + Silent SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr20:8722154G>A ENST00000378641.3 + 23 2932 c.2457G>A c.(2455-2457)ctG>ctA p.L819L PLCB1_ENST00000378637.2_Silent_p.L819L|PLCB1_ENST00000338037.6_Silent_p.L819L|PLCB1_ENST00000494924.1_3'UTR NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 819 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 ATGTGAACCTGATGGAACAGA 0.368000 3 36 0 0 1 0 0 ZMYM6 9204 broad.mit.edu 37 1 35453023 35453023 + Missense_Mutation SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr1:35453023C>T ENST00000357182.4 - 16 3887 c.3660G>A c.(3658-3660)atG>atA p.M1220I ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000493328.1_5'UTR NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 1220 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) TTTGGTGATTCATAAAAGGGT 0.368000 12 57 0 0 1 0 0 BTNL3 10917 broad.mit.edu 37 5 180424310 180424310 + Silent SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr5:180424310C>T ENST00000342868.6 + 3 679 c.495C>T c.(493-495)gcC>gcT p.A165A NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 165 Ig-like V-type. lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) AGCCCACAGCCAAGTGGAAAG 0.522000 11 53 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350592 100350592 + RNA SNP T T C rs112032841 TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr7:100350592T>C ENST00000542585.1 + 0 3012 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCAGAAAAACTCACCATCCCC 0.512000 9 92 0 0 1 0 0 PNPLA7 375775 broad.mit.edu 37 9 140400147 140400147 + Silent SNP C C A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr9:140400147C>A ENST00000406427.1 - 14 1728 c.1392G>T c.(1390-1392)acG>acT p.T464T PNPLA7_ENST00000277531.4_Silent_p.T439T|PNPLA7_ENST00000371457.1_Silent_p.T45T NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 439 FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509). lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GGGTCTCATCCGTGTGACTCT 0.587000 5 101 1.23904e-05 1.30899e-05 1 1 0 NFIB 4781 broad.mit.edu 37 9 14150263 14150263 + Splice_Site SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr9:14150263C>T ENST00000380959.3 - 5 1160 c.685_splice c.e5-1 p.T229_splice NFIB_ENST00000543693.1_5'UTR|NFIB_ENST00000397575.3_Splice_Site_p.T229_splice|NFIB_ENST00000380953.1_Splice_Site_p.T229_splice|NFIB_ENST00000397581.2_Splice_Site_p.T229_splice|NFIB_ENST00000397579.2_Splice_Site_p.T229_splice|NFIB_ENST00000380924.1_5'UTR|NFIB_ENST00000380934.4_Splice_Site_p.T255_splice NM_005596.3 NP_005587.2 O00712 NFIB_HUMAN nuclear factor I/B 229 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) GGGTTATGGGCGCTGAGGAAT 0.438000 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" 93 88 0 0 1 0 0 ARL5A 26225 broad.mit.edu 37 2 152659794 152659794 + Missense_Mutation SNP C C G TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr2:152659794C>G ENST00000295087.8 - 6 847 c.536G>C c.(535-537)aGa>aCa p.R179T ARL5A_ENST00000428992.2_Missense_Mutation_p.R142T NM_001037174.1|NM_012097.3 NP_001032251.1|NP_036229.1 Q9Y689 ARL5A_HUMAN ADP-ribosylation factor-like 5A 179 small GTPase mediated signal transduction intracellular GTP binding breast(1)|large_intestine(2)|liver(1)|lung(2) 6 BRCA - Breast invasive adenocarcinoma(221;0.153) TAGAGATCATCTAATCTTAAG 0.313000 4 27 0 0 1 0 0 FAM86A 196483 broad.mit.edu 37 16 5145467 5145467 + Missense_Mutation SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr16:5145467C>T ENST00000427587.4 - 2 213 c.145G>A c.(145-147)Gat>Aat p.D49N FAM86A_ENST00000458008.4_Missense_Mutation_p.D49N|FAM86A_ENST00000587133.1_Missense_Mutation_p.D49N NM_201400.2 NP_958802.1 Q96G04 FA86A_HUMAN family with sequence similarity 86, member A 49 endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 12 TGCAAAATATCCCGCAGCAGC 0.488000 7 60 0 0 1 0 0 CALM2 805 broad.mit.edu 37 2 47389661 47389661 + Missense_Mutation SNP C C G TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr2:47389661C>G ENST00000272298.7 - 3 332 c.175G>C c.