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 RNASE2 6036 broad.mit.edu 37 14 21424080 21424080 + Silent SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr14:21424080C>T ENST00000304625.2 + 2 240 c.150C>T c.(148-150)tgC>tgT p.C50C NM_002934.2 NP_002925.1 P10153 RNAS2_HUMAN ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) 50 chemotaxis|RNA catabolic process extracellular region|lysosome nucleic acid binding|pancreatic ribonuclease activity breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 17 all_cancers(95;0.00381) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) CCCAGCAATGCACCAATGCAA 0.438000 4 210 0 0 1 0 0 CCDC91 55297 broad.mit.edu 37 12 28458580 28458580 + Splice_Site SNP A A T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:28458580A>T ENST00000545336.1 + 7 528 c.e7-1 CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site Q7Z6B0 CCD91_HUMAN coiled-coil domain containing 91 protein transport Golgi apparatus|membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1) 22 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) GTTTTTCTTTAGTATCTGGAG 0.393000 8 465 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43323361 43323361 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr6:43323361G>A ENST00000361428.2 - 4 1788 c.1711C>T c.(1711-1713)Ccg>Tcg p.P571S ZNF318_ENST00000318149.3_Missense_Mutation_p.P571S NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 571 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) GCTGAAGACGGCAGGGAGCTT 0.478000 6 538 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36069579 36069579 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:36069579G>A ENST00000303965.4 - 33 5554 c.5065C>T c.(5065-5067)Cgg>Tgg p.R1689W NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1689 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 GTTCTTGACCGTTGTAGAACC 0.358000 4 244 0 0 1 0 0 NUCB2 4925 broad.mit.edu 37 11 17323307 17323307 + Missense_Mutation SNP A A C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:17323307A>C ENST00000529010.1 + 5 488 c.269A>C c.(268-270)aAa>aCa p.K90T NUCB2_ENST00000323688.6_Missense_Mutation_p.K90T|NUCB2_ENST00000458064.2_Missense_Mutation_p.K90T NM_005013.2 NP_005004.1 P80303 NUCB2_HUMAN nucleobindin 2 90 cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane calcium ion binding|DNA binding kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 AGGCTAAGCAAAGAACTGGAT 0.328000 4 267 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154560618 154560618 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:154560618C>T ENST00000368474.4 - 11 3201 c.3002G>A c.(3001-3003)cGc>cAc p.R1001H ADAR_ENST00000292205.5_Missense_Mutation_p.R1044H|ADAR_ENST00000368471.3_Missense_Mutation_p.R706H NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 1001 A to I editase. adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) CACCTTGGTGCGGAGCTTTCC 0.562000 7 485 0 0 1 0 0 KANSL1L 151050 broad.mit.edu 37 2 211019250 211019250 + Silent SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:211019250T>C ENST00000281772.9 - 2 320 c.57A>G c.(55-57)ccA>ccG p.P19P KANSL1L_ENST00000457374.1_Silent_p.P19P|KANSL1L_ENST00000452086.1_Silent_p.P19P|KANSL1L_ENST00000418791.1_Silent_p.P19P|KANSL1L_ENST00000429908.2_5'UTR NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 19 CCATGGTACTTGGCAAAGATG 0.433000 4 171 0 0 1 0 0 NBPF14 25832 broad.mit.edu 37 1 148012533 148012533 + Missense_Mutation SNP T T G rs144977899 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:148012533T>G ENST00000369219.1 - 12 1442 c.1426A>C c.(1426-1428)Aag>Cag p.K476Q Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 476 NBPF 5. cytoplasm p.E481D(1)|p.K476Q(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) CCAACATGCTTTTCCTCCAAT 0.448000 10 298 0 0 1 0 0 DIS3 22894 broad.mit.edu 37 13 73335578 73335578 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr13:73335578G>T ENST00000377767.4 - 19 2693 c.2593C>A c.(2593-2595)Cca>Aca p.P865T DIS3_ENST00000545453.1_Missense_Mutation_p.P703T|DIS3_ENST00000377780.4_Missense_Mutation_p.P835T NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 865 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) CCATACTTTGGAATTAATACC 0.318000 Multiple Myeloma(4;0.011) 12 66 1.36491e-13 1.58169e-13 1 1 0 RNF40 9810 broad.mit.edu 37 16 30780684 30780684 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr16:30780684G>A ENST00000324685.6 + 16 2860 c.2425G>A c.(2425-2427)Gag>Aag p.E809K RNF40_ENST00000357890.5_Missense_Mutation_p.E709K|RNF40_ENST00000563683.1_Missense_Mutation_p.E769K|RNF40_ENST00000402121.3_Missense_Mutation_p.E501K|RNF40_ENST00000567365.1_3'UTR NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586.1 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 809 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) GGAGAAGGATGAGTTGGGCGA 0.582000 6 78 0 0 1 0 0 CD8A 925 broad.mit.edu 37 2 87013077 87013077 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:87013077C>T ENST00000409511.2 - 9 1704 c.674G>A c.(673-675)gGa>gAa p.G225E CD8A_ENST00000409781.1_Missense_Mutation_p.G188E|CD8A_ENST00000283635.3_Missense_Mutation_p.G225E|CD8A_ENST00000352580.3_Missense_Mutation_p.G188E|CD8A_ENST00000538832.1_Missense_Mutation_p.G266E|CD8A_ENST00000456996.2_Missense_Mutation_p.G188E NM_001145873.1 NP_001139345.1 P01732 CD8A_HUMAN CD8a molecule 225 antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 8 GGGCTTGTCTCCCGATTTGAC 0.542000 6 150 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125850328 125850328 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:125850328C>T ENST00000393434.2 - 13 1871 c.1522G>A c.(1522-1524)Gcc>Acc p.A508T ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A518T|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A508T|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A407T|ALDH1L1_ENST00000393431.2_Intron NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 508 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GCATCCAGGGCCTCAATGGTG 0.637000 5 71 0 0 1 0 0 DPH7 92715 broad.mit.edu 37 9 140469236 140469236 + Silent SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr9:140469236C>T ENST00000277540.2 - 4 592 c.435G>A c.(433-435)ttG>ttA p.L145L DPH7_ENST00000479650.1_5'UTR NM_138778.2 NP_620133.1 diphthamide biosynthesis 7 AATCTAGGGACAAAGCCAGAC 0.537000 14 91 0 0 1 0 0 SCUBE2 57758 broad.mit.edu 37 11 9077401 9077401 + Silent SNP A A G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:9077401A>G ENST00000457346.2 - 10 1220 c.1146T>C c.(1144-1146)ccT>ccC p.P382P SCUBE2_ENST00000450649.2_Silent_p.P382P|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Silent_p.P382P|SCUBE2_ENST00000309263.3_Silent_p.P382P Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 382 EGF-like 8; calcium-binding (Potential). extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) CAAATGTGCCAGGGTGGTTGA 0.552000 8 663 0 0 1 0 0 TPGS2 25941 broad.mit.edu 37 18 34380218 34380218 + Silent SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr18:34380218G>A ENST00000334295.4 - 5 866 c.439C>T c.