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 TTC33 23548 broad.mit.edu 37 5 40730380 40730380 + Missense_Mutation SNP T T A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:40730380T>A ENST00000337702.4 - 3 439 c.287A>T c.(286-288)tAc>tTc p.Y96F TTC33_ENST00000503936.2_Intron NM_012382.2 NP_036514.1 Q6PID6 TTC33_HUMAN tetratricopeptide repeat domain 33 96 binding NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1) 11 TTTCATCTCGTATAGGGTAGC 0.358000 5 86 0 0 1 0 0 TMEM59 9528 broad.mit.edu 37 1 54509117 54509117 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:54509117C>A ENST00000371344.1 - 1 1498 c.79G>T c.(79-81)Gca>Tca p.A27S TMEM59_ENST00000234831.5_Missense_Mutation_p.A158S|TMEM59_ENST00000371348.1_Missense_Mutation_p.A27S|TMEM59_ENST00000371341.1_Missense_Mutation_p.A27S Q9BXS4 TMM59_HUMAN transmembrane protein 59 158 Golgi membrane|integral to membrane kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 AAGCTCTGTGCGGAGTCCATC 0.393000 9 70 2.17888e-05 2.53785e-05 1 1 0 CACNA2D4 93589 broad.mit.edu 37 12 1955760 1955760 + Splice_Site SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:1955760C>T ENST00000382722.5 - 24 2704 c.2342_splice c.e24+1 p.R781_splice CACNA2D4_ENST00000588077.1_Splice_Site_p.R717_splice|CACNA2D4_ENST00000585732.1_Splice_Site_p.R642_splice|CACNA2D4_ENST00000585708.1_Splice_Site_p.R717_splice|CACNA2D4_ENST00000587995.1_Splice_Site_p.R756_splice|CACNA2D4_ENST00000586184.1_Splice_Site_p.R781_splice|CACNA2D4_ENST00000539048.2_5'UTR NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 781 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CCCAACCCACCTGTCGGAGAC 0.662000 3 14 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8745793 8745793 + Missense_Mutation SNP A A C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr20:8745793A>C ENST00000378641.3 + 26 3193 c.2718A>C c.(2716-2718)gaA>gaC p.E906D PLCB1_ENST00000338037.6_Missense_Mutation_p.E906D|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.E906D NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 906 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 CAGAAGTGGAAGCACAGACCA 0.408000 7 28 0 0 1 0 0 ASB10 136371 broad.mit.edu 37 7 150883748 150883748 + Splice_Site SNP T T G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:150883748T>G ENST00000422024.1 - 2 577 c.e2-2 ASB10_ENST00000377867.3_Splice_Site|ASB10_ENST00000275838.1_Splice_Site|ASB10_ENST00000420175.2_Splice_Site|ASB10_ENST00000434669.1_Splice_Site NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACCAGAGTCCTAGGGAGGGGA 0.652000 4 20 0 0 1 0 0 LST3 0 broad.mit.edu 37 12 21207407 21207407 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:21207407G>T ENST00000381541.3 + 11 1584 c.1519G>T c.(1519-1521)Gtg>Ttg p.V507L SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.V507L|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.V460L CTGTAGCTGTGTGGAAGTAAT 0.328000 4 89 0.150653 0.153173 1 1 0 ERBB4 2066 broad.mit.edu 37 2 212989572 212989572 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:212989572G>C ENST00000342788.4 - 2 449 c.139C>G c.(139-141)Cga>Gga p.R47G ERBB4_ENST00000402597.1_Missense_Mutation_p.R47G|ERBB4_ENST00000436443.1_Missense_Mutation_p.R47G NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 47 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CGCAAGGCTCGGTACTGCTGT 0.473000 TSP Lung(8;0.080) 5 49 0 0 1 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111126 7111126 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:7111126G>T ENST00000306904.5 + 1 962 c.775G>T c.(775-777)Gac>Tac p.D259Y NM_014469.4 NP_055284.3 O75526 HNRGT_HUMAN RNA binding motif protein, X-linked-like 2 259 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGGCTACAGCGACCGAGACGG 0.662000 6 51 0.0293803 0.0303797 1 1 0 ERP29 10961 broad.mit.edu 37 12 112460060 112460060 + Silent SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:112460060C>T ENST00000261735.3 + 3 540 c.390C>T c.(388-390)gtC>gtT p.V130V ERP29_ENST00000546477.1_Silent_p.V29V|ERP29_ENST00000455836.1_3'UTR NM_006817.3 NP_006808.1 P30040 ERP29_HUMAN endoplasmic reticulum protein 29 130 intracellular protein transport|protein folding|protein secretion endoplasmic reticulum lumen|melanosome protein disulfide isomerase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 5 AGAACCCAGTCCCATACACTG 0.552000 4 34 0 0 1 0 0 PRKG1 5592 broad.mit.edu 37 10 52912943 52912943 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:52912943G>A ENST00000373980.4 + 2 748 c.331G>A c.(331-333)Gaa>Aaa p.E111K PRKG1_ENST00000373985.1_Missense_Mutation_p.E84K|PRKG1_ENST00000401604.2_Missense_Mutation_p.E96K NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 96 actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) TCTTATAAAGGAAGCTATCCT 0.453000 44 103 0 0 1 0 0 FCHSD2 9873 broad.mit.edu 37 11 72712069 72712069 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:72712069G>A ENST00000409314.1 - 5 521 c.353C>T c.(352-354)aCa>aTa p.T118I FCHSD2_ENST00000311172.7_Missense_Mutation_p.T62I|FCHSD2_ENST00000409418.4_Missense_Mutation_p.T118I|FCHSD2_ENST00000458644.2_Intron|FCHSD2_ENST00000409853.1_Missense_Mutation_p.T62I O94868 FCSD2_HUMAN FCH and double SH3 domains 2 118 protein binding endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1) 22 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) GCTTCTCACTGTCCTTGCAGG 0.363000 6 20 0 0 1 0 0 STPG2 285555 broad.mit.edu 37 4 98480259 98480259 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:98480259C>G ENST00000295268.3 - 11 1419 c.1330G>C c.(1330-1332)Gag>Cag p.E444Q RP11-681L8.1_ENST00000518105.1_RNA|STPG2_ENST00000506482.1_Intron NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 TTCTTTTTCTCCTGGGATATC 0.274000 10 88 0 0 1 0 0 MEOX2 4223 broad.mit.edu 37 7 15652018 15652018 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:15652018G>A ENST00000262041.5 - 3 1318 c.909C>T c.(907-909)caC>caT p.H303H NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 303 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) TATATCATAAGTGCGCATGCT 0.483000 29 65 0 0 1 0 0 RPAP1 26015 broad.mit.edu 37 15 41829206 41829206 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr15:41829206C>A ENST00000304330.4 - 2 234 c.118G>T c.(118-120)Ggt>Tgt p.G40C RPAP1_ENST00000561603.1_Missense_Mutation_p.G40C NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 40 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GCATCACCACCGCCCCTATTT 0.587000 11 127 7.03913e-09 9.02909e-09 1 1 0 OR6C76 390326 broad.mit.edu 37 12 55820504 55820504 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:55820504C>G ENST00000328314.3 + 1 467 c.467C>G c.(466-468)cCa>cGa p.P156R NM_001005183.1 NP_001005183.1 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, member 76 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 ATTTTTCCACCACTGGCCATG 0.443000 7 124 0 0 1 0 0 CRLF2 64109 broad.mit.edu 37 X 1321382 1321382 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chrX:1321382C>A ENST00000381567.3 - 4 372 c.373G>T c.(373-375)Gtg>Ttg p.V125L CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.V125L NM_022148.2 NP_071431.2 Q9HC73 CRLF2_HUMAN cytokine receptor-like factor 2 125 Fibronectin type-III. extracellular region|integral to membrane|plasma membrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9) 20 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) GAAAATCTCACGTGCTTCGGG 0.542000 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 10 147 3.27435e-08 4.07952e-08 1 1 0 ADCY2 108 broad.mit.edu 37 5 7724663 7724663 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:7724663G>C ENST00000338316.4 + 13 1798 c.1709G>C c.(1708-1710)tGg>tCg p.W570S ADCY2_ENST00000537121.1_Missense_Mutation_p.W390S|RP11-711G10.1_ENST00000514105.2_RNA NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 570 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TCCAGGCAATGGCTCAAGTCT 0.333000 6 72 0 0 1 0 0 FSCB 84075 broad.mit.edu 37 14 44975456 44975456 + Missense_Mutation SNP T T G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:44975456T>G ENST00000340446.4 - 1 1026 c.735A>C c.(733-735)gaA>gaC p.E245D NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 245 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) CAGCAGAACCTTCTTGTACAA 0.413000 10 148 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25885651 25885651 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:25885651G>T ENST00000376351.3 + 10 2437 c.2078G>T c.(2077-2079)gGa>gTa p.G693V GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 693 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GGCCGATCTGGATCCTACCTG 0.438000 4 81 0.00024832 0.000275508 1 1 0 TBC1D2 55357 broad.mit.edu 37 9 101014085 101014085 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:101014085C>T ENST00000375066.5 - 2 584 c.493G>A c.(493-495)Gtc>Atc p.V165I TBC1D2_ENST00000375064.1_Missense_Mutation_p.V165I|TBC1D2_ENST00000342112.5_Intron NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 165 Interaction with CADH1. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) AGGTGCAGGACGGGCCCATTC 0.637000 31 48 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114275689 114275689 + Missense_Mutation SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:114275689A>T ENST00000357077.4 + 38 5968 c.5915A>T c.(5914-5916)cAa>cTa p.Q1972L ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.Q1939L|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1939 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ACAGAAAAGCAACCACCTGTA 0.498000 6 139 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44845479 44845479 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr20:44845479G>T ENST00000372262.3 - 4 1224 c.824C>A c.(823-825)cCc>cAc p.P275H CDH22_ENST00000537909.1_Missense_Mutation_p.P275H|CDH22_ENST00000474438.1_5'UTR NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 275 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CGGGAAACGGGGCGGGTTGTC 0.617000 5 187 3.59834e-05 4.14354e-05 1 1 0 NUP210L 91181 broad.mit.edu 37 1 153995740 153995740 + Nonsense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:153995740G>A ENST00000368559.3 - 31 4227 c.4156C>T c.(4156-4158)Caa>Taa p.Q1386* NUP210L_ENST00000368553.1_Nonsense_Mutation_p.Q319*|NUP210L_ENST00000271854.3_Nonsense_Mutation_p.Q1386* NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1386 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) AGCTTGGGTTGGCTGCTCACT 0.483000 9 112 0 0 1 0 0 C4orf27 54969 broad.mit.edu 37 4 170674954 170674954 + Missense_Mutation SNP T T A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:170674954T>A ENST00000393381.2 - 2 156 c.81A>T c.(79-81)aaA>aaT p.K27N NM_017867.2 NP_060337.2 Q9NWY4 CD027_HUMAN chromosome 4 open reading frame 27 27 nucleus NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1) 12 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116) CTTCACAGAATTTACTTTTCT 0.348000 4 47 0 0 1 0 0 ARHGEF25 115557 broad.mit.edu 37 12 58008537 58008537 + Silent SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:58008537G>T ENST00000286494.4 + 9 1342 c.882G>T c.(880-882)cgG>cgT p.R294R ARHGEF25_ENST00000333972.7_Silent_p.R333R|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA NM_182947.3 NP_891992.2 Q86VW2 ARHGP_HUMAN Rho guanine nucleotide exchange factor (GEF) 25 294 DH.|Important for binding to Rho GTPases. regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 28 CTGTGCAGCGGATCATGAAAT 0.602000 11 17 2.80697e-09 3.63115e-09 1 1 0 SLC16A5 9121 broad.mit.edu 37 17 73102069 73102069 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr17:73102069T>C ENST00000450736.2 + 6 1874 c.1459T>C c.(1459-1461)Tgg>Cgg p.W487R SLC16A5_ENST00000580123.1_Missense_Mutation_p.W487R|SLC16A5_ENST00000329783.4_Missense_Mutation_p.W487R O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 487 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) GTGGCTCTTATGGCCAAAGGC 0.587000 OREG0024726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 20 0 0 1 0 0 ZFY 7544 broad.mit.edu 37 Y 2829423 2829423 + Missense_Mutation SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chrY:2829423A>T ENST00000155093.3 + 3 691 c.370A>T c.(370-372)Att>Ttt p.I124F ZFY_ENST00000383052.1_Missense_Mutation_p.I124F|ZFY_ENST00000431102.1_Intron|ZFY_ENST00000449237.1_Missense_Mutation_p.I98F NM_003411.3 NP_003402.2 P08048 ZFY_HUMAN zinc finger protein, Y-linked 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3) 8 AGCTTCTGACATTACTTCAAC 0.403000 24 132 0 0 1 0 0 BPGM 669 broad.mit.edu 37 7 134346228 134346228 + Translation_Start_Site SNP T T G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:134346228T>G ENST00000393132.2 + 0 458 BPGM_ENST00000418040.1_De_novo_Start_InFrame|BPGM_ENST00000344924.3_De_novo_Start_InFrame NM_199186.2 NP_954655.1 P07738 PMGE_HUMAN 2,3-bisphosphoglycerate mutase glycolysis|respiratory gaseous exchange 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity breast(1)|endometrium(1)|lung(2)|stomach(1) 5 TATTAGCCCATTTGAAAACGC 0.373000 24 42 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31323630 31323630 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr18:31323630C>T ENST00000269197.5 + 12 3818 c.3818C>T c.(3817-3819)aCa>aTa p.T1273I NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1273 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GCAAACACTACAATTTCTGCT 0.388000 7 46 0 0 1 0 0 IKBKB 3551 broad.mit.edu 37 8 42183567 42183567 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr8:42183567C>G ENST00000520810.1 + 20 2252 c.2066C>G c.(2065-2067)tCt>tGt p.S689C IKBKB_ENST00000416505.2_Missense_Mutation_p.S630C|IKBKB_ENST00000379708.3_Missense_Mutation_p.S466C|IKBKB_ENST00000520835.1_Missense_Mutation_p.S687C|IKBKB_ENST00000522147.1_Intron NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 689 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) CAGCTGATGTCTCAGCCCTCC 0.562000 27 29 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 107862936 107862936 + Silent SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr13:107862936A>G ENST00000375915.2 - 2 1221 c.1083T>C c.(1081-1083)tgT>tgC p.C361C NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 361 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CTGTACCTGTACAGATGAAAC 0.458000 7 48 0 0 1 0 0 GBAS 2631 broad.mit.edu 37 7 56045919 56045919 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:56045919C>G ENST00000322090.3 + 2 222 c.193C>G c.(193-195)Cta>Gta p.L65V GBAS_ENST00000487370.1_3'UTR|GBAS_ENST00000446778.1_Missense_Mutation_p.L65V NM_001483.2 NP_001474.1 O75323 NIPS2_HUMAN glioblastoma amplified sequence 65 integral to plasma membrane|membrane fraction|mitochondrion protein binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2) 5 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CTCCAATCTCCTAGCCAAAAA 0.398000 7 114 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21731278 21731278 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr17:21731278G>T ENST00000584755.1 + 2 977 c.580G>T c.(580-582)Ggc>Tgc p.G194C UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR p.G194S(1) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GATCAGCAGAGGCTCATCTTT 0.547000 8 65 1.12685e-05 1.32264e-05 1 1 0 TAB2 23118 broad.mit.edu 37 6 149699976 149699976 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:149699976C>G ENST00000367456.1 + 4 1502 c.925C>G c.(925-927)Cat>Gat p.H309D TAB2_ENST00000286332.5_Missense_Mutation_p.H309D|TAB2_ENST00000538427.1_Missense_Mutation_p.H309D|TAB2_ENST00000536230.1_Missense_Mutation_p.H277D|TAB2_ENST00000392282.1_Missense_Mutation_p.H309D Q9NYJ8 TAB2_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 2 309 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 GTCTTCTGCCCATAGCCAATA 0.418000 18 80 0 0 1 0 0 GLUL 2752 broad.mit.edu 37 1 182355392 182355392 + Splice_Site SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:182355392C>T ENST00000311223.5 - 5 1370 c.475_splice c.e5+1 p.Q158_splice GLUL_ENST00000417584.2_Splice_Site_p.Q158_splice|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000339526.4_Splice_Site_p.Q158_splice|GLUL_ENST00000331872.6_Splice_Site_p.Q158_splice NM_002065.5 NP_002056.2 P15104 GLNA_HUMAN glutamate-ammonia ligase 158 cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 16 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) GAGACTTACCCTGGGGCCCTG 0.552000 26 94 0 0 1 0 0 LRR1 122769 broad.mit.edu 37 14 50081137 50081137 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:50081137G>T ENST00000298288.6 + 4 1492 c.1168G>T c.(1168-1170)Ggt>Tgt p.G390C LRR1_ENST00000318317.4_3'UTR NM_152329.3 NP_689542.2 Q96L50 LLR1_HUMAN leucine rich repeat protein 1 390 kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 AGATAATTTGGGTGGTACTGA 0.373000 3 72 0.004672 0.00498347 1 1 0 OR4X2 119764 broad.mit.edu 37 11 48266905 48266905 + Missense_Mutation SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:48266905A>G ENST00000302329.3 + 1 298 c.250A>G c.