(175-177)Gat>Cat p.D59H CALM2_ENST00000409563.1_Missense_Mutation_p.D106H|CALM2_ENST00000422269.1_Intron NM_001743.4 NP_001734.1 P62158 CALM_HUMAN calmodulin 2 (phosphorylase kinase, delta) 59 EF-hand 2. activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding p.0?(2) kidney(1)|large_intestine(2)|lung(1)|skin(1) 5 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069) GACTTACCATCAGCATCTACT 0.398000 5 101 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 75078171 75078171 + Silent SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr14:75078171C>T ENST00000261978.4 - 1 863 c.477G>A c.(475-477)ccG>ccA p.P159P LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Silent_p.P159P NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 159 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GCCGCCCTCGCGGCGGGGTTG 0.731000 7 17 0 0 1 0 0 DDX11 1663 broad.mit.edu 37 12 31242413 31242413 + Missense_Mutation SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr12:31242413G>A ENST00000407793.2 + 8 1120 c.869G>A c.(868-870)aGa>aAa p.R290K DDX11_ENST00000228264.6_Missense_Mutation_p.R264K|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.R290K|DDX11_ENST00000350437.4_Missense_Mutation_p.R290K|DDX11_ENST00000542838.1_Missense_Mutation_p.R290K NM_030653.3|NM_152438.1 NP_085911.2|NP_689651.1 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 290 Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GACATGCAGAGAAGCAGGCAC 0.517000 Multiple Myeloma(12;0.14) 3 28 0 0 1 0 0 AADACL3 126767 broad.mit.edu 37 1 12785713 12785713 + Missense_Mutation SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr1:12785713C>T ENST00000332530.3 + 3 819 c.593C>T c.(592-594)cCc>cTc p.P198L AADACL3_ENST00000359318.5_Missense_Mutation_p.P268L NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 268 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) ATGTGCTCGCCCCTGATTGCA 0.493000 14 55 0 0 1 0 0 ALG1L 200810 broad.mit.edu 37 3 125652459 125652459 + Missense_Mutation SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr3:125652459C>T ENST00000340333.3 - 2 222 c.59G>A c.(58-60)cGc>cAc p.R20H NM_001015050.2|NM_001195223.1 NP_001015050.2|NP_001182152.1 Q6GMV1 ALG1L_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 20 transferase activity, transferring glycosyl groups large_intestine(2)|lung(2) 4 TGGCCACTCGCGGAGATGCAT 0.622000 6 20 0 0 1 0 0 MME 4311 broad.mit.edu 37 3 154898213 154898213 + Missense_Mutation SNP T T C TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr3:154898213T>C ENST00000460393.1 + 23 2338 c.2218T>C c.(2218-2220)Tac>Cac p.Y740H MME_ENST00000492661.1_Missense_Mutation_p.Y740H|MME_ENST00000360490.2_Missense_Mutation_p.Y740H|MME_ENST00000493237.1_Missense_Mutation_p.Y740H|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000462745.1_Missense_Mutation_p.Y740H NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 740 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) CAAGAATTCATACATGAATCC 0.428000 30 87 0 0 1 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182898852 182898852 + Missense_Mutation SNP C C T rs141913952 TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr1:182898852C>T ENST00000367547.3 - 6 1348 c.1112G>A c.(1111-1113)cGt>cAt p.R371H SHCBP1L_ENST00000423786.1_Missense_Mutation_p.R252H|SHCBP1L_ENST00000488956.1_5'UTR NM_030933.2 NP_112195.2 Q9BZQ2 SHP1L_HUMAN SHC SH2-domain binding protein 1-like 443 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 TCCTTTCCTACGCCTCAGAAT 0.289000 10 25 0 0 1 0 0 RBBP8 5932 broad.mit.edu 37 18 20516826 20516826 + Silent SNP G G A rs141481899 byFrequency TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr18:20516826G>A ENST00000399722.2 + 2 363 c.12G>A c.