(439-441)Ctg>Ttg p.L147L TPGS2_ENST00000383056.3_Silent_p.L104L|TPGS2_ENST00000587129.1_Silent_p.L147L|TPGS2_ENST00000590652.1_5'UTR|TPGS2_ENST00000593035.1_Silent_p.L112L|TPGS2_ENST00000589049.1_Silent_p.L147L|TPGS2_ENST00000590842.1_Silent_p.L147L NM_015476.2 NP_056291.2 Q68CL5 TPGS2_HUMAN tubulin polyglutamylase complex subunit 2 147 cytoplasm|microtubule CATGAATCCAGCTCAAATATC 0.448000 5 946 0 0 1 0 0 PHKG2 5261 broad.mit.edu 37 16 30762868 30762868 + Splice_Site SNP A A G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr16:30762868A>G ENST00000563588.1 + 4 510 c.e4-1 PHKG2_ENST00000328273.7_Splice_Site|PHKG2_ENST00000424889.3_Splice_Site NM_000294.2 NP_000285.1 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1)|skin(1) 2 Colorectal(24;0.198) CTCTCTCCCTAGTCACCCTCA 0.552000 4 492 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182853842 182853842 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:182853842G>A ENST00000367549.3 + 27 3465 c.3355G>A c.(3355-3357)Gct>Act p.A1119T DHX9_ENST00000485081.1_3'UTR NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 1119 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 CAAACAACCTGCTATCATCAG 0.473000 4 106 0 0 1 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37188240 37188240 + RNA SNP C C T rs34700711 by1000genomes TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr17:37188240C>T ENST00000425901.2 + 0 2082 NR_033753.2 ACAGTTCAACCTCTGGACCTG 0.512000 4 113 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71498410 71498410 + Splice_Site SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:71498410G>A ENST00000396073.3 + 5 491 c.e5+1 NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) CGGCCCACATGTAAGTTTTTC 0.318000 5 444 0 0 1 0 0 ATP9A 10079 broad.mit.edu 37 20 50226667 50226667 + Missense_Mutation SNP G G C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr20:50226667G>C ENST00000338821.5 - 24 2873 c.2609C>G c.(2608-2610)cCt>cGt p.P870R ATP9A_ENST00000311637.5_Missense_Mutation_p.P734R|ATP9A_ENST00000402822.1_Missense_Mutation_p.P749R NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 870 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 TTGATAGAGAGGGACGGAGGC 0.423000 5 132 0 0 1 0 0 PBX1 5087 broad.mit.edu 37 1 164776859 164776859 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:164776859C>T ENST00000420696.2 + 5 970 c.782C>T c.(781-783)cCc>cTc p.P261L PBX1_ENST00000540236.1_Missense_Mutation_p.P261L|PBX1_ENST00000559240.1_Missense_Mutation_p.P261L|PBX1_ENST00000367897.1_Missense_Mutation_p.P261L|PBX1_ENST00000401534.1_Missense_Mutation_p.P261L|PBX1_ENST00000560641.1_Missense_Mutation_p.P156L|PBX1_ENST00000540246.1_Missense_Mutation_p.P156L NM_001204961.1|NM_001204963.1|NM_002585.3 NP_001191890.1|NP_001191892.1|NP_002576.1 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 261 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 AACCCTTACCCCAGTGAGGAA 0.488000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 4 172 0 0 1 0 0 USP54 159195 broad.mit.edu 37 10 75301423 75301423 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:75301423C>T ENST00000339859.4 - 7 746 c.646G>A c.(646-648)Gcc>Acc p.A216T USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.A216T|USP54_ENST00000319786.7_Missense_Mutation_p.A216T|USP54_ENST00000428547.1_Intron Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 216 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) ATGGTGCTGGCATTCTGCAGC 0.498000 32 106 0 0 1 0 0 ZNF749 388567 broad.mit.edu 37 19 57956010 57956010 + Silent SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:57956010G>A ENST00000334181.4 + 3 1744 c.1494G>A c.(1492-1494)ctG>ctA p.L498L AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 498 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) AGGCTCATCTGGTTGGTCACC 0.458000 4 225 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117392010 117392010 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:117392010G>A ENST00000321322.6 - 6 1229 c.1228C>T c.(1228-1230)Cgc>Tgc p.R410C DSCAML1_ENST00000527706.1_Missense_Mutation_p.R140C NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 350 Ig-like C2-type 5. 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) TCCGTGTTGCGATACCAGCGG 0.627000 18 85 0 0 1 0 0 CCNL2 81669 broad.mit.edu 37 1 1333710 1333710 + Missense_Mutation SNP C C G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:1333710C>G ENST00000400809.3 - 3 381 c.376G>C c.(376-378)Gcc>Ccc p.A126P CCNL2_ENST00000408918.4_Missense_Mutation_p.A126P NM_030937.4 NP_112199.2 Q96S94 CCNL2_HUMAN cyclin L2 126 Cyclin-like 1. regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) TGGACACAGGCCATTGACACA 0.557000 3 53 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183495729 183495729 + Splice_Site SNP A A T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:183495729A>T ENST00000367537.3 + 6 594 c.e6-1 SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000456731.2_Splice_Site Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 TTTTTCTTTTAGTTATTACAA 0.333000 4 86 0 0 1 0 0 ZNF749 388567 broad.mit.edu 37 19 57956012 57956012 + Missense_Mutation SNP T T A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:57956012T>A ENST00000334181.4 + 3 1746 c.1496T>A c.(1495-1497)gTt>gAt p.V499D AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 499 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) GCTCATCTGGTTGGTCACCAG 0.458000 4 222 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255477 15255477 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:15255477G>A ENST00000378116.4 - 8 2116 c.2110C>T c.(2110-2112)Cac>Tac p.H704Y NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 704 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GCCCGGGGGTGCGGAAGCGGC 0.562000 26 89 0 0 1 0 0 MMP3 4314 broad.mit.edu 37 11 102712941 102712941 + Missense_Mutation SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:102712941C>A ENST00000299855.5 - 4 825 c.569G>T c.(568-570)gGg>gTg p.G190V NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 190 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) TCCATTAATCCCTGGCCCAGG 0.383000 3 102 6.4e-05 7.00444e-05 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141571365 141571365 + Missense_Mutation SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:141571365T>C ENST00000389484.3 - 32 6191 c.5220A>G c.(5218-5220)atA>atG p.I1740M NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1740 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCACATAGTCTATCGATAGAC 0.343000 TSP Lung(27;0.18) 3 79 0 0 1 0 0 FAM134A 79137 broad.mit.edu 37 2 220045807 220045807 + Silent SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:220045807C>T ENST00000430297.2 + 6 800 c.664C>T c.(664-666)Ctg>Ttg p.L222L NM_024293.4 NP_077269.3 Q8NC44 F134A_HUMAN family with sequence similarity 134, member A 222 endoplasmic reticulum|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 19 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTGTGGCCCCTGGTGGTTTA 0.527000 6 99 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85642588 85642588 + Silent SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:85642588G>A ENST00000322366.6 - 46 7935 c.7528C>T c.