(250-252)Ata>Gta p.I84V NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 AAGGAAAGTCATATCTTGGTG 0.502000 11 124 0 0 1 0 0 MGMT 4255 broad.mit.edu 37 10 131334541 131334541 + Missense_Mutation SNP C C T rs141095230 byFrequency TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:131334541C>T ENST00000306010.7 + 2 150 c.118C>T c.(118-120)Cgc>Tgc p.R40C NM_002412.3 NP_002403.2 B4DEE8 B4DEE8_HUMAN O-6-methylguanine-DNA methyltransferase 40 breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) TGAAATGAAACGCACCACACT 0.458000 Direct reversal of damage 25 76 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16738407 16738407 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:16738407G>T ENST00000380672.4 - 2 137 c.80C>A c.(79-81)cCa>cAa p.P27Q BNC2_ENST00000380666.2_Missense_Mutation_p.P27Q|BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380667.2_Missense_Mutation_p.P27Q NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 27 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) GAAATATGCTGGCCAGTCTTG 0.443000 6 40 0.00116845 0.00126408 1 1 0 PTPRN 5798 broad.mit.edu 37 2 220167119 220167119 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:220167119C>T ENST00000295718.2 - 6 974 c.734G>A c.(733-735)aGc>aAc p.S245N PTPRN_ENST00000409251.3_Missense_Mutation_p.S245N|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.S155N NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 245 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GGCAGTTCTGCTGAAGAGGGC 0.632000 6 20 0 0 1 0 0 UCHL1 7345 broad.mit.edu 37 4 41270013 41270013 + Missense_Mutation SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:41270013A>G ENST00000284440.4 + 9 739 c.595A>G c.(595-597)Aag>Gag p.K199E UCHL1_ENST00000503431.1_Missense_Mutation_p.K199E|UCHL1_ENST00000512788.1_Silent_p.P208P|UCHL1_ENST00000508768.1_Missense_Mutation_p.K183E NM_004181.4 NP_004172.2 P09936 UCHL1_HUMAN ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) 199 cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus|plasma membrane alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2) 8 GGACGCTGCCAAGGTCTGCAG 0.493000 7 36 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220313108 220313108 + Nonsense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:220313108C>T ENST00000312358.7 + 4 1360 c.1228C>T c.(1228-1230)Cga>Tga p.R410* SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Nonsense_Mutation_p.R306*|SPEG_ENST00000396695.2_5'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 410 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CTTCGAGGAGCGACGGCGCAG 0.736000 2 2 0 0 1 0 0 BCAS4 55653 broad.mit.edu 37 20 49493042 49493042 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr20:49493042C>A ENST00000371608.2 + 5 509 c.509C>A c.(508-510)cCc>cAc p.P170H BCAS4_ENST00000262591.5_Missense_Mutation_p.P125H|BCAS4_ENST00000358791.5_Silent_p.A202A NM_198799.2 NP_942094.2 Q8TDM0 BCAS4_HUMAN breast carcinoma amplified sequence 4 0 cytoplasm large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1) 6 GCACCGGTGCCCGTGACGTAC 0.562000 6 207 0.00198382 0.00213858 1 1 0 OR8B3 390271 broad.mit.edu 37 11 124266624 124266624 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:124266624C>A ENST00000354597.3 - 1 640 c.624G>T c.(622-624)atG>atT p.M208I NM_001005467.1 NP_001005467.1 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, member 3 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AACTGGGTACCATGATATTAA 0.418000 4 173 0.00909568 0.00956777 1 1 0 XDH 7498 broad.mit.edu 37 2 31571173 31571173 + Silent SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:31571173C>A ENST00000379416.3 - 28 3156 c.3108G>T c.(3106-3108)ggG>ggT p.G1036G NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 1036 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CCATCTCAGTCCCCCCGTGGG 0.507000 19 47 0.000229342 0.000255384 1 1 0 OR6K2 81448 broad.mit.edu 37 1 158670335 158670335 + Silent SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:158670335A>T ENST00000359610.2 - 1 151 c.108T>A c.(106-108)gcT>gcA p.A36A NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) CAACAATGAAAGCATAGATGA 0.448000 10 87 0 0 1 0 0 YTHDF2 51441 broad.mit.edu 37 1 29069381 29069381 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:29069381C>T ENST00000373812.3 + 4 961 c.599C>T c.(598-600)gCa>gTa p.A200V YTHDF2_ENST00000541996.1_Missense_Mutation_p.A150V|YTHDF2_ENST00000542507.1_Missense_Mutation_p.A200V|YTHDF2_ENST00000478283.1_3'UTR NM_016258.2 NP_057342.2 Q9Y5A9 YTHD2_HUMAN YTH domain family, member 2 200 humoral immune response NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) ACAGAAGTTGCAAGCAATGTT 0.483000 4 26 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26807047 26807047 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:26807047C>A ENST00000381340.3 - 21 3018 c.2602G>T c.(2602-2604)Gct>Tct p.A868S NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 868 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) AGATTCCGAGCCAAGTGGACC 0.368000 13 44 2.68362e-12 3.72521e-12 1 1 0 PRPF40B 25766 broad.mit.edu 37 12 50029039 50029039 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:50029039C>A ENST00000261897.1 + 12 1626 c.1075C>A c.(1075-1077)Cgc>Agc p.R359S PRPF40B_ENST00000548825.2_Missense_Mutation_p.R387S|PRPF40B_ENST00000380281.1_Missense_Mutation_p.R365S Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 365 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CTCCACCACCCGCTACCGGTC 0.592000 27 49 3.17567e-06 3.77111e-06 1 1 0 DISP2 85455 broad.mit.edu 37 15 40661172 40661172 + Silent SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr15:40661172G>T ENST00000267889.3 + 8 2946 c.2859G>T c.(2857-2859)ctG>ctT p.L953L RP11-64K12.4_ENST00000558421.1_RNA NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 953 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) GTCTAGAGCTGTATAGCCTGC 0.627000 13 83 0.0202918 0.0211257 1 1 0 KLHL28 54813 broad.mit.edu 37 14 45414812 45414812 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:45414812G>A ENST00000396128.4 - 2 439 c.320C>T c.(319-321)tCt>tTt p.S107F KLHL28_ENST00000355081.2_Missense_Mutation_p.S121F NM_017658.3 NP_060128.2 Q9NXS3 KLH28_HUMAN kelch-like family member 28 107 breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TGGCAGGAGAGATTCAACTGT 0.413000 12 147 0 0 1 0 0 SLC4A10 57282 broad.mit.edu 37 2 162719544 162719544 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:162719544G>T ENST00000375514.5 + 7 1058 c.771G>T c.(769-771)caG>caT p.Q257H SLC4A10_ENST00000535165.1_Missense_Mutation_p.Q246H|SLC4A10_ENST00000421911.1_Missense_Mutation_p.Q246H|SLC4A10_ENST00000415876.2_Missense_Mutation_p.Q246H|SLC4A10_ENST00000446997.1_Missense_Mutation_p.Q246H|SLC4A10_ENST00000272716.5_Missense_Mutation_p.Q246H|SLC4A10_ENST00000493021.1_3'UTR NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 246 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GCAAGAAACAGTCAGAACCAA 0.363000 9 43 2.74318e-10 3.70634e-10 1 1 0 CLDN7 1366 broad.mit.edu 37 17 7163726 7163726 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr17:7163726G>A ENST00000360325.7 - 4 1037 c.603C>T c.(601-603)taC>taT p.Y201Y CLDN7_ENST00000397317.4_Silent_p.Y201Y|RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000538261.3_3'UTR NM_001307.5 NP_001298.3 O95471 CLD7_HUMAN claudin 7 201 calcium-independent cell-cell adhesion integral to membrane|lateral plasma membrane|tight junction identical protein binding|structural molecule activity kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 6 TGGACTTAGGGTAAGAGCGGG 0.592000 11 84 0 0 1 0 0 KLHL28 54813 broad.mit.edu 37 14 45414803 45414803 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:45414803G>A ENST00000396128.4 - 2 448 c.329C>T c.(328-330)cCa>cTa p.P110L KLHL28_ENST00000355081.2_Missense_Mutation_p.P124L NM_017658.3 NP_060128.2 Q9NXS3 KLH28_HUMAN kelch-like family member 28 110 breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 GTTTGCTGCTGGCAGGAGAGA 0.408000 11 140 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43846373 43846373 + Missense_Mutation SNP T T G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:43846373T>G ENST00000389420.3 - 13 1885 c.1886A>C c.(1885-1887)cAt>cCt p.H629P ADAMTS20_ENST00000553158.1_Missense_Mutation_p.H629P NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 629 Cys-rich. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GATGTCCAAATGTTTACCATT 0.408000 15 37 0 0 1 0 0 SMR3A 26952 broad.mit.edu 37 4 71232466 71232466 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:71232466C>G ENST00000226460.4 + 3 256 c.160C>G c.(160-162)Cat>Gat p.H54D NM_012390.3 NP_036522.3 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3A 54 Pro-rich. extracellular region endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) TCCACCACCCCATCCTCCACC 0.572000 50 118 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53808688 53808688 + Silent SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:53808688G>T ENST00000288139.3 + 35 4363 c.4245G>T c.(4243-4245)gcG>gcT p.A1415A CACNA1D_ENST00000350061.5_Silent_p.A1395A|CACNA1D_ENST00000540742.1_Silent_p.A287A|CACNA1D_ENST00000422281.2_Silent_p.A1380A NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1395 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TTCCCCAGGCGGTGCTGCTGC 0.542000 13 50 1.37285e-15 1.94115e-15 1 1 0 HCK 3055 broad.mit.edu 37 20 30689307 30689307 + Nonsense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr20:30689307C>A ENST00000534862.1 + 14 1869 c.1506C>A c.(1504-1506)taC>taA p.Y502* HCK_ENST00000518730.1_Nonsense_Mutation_p.Y500*|HCK_ENST00000375852.2_Nonsense_Mutation_p.Y522*|HCK_ENST00000375862.2_Nonsense_Mutation_p.Y521*|HCK_ENST00000538448.1_Nonsense_Mutation_p.Y501*|HCK_ENST00000520553.1_Nonsense_Mutation_p.Y501* NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 522 Protein kinase. P -> Q (in dbSNP:rs17093828). interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AGAGCCAGTACCAACAGCAGC 0.632000 3 23 0.004672 0.00498347 1 1 0 VWF 7450 broad.mit.edu 37 12 6103686 6103686 + Silent SNP T T G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:6103686T>G ENST00000261405.5 - 36 6405 c.6151A>C c.(6151-6153)Aga>Cga p.R2051R NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2051 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TGATTGAATCTGACCTCATGC 0.473000 23 129 0 0 1 0 0 DNAJB2 3300 broad.mit.edu 37 2 220146664 220146664 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:220146664C>T ENST00000336576.5 + 5 521 c.233C>T c.(232-234)aCt>aTt p.T78I DNAJB2_ENST00000463463.1_3'UTR|DNAJB2_ENST00000392086.4_Missense_Mutation_p.T78I NM_006736.5 NP_006727.2 P25686 DNJB2_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 2 78 ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein inclusion body heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 Renal(207;0.0474) Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTTCCAGGAACTGGCCCATCT 0.622000 4 46 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 26866463 26866463 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr15:26866463G>A ENST00000541819.2 - 5 729 c.627C>T c.(625-627)ctC>ctT p.L209L GABRB3_ENST00000299267.4_Silent_p.L153L|GABRB3_ENST00000311550.5_Silent_p.L153L|GABRB3_ENST00000400188.3_Silent_p.L82L|GABRB3_ENST00000545868.1_Silent_p.L68L P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 153 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ACACAGACCTGAGCCCATACA 0.438000 13 64 0 0 1 0 0 KLHL28 54813 broad.mit.edu 37 14 45415118 45415118 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:45415118G>A ENST00000396128.4 - 2 133 c.14C>T c.(13-15)tCc>tTc p.S5F KLHL28_ENST00000355081.2_Missense_Mutation_p.S19F NM_017658.3 NP_060128.2 Q9NXS3 KLH28_HUMAN kelch-like family member 28 5 breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 GTAGGTCGGGGATGTGTGGTC 0.378000 19 91 0 0 1 0 0 CAMK4 814 broad.mit.edu 37 5 110819868 110819868 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:110819868G>C ENST00000282356.4 + 11 1524 c.1126G>C c.(1126-1128)Gag>Cag p.E376Q CAMK4_ENST00000512453.1_Missense_Mutation_p.E376Q|CAMK4_ENST00000512890.1_3'UTR NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 376 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) TCCAGAAGGAGAGAAAATTCA 0.522000 8 83 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347185 71347185 + Missense_Mutation SNP T T C rs79807294 by1000genomes TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:71347185T>C ENST00000413702.1 + 4 1012 c.724T>C c.(724-726)Tct>Cct p.S242P MUC7_ENST00000456088.1_Missense_Mutation_p.S242P|MUC7_ENST00000304887.5_Missense_Mutation_p.S242P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 242 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.592000 12 223 0 0 1 0 0 RAB3IP 117177 broad.mit.edu 37 12 70149282 70149282 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:70149282G>A ENST00000550536.1 + 2 599 c.142G>A c.(142-144)Gag>Aag p.E48K RAB3IP_ENST00000483530.2_Missense_Mutation_p.E32K|RAB3IP_ENST00000378815.6_Missense_Mutation_p.E32K|RAB3IP_ENST00000362025.5_Missense_Mutation_p.E48K|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000247833.7_Missense_Mutation_p.E32K NM_001278402.1|NM_175623.2 NP_001265331.1|NP_783322.1 Q96QF0 RAB3I_HUMAN RAB3A interacting protein 48 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) AGGAACTCAAGAGCAGACTAC 0.458000 11 244 0 0 1 0 0 ZNF563 147837 broad.mit.edu 37 19 12429554 12429554 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:12429554C>T ENST00000293725.5 - 4 1490 c.1285G>A c.(1285-1287)Gcg>Acg p.A429T NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TGAGATAACGCTTTCCCACAC 0.428000 4 149 0 0 1 0 0 FGL2 10875 broad.mit.edu 37 7 76825791 76825791 + Nonsense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:76825791G>T ENST00000248598.5 - 2 1157 c.1125C>A c.(1123-1125)taC>taA p.Y375* RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron NM_006682.2 NP_006673.1 Q14314 FGL2_HUMAN fibrinogen-like 2 375 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 AGCCTGAACTGTAGTACAGCC 0.403000 4 82 0.014758 0.0154173 1 1 0 CDH7 1005 broad.mit.edu 37 18 63526255 63526255 + Silent SNP C C T rs147764044 TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr18:63526255C>T ENST00000536984.2 + 9 2161 c.1467C>T c.(1465-1467)acC>acT p.T489T CDH7_ENST00000323011.3_Silent_p.T489T|CDH7_ENST00000397968.2_Silent_p.T489T Q9ULB5 CADH7_HUMAN cadherin 7, type 2 489 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) ATGAGACCACCGTCTGTGAAA 0.433000 8 65 0 0 1 0 0 ZNF578 147660 broad.mit.edu 37 19 53014565 53014565 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:53014565G>A ENST00000421239.2 + 6 1175 c.931G>A c.(931-933)Ggt>Agt p.G311S CTD-3099C6.5_ENST00000599143.1_RNA NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) ATGTCACACTGGTGAGAAACC 0.418000 5 83 0 0 1 0 0 CEP135 9662 broad.mit.edu 37 4 56825952 56825952 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:56825952G>T ENST00000422247.2 + 6 953 c.719G>T c.(718-720)tGc>tTc p.C240F CEP135_ENST00000257287.4_Intron Q66GS9 CP135_HUMAN centrosomal protein 135kDa 446 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) TTATTTACTTGCATAGTAGGG 0.363000 9 27 5.4927e-09 7.07535e-09 1 1 0 ZNF487 642819 broad.mit.edu 37 10 43971290 43971290 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:43971290C>T ENST00000437590.2 + 2 259 c.32C>T c.(31-33)tCa>tTa p.S11L ZNF487_ENST00000431662.1_Missense_Mutation_p.S75L CTCCTCCTCTCAGTGGGTAAG 0.458000 4 17 0 0 1 0 0 ALS2CL 259173 broad.mit.edu 37 3 46712527 46712527 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:46712527C>T ENST00000318962.4 - 26 2892 c.2809G>A c.(2809-2811)Gac>Aac p.D937N ALS2CL_ENST00000415953.1_Missense_Mutation_p.D937N|ALS2CL_ENST00000383742.3_Missense_Mutation_p.D284N NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 937 VPS9. endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) AGCCTCATGTCTTCTTTCTGG 0.592000 4 143 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202891 140202891 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:140202891G>T ENST00000529859.1 + 1 1531 c.1531G>T c.(1531-1533)Gcg>Tcg p.A511S PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A511S|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A511S|PCDHA1_ENST00000394633.3_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCGGTGCACGCGGAGAGCGG 0.706000 13 120 1.05317e-09 1.37409e-09 1 1 0 EYA1 2138 broad.mit.edu 37 8 72211347 72211347 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr8:72211347G>T ENST00000340726.3 - 9 1400 c.761C>A c.