(10-12)tcG>tcA p.S4S RBBP8_ENST00000360790.5_Silent_p.S4S|RBBP8_ENST00000327155.5_Silent_p.S4S|RBBP8_ENST00000399725.2_Silent_p.S4S NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 4 S -> L (in Ref. 1; AAC14371). cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) TGAACATCTCGGGAAGCAGCT 0.388000 Homologous recombination 22 66 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118376894 118376894 + Silent SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr11:118376894C>T ENST00000534358.1 + 27 10310 c.10287C>T c.(10285-10287)atC>atT p.I3429I KMT2A_ENST00000354520.4_Silent_p.I3388I|KMT2A_ENST00000389506.5_Silent_p.I3426I NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CATCTAGCATCTGTGTGCTCC 0.542000 7 95 0 0 1 0 0 MCOLN2 255231 broad.mit.edu 37 1 85422147 85422147 + Missense_Mutation SNP C C T TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr1:85422147C>T ENST00000370608.3 - 4 599 c.532G>A c.(532-534)Gag>Aag p.E178K MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.E150K NM_153259.2 NP_694991.2 Q8IZK6 MCLN2_HUMAN mucolipin 2 178 integral to membrane ion channel activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 18 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) TTCAGTGTCTCATTAGAAGGA 0.408000 19 112 0 0 1 0 0 SETD1A 9739 broad.mit.edu 37 16 30975976 30975976 + Missense_Mutation SNP T T A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr16:30975976T>A ENST00000262519.8 + 7 1599 c.913T>A c.(913-915)Tac>Aac p.Y305N NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 305 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 AGAGAACAGCTACCAAGATGC 0.597000 13 77 0 0 1 0 0 WNT2 7472 broad.mit.edu 37 7 116963002 116963002 + Silent SNP C C A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr7:116963002C>A ENST00000265441.3 - 1 341 c.42G>T c.(40-42)ctG>ctT p.L14L NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 14 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) AGGTCAAGAGCAGAGGGAGCC 0.622000 8 44 1.76689e-08 1.91292e-08 1 1 0 TRAPPC13 80006 broad.mit.edu 37 5 64956687 64956687 + Frame_Shift_Del DEL A A - TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr5:64956687delA ENST00000399438.3 + 10 1205 c.860delA c.(859-861)gafs p.E287fs TRAPPC13_ENST00000505553.1_Frame_Shift_Del_p.E281fs|TRAPPC13_ENST00000438419.2_Frame_Shift_Del_p.E287fs|TRAPPC13_ENST00000545191.1_Frame_Shift_Del_p.E288fs|TRAPPC13_ENST00000231526.4_Frame_Shift_Del_p.E281fs NM_001093755.1|NM_024941.3 NP_001087224.1|NP_079217.2 trafficking protein particle complex 13 AATCTAGGTGAAAGGGGAAGG 0.393 16 18 --- --- --- --- CNBD1 168975 broad.mit.edu 37 8 88365940 88365940 + Frame_Shift_Del DEL A A - TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr8:88365940delA ENST00000518476.1 + 10 1280 c.1229delA c.(1228-1230)cafs p.Q410fs NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 410 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 GTCCTTCTTCAAGTTCCTTTC 0.323 8 46 --- --- --- --- GPR132 29933 broad.mit.edu 37 14 105518104 105518106 + In_Frame_Del DEL AGA AGA - TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50ae1afb-03a8-4470-8e00-5037f448bd98 fd1b9890-2f7d-455d-90f6-aa3ad1073601 g.chr14:105518104_105518106delAGA ENST00000329797.3 - 4 1279_1281 c.368_370delTCT c.(367-372)tgc>t p.FC123del GPR132_ENST00000539291.2_In_Frame_Del_p.FC123del|GPR132_ENST00000392585.2_In_Frame_Del_p.FC114del|GPR132_ENST00000546679.1_5'UTR NM_013345.2 NP_037477.1 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 123 response to stress integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) TAGATGTTGCAGAAGAAGATGTA 0.631 9 159 --- --- --- ---