(7528-7530)Ctg>Ttg p.L2510L WDFY3_ENST00000295888.4_Silent_p.L2527L Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2527 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AACAGGCGCAGTAAGGTAGCA 0.428000 4 379 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57114554 57114554 + Missense_Mutation SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:57114554C>A ENST00000454682.1 - 3 1041 c.760G>T c.(760-762)Gtt>Ttt p.V254F NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.V254F|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GAAATCAGAACTGAGGAAATG 0.517000 T BCL6 NHL 4 318 0.150653 0.152983 1 1 0 C6orf10 10665 broad.mit.edu 37 6 32260989 32260989 + Silent SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr6:32260989T>C ENST00000375015.4 - 26 1658 c.1458A>G c.(1456-1458)caA>caG p.Q486Q C6orf10_ENST00000527965.1_Silent_p.Q471Q|C6orf10_ENST00000447241.2_Silent_p.Q487Q|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000375007.4_Silent_p.Q485Q|C6orf10_ENST00000533191.1_Silent_p.Q485Q Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 487 Lys-rich. integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 CCTTCTTTTCTTGGGCTTCCT 0.378000 86 378 0 0 1 0 0 PLEK 5341 broad.mit.edu 37 2 68608017 68608017 + Missense_Mutation SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:68608017C>A ENST00000234313.7 + 3 540 c.361C>A c.(361-363)Cca>Aca p.P121T NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 121 actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) CATTCGACTGCCAGAAACCAT 0.453000 4 268 0.00116845 0.00123755 1 1 0 NSUN3 63899 broad.mit.edu 37 3 93802958 93802958 + Missense_Mutation SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:93802958C>A ENST00000314622.4 + 3 341 c.130C>A c.(130-132)Cta>Ata p.L44I NM_022072.3 NP_071355.1 Q9H649 NSUN3_HUMAN NOP2/Sun domain family, member 3 44 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 18 TAGGGAGATACTAACATCTCC 0.333000 3 78 1 1 1 1 0 MYH11 4629 broad.mit.edu 37 16 15842021 15842021 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr16:15842021C>T ENST00000338282.6 - 17 2169 c.2063G>A c.(2062-2064)gGc>gAc p.G688D MYH11_ENST00000576790.1_Missense_Mutation_p.G688D|MYH11_ENST00000300036.5_Missense_Mutation_p.G688D|MYH11_ENST00000452625.2_Missense_Mutation_p.G695D|MYH11_ENST00000396324.3_Missense_Mutation_p.G695D NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 688 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 ATCCAGCTTGCCGGACTGCAA 0.627000 T CBFB AML 4 190 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7757697 7757697 + Missense_Mutation SNP A A G rs138503341 byFrequency TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:7757697A>G ENST00000338316.4 + 16 2181 c.2092A>G c.(2092-2094)Atg>Gtg p.M698V ADCY2_ENST00000537121.1_Missense_Mutation_p.M518V NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 698 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 p.?(1) 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 CGTGTTCAACATGGTAAGTCC 0.542000 6 309 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236740143 236740143 + Silent SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:236740143C>A ENST00000366582.3 - 21 2976 c.2862G>T c.(2860-2862)ctG>ctT p.L954L HEATR1_ENST00000366581.2_Silent_p.L954L NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 954 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GATCTATTATCAGATAAAACG 0.443000 4 112 0.150653 0.152983 1 1 0 SRL 6345 broad.mit.edu 37 16 4242615 4242615 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr16:4242615C>T ENST00000399609.3 - 6 973 c.961G>A c.(961-963)Gtg>Atg p.V321M SRL_ENST00000537996.1_Missense_Mutation_p.V279M NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 780 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 TTCTCGATCACCTGATTCAGG 0.547000 122 364 0 0 1 0 0 RMI2 116028 broad.mit.edu 37 16 11444621 11444621 + Nonsense_Mutation SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr16:11444621G>T ENST00000572173.1 + 5 874 c.229G>T c.(229-231)Gaa>Taa p.E77* RMI2_ENST00000381820.2_Nonsense_Mutation_p.E77*|RMI2_ENST00000576027.1_3'UTR|RMI2_ENST00000312499.5_Nonsense_Mutation_p.E140* Q96E14 RMI2_HUMAN RecQ mediated genome instability 2 140 DNA replication nucleus DNA binding endometrium(1)|kidney(1)|ovary(1) 3 ACTGGAGGTAGAAGATTTACA 0.428000 13 285 1.61879e-10 1.84336e-10 1 1 0 PKP2 5318 broad.mit.edu 37 12 32996124 32996124 + Missense_Mutation SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:32996124T>C ENST00000070846.6 - 6 1526 c.1502A>G c.(1501-1503)gAc>gGc p.D501G PKP2_ENST00000340811.4_Intron NM_004572.3 NP_004563.2 Q99959 PKP2_HUMAN plakophilin 2 501 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) accatgttggtcaggctggtc 0.582000 8 181 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94693450 94693450 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:94693450G>A ENST00000282020.4 + 16 3083 c.2825G>A c.(2824-2826)cGc>cAc p.R942H GRID2_ENST00000510992.1_Missense_Mutation_p.R847H NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 942 Interaction with AP4M1 (By similarity). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ACTCTTAGCCGCACACTGTCA 0.493000 5 294 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34095955 34095955 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr20:34095955G>A ENST00000397527.1 + 32 7562 c.6842G>A c.(6841-6843)cGg>cAg p.R2281Q CEP250_ENST00000342580.4_Missense_Mutation_p.R2225Q NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 2281 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GCAGTGGCCCGGCTGGAGATT 0.582000 5 531 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123109143 123109143 + Splice_Site SNP A A T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:123109143A>T ENST00000333479.7 + 63 6692 c.e63-1 KNTC1_ENST00000450485.2_Splice_Site|KNTC1_ENST00000534995.1_Splice_Site|KNTC1_ENST00000436959.3_Splice_Site|HCAR1_ENST00000356987.2_Intron|KNTC1_ENST00000537348.1_Splice_Site NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TTGATTTTGTAGTTTAGATGA 0.463000 4 74 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50828642 50828642 + Silent SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:50828642C>T ENST00000395562.2 + 5 904 c.435C>T c.(433-435)ggC>ggT p.G145G CHAT_ENST00000339797.1_Silent_p.G109G|CHAT_ENST00000337653.2_Silent_p.G227G|CHAT_ENST00000351556.3_Silent_p.G109G|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000455728.2_Silent_p.G109G|CHAT_ENST00000395559.2_Silent_p.G109G NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 227 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) ACTTCCCTGGCACCGATGACC 0.597000 5 218 0 0 1 0 0 CCDC73 493860 broad.mit.edu 37 11 32635105 32635105 + Missense_Mutation SNP G G C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:32635105G>C ENST00000335185.5 - 16 2802 c.2759C>G c.