(760-762)gCc>gAc p.A254D EYA1_ENST00000303824.7_Missense_Mutation_p.A248D|EYA1_ENST00000388740.3_Missense_Mutation_p.A221D|EYA1_ENST00000388742.4_Missense_Mutation_p.A254D|EYA1_ENST00000388741.2_Missense_Mutation_p.A220D|EYA1_ENST00000419131.1_Missense_Mutation_p.A249D|EYA1_ENST00000388743.2_Missense_Mutation_p.A253D NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 254 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) CTGGTAAGTGGCATTGGTGGA 0.483000 10 232 4.36969e-10 5.87781e-10 1 1 0 ZNF208 7757 broad.mit.edu 37 19 22155891 22155891 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:22155891C>A ENST00000397126.4 - 4 2093 c.1945G>T c.(1945-1947)Gtc>Ttc p.V649F ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) AGGGTTGAGACCTTAATAAAG 0.388000 27 71 1.77063e-15 2.492e-15 1 1 0 B3GAT2 135152 broad.mit.edu 37 6 71665781 71665781 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:71665781C>A ENST00000230053.6 - 1 960 c.352G>T c.(352-354)Gac>Tac p.D118Y NM_080742.2 NP_542780.1 Q9NPZ5 B3GA2_HUMAN beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) 118 carbohydrate biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 GCCGCCGCGTCCTCCACCAGG 0.731000 5 31 0.000602214 0.000656176 1 1 0 SLITRK3 22865 broad.mit.edu 37 3 164908563 164908563 + Missense_Mutation SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:164908563A>T ENST00000475390.1 - 2 499 c.56T>A c.(55-57)cTt>cAt p.L19H SLITRK3_ENST00000241274.3_Missense_Mutation_p.L19H O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 19 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TGTGCTTAGAAGAATTATCCA 0.418000 HNSCC(40;0.11) 24 44 0 0 1 0 0 IL23A 51561 broad.mit.edu 37 12 56733603 56733603 + Silent SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:56733603C>T ENST00000228534.4 + 3 556 c.390C>T c.(388-390)ggC>ggT p.G130G NM_016584.2 NP_057668.1 Q9NPF7 IL23A_HUMAN interleukin 23, alpha subunit p19 130 defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling interleukin-23 complex cytokine activity kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 5 CCCTACTGGGCCTCAGCCAAC 0.542000 10 88 0 0 1 0 0 NCAPG2 54892 broad.mit.edu 37 7 158449054 158449054 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:158449054G>A ENST00000409339.3 - 19 2399 c.2286C>T c.(2284-2286)gtC>gtT p.V762V NCAPG2_ENST00000541468.1_Silent_p.V263V|NCAPG2_ENST00000449727.2_Silent_p.V762V|NCAPG2_ENST00000275830.10_Silent_p.V554V|NCAPG2_ENST00000356309.3_Silent_p.V762V|NCAPG2_ENST00000409423.1_Silent_p.V762V Q86XI2 CNDG2_HUMAN non-SMC condensin II complex, subunit G2 762 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) ACTCAATGTAGACCAATGCCA 0.453000 9 75 0 0 1 0 0 ZNF512B 57473 broad.mit.edu 37 20 62592756 62592756 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr20:62592756G>T ENST00000450537.1 - 16 2393 c.2333C>A c.(2332-2334)gCc>gAc p.A778D ZNF512B_ENST00000369888.1_Missense_Mutation_p.A778D|ZNF512B_ENST00000217130.3_Missense_Mutation_p.A778D Q96KM6 Z512B_HUMAN zinc finger protein 512B 778 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TGCCAGGTGGGCCCCCTGCAA 0.597000 13 229 9.31168e-06 1.09719e-05 1 1 0 KLHL28 54813 broad.mit.edu 37 14 45414807 45414807 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:45414807G>A ENST00000396128.4 - 2 444 c.325C>T c.(325-327)Ctg>Ttg p.L109L KLHL28_ENST00000355081.2_Silent_p.L123L NM_017658.3 NP_060128.2 Q9NXS3 KLH28_HUMAN kelch-like family member 28 109 breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 GCTGCTGGCAGGAGAGATTCA 0.418000 12 145 0 0 1 0 0 NCBP1 4686 broad.mit.edu 37 9 100433388 100433388 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:100433388G>T ENST00000375147.3 + 23 2536 c.2280G>T c.(2278-2280)caG>caT p.Q760H NM_002486.4 NP_002477.1 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 760 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4) 19 Acute lymphoblastic leukemia(62;0.158) TAATCCAGCAGTACATGGTGA 0.483000 9 72 1.61879e-10 2.19693e-10 1 1 0 UBQLN1 29979 broad.mit.edu 37 9 86294696 86294696 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:86294696C>T ENST00000376395.4 - 4 1228 c.705G>A c.(703-705)atG>atA p.M235I UBQLN1_ENST00000257468.7_Missense_Mutation_p.M235I NM_013438.4|NM_053067.2 NP_038466.2|NP_444295.1 Q9UMX0 UBQL1_HUMAN ubiquilin 1 235 apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1) 27 ATACTTGTCTCATTATATCTG 0.323000 11 54 0 0 1 0 0 FZD4 8322 broad.mit.edu 37 11 86662523 86662523 + Silent SNP T T G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:86662523T>G ENST00000531380.1 - 2 1580 c.1275A>C c.(1273-1275)acA>acC p.T425T PRSS23_ENST00000533902.2_3'UTR|PRSS23_ENST00000531521.1_3'UTR NM_012193.3 NP_036325.2 Q9ULV1 FZD4_HUMAN frizzled family receptor 4 425 canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1) 21 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TGTCTGTCTTTGTCCCATCCT 0.413000 27 109 0 0 1 0 0 NCOA2 10499 broad.mit.edu 37 8 71068640 71068640 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr8:71068640G>C ENST00000452400.2 - 11 2141 c.1960C>G c.(1960-1962)Ccc>Gcc p.P654A NCOA2_ENST00000524223.1_5'UTR NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 654 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AAGGGCGAGGGCTCCATCTGA 0.547000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 38 61 0 0 1 0 0 FMN1 342184 broad.mit.edu 37 15 33359339 33359339 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr15:33359339C>A ENST00000334528.9 - 1 746 c.747G>T c.(745-747)caG>caT p.Q249H FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.Q249H|FMN1_ENST00000559047.1_Intron NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 374 Microtubule-binding (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CACTCGAATTCTGGTTTGTTA 0.512000 11 89 2.27111e-07 2.78394e-07 1 1 0 IP6K1 9807 broad.mit.edu 37 3 49764843 49764843 + Silent SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:49764843A>T ENST00000321599.4 - 6 1339 c.1038T>A c.(1036-1038)gcT>gcA p.A346A IP6K1_ENST00000395238.1_Silent_p.A181A|IP6K1_ENST00000468463.1_3'UTR|IP6K1_ENST00000460540.1_Silent_p.A181A NM_001242829.1|NM_153273.3 NP_001229758.1|NP_695005.1 Q92551 IP6K1_HUMAN inositol hexakisphosphate kinase 1 346 phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 15 GGCAGGACTCAGCCCGGCACT 0.627000 10 37 0 0 1 0 0 FOXQ1 94234 broad.mit.edu 37 6 1313369 1313369 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:1313369G>A ENST00000296839.2 + 1 695 c.430G>A c.(430-432)Gag>Aag p.E144K NM_033260.3 NP_150285.3 Q9C009 FOXQ1_HUMAN forkhead box Q1 144 DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding lung(1)|urinary_tract(1) 2 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) GACGCTGGCGGAGATCAACGA 0.642000 6 49 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55493791 55493791 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:55493791C>A ENST00000543010.1 + 6 868 c.725C>A c.(724-726)gCg>gAg p.A242E NLRP2_ENST00000391721.4_Missense_Mutation_p.A218E|NLRP2_ENST00000448584.2_Missense_Mutation_p.A242E|NLRP2_ENST00000339757.7_Missense_Mutation_p.A220E|NLRP2_ENST00000263437.6_Missense_Mutation_p.A239E|NLRP2_ENST00000538819.1_Missense_Mutation_p.A218E|NLRP2_ENST00000427260.2_Missense_Mutation_p.A219E|NLRP2_ENST00000537859.1_Missense_Mutation_p.A220E NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 242 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding p.A242V(3) large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TTCAAATATGCGTTCTACCTC 0.552000 13 9 0.000151284 0.000171606 1 1 0 KIR3DL1 3811 broad.mit.edu 37 19 55341578 55341578 + Nonsense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:55341578G>T ENST00000391728.4 + 9 1216 c.1183G>T c.(1183-1185)Gag>Tag p.E395* KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Nonsense_Mutation_p.E300*|KIR3DL1_ENST00000538269.1_Nonsense_Mutation_p.E395*|KIR3DL1_ENST00000541392.1_Nonsense_Mutation_p.E378*|KIR3DL1_ENST00000326542.7_Nonsense_Mutation_p.E378* NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) AGACCCTGAGGAGGTGACATA 0.512000 42 254 8.72198e-27 1.27475e-26 1 1 0 KRT40 125115 broad.mit.edu 37 17 39135199 39135199 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr17:39135199G>A ENST00000377755.4 - 6 1087 c.1053C>T c.(1051-1053)atC>atT p.I351I KRT40_ENST00000398486.2_Silent_p.I351I Q6A162 K1C40_HUMAN keratin 40 351 Coil 2.|Rod. intermediate filament structural molecule activity endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) CCAGGTTATCGATCAGACACT 0.592000 4 152 0 0 1 0 0 LCN1 3933 broad.mit.edu 37 9 138413352 138413352 + Silent SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:138413352C>G ENST00000263598.2 + 1 69 c.9C>G c.(7-9)ccC>ccG p.P3P LCN1_ENST00000371781.3_Silent_p.P3P NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3 NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1 P31025 LCN1_HUMAN lipocalin 1 3 proteolysis|response to stimulus|sensory perception of taste extracellular region cysteine-type endopeptidase inhibitor activity|transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5) 13 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155) AGATGAAGCCCCTGCTCCTGG 0.652000 6 20 0 0 1 0 0 RPS6 6194 broad.mit.edu 37 9 19379600 19379600 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:19379600G>A ENST00000380394.4 - 2 81 c.23C>T c.(22-24)cCa>cTa p.P8L RPS6_ENST00000315377.4_5'UTR|RPS6_ENST00000380384.1_5'UTR|RPS6_ENST00000380381.3_Missense_Mutation_p.P8L NM_001010.2 NP_001001.2 P62753 RS6_HUMAN ribosomal protein S6 8 endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding endometrium(3)|lung(2)|ovary(1)|urinary_tract(1) 7 Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255) Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234) GCCAGTGGCTGGGAAGGAGAT 0.443000 5 118 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4566498 4566498 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:4566498C>G ENST00000360213.1 + 1 78 c.78C>G c.(76-78)caC>caG p.H26Q NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H26H(2) endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) AGTCCCTACACGTCTGGCTCT 0.537000 4 86 0 0 1 0 0 PRKG1 5592 broad.mit.edu 37 10 52912944 52912944 + Missense_Mutation SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:52912944A>T ENST00000373980.4 + 2 749 c.332A>T c.(331-333)gAa>gTa p.E111V PRKG1_ENST00000373985.1_Missense_Mutation_p.E84V|PRKG1_ENST00000401604.2_Missense_Mutation_p.E96V NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 96 actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) CTTATAAAGGAAGCTATCCTT 0.453000 44 103 0 0 1 0 0 SNAP25 6616 broad.mit.edu 37 20 10273857 10273857 + Missense_Mutation SNP T T A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr20:10273857T>A ENST00000254976.2 + 5 423 c.212T>A c.(211-213)aTg>aAg p.M71K SNAP25_ENST00000304886.2_Intron|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA NM_130811.2 NP_570824.1 P60880 SNP25_HUMAN synaptosomal-associated protein, 25kDa 71 Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1. energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 18 Botulinum Toxin Type A(DB00083) AATAAGGACATGAAAGAAGCA 0.438000 19 74 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179474087 179474087 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:179474087G>T ENST00000589042.1 - 273 52174 c.51950C>A c.(51949-51951)cCt>cAt p.P17317H TTN_ENST00000591111.1_Missense_Mutation_p.P15676H|TTN_ENST00000342175.6_Missense_Mutation_p.P8444H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P14749H|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P8252H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P8377H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15676 Fibronectin type-III 25. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGTGTCAGAGGCAGGACAAA 0.448000 8 42 9.70103e-10 1.27667e-09 1 1 0 PRSS3P2 154754 broad.mit.edu 37 7 142481342 142481342 + RNA SNP G G C rs146962136 by1000genomes TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:142481342G>C ENST00000603901.1 + 0 416 NR_001296.3 GGCACCGAGTGCCTTATCTCC 0.557000 4 12 0 0 1 0 0 CPSF4 10898 broad.mit.edu 37 7 99051639 99051639 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:99051639G>A ENST00000292476.5 + 7 631 c.621G>A c.(619-621)acG>acA p.T207T CPSF4_ENST00000451876.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000441580.1_Intron|CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000436336.2_Intron|ATP5J2_ENST00000466753.1_Intron|PTCD1_ENST00000555673.1_Intron O95639 CPSF4_HUMAN cleavage and polyadenylation specific factor 4, 30kDa 207 modification by virus of host mRNA processing|mRNA processing|viral infectious cycle mRNA cleavage and polyadenylation specificity factor complex RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5) 14 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TCCAGTTAACGAGTCAGAACT 0.537000 9 290 0 0 1 0 0 SEC24C 9632 broad.mit.edu 37 10 75510968 75510968 + Missense_Mutation SNP A A C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:75510968A>C ENST00000339365.2 + 4 437 c.275A>C c.(274-276)cAg>cCg p.Q92P SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.Q92P|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000411652.2_Intron NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 92 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) GGAGATGTACAGAATGGGCCA 0.542000 4 44 0 0 1 0 0 OR5I1 10798 broad.mit.edu 37 11 55703101 55703101 + Missense_Mutation SNP A A C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:55703101A>C ENST00000301532.3 - 1 775 c.776T>G c.(775-777)tTt>tGt p.F259C NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TGAGTAAATAAAGAGGAGAGT 0.433000 5 29 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117335702 117335702 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:117335702G>A ENST00000321322.6 - 17 3402 c.3401C>T c.(3400-3402)aCg>aTg p.T1134M DSCAML1_ENST00000527706.1_Missense_Mutation_p.T864M NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1074 Fibronectin type-III 3. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGAGGGCCCCGTGCCAGCCCG 0.622000 10 73 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366612 248366612 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:248366612G>T ENST00000456743.1 + 1 281 c.243G>T c.(241-243)atG>atT p.M81I NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TACCCAAGATGGCCTTCAACT 0.512000 138 314 6.86218e-66 1.01761e-65 1 1 0 THSD7B 80731 broad.mit.edu 37 2 137814712 137814712 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:137814712C>G ENST00000409968.1 + 3 1040 c.862C>G c.(862-864)Cat>Gat p.H288D THSD7B_ENST00000413152.2_Missense_Mutation_p.H257D|THSD7B_ENST00000272643.3_Missense_Mutation_p.H288D|THSD7B_ENST00000543459.1_Missense_Mutation_p.H147D thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CAAAGCACATCATCATTCGAA 0.383000 7 45 0 0 1 0 0 GPRC5A 9052 broad.mit.edu 37 12 13061538 13061538 + Silent SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:13061538C>T ENST00000014914.5 + 2 1245 c.355C>T c.(355-357)Ctg>Ttg p.L119L GPRC5A_ENST00000542056.1_Intron NM_003979.3 NP_003970.1 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, member A 119 cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) TGCTGTCAGTCTGACCAAGCT 0.567000 6 259 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55755468 55755468 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:55755468G>T ENST00000373965.2 - 22 3224 c.2830C>A c.(2830-2832)Ccg>Acg p.P944T PCDH15_ENST00000437009.1_Missense_Mutation_p.P866T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.P937T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.P548T|PCDH15_ENST00000361849.3_Missense_Mutation_p.P937T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P915T|PCDH15_ENST00000414778.1_Missense_Mutation_p.P942T|PCDH15_ENST00000373955.1_Missense_Mutation_p.P937T|PCDH15_ENST00000395432.2_Missense_Mutation_p.P900T|PCDH15_ENST00000320301.6_Missense_Mutation_p.P937T|PCDH15_ENST00000395445.1_Missense_Mutation_p.P944T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P937T NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 937 Cadherin 9. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACTGCATCCGGAGCCACCATC 0.398000 HNSCC(58;0.16) 12 87 1.08611e-07 1.34218e-07 1 1 0 ASB10 136371 broad.mit.edu 37 7 150883746 150883746 + Splice_Site SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:150883746C>A ENST00000422024.1 - 2 577 c.451_splice c.e2-1 p.R151_splice ASB10_ENST00000377867.3_Splice_Site_p.G91_splice|ASB10_ENST00000275838.1_Splice_Site_p.R106_splice|ASB10_ENST00000420175.2_Splice_Site_p.R106_splice|ASB10_ENST00000434669.1_Splice_Site_p.R151_splice NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 106 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGACCAGAGTCCTAGGGAGGG 0.647000 4 19 0.184627 0.186467 1 1 0 ATP2B1 490 broad.mit.edu 37 12 90017984 90017984 + Silent SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:90017984C>A ENST00000428670.3 - 9 1776 c.1320G>T c.