(2758-2760)aCa>aGa p.T920R NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 920 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) ACTGCTCGCTGTTTGACTTTC 0.373000 5 291 0 0 1 0 0 MORC4 79710 broad.mit.edu 37 X 106186409 106186409 + Missense_Mutation SNP T T G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrX:106186409T>G ENST00000355610.4 - 15 1986 c.1712A>C c.(1711-1713)gAa>gCa p.E571A MORC4_ENST00000255495.7_Missense_Mutation_p.E571A|MORC4_ENST00000535534.1_Missense_Mutation_p.E319A NM_001085354.2|NM_024657.4 NP_001078823.1|NP_078933.3 Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 571 ATP binding|zinc ion binding endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 CTCCACCGGTTCTTCACCTAG 0.438000 12 196 0 0 1 0 0 TRAF3IP1 26146 broad.mit.edu 37 2 239234537 239234537 + Nonsense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:239234537C>T ENST00000373327.4 + 3 502 c.280C>T c.(280-282)Cga>Tga p.R94* TRAF3IP1_ENST00000391994.2_Nonsense_Mutation_p.R94*|TRAF3IP1_ENST00000391993.3_Nonsense_Mutation_p.R94* NM_015650.3 NP_056465.2 Q8TDR0 MIPT3_HUMAN TNF receptor-associated factor 3 interacting protein 1 94 Abolishes microtubules-binding when missing. cytoplasm|cytoskeleton protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2) 23 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) CAAACCAGCCCGAATCGTGGC 0.473000 4 210 0 0 1 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55048303 55048303 + Silent SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:55048303C>T ENST00000335056.3 + 5 908 c.870C>T c.(868-870)ggC>ggT p.G290G KIR3DX1_ENST00000482404.1_3'UTR endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) CAGTCCCTGGCGGGACCTATA 0.582000 6 159 0 0 1 0 0 ANGPT4 51378 broad.mit.edu 37 20 858848 858848 + Silent SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr20:858848G>A ENST00000381922.3 - 7 1278 c.1176C>T c.(1174-1176)gcC>gcT p.A392A ANGPT4_ENST00000546022.1_Silent_p.A392A NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 392 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 GTTCGTACTGGGCATAGGCCT 0.622000 4 217 0 0 1 0 0 NDUFV3 4731 broad.mit.edu 37 21 44324239 44324239 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr21:44324239G>T ENST00000354250.2 + 3 1186 c.1117G>T c.(1117-1119)Gat>Tat p.D373Y NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR NM_021075.3 NP_066553.3 P56181 NDUV3_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 0 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) AATCGTGGAAGATCAGATACC 0.572000 46 46 2.2618e-39 2.68418e-39 1 1 0 CCDC155 147872 broad.mit.edu 37 19 49900970 49900970 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:49900970G>A ENST00000447857.3 + 6 668 c.463G>A c.(463-465)Gag>Aag p.E155K NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 155 integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 CCCCAGACCCGAGCTGTACCT 0.637000 5 266 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187630625 187630625 + Missense_Mutation SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:187630625T>C ENST00000441802.2 - 2 566 c.357A>G c.(355-357)atA>atG p.I119M NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 119 Cadherin 1. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GTGCTTTCACTATCAATGTGT 0.408000 HNSCC(5;0.00058) 3 342 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154067513 154067513 + Silent SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:154067513C>T ENST00000368559.3 - 15 2156 c.2085G>A c.(2083-2085)gcG>gcA p.A695A NUP210L_ENST00000271854.3_Silent_p.A695A NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 695 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) CTGTCTTCTCCGCATTCAATT 0.473000 5 30 0 0 1 0 0 ZBTB11 27107 broad.mit.edu 37 3 101378874 101378874 + Splice_Site SNP T T A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:101378874T>A ENST00000312938.4 - 6 2381 c.e6-2 NM_014415.3 NP_055230.2 O95625 ZBT11_HUMAN zinc finger and BTB domain containing 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TTTACACAACTAAAAGAAAAA 0.323000 5 88 0 0 1 0 0 SALL2 6297 broad.mit.edu 37 14 22005036 22005036 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr14:22005036C>T ENST00000327430.3 - 1 314 c.20G>A c.(19-21)cGg>cAg p.R7Q SALL2_ENST00000317492.5_Missense_Mutation_p.R7Q NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 7 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) TTGGGGTTTCCGCTGCTTTCG 0.627000 4 330 0 0 1 0 0 DEFB116 245930 broad.mit.edu 37 20 29891091 29891091 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr20:29891091G>T ENST00000400549.1 - 2 232 c.233C>A c.(232-234)tCt>tAt p.S78Y NM_001037731.1 NP_001032820.1 Q30KQ4 DB116_HUMAN defensin, beta 116 78 defense response to bacterium extracellular region kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CACATTTTTAGAACTGGTTAT 0.403000 127 1703 5.19286e-32 6.08925e-32 1 1 0 SLC22A14 9389 broad.mit.edu 37 3 38347690 38347690 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:38347690C>T ENST00000273173.4 + 1 264 c.173C>T c.(172-174)gCg>gTg p.A58V SLC22A14_ENST00000448498.1_Missense_Mutation_p.A58V NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 58 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) CTCCTGGATGCGGTGGGGGAG 0.537000 5 216 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124380739 124380739 + Silent SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:124380739G>A ENST00000338354.3 + 41 5170 c.5064G>A c.(5062-5064)tcG>tcA p.S1688S DMBT1_ENST00000368955.3_Silent_p.S1678S|DMBT1_ENST00000368956.2_Silent_p.S1060S|DMBT1_ENST00000344338.3_Silent_p.S1678S|DMBT1_ENST00000368909.3_Silent_p.S1688S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Silent_p.S1060S Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1688 SRCR 13. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGGCCATGTCGGCCCCAGGAA 0.612000 7 333 0 0 1 0 0 FAM193A 8603 broad.mit.edu 37 4 2698154 2698154 + Missense_Mutation SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:2698154C>A ENST00000324666.5 + 16 2819 c.2468C>A c.(2467-2469)aCc>aAc p.T823N FAM193A_ENST00000505311.1_Missense_Mutation_p.T823N|FAM193A_ENST00000545951.1_Missense_Mutation_p.T823N|FAM193A_ENST00000502458.1_Missense_Mutation_p.T845N|FAM193A_ENST00000382839.3_Missense_Mutation_p.T823N NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 823 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 TTACGGCTGACCAAGAGGAAA 0.418000 4 145 0.00909568 0.00948068 1 1 0 ACSL3 2181 broad.mit.edu 37 2 223782762 223782762 + Splice_Site SNP A A T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:223782762A>T ENST00000357430.3 + 6 1087 c.e6-1 AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Splice_Site NM_004457.3 NP_004448.2 O95573 ACSL3_HUMAN acyl-CoA synthetase long-chain family member 3 long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2) 22 Renal(207;0.0183) Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864) Icosapent(DB00159) TTTTCCTTTTAGTTGTTACAT 0.358000 T ETV1 prostate 5 116 0 0 1 0 0 DEPDC7 91614 broad.mit.edu 37 11 33050304 33050304 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:33050304G>T ENST00000311388.3 + 4 1097 c.721G>T c.(721-723)Gat>Tat p.D241Y DEPDC7_ENST00000241051.3_Missense_Mutation_p.D250Y NM_139160.2 NP_631899.2 Q96QD5 DEPD7_HUMAN DEP domain containing 7 250 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 TAACTATCTGGATCGAGGGAT 0.403000 11 143 7.03913e-09 7.87902e-09 1 1 0 PCLO 27445 broad.mit.edu 37 7 82545232 82545232 + Missense_Mutation SNP T T G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr7:82545232T>G ENST00000423517.2 - 7 12407 c.12070A>C c.(12070-12072)Agt>Cgt p.S4024R PCLO_ENST00000437081.1_Missense_Mutation_p.S744R|PCLO_ENST00000333891.8_Missense_Mutation_p.S4024R NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3955 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 GATATTGGACTGCTTGCCATG 0.383000 5 471 0 0 1 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40639318 40639318 + Missense_Mutation SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr17:40639318T>C ENST00000343619.4 + 10 1079 c.956T>C c.(955-957)tTg>tCg p.L319S ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.L276S|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.L326S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.L319S|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.L319S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.L276S NM_001130021.1 NP_001123493.1 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 319 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) CAGAAATGCTTGATTGCAGAG 0.517000 12 257 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29769544 29769544 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:29769544G>T ENST00000375398.2 - 31 5748 c.5299C>A c.(5299-5301)Ctc>Atc p.L1767I SVIL_ENST00000538146.1_Missense_Mutation_p.L559I|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.L681I|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.L1767I|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.L1341I O95425 SVIL_HUMAN supervillin 1767 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding p.L1767I(2) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) TGTTTGGGGAGCCTGCTATAG 0.547000 4 56 0.150653 0.152983 1 1 0 LDHAL6A 160287 broad.mit.edu 37 11 18497053 18497053 + Silent SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:18497053T>C ENST00000280706.2 + 4 1256 c.459T>C c.(457-459)ttT>ttC p.F153F TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Silent_p.F153F NM_144972.4 NP_659409.2 Q6ZMR3 LDH6A_HUMAN lactate dehydrogenase A-like 6A 153 glycolysis cytoplasm binding|L-lactate dehydrogenase activity large_intestine(3)|lung(9)|urinary_tract(1) 13 NADH(DB00157) TGAGTGGATTTCCCAAAAACC 0.383000 4 197 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38938500 38938500 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:38938500G>A ENST00000450244.1 - 14 2437 c.2239C>T c.(2239-2241)Cgg>Tgg p.R747W SCN11A_ENST00000444237.2_Missense_Mutation_p.R747W|SCN11A_ENST00000456224.3_Missense_Mutation_p.R747W|SCN11A_ENST00000302328.3_Missense_Mutation_p.R747W Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 747 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.R747W(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TGCCAGTGCCGTAAACATGAG 0.488000 3 102 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184039116 184039116 + Silent SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:184039116T>C ENST00000342981.4 + 9 1158 c.744T>C c.(742-744)ccT>ccC p.P248P EIF4G1_ENST00000411531.1_Silent_p.P208P|EIF4G1_ENST00000352767.3_Silent_p.P255P|EIF4G1_ENST00000434061.2_Silent_p.P52P|EIF4G1_ENST00000441154.1_Silent_p.P84P|EIF4G1_ENST00000350481.5_Silent_p.P84P|EIF4G1_ENST00000392537.2_Silent_p.P161P|EIF4G1_ENST00000319274.6_Silent_p.P248P|EIF4G1_ENST00000427845.1_Silent_p.P161P|EIF4G1_ENST00000424196.1_Silent_p.P255P|EIF4G1_ENST00000414031.1_Silent_p.P208P|EIF4G1_ENST00000382330.3_Silent_p.P255P|EIF4G1_ENST00000346169.2_Silent_p.P248P|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Silent_p.P52P NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 248 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CAGGGCTGCCTGGCCCAGAGC 0.567000 13 195 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2976082 2976082 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr8:2976082G>A ENST00000520002.1 - 43 6827 c.6272C>T c.(6271-6273)cCa>cTa p.P2091L CSMD1_ENST00000602723.1_Missense_Mutation_p.P2091L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2091L|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2091L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2090L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2090L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2091 Sushi 12. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AAATGGGGGTGGATCTGGACA 0.408000 3 84 0 0 1 0 0 QPCT 25797 broad.mit.edu 37 2 37586796 37586796 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:37586796C>T ENST00000338415.3 + 3 499 c.341C>T c.(340-342)cCc>cTc p.P114L QPCT_ENST00000537448.1_Missense_Mutation_p.P65L NM_012413.3 NP_036545.1 Q16769 QPCT_HUMAN glutaminyl-peptide cyclotransferase 114 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis extracellular region acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2) 17 Ovarian(717;0.051)|all_hematologic(82;0.21) AGTCAGACACCCTATGGGTAC 0.443000 66 43 0 0 1 0 0 HRH2 3274 broad.mit.edu 37 5 175110623 175110623 + Silent SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:175110623G>A ENST00000231683.2 + 1 2160 c.387G>A c.(385-387)ctG>ctA p.L129L HRH2_ENST00000377291.2_Silent_p.L129L NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 129 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity p.L129L(1) breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) ACCCTGTGCTGGTCACCCCAG 0.557000 4 320 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109379873 109379873 + Missense_Mutation SNP C C T rs150729745 by1000genomes TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr13:109379873C>T ENST00000356711.2 + 4 509 c.383C>T c.(382-384)aCg>aTg p.T128M MYO16_ENST00000357550.2_Missense_Mutation_p.T128M|MYO16_ENST00000251041.5_Missense_Mutation_p.T128M NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 128 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity p.T128M(1) NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GACTTCTGGACGCCCATGCAC 0.418000 79 199 0 0 1 0 0 LMNB1 4001 broad.mit.edu 37 5 126156695 126156695 + Silent SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:126156695G>A ENST00000261366.5 + 7 1615 c.1254G>A c.(1252-1254)agG>agA p.R418R LMNB1_ENST00000460265.1_3'UTR NM_001198557.1|NM_005573.3 NP_001185486.1|NP_005564.1 P20700 LMNB1_HUMAN lamin B1 418 Tail. cellular component disassembly involved in apoptosis lamin filament|nuclear inner membrane protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.103)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903) AGCGGAAGAGGGTTGATGTGG 0.478000 16 69 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42063104 42063104 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr7:42063104C>T ENST00000395925.3 - 10 1544 c.1460G>A c.