(1318-1320)acG>acT p.T440T ATP2B1_ENST00000393164.2_Silent_p.T183T|ATP2B1_ENST00000359142.3_Silent_p.T440T|ATP2B1_ENST00000261173.2_Silent_p.T440T|ATP2B1_ENST00000348959.3_Silent_p.T440T P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 440 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 CCAGTGAGATCGTGACTGCAA 0.378000 3 37 1 1 1 1 0 MTMR11 10903 broad.mit.edu 37 1 149900782 149900782 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:149900782G>A ENST00000369140.3 - 17 2085 c.1900C>T c.(1900-1902)Ccc>Tcc p.P634S MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000439741.2_3'UTR|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_3'UTR NM_181873.3 NP_870988.2 A4FU01 MTMRB_HUMAN myotubularin related protein 11 0 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) ATCCAGAAGGGATGGGATTGG 0.388000 6 65 0 0 1 0 0 PTCH1 5727 broad.mit.edu 37 9 98220516 98220516 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:98220516C>T ENST00000430669.2 - 18 3334 c.2749G>A c.(2749-2751)Gac>Aac p.D917N PTCH1_ENST00000429896.2_Missense_Mutation_p.D832N|PTCH1_ENST00000421141.1_Missense_Mutation_p.D832N|PTCH1_ENST00000437951.1_Missense_Mutation_p.D917N|PTCH1_ENST00000331920.6_Missense_Mutation_p.D983N|PTCH1_ENST00000375274.2_Missense_Mutation_p.D982N|PTCH1_ENST00000418258.1_Missense_Mutation_p.D832N Q13635 PTC1_HUMAN patched 1 983 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.I963fs*2(1) NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) TCTGAGGTGTCCCGCAAGCCG 0.567000 5 22 0 0 1 0 0 PIGW 284098 broad.mit.edu 37 17 34894132 34894132 + Silent SNP T T A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr17:34894132T>A ENST00000592983.1 + 2 1762 c.1182T>A c.(1180-1182)atT>atA p.I394I PIGW_ENST00000328396.2_Silent_p.I394I|MYO19_ENST00000590081.1_Intron Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan anchor biosynthesis, class W 394 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane O-acyltransferase activity breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GTGATATAATTTTGAGTTTTG 0.343000 10 53 0 0 1 0 0 MIR509-3 100126337 broad.mit.edu 37 X 146341182 146341182 + RNA SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chrX:146341182A>T ENST00000390725.1 - 0 62 NR_030629.1 GCAGTACTCTACCCACAGACG 0.458000 11 96 0 0 1 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55063124 55063124 + RNA SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:55063124G>T ENST00000526016.1 - 0 513 NR_038174.2 GGCATCTTCTGATATTCAGCT 0.378000 7 16 1.58986e-06 1.91793e-06 1 1 0 ANKRD50 57182 broad.mit.edu 37 4 125590612 125590612 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:125590612C>G ENST00000504087.1 - 4 4857 c.3820G>C c.(3820-3822)Gaa>Caa p.E1274Q ANKRD50_ENST00000515641.1_Missense_Mutation_p.E1095Q NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1274 Ser-rich. NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 GCAGAATTTTCTGATTTCCCC 0.388000 54 217 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216380727 216380727 + Silent SNP A A C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:216380727A>C ENST00000366943.2 - 16 3590 c.3204T>G c.(3202-3204)tcT>tcG p.S1068S USH2A_ENST00000366942.3_Silent_p.S1068S|USH2A_ENST00000307340.3_Silent_p.S1068S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1068 Fibronectin type-III 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GATTGATAGCAGAAGAACTTT 0.418000 HNSCC(13;0.011) 7 120 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23509169 23509169 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:23509169G>T ENST00000296682.3 + 2 209 c.27G>T c.(25-27)gaG>gaT p.E9D NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 9 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CCCAAGAGGAGAGCCCAGAAG 0.567000 HNSCC(3;0.000094) 15 38 1.50039e-11 2.05459e-11 1 1 0 DKK2 27123 broad.mit.edu 37 4 107845352 107845352 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:107845352C>G ENST00000285311.3 - 4 1244 c.539G>C c.(538-540)gGa>gCa p.G180A DKK2_ENST00000513208.1_Missense_Mutation_p.G80A|DKK2_ENST00000510463.1_Missense_Mutation_p.G134A NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 180 multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) GCAGGGGTCTCCTTCATGCCC 0.423000 3 31 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55136267 55136267 + Missense_Mutation SNP T T A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:55136267T>A ENST00000314706.3 + 1 908 c.908T>A c.(907-909)cTa>cAa p.L303Q NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 ACTGTAGTTCTAACTTTTATA 0.383000 54 216 0 0 1 0 0 LCE3E 353145 broad.mit.edu 37 1 152538434 152538434 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:152538434C>A ENST00000368789.1 - 2 306 c.251G>T c.(250-252)tGc>tTc p.C84F NM_178435.2 NP_848522.1 Q5T5B0 LCE3E_HUMAN late cornified envelope 3E 84 keratinization lung(6)|ovary(1) 7 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153) ACCGTGGCAGCAGCCAGAGCC 0.617000 36 129 1.57019e-19 2.2516e-19 1 1 0 NKAIN2 154215 broad.mit.edu 37 6 124979407 124979407 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:124979407G>C ENST00000368417.1 + 4 409 c.349G>C c.(349-351)Gtg>Ctg p.V117L NKAIN2_ENST00000368416.1_Missense_Mutation_p.V117L|NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Missense_Mutation_p.V102L NM_001040214.1 NP_001035304.1 Q5VXU1 NKAI2_HUMAN Na+/K+ transporting ATPase interacting 2 117 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) AGGATGTACGGTGACGTCAGT 0.493000 8 73 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17531109 17531109 + Missense_Mutation SNP T T G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:17531109T>G ENST00000005226.7 - 18 1806 c.1807A>C c.(1807-1809)Att>Ctt p.I603L USH1C_ENST00000529563.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 0 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 GGGATGGGAATGGGGGGTGGA 0.662000 5 17 0 0 1 0 0 PNPT1 87178 broad.mit.edu 37 2 55874559 55874559 + Missense_Mutation SNP C C G rs146571352 byFrequency TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:55874559C>G ENST00000447944.2 - 19 1611 c.1525G>C c.(1525-1527)Gta>Cta p.V509L NM_033109.3 NP_149100.2 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 509 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CCTATTGCTACGCCTGCAACA 0.373000 13 83 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710575 140710575 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:140710575C>G ENST00000517417.1 + 1 324 c.324C>G c.(322-324)atC>atG p.I108M PCDHGA1_ENST00000378105.3_Missense_Mutation_p.I108M NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTTTAATATCCTTGTTGAGG 0.443000 19 144 0 0 1 0 0 ERCC4 2072 broad.mit.edu 37 16 14015970 14015970 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr16:14015970G>T ENST00000311895.7 + 2 299 c.290G>T c.(289-291)cGc>cTc p.R97L ERCC4_ENST00000575156.1_Missense_Mutation_p.R97L NM_005236.2 NP_005227.1 Q92889 XPF_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 4 97 double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 AGCAACAGTCGCTATGAAGTT 0.373000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 6 39 2.0095e-06 2.40507e-06 1 1 0 MUC5AC 4586 broad.mit.edu 37 11 1155162 1155162 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:1155162C>A ENST00000356191.2 + 3 170 c.170C>A c.(169-171)gCg>gAg p.A57E mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) CTCCGTGGGGCGACTGTCTTC 0.672000 6 23 0.000157383 0.000176548 1 1 0 LHFP 10186 broad.mit.edu 37 13 40175151 40175151 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr13:40175151C>T ENST00000379589.3 - 2 665 c.203G>A c.(202-204)tGt>tAt p.C68Y NM_005780.2 NP_005771.1 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner 68 integral to membrane DNA binding HMGA2/LHFP(2) breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) ATAGCGCCCACATTCCTCCAC 0.602000 T HMGA2 lipoma 45 160 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45633573 45633573 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:45633573G>T ENST00000267430.5 + 10 1678 c.1593G>T c.(1591-1593)caG>caT p.Q531H FANCM_ENST00000556036.1_Missense_Mutation_p.Q531H|FANCM_ENST00000542564.2_Missense_Mutation_p.Q505H NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 531 Helicase C-terminal. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TAGTGAAACAGTTTCGTGACG 0.353000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 23 68 2.44723e-14 3.42838e-14 1 1 0 CTSA 5476 broad.mit.edu 37 20 44527020 44527020 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr20:44527020G>T ENST00000372484.3 + 15 1710 c.1428G>T c.(1426-1428)atG>atT p.M476I CTSA_ENST00000372459.2_Missense_Mutation_p.M458I|CTSA_ENST00000354880.5_Missense_Mutation_p.M459I|CTSA_ENST00000191018.5_Missense_Mutation_p.M458I NM_000308.2|NM_001127695.1 NP_000299.2|NP_001121167.1 P10619 PPGB_HUMAN cathepsin A 458 intracellular protein transport|proteolysis endoplasmic reticulum|lysosome|nucleus enzyme activator activity|protein binding|serine-type carboxypeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) CCGGCCACATGGTTCCCACCG 0.592000 5 51 1.23904e-05 1.44872e-05 1 1 0 ALDH6A1 4329 broad.mit.edu 37 14 74533589 74533589 + Splice_Site SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:74533589C>T ENST00000553458.1 - 9 1141 c.1042_splice c.e9-1 p.G348_splice AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Splice_Site_p.G335_splice|ALDH6A1_ENST00000555126.1_Splice_Site_p.G65_splice|CCDC176_ENST00000553773.1_Intron NM_001278593.1|NM_005589.2 NP_001265522.1|NP_005580.1 Q02252 MMSA_HUMAN aldehyde dehydrogenase 6 family, member A1 348 mitochondrial matrix|nucleus fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3) 21 BRCA - Breast invasive adenocarcinoma(234;0.00354) NADH(DB00157) AGGCTGATCTCCTGTAAAACA 0.478000 10 23 0 0 1 0 0 PLEKHA2 59339 broad.mit.edu 37 8 38810885 38810885 + Splice_Site SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr8:38810885G>T ENST00000420274.1 + 9 1007 c.773_splice c.e9+1 p.G258_splice PLEKHA2_ENST00000521746.1_Intron|PLEKHA2_ENST00000388745.4_3'UTR NM_021623.1 NP_067636.1 Q9HB19 PKHA2_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 258 PH 2. positive regulation of cell-matrix adhesion cytoplasm|nucleus|plasma membrane|protein complex fibronectin binding|laminin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 13 all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235) GTCAAGTCTGGGTAATTGTGT 0.428000 12 141 1.05317e-09 1.37409e-09 1 1 0 BMP4 652 broad.mit.edu 37 14 54417079 54417079 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:54417079G>A ENST00000245451.4 - 4 1291 c.898C>T c.(898-900)Cgg>Tgg p.R300W BMP4_ENST00000559087.1_Missense_Mutation_p.R300W|BMP4_ENST00000558984.1_Missense_Mutation_p.R300W|BMP4_ENST00000417573.1_Missense_Mutation_p.R300W NM_001202.3 NP_001193.2 P12644 BMP4_HUMAN bone morphogenetic protein 4 300 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1) 19 TTCCTGGCCCGCTGTGAGTGA 0.627000 3 44 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77672295 77672295 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr13:77672295C>A ENST00000407578.2 - 56 9260 c.8994G>T c.(8992-8994)agG>agT p.R2998S MYCBP2_ENST00000544440.2_Missense_Mutation_p.R2960S|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R2960S|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000360084.5_Missense_Mutation_p.R483S NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2960 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) CTTTTTTGGGCCTGGTGTGTC 0.418000 5 126 0.184627 0.186467 1 1 0 FST 10468 broad.mit.edu 37 5 52779494 52779494 + Silent SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:52779494A>G ENST00000396947.3 + 3 604 c.438A>G c.(436-438)ctA>ctG p.L146L FST_ENST00000256759.3_Silent_p.L146L NM_006350.3 NP_006341.1 P19883 FST_HUMAN follistatin 146 Kazal-like 1. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1) 15 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) GTGCACTCCTAAAGGCAAGAT 0.542000 9 46 0 0 1 0 0 D2HGDH 728294 broad.mit.edu 37 2 242690764 242690764 + Silent SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:242690764G>C ENST00000321264.4 + 8 1310 c.1101G>C c.(1099-1101)gtG>gtC p.V367V D2HGDH_ENST00000403782.1_Silent_p.V233V|D2HGDH_ENST00000486953.1_Intron NM_152783.3 NP_689996.4 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase 367 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) CCGGCCTGGTGACCGATGGGA 0.627000 7 36 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 26825499 26825499 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr15:26825499G>T ENST00000541819.2 - 7 919 c.817C>A c.(817-819)Cgt>Agt p.R273S GABRB3_ENST00000299267.4_Missense_Mutation_p.R217S|GABRB3_ENST00000311550.5_Missense_Mutation_p.R217S|GABRB3_ENST00000400188.3_Missense_Mutation_p.R146S|GABRB3_ENST00000545868.1_Missense_Mutation_p.R132S P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 217 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GAGACCAGACGGTGCTCCACG 0.562000 15 85 5.03518e-11 6.86411e-11 1 1 0 STAB2 55576 broad.mit.edu 37 12 104106154 104106154 + Silent SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:104106154C>A ENST00000388887.2 + 41 4548 c.4344C>A c.(4342-4344)acC>acA p.T1448T NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1448 EGF-like 11. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GCTGCCTCACCAACTCAGATG 0.522000 11 103 6.40141e-05 7.3159e-05 1 1 0 ITGB6 3694 broad.mit.edu 37 2 161025799 161025799 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:161025799T>C ENST00000283249.2 - 7 1178 c.941A>G c.(940-942)cAa>cGa p.Q314R ITGB6_ENST00000409967.2_Missense_Mutation_p.Q314R|ITGB6_ENST00000428609.2_Missense_Mutation_p.Q272R|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.Q314R P18564 ITB6_HUMAN integrin, beta 6 314 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 ATCAATGAGTTGTCCAATTGT 0.274000 15 95 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248344224 248344224 + Nonsense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:248344224G>T ENST00000359682.2 + 1 937 c.937G>T c.(937-939)Gag>Tag p.E313* NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 313 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GTCTGAGAGTGAGTTACCTCA 0.388000 24 263 1.85244e-09 2.40659e-09 1 1 0 NAGK 55577 broad.mit.edu 37 2 71299832 71299832 + Silent SNP C C T rs150661812 TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:71299832C>T ENST00000418807.3 + 4 428 c.264C>T c.(262-264)tcC>tcT p.S88S NAGK_ENST00000455662.2_Silent_p.S185S|NAGK_ENST00000244204.5_Silent_p.S139S|NAGK_ENST00000428360.2_3'UTR Q9UJ70 NAGK_HUMAN N-acetylglucosamine kinase 139 N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process ATP binding|N-acetylglucosamine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1) 18 N-Acetyl-D-glucosamine(DB00141) CTGATGGCTCCGAGAGTGGCT 0.602000 4 51 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179403902 179403902 + Silent SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:179403902C>T ENST00000589042.1 - 353 98984 c.98760G>A c.(98758-98760)cgG>cgA p.R32920R TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.R31279R|TTN_ENST00000342175.6_Silent_p.R24047R|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.R30352R|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.R23855R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.R23980R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31279 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATCTTTGGGCCGGGACCAGG 0.473000 7 52 0 0 1 0 0 CKAP5 9793 broad.mit.edu 37 11 46831310 46831310 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:46831310C>A ENST00000529230.1 - 6 791 c.745G>T c.(745-747)Ggt>Tgt p.G249C CKAP5_ENST00000415402.1_Missense_Mutation_p.G249C|CKAP5_ENST00000312055.5_Missense_Mutation_p.G249C|CKAP5_ENST00000354558.3_Missense_Mutation_p.G249C Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 249 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 GCATCTCCACCAGCAGACTGT 0.428000 42 218 1.93748e-29 2.85919e-29 1 1 0 HUWE1 10075 broad.mit.edu 37 X 53612061 53612061 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chrX:53612061T>C ENST00000342160.3 - 39 5369 c.4912A>G c.(4912-4914)Att>Gtt p.I1638V HUWE1_ENST00000262854.6_Missense_Mutation_p.I1638V|HUWE1_ENST00000218328.8_Missense_Mutation_p.I1638V Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1638 WWE. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GCAGAATCAATAGTGCTATTG 0.473000 24 95 0 0 1 0 0 MIA2 117153 broad.mit.edu 37 14 39721990 39721990 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:39721990G>A ENST00000280082.3 + 5 1805 c.1606G>A c.