(1459-1461)tGc>tAc p.C487Y GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 487 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 CTCCCTCGCGCAGCCTTCCCA 0.532000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 4 175 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435766 158435766 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:158435766G>A ENST00000289451.2 + 1 495 c.415G>A c.(415-417)Ggg>Agg p.G139R NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) CATGGGACATGGGGTGTGTAT 0.552000 4 262 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4051776 4051776 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr7:4051776G>A ENST00000404826.2 + 16 2468 c.2329G>A c.(2329-2331)Gcc>Acc p.A777T SDK1_ENST00000389531.3_Missense_Mutation_p.A777T NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 777 Fibronectin type-III 2. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) AAATATAGTGGCCAGTGGGCG 0.517000 7 778 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62291443 62291443 + Missense_Mutation SNP G G C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:62291443G>C ENST00000378024.4 - 5 10720 c.10446C>G c.(10444-10446)ttC>ttG p.F3482L AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3482 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CAGACACACTGAATTTGGGCA 0.453000 10 100 0 0 1 0 0 SLC12A2 6558 broad.mit.edu 37 5 127486938 127486938 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:127486938C>T ENST00000262461.2 + 14 2302 c.2113C>T c.(2113-2115)Cgt>Tgt p.R705C SLC12A2_ENST00000343225.4_Missense_Mutation_p.R705C NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 705 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) GTTAGGATGGCGTCCTGCATT 0.348000 19 167 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50408873 50408873 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr20:50408873G>A ENST00000217086.4 - 2 260 c.149C>T c.(148-150)cCa>cTa p.P50L SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Missense_Mutation_p.P50L NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 50 transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P50Q(1) endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GTCATTCCCTGGGTGGTTCAC 0.547000 5 406 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129903439 129903439 + Missense_Mutation SNP C C T rs148951938 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:129903439C>T ENST00000368654.3 - 13 7040 c.6665G>A c.(6664-6666)aGa>aAa p.R2222K MKI67_ENST00000368653.3_Missense_Mutation_p.R1862K NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2222 16 X 122 AA approximate repeats. 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) TTGTGGAGATCTGCAGGCTAT 0.493000 5 753 0 0 1 0 0 FAM120B 84498 broad.mit.edu 37 6 170627847 170627847 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr6:170627847C>T ENST00000476287.1 + 2 1477 c.1369C>T c.(1369-1371)Ccc>Tcc p.P457S FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.P480S|FAM120B_ENST00000540480.1_Missense_Mutation_p.P469S NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 457 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) AGGCTCTGAACCCAGGCAAGA 0.473000 5 188 0 0 1 0 0 AP1G2 8906 broad.mit.edu 37 14 24033790 24033790 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr14:24033790C>T ENST00000308724.5 - 8 1657 c.902G>A c.(901-903)cGc>cAc p.R301H RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.R301H NM_003917.2 NP_003908.1 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 subunit 301 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) AGCTGCAGAGCGGATATCCAT 0.587000 5 216 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34327050 34327050 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr18:34327050C>T ENST00000257209.4 + 21 3781 c.3659C>T c.(3658-3660)gCa>gTa p.A1220V FHOD3_ENST00000592128.1_Missense_Mutation_p.A199V|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1395V|FHOD3_ENST00000359247.4_Missense_Mutation_p.A1203V|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1182V|FHOD3_ENST00000591635.1_Missense_Mutation_p.A416V NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1203 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) AAAGACTGTGCAGAGCGAATT 0.353000 8 701 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76764091 76764091 + Missense_Mutation SNP T T A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrX:76764091T>A ENST00000373344.5 - 35 7431 c.7217A>T c.(7216-7218)cAg>cTg p.Q2406L ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.Q2368L NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2406 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AAGTATTCGCTGAACACAGCT 0.393000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 4 184 0 0 1 0 0 MT1H 4496 broad.mit.edu 37 16 56704858 56704858 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr16:56704858G>T ENST00000332374.4 + 3 214 c.143G>T c.(142-144)tGc>tTc p.C48F MT1H_ENST00000569155.1_3'UTR NM_005951.2 NP_005942.1 P80294 MT1H_HUMAN metallothionein 1H 48 Alpha. metal ion binding|protein binding lung(5) 5 GCCCAGGGCTGCATCTGCAAA 0.567000 53 97 4.10029e-35 4.83687e-35 1 1 0 RHCE 6006 broad.mit.edu 37 1 25718602 25718602 + Missense_Mutation SNP A A G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:25718602A>G ENST00000349320.3 - 6 857 c.469T>C c.(469-471)Tac>Cac p.Y157H RHCE_ENST00000455194.1_Intron|RHCE_ENST00000425135.1_Missense_Mutation_p.Y173H|RHCE_ENST00000413854.1_Missense_Mutation_p.Y173H|RHCE_ENST00000374352.2_Missense_Mutation_p.Y157H|RHCE_ENST00000349438.4_Missense_Mutation_p.Y173H|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000294413.7_Missense_Mutation_p.Y173H|RHCE_ENST00000243186.6_Missense_Mutation_p.Y173H P18577 RHCE_HUMAN Rh blood group, CcEe antigens 173 integral to plasma membrane endometrium(8)|large_intestine(6)|lung(3) 17 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) GCGAACACGTAGAAGTGCCTC 0.537000 5 412 0 0 1 0 0 RCHY1 25898 broad.mit.edu 37 4 76407825 76407825 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:76407825C>T ENST00000324439.5 - 9 1107 c.709G>A c.(709-711)Ggc>Agc p.G237S RCHY1_ENST00000513257.1_Missense_Mutation_p.G228S|RCHY1_ENST00000451788.1_3'UTR|RCHY1_ENST00000380840.2_Missense_Mutation_p.G197S|RCHY1_ENST00000512706.1_Missense_Mutation_p.G215S NM_001278536.1|NM_001278538.1|NM_001278539.1 NP_001265465.1|NP_001265467.1|NP_001265468.1 Q96PM5 ZN363_HUMAN ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase 237 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nuclear speck|ubiquitin ligase complex electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|pancreas(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) CATTTCATGCCTAATATATGA 0.348000 4 214 0 0 1 0 0 KANSL2 54934 broad.mit.edu 37 12 49061476 49061476 + Splice_Site SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:49061476G>A ENST00000550347.1 - 6 1565 c.1522_splice c.e6+1 p.H508_splice KANSL2_ENST00000357861.3_Splice_Site_p.Q130_splice|KANSL2_ENST00000420613.2_Splice_Site_p.H325_splice|KANSL2_ENST00000553086.1_Splice_Site_p.H325_splice Q9H9L4 CL041_HUMAN KAT8 regulatory NSL complex subunit 2 325 AAAAAGATACGGGTAAGGCAG 0.448000 6 346 0 0 1 0 0 CIDEC 63924 broad.mit.edu 37 3 9911695 9911695 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:9911695C>T ENST00000336832.2 - 5 564 c.425G>A c.