(1606-1608)Gaa>Aaa p.E536K RP11-407N17.3_ENST00000553728.1_Intron NM_054024.3 NP_473365.3 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 145 extracellular region NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 31 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) GAGAATTCACGAAGAAGTATA 0.378000 10 141 0 0 1 0 0 OR52A5 390054 broad.mit.edu 37 11 5153137 5153137 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:5153137C>T ENST00000307388.1 - 1 735 c.736G>A c.(736-738)Gcc>Acc p.A246T NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A246T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) CAAATGTGGGCAATGCATGTA 0.398000 18 66 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146536856 146536856 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:146536856G>C ENST00000361727.3 + 3 778 c.262G>C c.(262-264)Gac>Cac p.D88H NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 88 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.D88N(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GCTTCAGGTTGACTTTGGCAA 0.483000 HNSCC(39;0.1) 10 47 0 0 1 0 0 ADH1A 124 broad.mit.edu 37 4 100208053 100208053 + Silent SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:100208053G>T ENST00000209668.2 - 3 326 c.213C>A c.(211-213)gcC>gcA p.A71A RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide 71 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) CCACGATGCCGGCTGCCTCAT 0.507000 37 174 4.92203e-23 7.15931e-23 1 1 0 NMBR 4829 broad.mit.edu 37 6 142399902 142399902 + Silent SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:142399902G>T ENST00000258042.1 - 2 701 c.561C>A c.(559-561)atC>atA p.I187I NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 187 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) CCAAGCTACTGATGCGAGCCA 0.488000 8 165 0.00448238 0.004815 1 1 0 GRXCR1 389207 broad.mit.edu 37 4 42895397 42895397 + Silent SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:42895397G>T ENST00000399770.2 + 1 114 c.114G>T c.(112-114)ccG>ccT p.P38P NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 38 P -> L (in DFNB25). cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 ATGGGCAACCGTCAGGCTCTC 0.517000 18 180 2.94398e-08 3.71357e-08 1 1 0 CUBN 8029 broad.mit.edu 37 10 17110211 17110211 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:17110211G>T ENST00000377833.4 - 21 2925 c.2860C>A c.(2860-2862)Cac>Aac p.H954N NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 954 CUB 5. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTGATACCGTGGGGGTAGACA 0.368000 16 185 5.01169e-05 5.74926e-05 1 1 0 AGBL2 79841 broad.mit.edu 37 11 47681733 47681733 + Missense_Mutation SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:47681733A>G ENST00000525123.1 - 19 2986 c.2701T>C c.(2701-2703)Tac>Cac p.Y901H AGBL2_ENST00000298861.4_Missense_Mutation_p.Y901H|AGBL2_ENST00000357610.3_Missense_Mutation_p.Y903H NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 901 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 ACCTACGGGTATGTGTATATG 0.512000 19 63 0 0 1 0 0 ZNF317 57693 broad.mit.edu 37 19 9271460 9271460 + Missense_Mutation SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:9271460A>G ENST00000247956.6 + 7 1444 c.1139A>G c.(1138-1140)cAc>cGc p.H380R ZNF317_ENST00000360385.3_Missense_Mutation_p.H348R NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 380 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 TTTAATTTGCACAAGAAGAAC 0.522000 8 11 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038164 75038164 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:75038164C>T ENST00000326665.5 - 14 3448 c.3230G>A c.(3229-3231)aGa>aAa p.R1077K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1077 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CACCTCTTCTCTCTCAGAGTC 0.408000 6 168 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76470800 76470800 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr8:76470800C>T ENST00000396423.2 + 7 875 c.751C>T c.(751-753)Cgt>Tgt p.R251C HNF4G_ENST00000354370.1_Missense_Mutation_p.R214C NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 214 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) TGAGATTAGCCGTGTGGCCAA 0.378000 24 756 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46657740 46657740 + Silent SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:46657740C>A ENST00000544460.1 + 1 2129 c.1875C>A c.(1873-1875)ctC>ctA p.L625L TDRD6_ENST00000316081.6_Silent_p.L625L NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 625 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) AGACTGTGCTCCACAAAGAAT 0.393000 9 25 0.307466 0.309502 1 1 0 EPPK1 83481 broad.mit.edu 37 8 144947419 144947419 + Translation_Start_Site SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr8:144947419C>A ENST00000525985.1 - 2 74 c.3G>T c.(1-3)atG>atT p.M1I P58107 EPIPL_HUMAN epiplakin 1 1 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGTGGCCACTCATCACACACG 0.647000 6 34 0.0215528 0.0223619 1 1 0 SGOL1 151648 broad.mit.edu 37 3 20215786 20215786 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:20215786C>T ENST00000412997.1 - 6 1588 c.1237G>A c.(1237-1239)Gat>Aat p.D413N SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000412868.1_Missense_Mutation_p.D413N|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000263753.4_Missense_Mutation_p.D413N|SGOL1_ENST00000437051.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000417364.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000421451.1_Missense_Mutation_p.D413N NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 413 attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 TCTTTTTCATCTGTGTATTTC 0.408000 29 109 0 0 1 0 0 LST3 0 broad.mit.edu 37 12 21196312 21196312 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:21196312T>C ENST00000381541.3 + 7 837 c.772T>C c.(772-774)Tgg>Cgg p.W258R SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.W258R|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.W211R GGTTGGAGCTTGGTGGCTTGG 0.373000 31 153 0 0 1 0 0 ZNF829 374899 broad.mit.edu 37 19 37406057 37406057 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:37406057G>A ENST00000520965.1 - 2 322 c.256C>T c.(256-258)Cct>Tct p.P86S ZNF829_ENST00000391711.3_Missense_Mutation_p.P5S NM_001171979.1 NP_001165450.1 Q3KNS6 ZN829_HUMAN zinc finger protein 829 5 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAGATCAGAGGAGAATGGGGC 0.498000 6 41 0 0 1 0 0 PYGO2 90780 broad.mit.edu 37 1 154931485 154931485 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:154931485C>T ENST00000368457.2 - 3 1162 c.991G>A c.(991-993)Ggt>Agt p.G331S PYGO2_ENST00000368456.1_Missense_Mutation_p.G294S NM_138300.3 NP_612157.1 Q9BRQ0 PYGO2_HUMAN pygopus family PHD finger 2 331 Wnt receptor signaling pathway nucleus protein binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1) 10 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CGACAGGCACCACATGGGTAC 0.642000 7 51 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248308491 248308491 + Silent SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:248308491C>G ENST00000366476.1 + 1 42 c.42C>G c.(40-42)ctC>ctG p.L14L NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) ACTTCATCCTCCTGGGAATCT 0.438000 36 288 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152319779 152319779 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:152319779G>C ENST00000243326.4 + 29 4228 c.3745G>C c.(3745-3747)Gtg>Ctg p.V1249L RIF1_ENST00000444746.2_Missense_Mutation_p.V1249L|RIF1_ENST00000453091.2_Missense_Mutation_p.V1249L|RIF1_ENST00000430328.2_Missense_Mutation_p.V1249L|RIF1_ENST00000428287.2_Missense_Mutation_p.V1249L Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 1249 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) AACTGTTACAGTGAAAAATAA 0.333000 10 75 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 26825521 26825521 + Silent SNP C C A rs146431931 TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr15:26825521C>A ENST00000541819.2 - 7 897 c.795G>T c.(793-795)ccG>ccT p.P265P GABRB3_ENST00000299267.4_Silent_p.P209P|GABRB3_ENST00000311550.5_Silent_p.P209P|GABRB3_ENST00000400188.3_Silent_p.P138P|GABRB3_ENST00000545868.1_Silent_p.P124P P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 209 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TGGAGAACTGCGGGAGCTCAA 0.562000 15 82 0.000219431 0.000245247 1 1 0 CR1 1378 broad.mit.edu 37 1 207790041 207790041 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:207790041G>A ENST00000367049.4 + 41 6783 c.6783G>A c.(6781-6783)atG>atA p.M2261I CR1_ENST00000367051.1_Missense_Mutation_p.M1811I|CR1_ENST00000367052.1_Missense_Mutation_p.M1811I|CR1_ENST00000400960.2_Missense_Mutation_p.M1811I|CR1_ENST00000367053.1_Missense_Mutation_p.M1811I NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1811 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 ACAGAGGGATGACCTTCAACC 0.522000 84 127 0 0 1 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136310829 136310829 + Missense_Mutation SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:136310829A>G ENST00000371929.3 + 21 3064 c.2620A>G c.(2620-2622)Acc>Gcc p.T874A ADAMTS13_ENST00000355699.2_Missense_Mutation_p.T874A|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.T843A|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 874 cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GCTGGATGCCACCTCTGCAGG 0.647000 12 19 0 0 1 0 0 SMIM7 79086 broad.mit.edu 37 19 16764904 16764904 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:16764904T>C ENST00000487416.2 - 4 200 c.154A>G c.(154-156)Aga>Gga p.R52G CTC-429P9.4_ENST00000593962.1_5'UTR|SMIM7_ENST00000597711.1_Intron|SMIM7_ENST00000358726.6_Missense_Mutation_p.R52G|CTC-429P9.4_ENST00000600705.1_Intron|SMIM7_ENST00000397349.2_5'UTR NM_024104.3 NP_077009.2 small integral membrane protein 7 CGAAAGTATCTGAGGCTCAGC 0.483000 3 47 0 0 1 0 0 ECM2 1842 broad.mit.edu 37 9 95264875 95264875 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:95264875G>A ENST00000344604.5 - 8 1673 c.1524C>T c.(1522-1524)acC>acT p.T508T ECM2_ENST00000444490.2_Silent_p.T486T|CENPP_ENST00000375587.3_Intron NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 508 cell-matrix adhesion integrin binding p.T486T(1)|p.T508T(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 TGATCTTTCTGGTATGATTGA 0.274000 6 25 0 0 1 0 0 KLHL28 54813 broad.mit.edu 37 14 45415125 45415125 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:45415125G>A ENST00000396128.4 - 2 126 c.7C>T c.(7-9)Cac>Tac p.H3Y KLHL28_ENST00000355081.2_Missense_Mutation_p.H17Y NM_017658.3 NP_060128.2 Q9NXS3 KLH28_HUMAN kelch-like family member 28 3 breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 GGGGATGTGTGGTCCATCTAC 0.373000 19 87 0 0 1 0 0 ANO9 338440 broad.mit.edu 37 11 418979 418979 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:418979C>A ENST00000332826.6 - 21 2029 c.1945G>T c.(1945-1947)Ggc>Tgc p.G649C NM_001012302.2 NP_001012302.2 A1A5B4 ANO9_HUMAN anoctamin 9 649 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 TTGACGTAGCCCTTGAGGCAG 0.617000 7 148 8.12818e-05 9.25456e-05 1 1 0 ACTA1 58 broad.mit.edu 37 1 229567839 229567839 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:229567839G>A ENST00000366684.3 - 5 812 c.710C>T c.(709-711)tCc>tTc p.S237F ACTA1_ENST00000366683.2_Missense_Mutation_p.S149F NM_001100.3 NP_001091.1 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 237 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) CTTTTCCAGGGAGGAGGAGGA 0.637000 3 24 0 0 1 0 0 NMRK2 27231 broad.mit.edu 37 19 3942134 3942134 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:3942134G>A ENST00000168977.2 + 8 846 c.556G>A c.(556-558)Gac>Aac p.D186N NMRK2_ENST00000593949.1_Missense_Mutation_p.D191N|NMRK2_ENST00000599576.1_3'UTR NM_170678.2 NP_733778.1 nicotinamide riboside kinase 2 AGTCCTGGAAGACATTCAGAA 0.637000 4 58 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73815767 73815767 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chrX:73815767C>T ENST00000332687.6 - 2 264 c.46G>A c.(46-48)Gca>Aca p.A16T RLIM_ENST00000349225.2_Missense_Mutation_p.A16T NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 16 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CGCTGTGCTGCAGACTGATCA 0.378000 9 31 0 0 1 0 0 ACKR3 57007 broad.mit.edu 37 2 237489437 237489437 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:237489437G>C ENST00000272928.3 + 2 639 c.329G>C c.(328-330)tGg>tCg p.W110S NM_020311.2 NP_064707.1 atypical chemokine receptor 3 CACAACCAGTGGCCCATGGGC 0.562000 11 124 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59835440 59835440 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:59835440G>T ENST00000395125.1 + 25 3123 c.3100G>T c.(3100-3102)Gat>Tat p.D1034Y DAAM1_ENST00000351081.1_Missense_Mutation_p.D1034Y|DAAM1_ENST00000360909.3_Missense_Mutation_p.D1024Y|DAAM1_ENST00000553966.1_3'UTR NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 1034 DAD. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) CGGAGAGTTTGATGACCTTGT 0.388000 4 67 0.00909568 0.00956777 1 1 0 COL5A2 1290 broad.mit.edu 37 2 189918906 189918906 + Silent SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:189918906C>T ENST00000374866.3 - 36 2698 c.2424G>A c.(2422-2424)ccG>ccA p.P808P NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 808 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TAGGACCTGCCGGACCTGGAG 0.398000 4 99 0 0 1 0 0 DGKH 160851 broad.mit.edu 37 13 42795487 42795487 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr13:42795487T>C ENST00000379274.2 + 29 3551 c.3122T>C c.(3121-3123)aTc>aCc p.I1041T DGKH_ENST00000540693.1_Intron|DGKH_ENST00000538674.1_Intron|DGKH_ENST00000337343.4_Missense_Mutation_p.I1177T|DGKH_ENST00000498255.2_Intron|DGKH_ENST00000536612.1_Missense_Mutation_p.I1041T|DGKH_ENST00000261491.4_Intron Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 1177 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) CGTCATGACATCAGAGGGGCT 0.413000 13 115 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179554545 179554545 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:179554545G>T ENST00000589042.1 - 122 32065 c.31841C>A c.(31840-31842)gCt>gAt p.A10614D TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A10297D|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A9370D|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10297 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTACCTTTAGCTGGGGGAGC 0.368000 16 142 6.94344e-10 9.25792e-10 1 1 0 TMEM139 135932 broad.mit.edu 37 7 142983074 142983074 + Silent SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:142983074G>C ENST00000359333.3 + 2 537 c.24G>C c.(22-24)ggG>ggC p.G8G AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000471161.1_Intron|TMEM139_ENST00000409102.1_Silent_p.G8G|TMEM139_ENST00000410004.1_Silent_p.G8G|TMEM139_ENST00000409244.1_Silent_p.G8G|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000409541.1_Silent_p.G8G NM_001242775.1 NP_001229704.1 Q8IV31 TM139_HUMAN transmembrane protein 139 8 integral to membrane endometrium(1)|lung(4)|ovary(1)|prostate(1) 7 Melanoma(164;0.059) ACTTACTGGGGAGACTGGAGA 0.552000 8 54 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131792846 131792846 + Silent SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr8:131792846G>T ENST00000286355.5 - 18 5638 c.3546C>A c.(3544-3546)ccC>ccA p.P1182P ADCY8_ENST00000377928.3_Silent_p.P1051P NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 1182 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GTCTTCTTGGGGGCAAGATGA 0.512000 HNSCC(32;0.087) 6 133 3.59834e-05 4.14354e-05 1 1 0 KANK1 23189 broad.mit.edu 37 9 732477 732477 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:732477G>A ENST00000382303.1 + 10 3757 c.3105G>A c.(3103-3105)gaG>gaA p.E1035E KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000489369.1_3'UTR NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1035 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TTGAAGAAGAGGAGGAGGAGG 0.468000 4 117 0 0 1 0 0 ME1 4199 broad.mit.edu 37 6 83963432 83963432 + Missense_Mutation SNP A A C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:83963432A>C ENST00000369705.3 - 7 846 c.730T>G c.(730-732)Ttt>Gtt p.F244V ME1_ENST00000541327.1_Missense_Mutation_p.F78V|ME1_ENST00000543031.1_Missense_Mutation_p.F169V NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 244 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) AAATCTTCAAACTGAATAAGG 0.308000 14 95 0 0 1 0 0 ELAVL3 1995 broad.mit.edu 37 19 11565613 11565613 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:11565613C>A ENST00000359227.3 - 7 1256 c.832G>T c.