(424-426)cGt>cAt p.R142H CIDEC_ENST00000423850.1_Missense_Mutation_p.R68H|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000430427.1_Missense_Mutation_p.R152H|CIDEC_ENST00000455015.1_Missense_Mutation_p.R68H|CIDEC_ENST00000443115.1_Intron NM_001199552.1|NM_001199623.1|NM_022094.3 NP_001186481.1|NP_001186552.1|NP_071377.2 Q96AQ7 CIDEC_HUMAN cell death-inducing DFFA-like effector c 142 apoptosis|induction of apoptosis cytosol|focal adhesion|nucleus breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1) 8 Medulloblastoma(99;0.227) AAACGTTACACGGGCCACATC 0.488000 6 689 0 0 1 0 0 SYBU 55638 broad.mit.edu 37 8 110631148 110631148 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr8:110631148G>A ENST00000399066.3 - 2 1068 c.341C>T c.(340-342)aCg>aTg p.T114M SYBU_ENST00000424158.2_Missense_Mutation_p.T122M|SYBU_ENST00000440310.1_Missense_Mutation_p.T117M|SYBU_ENST00000533171.1_Missense_Mutation_p.T117M|SYBU_ENST00000422135.1_Missense_Mutation_p.T117M|SYBU_ENST00000408908.2_Missense_Mutation_p.T117M|SYBU_ENST00000532779.1_Missense_Mutation_p.T49M|SYBU_ENST00000408889.3_De_novo_Start_InFrame|SYBU_ENST00000528331.1_De_novo_Start_InFrame|SYBU_ENST00000276646.9_Missense_Mutation_p.T117M|SYBU_ENST00000446070.2_Missense_Mutation_p.T116M|SYBU_ENST00000419099.1_Missense_Mutation_p.T116M|SYBU_ENST00000533065.1_De_novo_Start_InFrame|SYBU_ENST00000533895.1_Missense_Mutation_p.T116M|SYBU_ENST00000433638.1_Missense_Mutation_p.T117M|SYBU_ENST00000528647.1_Missense_Mutation_p.T116M NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 117 Ser-rich.|Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 CATTCCAATCGTGCATTTCTT 0.478000 7 362 0 0 1 0 0 FTSJ3 117246 broad.mit.edu 37 17 61897195 61897195 + Silent SNP A A T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr17:61897195A>T ENST00000427159.2 - 21 3156 c.2511T>A c.(2509-2511)cgT>cgA p.R837R NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 837 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 TTTGTTCCTTACGTTGCTGTG 0.537000 6 424 0 0 1 0 0 DAXX 1616 broad.mit.edu 37 6 33287346 33287346 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr6:33287346G>A ENST00000374542.5 - 6 1955 c.1751C>T c.(1750-1752)aCg>aTg p.T584M DAXX_ENST00000266000.6_Missense_Mutation_p.T584M|DAXX_ENST00000414083.2_Missense_Mutation_p.T509M NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 584 Interaction with MAP3K5. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 GGAAATGTCCGTCTCCACAGA 0.532000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 4 122 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68973015 68973015 + Splice_Site SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr8:68973015G>A ENST00000288368.4 + 11 1616 c.e11+1 PREX2_ENST00000529398.1_Splice_Site NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 ATTCACCATGGTAATTACTTT 0.343000 3 91 0 0 1 0 0 MMP19 4327 broad.mit.edu 37 12 56230903 56230903 + Missense_Mutation SNP A A T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:56230903A>T ENST00000394182.1 - 4 585 c.586T>A c.(586-588)Tca>Aca p.S196T MMP19_ENST00000548629.1_Missense_Mutation_p.S459T|MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000322569.4_Missense_Mutation_p.S482T Q99542 MMP19_HUMAN matrix metallopeptidase 19 482 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 TTCCCACCTGATGGGGTAGTG 0.522000 5 556 0 0 1 0 0 ARNT 405 broad.mit.edu 37 1 150804293 150804293 + Splice_Site SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:150804293C>T ENST00000358595.5 - 10 1156 c.e10+1 ARNT_ENST00000354396.2_Splice_Site|ARNT_ENST00000505755.1_Splice_Site|ARNT_ENST00000515192.1_Splice_Site|ARNT_ENST00000468970.1_5'UTR NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) CACTTTCTTACCTGCTGGGGG 0.438000 T ETV6 AML 4 36 0 0 1 0 0 MAX 4149 broad.mit.edu 37 14 65544756 65544756 + Splice_Site SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr14:65544756T>C ENST00000284165.6 - 4 320 c.e4-2 MAX_ENST00000358402.4_Splice_Site|MAX_ENST00000556443.1_Splice_Site|MAX_ENST00000555932.1_Intron|MAX_ENST00000341653.2_Intron|MAX_ENST00000556979.1_Splice_Site|MAX_ENST00000358664.4_Splice_Site|MAX_ENST00000555667.1_Splice_Site|MAX_ENST00000557277.1_Splice_Site|MAX_ENST00000555419.1_Splice_Site|MAX_ENST00000557746.1_Splice_Site NM_145113.1 NP_660088.1 P61244 MAX_HUMAN MYC associated factor X transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 17 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) CCGGGATGCCTGTGGCAATAT 0.498000 15 68 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8999035 8999035 + Silent SNP G G C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:8999035G>C ENST00000397910.4 - 57 41012 c.40809C>G c.(40807-40809)ccC>ccG p.P13603P MUC16_ENST00000380951.5_Silent_p.P244P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13605 Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGCTAGTGGTGGGCACAGAGC 0.542000 6 153 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210560726 210560726 + Missense_Mutation SNP A A G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:210560726A>G ENST00000360351.4 + 7 4338 c.3832A>G c.(3832-3834)Aaa>Gaa p.K1278E MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.K1274E NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1278 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AAGTGAACACAAAGGAGTGAT 0.498000 21 181 0 0 1 0 0 MT-TL1 0 broad.mit.edu 37 MT 3244 3244 + RNA SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrM:3244G>A ENST00000386347.1 + 0 15 aagatggcagagcccggtaat 0.438000 11 3 0 0 1 0 0 LARP1B 55132 broad.mit.edu 37 4 129098058 129098058 + Silent SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:129098058G>A ENST00000326639.6 + 13 1891 c.1680G>A c.(1678-1680)aaG>aaA p.K560K LARP1B_ENST00000441387.1_Silent_p.K560K|LARP1B_ENST00000264584.5_Intron|LARP1B_ENST00000354456.3_5'UTR NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 560 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 acattcccaagaaaggtaaca 0.393000 6 102 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12885598 12885598 + Splice_Site SNP A A T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrX:12885598A>T ENST00000380659.3 + 2 41 c.e2-1 TLR7_ENST00000484204.1_3'UTR NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) TCTTTCTCTTAGTTGATGCTA 0.388000 5 279 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73414294 73414294 + Silent SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:73414294T>C ENST00000286657.4 - 3 441 c.405A>G c.(403-405)agA>agG p.R135R ADAMTS3_ENST00000505193.1_5'UTR NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 135 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTCTCCGGATTCTATACGTAG 0.498000 5 279 0 0 1 0 0 DTL 51514 broad.mit.edu 37 1 212273684 212273684 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:212273684C>T ENST00000366991.4 + 14 1666 c.1352C>T c.