(832-834)Ggc>Tgc p.G278C ELAVL3_ENST00000438662.2_Missense_Mutation_p.G271C NM_001420.3|NM_032281.2 NP_001411.2|NP_115657.2 Q14576 ELAV3_HUMAN ELAV like neuron-specific RNA binding protein 3 278 cell differentiation|nervous system development AU-rich element binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 cccgccgcgccccccgACAGG 0.682000 39 43 9.85521e-28 1.44733e-27 1 1 0 GOLGA4 2803 broad.mit.edu 37 3 37379191 37379191 + Missense_Mutation SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:37379191A>T ENST00000361924.2 + 19 6736 c.6362A>T c.(6361-6363)gAt>gTt p.D2121V GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.D2136V NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 2121 Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 TTAATCAGTGATTCGAAATTG 0.378000 16 47 0 0 1 0 0 ADCYAP1 116 broad.mit.edu 37 18 905469 905469 + Missense_Mutation SNP G G T rs8192594 TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr18:905469G>T ENST00000579794.1 + 1 360 c.82G>T c.(82-84)Gcc>Tcc p.A28S RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.2_ENST00000581719.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA|ADCYAP1_ENST00000450565.3_Missense_Mutation_p.A28S NM_001117.3 NP_001108.2 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) 28 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 CTCACCTGCCGCCGCCGGACT 0.632000 13 89 2.27111e-07 2.78394e-07 1 1 0 C9orf24 84688 broad.mit.edu 37 9 34379708 34379708 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:34379708G>C ENST00000297623.2 - 6 923 c.725C>G c.(724-726)cCg>cGg p.P242R C9orf24_ENST00000379133.3_Missense_Mutation_p.P107R|C9orf24_ENST00000379126.3_Missense_Mutation_p.R56G|C9orf24_ENST00000481295.1_5'UTR|C9orf24_ENST00000379124.1_Missense_Mutation_p.R109G|C9orf24_ENST00000379127.1_Missense_Mutation_p.R109G NM_032596.3 NP_115985.2 Q8NCR6 CI024_HUMAN chromosome 9 open reading frame 24 242 endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.123) ATTCCGGGCCGGTGCTCGTAG 0.567000 OREG0019150 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 96 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 662435 662435 + Missense_Mutation SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:662435A>T ENST00000266383.5 + 14 1359 c.1346A>T c.(1345-1347)aAt>aTt p.N449I NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 449 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) AACAACCAGAATGCCAGGATG 0.547000 28 188 0 0 1 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862809 10862809 + RNA SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr21:10862809C>A ENST00000559480.1 + 0 105 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 AGCCTGGGGCCTCAGTGAAGG 0.562000 9 151 0.000274275 0.000299927 1 1 0 PROX1 5629 broad.mit.edu 37 1 214169983 214169983 + Silent SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:214169983T>C ENST00000366958.4 + 2 713 c.105T>C c.(103-105)gcT>gcC p.A35A PROX1_ENST00000261454.4_Silent_p.A35A|PROX1_ENST00000435016.1_Silent_p.A35A|PROX1_ENST00000498508.2_Silent_p.A35A NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 35 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CATTTTTTGCTAAGGCAAGAG 0.478000 6 82 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93757446 93757446 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:93757446G>C ENST00000265990.6 + 25 3906 c.3598G>C c.(3598-3600)Gac>Cac p.D1200H BTAF1_ENST00000544642.1_Missense_Mutation_p.D28H NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1200 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) TGATCAGACAGACAGTGTGAG 0.378000 11 86 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57481088 57481088 + Silent SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:57481088G>T ENST00000371236.2 - 12 1175 c.912C>A c.(910-912)ggC>ggA p.G304G DAB1_ENST00000439789.2_Silent_p.G218G|DAB1_ENST00000414851.2_Silent_p.G286G|DAB1_ENST00000371234.4_Silent_p.G304G|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Silent_p.G302G|DAB1_ENST00000371231.1_Silent_p.G337G O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 337 cell differentiation|nervous system development p.G304G(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GGAGGACAGCGCCCATTGCAA 0.572000 3 22 0.115264 0.118379 1 1 0 OR2L2 26246 broad.mit.edu 37 1 248202245 248202245 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:248202245C>G ENST00000366479.2 + 1 772 c.676C>G c.(676-678)Cgc>Ggc p.R226G OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R226C(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TGCTGTCTACCGCATGCACTC 0.488000 23 191 0 0 1 0 0 CLDN12 9069 broad.mit.edu 37 7 90042108 90042108 + Missense_Mutation SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:90042108A>T ENST00000535571.1 + 2 427 c.118A>T c.(118-120)Aca>Tca p.T40S CLDN12_ENST00000287916.4_Missense_Mutation_p.T40S|CLDN12_ENST00000394605.2_Missense_Mutation_p.T40S NM_001185072.2 NP_001172001.1 P56749 CLD12_HUMAN claudin 12 40 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2) 15 ACGATTGATCACATTCAACAG 0.517000 4 43 0 0 1 0 0 CDS1 1040 broad.mit.edu 37 4 85566417 85566417 + Silent SNP A A C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:85566417A>C ENST00000295887.5 + 12 1618 c.1195A>C c.(1195-1197)Aga>Cga p.R399R NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 399 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) GATAATGGACAGATTTGATTG 0.299000 31 75 0 0 1 0 0 IGF2 3481 broad.mit.edu 37 11 2154748 2154748 + Splice_Site SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:2154748G>A ENST00000416167.2 - 3 1471 c.306_splice c.e3+1 p.P102_splice IGF2_ENST00000434045.2_Splice_Site_p.P158_splice|IGF2_ENST00000300632.5_Splice_Site_p.P102_splice|IGF2_ENST00000418738.2_Splice_Site_p.P102_splice|IGF2_ENST00000381406.4_Splice_Site_p.P105_splice|IGF2_ENST00000381389.1_Splice_Site_p.P102_splice|IGF2_ENST00000337883.6_Splice_Site_p.P102_splice|IGF2_ENST00000381395.1_Splice_Site_p.P102_splice|IGF2_ENST00000381392.1_Splice_Site_p.P105_splice P01344 IGF2_HUMAN insulin-like growth factor 2 (somatomedin A) 102 glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 6 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) GACCCTCACCGGAAGCACGGT 0.642000 4 27 0 0 1 0 0 ANO7 50636 broad.mit.edu 37 2 242138778 242138778 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:242138778C>A ENST00000274979.8 + 5 622 c.519C>A c.(517-519)agC>agA p.S173R ANO7_ENST00000402430.3_Missense_Mutation_p.S172R NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 173 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 CCCTCCTCAGCGCCTCCTGGG 0.652000 7 70 5.18039e-06 6.12778e-06 1 1 0 SPATA31C1 441452 broad.mit.edu 37 9 90535394 90535394 + RNA SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:90535394C>T ENST00000602681.1 + 0 1298 ACCTCAGTCTCCTCCCTAAGT 0.612000 21 193 0 0 1 0 0 SIAE 54414 broad.mit.edu 37 11 124509640 124509640 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:124509640T>C ENST00000263593.3 - 8 1262 c.1090A>G c.(1090-1092)Atg>Gtg p.M364V SIAE_ENST00000545756.1_Missense_Mutation_p.M329V Q9HAT2 SIAE_HUMAN sialic acid acetylesterase 364 extracellular region|lysosome carboxylesterase activity|sialate O-acetylesterase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 15 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243) CAGAGATCCATAGCTACAGCC 0.468000 14 131 0 0 1 0 0 REG3A 5068 broad.mit.edu 37 2 79385459 79385459 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:79385459G>C ENST00000393878.1 - 3 580 c.326C>G c.(325-327)cCc>cGc p.P109R REG3A_ENST00000409839.3_Missense_Mutation_p.P109R|REG3A_ENST00000305165.2_Missense_Mutation_p.P109R NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 109 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 CACCTGTGTGGGGTCATGGAG 0.567000 5 65 0 0 1 0 0 TICRR 90381 broad.mit.edu 37 15 90168095 90168095 + Silent SNP T T A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr15:90168095T>A ENST00000268138.7 + 20 4659 c.4554T>A c.(4552-4554)ccT>ccA p.P1518P KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.P1517P TOPBP1-interacting checkpoint and replication regulator CTGGCTCTCCTCTGATGCCTT 0.577000 57 54 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_Silent_p.Q204Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 3 32 0 0 1 0 0 GMPR 2766 broad.mit.edu 37 6 16254832 16254832 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:16254832G>A ENST00000259727.4 + 4 445 c.331G>A c.(331-333)Gaa>Aaa p.E111K NM_006877.3 NP_006868.3 P36959 GMPR1_HUMAN guanosine monophosphate reductase 111 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold cytosol GMP reductase activity|metal ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 20 Breast(50;0.0427)|Ovarian(93;0.103) all_hematologic(90;0.0895) GAATGATCTGGAAAAGATGAC 0.453000 53 91 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907309 153907309 + Silent SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:153907309C>T ENST00000361217.4 - 18 3118 c.2700G>A c.(2698-2700)caG>caA p.Q900Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 900 Gln-rich. p.Q788Q(1)|p.Q900Q(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgttgctgctgctgct 0.642000 4 69 0 0 1 0 0 HIST1H2BO 8348 broad.mit.edu 37 6 27861512 27861512 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:27861512C>A ENST00000303806.4 + 1 310 c.272C>A c.(271-273)aCc>aAc p.T91N NM_003527.4 NP_003518.2 P23527 H2B1O_HUMAN histone cluster 1, H2bo 91 nucleosome assembly nucleosome|nucleus DNA binding TCGACCATCACCTCCAGGGAG 0.627000 10 115 9.70103e-10 1.27667e-09 1 1 0 RBM5 10181 broad.mit.edu 37 3 50147085 50147085 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:50147085G>A ENST00000347869.3 + 15 1417 c.1242G>A c.(1240-1242)caG>caA p.Q414Q RBM5_ENST00000441812.2_3'UTR NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 414 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGAGTCCTCAGCTGTATAATC 0.488000 56 131 0 0 1 0 0 SCML4 256380 broad.mit.edu 37 6 108066250 108066250 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:108066250G>T ENST00000369022.2 - 4 620 c.411C>A c.(409-411)agC>agA p.S137R SCML4_ENST00000369021.3_Missense_Mutation_p.S166R|SCML4_ENST00000369020.3_Missense_Mutation_p.S195R Q8N228 SCML4_HUMAN sex comb on midleg-like 4 (Drosophila) 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1) 25 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) CGCACAGGAGGCTTCGGCACA 0.592000 9 46 0.000274275 0.000299927 1 1 0 ATF2 1386 broad.mit.edu 37 2 175939413 175939413 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:175939413G>A ENST00000264110.2 - 14 1740 c.1442C>T c.(1441-1443)gCg>gTg p.A481V ATF2_ENST00000392543.2_Missense_Mutation_p.A102V|ATF2_ENST00000409437.1_Missense_Mutation_p.A365V|ATF2_ENST00000538946.1_3'UTR|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000392544.1_Missense_Mutation_p.A481V|ATF2_ENST00000409499.1_Missense_Mutation_p.A120V|ATF2_ENST00000345739.5_Missense_Mutation_p.A423V|ATF2_ENST00000426833.3_Missense_Mutation_p.A463V|ATF2_ENST00000409635.1_Missense_Mutation_p.A423V NM_001256090.1|NM_001256091.1|NM_001880.3 NP_001243019.1|NP_001243020.1|NP_001871.2 P15336 ATF2_HUMAN activating transcription factor 2 481 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.125) ACTCTGGTCCGCCATCTGGGT 0.498000 3 42 0 0 1 0 0 MYB 4602 broad.mit.edu 37 6 135515583 135515583 + Silent SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:135515583A>T ENST00000341911.5 + 8 1132 c.933A>T c.(931-933)ggA>ggT p.G311G MYB_ENST00000531845.1_3'UTR|MYB_ENST00000367814.4_Silent_p.G311G|MYB_ENST00000534121.1_Silent_p.G311G|MYB_ENST00000316528.8_Silent_p.G311G|MYB_ENST00000420123.2_Silent_p.G287G|MYB_ENST00000534044.1_Silent_p.G311G|MYB_ENST00000525369.1_Silent_p.G311G|MYB_ENST00000527615.1_Silent_p.G311G|MYB_ENST00000533624.1_Intron|MYB_ENST00000442647.2_Silent_p.G311G|MYB_ENST00000528774.1_Silent_p.G311G NM_001130173.1|NM_001161656.1|NM_001161658.1 NP_001123645.1|NP_001155128.1|NP_001155130.1 P10242 MYB_HUMAN v-myb avian myeloblastosis viral oncogene homolog 311 Transcriptional activation domain. blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) AGCTAAAAGGACAGCAGGTGC 0.408000 T NFIB adenoid cystic carcinoma 4 51 0 0 1 0 0 CD1A 909 broad.mit.edu 37 1 158225793 158225793 + Splice_Site SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:158225793G>C ENST00000289429.5 + 3 858 c.e3-1 NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) CATAACCCCAGATCCTTTTGA 0.423000 5 102 0 0 1 0 0 WARS2 10352 broad.mit.edu 37 1 119575957 119575957 + Silent SNP T T A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:119575957T>A ENST00000235521.4 - 6 686 c.660A>T c.(658-660)ctA>ctT p.L220L WARS2_ENST00000537870.1_Silent_p.L126L|WARS2_ENST00000369426.5_3'UTR NM_015836.3|NM_201263.2 NP_056651.1|NP_957715.1 Q9UGM6 SYWM_HUMAN tryptophanyl tRNA synthetase 2, mitochondrial 220 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) AAGGATCACGTAGGGATTTTA 0.438000 41 152 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1018718 1018718 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:1018718G>A ENST00000421673.2 - 31 4133 c.4083C>T c.(4081-4083)ggC>ggT p.G1361G NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1361 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TTGGACGTGGGCCTGTCGTCT 0.542000 13 118 0 0 1 0 0 ATP6V1A 523 broad.mit.edu 37 3 113517288 113517288 + Nonsense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:113517288G>T ENST00000273398.3 + 12 1597 c.1489G>T c.(1489-1491)Gga>Tga p.G497* ATP6V1A_ENST00000538620.1_Nonsense_Mutation_p.G464* NM_001690.3 NP_001681.2 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A 497 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ACAGCTTGTGGGAAAGGTGAG 0.428000 12 59 1.5842e-08 2.02352e-08 1 1 0 RASGEF1A 221002 broad.mit.edu 37 10 43691988 43691988 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:43691988C>T ENST00000395809.1 - 12 3863 c.1357G>A c.(1357-1359)Gtc>Atc p.V453I RASGEF1A_ENST00000374459.1_Missense_Mutation_p.V461I|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.V453I Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 453 Ras-GEF. cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity p.V453I(1)|p.V400I(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2) 11 AAGGAGGCGACGAAGAGAGCT 0.562000 10 110 0 0 1 0 0 TYR 7299 broad.mit.edu 37 11 88911689 88911689 + Missense_Mutation SNP G G A rs61754361 TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:88911689G>A ENST00000263321.5 + 1 1070 c.568G>A c.(568-570)Ggg>Agg p.G190R TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 190 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) TGCACTGCTTGGGGGATCTGA 0.423000 13 148 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248367064 248367064 + Missense_Mutation SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:248367064A>T ENST00000456743.1 + 1 733 c.695A>T c.(694-696)gAg>gTg p.E232V NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGATCTGGAGAGGGTCGTCGC 0.448000 6 365 0 0 1 0 0 AGMAT 79814 broad.mit.edu 37 1 15905431 15905431 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:15905431C>A ENST00000375826.3 - 4 785 c.643G>T c.(643-645)Gac>Tac p.D215Y DNAJC16_ENST00000483270.1_Intron NM_024758.4 NP_079034.3 Q9BSE5 SPEB_HUMAN agmatine ureohydrolase (agmatinase) 215 putrescine biosynthetic process|spermidine biosynthetic process mitochondrion agmatinase activity|metal ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1) 12 Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649) CGCTTACAGTCCAGGAGACCC 0.627000 4 39 0.150653 0.153173 1 1 0 TTN 7273 broad.mit.edu 37 2 179439116 179439116 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:179439116G>T ENST00000589042.1 - 326 71967 c.71743C>A c.(71743-71745)Cca>Aca p.P23915T TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P22274T|TTN_ENST00000342175.6_Missense_Mutation_p.P15042T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21347T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P14850T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P14975T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22274 Ig-like 120. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTTCTGATGGCTTGCTTGGC 0.438000 10 178 1.33987e-11 1.84308e-11 1 1 0 KIAA1522 57648 broad.mit.edu 37 1 33237928 33237928 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:33237928C>T ENST00000401073.2 + 6 3218 c.3148C>T c.(3148-3150)Cct>Tct p.P1050S KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Missense_Mutation_p.P991S|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P1002S NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 991 breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CCTTACTGCTCCTCCCACCAA 0.652000 19 79 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129913773 129913773 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:129913773C>A ENST00000368654.3 - 7 1274 c.899G>T c.(898-900)gGc>gTc p.G300V MKI67_ENST00000368653.3_Intron NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 300 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CACAGCGTGGCCGCTCCCACC 0.532000 5 67 2.0095e-06 2.40507e-06 1 1 0 BCLAF1 9774 broad.mit.edu 37 6 136599520 136599520 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:136599520T>C ENST00000531224.1 - 4 751 c.499A>G c.(499-501)Aaa>Gaa p.K167E BCLAF1_ENST00000392348.2_Missense_Mutation_p.K165E|BCLAF1_ENST00000527759.1_Missense_Mutation_p.K165E|BCLAF1_ENST00000530767.1_Missense_Mutation_p.K167E|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K167E|BCLAF1_ENST00000353331.4_Missense_Mutation_p.K165E NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 167 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCAGCTTTTTTGGTTTGTTTT 0.423000 7 198 0 0 1 0 0 LOC647323 647323 broad.mit.edu 37 3 193711310 193711310 + RNA SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:193711310C>G ENST00000397645.2 - 0 75 RP11-699L21.2_ENST00000426616.1_lincRNA NR_033944.1 CTCTTTGTGTCTGCTGAGAGA 0.502000 3 24 0 0 1 0 0 IFNB1 3456 broad.mit.edu 37 9 21077496 21077496 + Nonsense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:21077496C>A ENST00000380232.2 - 1 447 c.373G>T c.(373-375)Gaa>Taa p.E125* NM_002176.2 NP_002167.1 P01574 IFNB_HUMAN interferon, beta 1, fibroblast 125 activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 12 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) TCCAGTTTTTCTTCCAGGACT 0.433000 47 156 3.19069e-20 4.59701e-20 1 1 0 ACY1 95 broad.mit.edu 37 3 52022801 52022801 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:52022801G>C ENST00000458031.2 + 16 1522 c.1291G>C c.(1291-1293)Gag>Cag p.E431Q ACY1_ENST00000476351.1_Missense_Mutation_p.E306Q|ACY1_ENST00000494103.1_Missense_Mutation_p.E269Q|ACY1_ENST00000476854.1_Missense_Mutation_p.E276Q|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.E442Q|ACY1_ENST00000404366.2_Missense_Mutation_p.E341Q Q03154 ACY1_HUMAN aminoacylase 1 341 cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) TCTGGAGCCTGAGATCATGCC 0.562000 12 328 0 0 1 0 0 KLHL28 54813 broad.mit.edu 37 14 45415021 45415021 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:45415021G>A ENST00000396128.4 - 2 230 c.111C>T c.(109-111)atC>atT p.I37I KLHL28_ENST00000355081.2_Silent_p.I51I NM_017658.3 NP_060128.2 Q9NXS3 KLH28_HUMAN kelch-like family member 28 37 BTB. breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 CTCGAAGAATGATGTCACAGA 0.443000 18 120 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168244397 168244397 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:168244397C>A ENST00000519560.1 - 8 1120 c.701G>T c.(700-702)cGg>cTg p.R234L SLIT3_ENST00000332966.8_Missense_Mutation_p.R234L|SLIT3_ENST00000404867.3_Missense_Mutation_p.R234L NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 234 LRRCT 1. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCCAACTGTCCGTCGCTGTCG 0.612000 4 60 5.9392e-07 7.22207e-07 1 1 0 ANXA7 310 broad.mit.edu 37 10 75147496 75147496 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:75147496T>C ENST00000372921.4 - 7 640 c.584A>G c.(583-585)aAt>aGt p.N195S ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Missense_Mutation_p.N65S NM_001156.3 NP_001147.1 P20073 ANXA7_HUMAN annexin A7 217 calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 26 Prostate(51;0.0119) CCTCTGATCATTGGAACGGTT 0.463000 51 148 0 0 1 0 0 PROM1 8842 broad.mit.edu 37 4 16025961 16025961 + Silent SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:16025961G>T ENST00000505450.1 - 6 1236 c.624C>A c.(622-624)gcC>gcA p.A208A PROM1_ENST00000540805.1_Silent_p.A217A|PROM1_ENST00000543373.1_Silent_p.A208A|PROM1_ENST00000510224.1_Silent_p.A217A|PROM1_ENST00000539194.1_Silent_p.A217A|PROM1_ENST00000447510.2_Silent_p.A217A|PROM1_ENST00000508167.1_Silent_p.A208A|PROM1_ENST00000502943.1_5'UTR NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 217 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 TGTTGTACTGGGCCAATATAT 0.358000 7 58 9.70103e-10 1.27667e-09 1 1 0 OR13C9 286362 broad.mit.edu 37 9 107380196 107380196 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:107380196C>G ENST00000259362.1 - 1 289 c.290G>C c.(289-291)tGt>tCt p.C97S NM_001001956.1 NP_001001956.1 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, member 9 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 CTGCACTGCACAGCCAGAAAA 0.517000 19 111 0 0 1 0 0 AMIGO3 386724 broad.mit.edu 37 3 49756821 49756821 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:49756821G>A ENST00000535833.1 - 10 3528 c.78C>T c.(76-78)ttC>ttT p.F26F RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Silent_p.F26F|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_Intron|GMPPB_ENST00000480687.1_3'UTR Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 26 LRRNT. heterophilic cell-cell adhesion integral to membrane endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CACGGGGCGGGAAACCCTCGG 0.642000 OREG0015572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 85 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190234090 190234090 + Nonsense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:190234090C>A ENST00000367462.3 - 4 754 c.523G>T c.(523-525)Gag>Tag p.E175* FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Nonsense_Mutation_p.E73*|RP11-547I7.1_ENST00000452178.1_RNA NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 175 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TGTAGCGTCTCCAGAGTGACC 0.483000 8 103 0.000157383 0.000176548 1 1 0 TMEM59L 25789 broad.mit.edu 37 19 18731311 18731311 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:18731311C>A ENST00000600490.1 + 9 1179 c.994C>A c.(994-996)Ccc>Acc p.P332T TMEM59L_ENST00000262817.3_Missense_Mutation_p.P332T Q9UK28 TM59L_HUMAN transmembrane protein 59-like 332 Golgi membrane|integral to membrane|membrane fraction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2) 13 CAGCCTACCACCCTACAAGCT 0.657000 14 56 2.31682e-05 2.68822e-05 1 1 0 SPEN 23013 broad.mit.edu 37 1 16262465 16262465 + Missense_Mutation SNP A A C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:16262465A>C ENST00000375759.3 + 11 9934 c.9730A>C c.(9730-9732)Acc>Ccc p.T3244P NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3244 Pro-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AGCTgcccccacccccacccc 0.672000 7 13 0 0 1 0 0 MED7 9443 broad.mit.edu 37 5 156566362 156566362 + Missense_Mutation SNP T T A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:156566362T>A ENST00000286317.5 - 2 462 c.81A>T c.(79-81)caA>caT p.Q27H MED7_ENST00000420343.1_Missense_Mutation_p.Q27H NM_004270.4 NP_004261.1 O43513 MED7_HUMAN mediator complex subunit 7 27 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex protein binding|transcription coactivator activity kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2) 7 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTAAGCCTTCTTGAATATTTT 0.428000 7 78 0 0 1 0 0 CTAGE4 100128553 broad.mit.edu 37 7 143882715 143882715 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:143882715C>A ENST00000486333.1 + 1 2157 c.2119C>A c.(2119-2121)Cca>Aca p.P707T NM_198495.2 NP_940897.2 Q8IX94 CTGE4_HUMAN CTAGE family, member 4 707 Pro-rich. integral to membrane endometrium(1)|ovary(2) 3 TCCATTGTTTCCAGTGGATAC 0.502000 9 359 1.08611e-07 1.34218e-07 1 1 0 GPR174 84636 broad.mit.edu 37 X 78427266 78427266 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chrX:78427266C>G ENST00000276077.1 + 1 798 c.762C>G c.(760-762)ttC>ttG p.F254L NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 254 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 CTTTAGATTTCCTGGTGAAGT 0.388000 HNSCC(63;0.18) 9 35 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6680180 6680180 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:6680180T>C ENST00000245907.6 - 36 4537 c.4445A>G c.(4444-4446)tAt>tGt p.Y1482C NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1482 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CAGGTTGTAATAGGCGTAGAC 0.498000 8 61 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33016066 33016066 + Missense_Mutation SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:33016066A>T ENST00000280979.4 + 4 2377 c.2207A>T c.(2206-2208)tAt>tTt p.Y736F AKAP6_ENST00000557272.1_Missense_Mutation_p.Y736F|AKAP6_ENST00000557354.1_Missense_Mutation_p.Y736F NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 736 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) ATGAAAAAGTATGCTGATGAG 0.443000 9 89 0 0 1 0 0 USP1 7398 broad.mit.edu 37 1 62908936 62908936 + Missense_Mutation SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:62908936A>G ENST00000339950.4 + 5 1318 c.503A>G c.(502-504)gAg>gGg p.E168G USP1_ENST00000371146.1_Missense_Mutation_p.E168G NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 168 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) TTAAATCCAGAGAAATATACT 0.368000 4 49 0 0 1 0 0 NRP1 8829 broad.mit.edu 37 10 33502610 33502610 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:33502610C>G ENST00000265371.4 - 10 1843 c.1318G>C c.(1318-1320)Gga>Cga p.G440R NRP1_ENST00000374821.5_Missense_Mutation_p.G440R|NRP1_ENST00000374822.4_Missense_Mutation_p.G440R|NRP1_ENST00000374823.5_Missense_Mutation_p.G440R|NRP1_ENST00000374867.2_Missense_Mutation_p.G440R|NRP1_ENST00000395995.1_Missense_Mutation_p.G440R|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374816.3_Missense_Mutation_p.G440R O14786 NRP1_HUMAN neuropilin 1 440 F5/8 type C 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) GAAATAAGTCCAGACACCATA 0.458000 12 82 0 0 1 0 0 CBX2 84733 broad.mit.edu 37 17 77758731 77758731 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr17:77758731C>A ENST00000310942.4 + 5 1593 c.1489C>A c.(1489-1491)Cgc>Agc p.R497S NM_005189.2 NP_005180.1 Q14781 CBX2_HUMAN chromobox homolog 2 497 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GAAGCCCACCCGCAGCCTCAT 0.622000 9 36 0.000274275 0.000299927 1 1 0 TTN 7273 broad.mit.edu 37 2 179395519 179395519 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:179395519C>T ENST00000589042.1 - 358 106047 c.105823G>A c.(105823-105825)Gag>Aag p.E35275K TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33634K|TTN_ENST00000342175.6_Missense_Mutation_p.E26402K|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32707K|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E26210K|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E26335K|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33634 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGAACTTTCTCTGTTGGTGTT 0.468000 4 44 0 0 1 0 0 STXBP5 134957 broad.mit.edu 37 6 147581767 147581767 + Silent SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:147581767C>T ENST00000367481.3 + 5 556 c.448C>T c.(448-450)Ctg>Ttg p.L150L STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000321680.6_Silent_p.L150L|STXBP5_ENST00000546097.1_Silent_p.L150L|STXBP5_ENST00000367480.3_Silent_p.L150L NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 150 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) ATTTTGCCATCTGCCTTTCCA 0.363000 4 74 0 0 1 0 0 SYCE2 256126 broad.mit.edu 37 19 13015425 13015425 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:13015425G>A ENST00000293695.7 - 3 205 c.187C>T c.(187-189)Ctg>Ttg p.L63L SYCE2_ENST00000591229.1_5'UTR NM_001105578.1 NP_001099048.1 Q6PIF2 SYCE2_HUMAN synaptonemal complex central element protein 2 63 cell division central element endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 CTTGAGTCCAGAGAGGAGAAG 0.532000 6 133 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144946569 144946569 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr8:144946569C>T ENST00000525985.1 - 2 924 c.853G>A c.(853-855)Ggc>Agc p.G285S P58107 EPIPL_HUMAN epiplakin 1 285 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCCACGCTGCCGGTACCCTCC 0.682000 5 68 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166892607 166892607 + Missense_Mutation SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:166892607A>G ENST00000423058.2 - 16 3397 c.3380T>C c.(3379-3381)tTa>tCa p.L1127S SCN1A_ENST00000409050.1_Missense_Mutation_p.L1099S|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.L1116S|SCN1A_ENST00000303395.4_Missense_Mutation_p.L1127S|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1127 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TTCCGTGTTTAAATTTTCAAA 0.338000 8 169 0 0 1 0 0 UNCX 340260 broad.mit.edu 37 7 1275566 1275566 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:1275566C>A ENST00000316333.8 + 3 660 c.549C>A c.(547-549)agC>agA p.S183R NM_001080461.1 NP_001073930.1 A6NJT0 UNC4_HUMAN UNC homeobox 183 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2)|skin(1)|upper_aerodigestive_tract(1) 4 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) CCACGTGCAGCGGCGAGCCCA 0.637000 4 20 0.00909568 0.00956777 1 1 0 ATP9A 10079 broad.mit.edu 37 20 50234086 50234086 + Silent SNP T T A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr20:50234086T>A ENST00000338821.5 - 22 2622 c.2358A>T c.(2356-2358)ggA>ggT p.G786G ATP9A_ENST00000311637.5_Silent_p.G650G|ATP9A_ENST00000402822.1_Silent_p.G665G NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 786 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CGTCATTGCCTCCGTCCCCTG 0.507000 5 36 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458039 248458039 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:248458039G>C ENST00000317996.1 - 1 841 c.842C>G c.(841-843)cCt>cGt p.P281R NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 281 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) ATTTAGTAAAGGGGTGAACAT 0.458000 4 176 0 0 1 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100649223 100649223 + Missense_Mutation SNP T T C rs76569625 TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr15:100649223T>C ENST00000268070.4 - 14 2092 c.1987A>G c.(1987-1989)Act>Gct p.T663A NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 663 Cys-rich. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CAGAGATCAGTCTCGTAGGGC 0.617000 25 65 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16967685 16967685 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:16967685C>A ENST00000377833.4 - 42 6425 c.6360G>T c.(6358-6360)tgG>tgT p.W2120C NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2120 CUB 15. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCAGGACGTGCCAAGAACAGT 0.502000 15 64 1.67942e-08 2.13616e-08 1 1 0 PRELID2 153768 broad.mit.edu 37 5 145176111 145176111 + Splice_Site SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:145176111C>A ENST00000334744.4 - 6 457 c.e6-1 PRELID2_ENST00000511435.1_Splice_Site|PRELID2_ENST00000394450.2_Splice_Site|PRELID2_ENST00000505416.1_Splice_Site|PRELID2_ENST00000358004.2_Splice_Site NM_182960.2 NP_892005.1 Q8N945 PRLD2_HUMAN PRELI domain containing 2 endometrium(2)|large_intestine(1)|lung(2)|prostate(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAACTCTGTCCTGCAAAAAAA 0.368000 10 87 1.76689e-08 2.23807e-08 1 1 0 TTN 7273 broad.mit.edu 37 2 179599266 179599266 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:179599266C>A ENST00000589042.1 - 52 15509 c.15285G>T c.(15283-15285)caG>caT p.Q5095H TTN_ENST00000591111.1_Missense_Mutation_p.Q4778H|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q3851H|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4778 Ig-like 31. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGACTTCACACTGAAGTAGAG 0.378000 14 75 3.27435e-08 4.07952e-08 1 1 0 RAI2 10742 broad.mit.edu 37 X 17820044 17820044 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chrX:17820044C>A ENST00000545871.1 - 3 547 c.87G>T c.(85-87)atG>atT p.M29I RAI2_ENST00000415486.3_Missense_Mutation_p.M29I|RAI2_ENST00000360011.1_Missense_Mutation_p.M29I|RP3-389A20.4_ENST00000509491.2_Missense_Mutation_p.M29I|RAI2_ENST00000331511.1_Missense_Mutation_p.M29I|RAI2_ENST00000451717.1_Missense_Mutation_p.M29I NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 29 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) TCAGCTGAGCCATGCCATTCT 0.567000 27 89 1.08312e-15 1.53864e-15 1 1 0 QSOX2 169714 broad.mit.edu 37 9 139110934 139110934 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:139110934G>A ENST00000358701.5 - 7 935 c.898C>T c.(898-900)Cct>Tct p.P300S NM_181701.3 NP_859052.3 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 300 cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) GGCTTTTCAGGCAAGGGAAGC 0.488000 21 30 0 0 1 0 0 EPX 8288 broad.mit.edu 37 17 56277118 56277118 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr17:56277118C>A ENST00000225371.5 + 9 1610 c.1500C>A c.(1498-1500)agC>agA p.S500R NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 500 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 TCCCACTTAGCTCTGCCTTCT 0.612000 3 53 0.115264 0.118379 1 1 0 SCN10A 6336 broad.mit.edu 37 3 38764951 38764951 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:38764951G>T ENST00000449082.2 - 18 3321 c.3322C>A c.(3322-3324)Ctg>Atg p.L1108M NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1108 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GGTTCTTCCAGGTCATCTGCC 0.557000 11 38 3.07112e-06 3.66125e-06 1 1 0 PTPN13 5783 broad.mit.edu 37 4 87694047 87694047 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:87694047C>G ENST00000436978.1 + 32 5780 c.5300C>G c.(5299-5301)aCt>aGt p.T1767S PTPN13_ENST00000511467.1_Missense_Mutation_p.T1767S|PTPN13_ENST00000427191.2_Missense_Mutation_p.T1743S|PTPN13_ENST00000316707.6_Missense_Mutation_p.T1571S|PTPN13_ENST00000411767.2_Missense_Mutation_p.T1762S NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1762 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TCTGAACCAACTAGACAAGAA 0.373000 12 38 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35770882 35770882 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:35770882T>C ENST00000187397.4 + 15 1769 c.1313T>C c.(1312-1314)gTg>gCg p.V438A ARPP21_ENST00000417925.1_Missense_Mutation_p.V404A|ARPP21_ENST00000444190.1_Missense_Mutation_p.V384A|ARPP21_ENST00000337271.5_Missense_Mutation_p.V384A|ARPP21_ENST00000458225.1_Missense_Mutation_p.V404A NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 438 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 GTCTCAGGTGTGGCAGCTGGC 0.592000 17 65 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912743 77912743 + Missense_Mutation SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chrX:77912743A>G ENST00000321110.1 - 2 1470 c.1175T>C c.(1174-1176)cTg>cCg p.L392P NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 392 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 CTTCTCTTCCAGGCTGATGCA 0.493000 15 58 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66462786 66462786 + Silent SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:66462786C>T ENST00000404260.3 + 29 8096 c.7788C>T c.(7786-7788)cgC>cgT p.R2596R MAST4_ENST00000403666.1_Silent_p.R2404R|MAST4_ENST00000403625.2_Silent_p.R2593R|MAST4_ENST00000261569.7_Silent_p.R2399R|MAST4_ENST00000405643.1_Silent_p.R2414R O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 2596 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) ACACTGACCGCCCCATCTCTC 0.587000 3 31 0 0 1 0 0 IL2RA 3559 broad.mit.edu 37 10 6067883 6067883 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:6067883C>G ENST00000379959.3 - 2 343 c.170G>C c.(169-171)aGa>aCa p.R57T IL2RA_ENST00000379954.1_Missense_Mutation_p.R57T|IL2RA_ENST00000256876.6_Missense_Mutation_p.R57T NM_000417.2 NP_000408.1 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha 57 Sushi 1. cell proliferation integral to membrane interleukin-2 receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) GCTTTTTATTCTGCGGAAACC 0.498000 4 82 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82546079 82546079 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:82546079G>T ENST00000423517.2 - 7 11560 c.11223C>A c.(11221-11223)agC>agA p.S3741R PCLO_ENST00000333891.8_Missense_Mutation_p.S3741R|PCLO_ENST00000437081.1_Missense_Mutation_p.S461R NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3672 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 TGCCCATTGTGCTGAATGTGG 0.468000 9 77 0.000274275 0.000299927 1 1 0 PCDH11X 27328 broad.mit.edu 37 X 91873812 91873812 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chrX:91873812C>T ENST00000373094.1 + 7 4762 c.3917C>T c.(3916-3918)aCc>aTc p.T1306I PCDH11X_ENST00000373088.1_Missense_Mutation_p.T1269I|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T1298I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T1288I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T1269I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T1296I NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1306 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CAGTTTTACACCATGTCTGAA 0.478000 5 200 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105439010 105439010 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:105439010C>T ENST00000264122.4 - 10 1609 c.1288G>A c.(1288-1290)Gat>Aat p.D430N CBLB_ENST00000405772.1_Missense_Mutation_p.D430N|CBLB_ENST00000403724.1_Missense_Mutation_p.D430N|CBLB_ENST00000394027.3_Missense_Mutation_p.D452N|CBLB_ENST00000545639.1_3'UTR NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 430 cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 GAGCCTTCATCTCTTGGATCA 0.483000 Mis S AML 3 20 0 0 1 0 0 RAB3IP 117177 broad.mit.edu 37 12 70150234 70150234 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:70150234G>A ENST00000550536.1 + 3 806 c.349G>A c.(349-351)Gga>Aga p.G117R RAB3IP_ENST00000483530.2_Missense_Mutation_p.G101R|RAB3IP_ENST00000378815.6_Missense_Mutation_p.G101R|RAB3IP_ENST00000362025.5_Missense_Mutation_p.G117R|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000247833.7_Missense_Mutation_p.G101R NM_001278402.1|NM_175623.2 NP_001265331.1|NP_783322.1 Q96QF0 RAB3I_HUMAN RAB3A interacting protein 117 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) AGTCACAGCTGGATTAACTAA 0.408000 17 284 0 0 1 0 0 CD81 975 broad.mit.edu 37 11 2398821 2398821 + Silent SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:2398821C>T ENST00000263645.5 + 1 298 c.42C>T c.(40-42)ctC>ctT p.L14L AC129929.5_ENST00000413483.1_RNA NM_004356.3 NP_004347.1 P60033 CD81_HUMAN CD81 molecule 14 activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor integral to plasma membrane protein binding endometrium(1)|lung(3)|skin(1) 5 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191) AGTACCTGCTCTTCGTCTTCA 0.741000 9 29 0 0 1 0 0 NPPB 4879 broad.mit.edu 37 1 11918520 11918520 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:11918520G>A ENST00000376468.3 - 2 236 c.139C>T c.(139-141)Cgc>Tgc p.R47C NM_002521.2 NP_002512.1 P16860 ANFB_HUMAN natriuretic peptide B 47 R -> H (in dbSNP:rs5229). body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation extracellular space diuretic hormone activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624) AAATGGTTGCGCTGCTCCTGC 0.637000 7 17 0 0 1 0 0 GIGYF2 26058 broad.mit.edu 37 2 233651927 233651927 + Missense_Mutation SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:233651927A>T ENST00000373566.3 + 10 863 c.666A>T c.(664-666)gaA>gaT p.E222D GIGYF2_ENST00000409196.3_Missense_Mutation_p.E200D|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E200D|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E222D|GIGYF2_ENST00000409547.1_Missense_Mutation_p.E200D|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E31D|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E222D Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 200 Arg-rich. cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TACGCTCAGAAAGTGAAAATT 0.423000 25 50 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32914937 32914937 + Missense_Mutation SNP A A G rs80359592 TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr13:32914937A>G ENST00000544455.1 + 11 6672 c.6445A>G c.(6445-6447)Att>Gtt p.I2149V BRCA2_ENST00000380152.3_Missense_Mutation_p.I2149V NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 2149 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TAATCACTCTATTAAAGTTTC 0.318000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 4 24 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11421043 11421043 + RNA SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:11421043G>A ENST00000381842.3 - 0 177 PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) GGTACGTTGGGGCTGGTTTCC 0.572000 16 220 0 0 1 0 0 C18orf54 162681 broad.mit.edu 37 18 51887198 51887198 + Missense_Mutation SNP T T A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr18:51887198T>A ENST00000300091.5 + 2 588 c.256T>A c.(256-258)Tgc>Agc p.C86S C18orf54_ENST00000382911.4_Missense_Mutation_p.C86S|C18orf54_ENST00000578138.1_Intron NM_173529.4 NP_775800.3 Q8IYD9 CR054_HUMAN chromosome 18 open reading frame 54 86 extracellular region breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186) GTCACAGTTCTGCAACTATAT 0.323000 11 100 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216160 20216160 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:20216160G>T ENST00000331723.1 + 1 574 c.574G>T c.(574-576)Gac>Tac p.D192Y NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGCCTGCATGGACACCTATGT 0.488000 8 102 3.09899e-07 3.7835e-07 1 1 0 DNAJC7 7266 broad.mit.edu 37 17 40139846 40139846 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr17:40139846C>A ENST00000457167.4 - 9 1237 c.1001G>T c.(1000-1002)aGa>aTa p.R334I DNAJC7_ENST00000426588.3_Missense_Mutation_p.R278I|DNAJC7_ENST00000316603.7_Missense_Mutation_p.R278I NM_003315.3 NP_003306.3 Q99615 DNJC7_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 7 334 chaperone cofactor-dependent protein refolding cytoplasm|cytoskeleton|nucleus heat shock protein binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1) 9 all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305) CCACTGAGCTCTTCTCAAGTA 0.493000 3 14 0.00909568 0.00956777 1 1 0 NLRP10 338322 broad.mit.edu 37 11 7981425 7981425 + Silent SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:7981425A>T ENST00000328600.2 - 2 1895 c.1734T>A c.(1732-1734)ggT>ggA p.G578G NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 578 ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCATCTGAATACCTTTTACCA 0.343000 8 33 0 0 1 0 0 RASA1 5921 broad.mit.edu 37 5 86645175 86645175 + Missense_Mutation SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:86645175A>G ENST00000456692.2 + 8 831 c.716A>G c.(715-717)tAt>tGt p.Y239C RASA1_ENST00000506290.1_Missense_Mutation_p.Y250C|RASA1_ENST00000274376.6_Missense_Mutation_p.Y416C|RASA1_ENST00000512763.1_Missense_Mutation_p.Y249C NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 416 SH2 1. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) GGCCGGTATTATAACAGGTAA 0.303000 3 68 0 0 1 0 0 IPO9 55705 broad.mit.edu 37 1 201843998 201844000 + In_Frame_Del DEL GAG GAG - TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:201843998_201844000delGAG ENST00000361565.4 + 22 2941_2943 c.2872_2874delGAG c.(2872-2874)del p.E962del NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 962 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ggaggaggaagaggaggaggagg 0.443 7 120 --- --- --- --- FAM228A 653140 broad.mit.edu 37 2 24413459 24413461 + In_Frame_Del DEL CTT CTT - TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:24413459_24413461delCTT ENST00000295150.3 + 6 666_668 c.580_582delCTT c.(580-582)del p.L194del NM_001040710.1 NP_001035800.1 family with sequence similarity 228, member A GCATGCAGGGCTTTGCAGCACCC 0.601 19 41 --- --- --- --- PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 566 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AGTGCCTCTATTTTTTTTGCA 0.428 17 234 --- --- --- --- UBA6-AS1 550112 broad.mit.edu 37 4 68632418 68632419 + RNA INS - - AT rs59536241 by1000genomes TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:68632418_68632419insAT ENST00000500538.2 + 0 1905 RP11-453E17.1_ENST00000502758.1_RNA cacacacacacaTATATATAct 0.431 3 3 --- --- --- --- NAAA 27163 broad.mit.edu 37 4 76862042 76862043 + In_Frame_Ins INS - - CAG TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:76862042_76862043insCAG ENST00000286733.4 - 1 161_162 c.60_61insCTG c.(58-63)ctccgg>ctCTGccgg p.20_21LR>LCR NAAA_ENST00000507956.1_In_Frame_Ins_p.20_21LR>LCR|NAAA_ENST00000507187.2_In_Frame_Ins_p.20_21LR>LCR|NAAA_ENST00000399497.3_In_Frame_Ins_p.20_21LR>LCR NM_014435.3 NP_055250.2 Q02083 NAAA_HUMAN N-acylethanolamine acid amidase 20 lipid metabolic process lysosome hydrolase activity endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 11 CCGGCCCCGGCCAGCAGCAGCA 0.762 4 2 --- --- --- --- UGT3A1 133688 broad.mit.edu 37 5 35954457 35954457 + Frame_Shift_Del DEL G G - TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:35954457delG ENST00000274278.3 - 7 1776 c.1419delC c.(1417-1419)ccfs p.P473fs NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 473 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGAAGGCATAGGGCTTGAGGT 0.602 13 48 --- --- --- --- T 6862 broad.mit.edu 37 6 166578310 166578310 + Frame_Shift_Del DEL C C - TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:166578310delC ENST00000296946.2 - 5 1114 c.646delG c.(646-648)ctfs p.A216fs T_ENST00000366871.3_Frame_Shift_Del_p.A216fs NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 216 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) TCAAGGAAAGCTTTTGCAAAT 0.338 Chordoma, Familial Clustering of 9 42 --- --- --- --- MNX1 3110 broad.mit.edu 37 7 156802527 156802529 + In_Frame_Del DEL GCC GCC - TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:156802527_156802529delGCC ENST00000252971.6 - 1 816_818 c.516_518delGGC c.(514-519)gct>gc p.AA172del NM_005515.3 NP_005506.3 P50219 MNX1_HUMAN motor neuron and pancreas homeobox 1 172 Poly-Ala. humoral immune response|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(4)|skin(1) 7 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGCCAGCGCAGCCGCCGCCGCCG 0.803 2 4 --- --- --- --- PXDNL 137902 broad.mit.edu 37 8 52359596 52359596 + Frame_Shift_Del DEL T T - TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr8:52359596delT ENST00000356297.4 - 12 1593 c.1493delA c.(1492-1494)agfs p.K498fs PXDNL_ENST00000543296.1_Frame_Shift_Del_p.K498fs NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 498 Ig-like C2-type 3. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CACAGACACCTTTTTCACCCC 0.448 7 323 --- --- --- --- ZNF704 619279 broad.mit.edu 37 8 81733713 81733713 + Frame_Shift_Del DEL T T - TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr8:81733713delT ENST00000327835.3 - 2 348 c.117delA c.(115-117)aafs p.K39fs NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 39 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) TCCGGCTGGCTTTTTTGGTGT 0.428 7 694 --- --- --- --- LZTS2 84445 broad.mit.edu 37 10 102763415 102763417 + In_Frame_Del DEL CCT CCT - TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:102763415_102763417delCCT ENST00000370220.1 + 2 3623_3625 c.560_562delCCT c.(559-564)gcc>g p.AS187del LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 187 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GGGGGCCCTGcctcctcctcctc 0.650 12 287 --- --- --- --- TEAD1 7003 broad.mit.edu 37 11 12903493 12903493 + Frame_Shift_Del DEL C C - TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:12903493delC ENST00000361905.4 + 8 1183 c.518delC c.(517-519)gcfs p.A173fs TEAD1_ENST00000526600.1_Frame_Shift_Del_p.A92fs|TEAD1_ENST00000527636.1_Frame_Shift_Del_p.A188fs|TEAD1_ENST00000527575.1_Frame_Shift_Del_p.A188fs|TEAD1_ENST00000361985.2_Frame_Shift_Del_p.A188fs|TEAD1_ENST00000334310.6_Frame_Shift_Del_p.A177fs NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) 188 Pro-rich.|Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) GCGGTCACAGCCCCCATTCCA 0.567 15 136 --- --- --- --- KDM4D 55693 broad.mit.edu 37 11 94731161 94731161 + Frame_Shift_Del DEL C C - TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:94731161delC ENST00000335080.5 + 3 1457 c.625delC c.(625-627)ccfs p.P209fs KDM4D_ENST00000536741.1_Frame_Shift_Del_p.P209fs NM_018039.2 NP_060509.2 Q6B0I6 KDM4D_HUMAN lysine (K)-specific demethylase 4D 209 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CCTTGGGGAGCCCAAAACTTG 0.562 23 98 --- --- --- --- NLRP2 55655 broad.mit.edu 37 19 55493982 55493982 + Frame_Shift_Del DEL G G - TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:55493982delG ENST00000543010.1 + 6 1059 c.916delG c.(916-918)ggfs p.G306fs NLRP2_ENST00000339757.7_Frame_Shift_Del_p.G284fs|NLRP2_ENST00000391721.4_Frame_Shift_Del_p.G282fs|NLRP2_ENST00000427260.2_Frame_Shift_Del_p.G283fs|NLRP2_ENST00000263437.6_Frame_Shift_Del_p.G303fs|NLRP2_ENST00000538819.1_Frame_Shift_Del_p.G282fs|NLRP2_ENST00000537859.1_Frame_Shift_Del_p.G284fs|NLRP2_ENST00000448584.2_Frame_Shift_Del_p.G306fs NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 306 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GGACATCTGCGGGGACTGGGA 0.607 26 41 --- --- --- --- MYT1 4661 broad.mit.edu 37 20 62839333 62839335 + In_Frame_Del DEL GAG GAG - TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr20:62839333_62839335delGAG ENST00000536311.1 + 7 1148_1150 c.784_786delGAG c.(784-786)del p.E273del MYT1_ENST00000328439.1_In_Frame_Del_p.E273del|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 273 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) agaggaggacgaggaggaggagg 0.596 8 30 --- --- --- ---