(1351-1353)gCc>gTc p.A451V DTL_ENST00000542077.1_Missense_Mutation_p.A409V|DTL_ENST00000475419.1_3'UTR NM_016448.2 NP_057532.2 Q9NZJ0 DTL_HUMAN denticleless E3 ubiquitin protein ligase homolog (Drosophila) 451 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) GCAGCTTGTGCCCCAAGCTGT 0.522000 6 301 0 0 1 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155931573 155931573 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:155931573C>T ENST00000368316.1 - 15 1733 c.1263G>A c.(1261-1263)atG>atA p.M421I ARHGEF2_ENST00000361247.4_Missense_Mutation_p.M449I|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.M448I|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.M421I|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.M450I Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 449 DH. actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CCCGAGGGTCCATGCGGTTGT 0.597000 25 59 0 0 1 0 0 ZNF24 7572 broad.mit.edu 37 18 32917436 32917436 + Silent SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr18:32917436G>A ENST00000261332.6 - 4 1046 c.867C>T c.(865-867)agC>agT p.S289S ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Silent_p.S289S NM_006965.2 NP_008896.2 P17028 ZNF24_HUMAN zinc finger protein 24 289 myelination|negative regulation of transcription, DNA-dependent|viral reproduction nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 15 TGGAACTTCGGCTGAATGCTT 0.453000 4 308 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125082753 125082753 + Missense_Mutation SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr8:125082753T>C ENST00000522917.1 + 30 4086 c.3880T>C c.(3880-3882)Tgg>Cgg p.W1294R FER1L6_ENST00000399018.1_Missense_Mutation_p.W1294R|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1294 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TTTTGAAGACTGGGTGAAAAC 0.418000 7 201 0 0 1 0 0 MAPRE3 22924 broad.mit.edu 37 2 27245090 27245090 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:27245090G>A ENST00000233121.2 + 2 202 c.4G>A c.(4-6)Gcc>Acc p.A2T MAPRE3_ENST00000405074.3_Missense_Mutation_p.A2T|MAPRE3_ENST00000491354.1_3'UTR|MAPRE3_ENST00000402218.1_Missense_Mutation_p.A2T Q9UPY8 MARE3_HUMAN microtubule-associated protein, RP/EB family, member 3 2 A -> P (in Ref. 7; CAA72060). cell division|mitosis|positive regulation of transcription, DNA-dependent cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm microtubule binding|protein binding|small GTPase regulator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGGGGTATGGCCGTCAATGT 0.507000 18 609 0 0 1 0 0 ANKRD28 23243 broad.mit.edu 37 3 15726732 15726732 + Splice_Site SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:15726732C>A ENST00000399451.2 - 21 2667 c.e21+1 ANKRD28_ENST00000497037.1_Splice_Site|ANKRD28_ENST00000383777.1_Splice_Site NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 GTATACTTAACCATTGTAGCA 0.373000 31 170 2.81731e-10 3.18972e-10 1 1 0 PLSCR4 57088 broad.mit.edu 37 3 145918825 145918825 + Nonsense_Mutation SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:145918825C>A ENST00000354952.2 - 5 634 c.394G>T c.(394-396)Gaa>Taa p.E132* PLSCR4_ENST00000446574.2_Nonsense_Mutation_p.E132*|PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000493382.1_Nonsense_Mutation_p.E132* NM_020353.2 NP_065086.2 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 132 blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1) 17 TACATACTTTCCAGAGGCTCA 0.318000 4 111 0.00116845 0.00123755 1 1 0 PKP2 5318 broad.mit.edu 37 12 32996139 32996139 + Missense_Mutation SNP A A T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:32996139A>T ENST00000070846.6 - 6 1511 c.1487T>A c.(1486-1488)gTt>gAt p.V496D PKP2_ENST00000340811.4_Intron NM_004572.3 NP_004563.2 Q99959 PKP2_HUMAN plakophilin 2 496 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) ctggtctcgaactcctgacct 0.557000 4 251 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43783270 43783270 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:43783270G>A ENST00000372476.3 + 16 2735 c.2656G>A c.(2656-2658)Gga>Aga p.G886R TIE1_ENST00000433781.2_Missense_Mutation_p.G531R|TIE1_ENST00000473014.1_3'UTR NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 886 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGACTTTGCGGGAGAACTGGA 0.502000 3 192 0 0 1 0 0 RPL12P38 645688 broad.mit.edu 37 17 58511256 58511256 + RNA SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr17:58511256C>A ENST00000588627.1 - 0 2101 GCAAGGTTGACGATCTCATCA 0.473000 3 60 1 1 1 1 0 FAT3 120114 broad.mit.edu 37 11 92533197 92533197 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:92533197G>T ENST00000298047.6 + 9 7035 c.7018G>T c.(7018-7020)Gat>Tat p.D2340Y FAT3_ENST00000409404.2_Missense_Mutation_p.D2340Y|FAT3_ENST00000525166.1_Missense_Mutation_p.D2190Y Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2340 Cadherin 21. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTTTCACATAGATAGCTCAAG 0.383000 TCGA Ovarian(4;0.039) 8 110 2.17888e-05 2.41145e-05 1 1 0 ITGA5 3678 broad.mit.edu 37 12 54797447 54797447 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:54797447C>T ENST00000293379.4 - 17 1999 c.1738G>A c.(1738-1740)Gct>Act p.A580T RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 580 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 TCCTCTCGAGCCCCATTCTGG 0.627000 9 90 0 0 1 0 0 RNF113B 140432 broad.mit.edu 37 13 98828727 98828727 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr13:98828727C>T ENST00000267291.6 - 1 792 c.764G>A c.(763-765)aGg>aAg p.R255K FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron NM_178861.4 NP_849192.1 Q8IZP6 R113B_HUMAN ring finger protein 113B 255 nucleic acid binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) TATGAAACACCTGAATGGTAT 0.557000 3 111 0 0 1 0 0 ETFDH 2110 broad.mit.edu 37 4 159618709 159618709 + Splice_Site SNP A A T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:159618709A>T ENST00000511912.1 + 8 1163 c.e8-1 ETFDH_ENST00000307738.5_Splice_Site NM_004453.2 NP_004444.2 Q16134 ETFD_HUMAN electron-transferring-flavoprotein dehydrogenase fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport integral to mitochondrial inner membrane|mitochondrial matrix 4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3) 28 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0172) TTTTTTTTTTAGTTATGGGTT 0.348000 4 104 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74627331 74627331 + Nonsense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr15:74627331C>T ENST00000321288.5 + 21 2752 c.2752C>T c.(2752-2754)Cga>Tga p.R918* CCDC33_ENST00000558821.1_Nonsense_Mutation_p.R274*|CCDC33_ENST00000268082.4_Nonsense_Mutation_p.R308*|CCDC33_ENST00000398814.3_Nonsense_Mutation_p.R681* Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 884 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GGACTCAGCTCGACGCTGGGG 0.577000 5 209 0 0 1 0 0 CD1A 909 broad.mit.edu 37 1 158226831 158226831 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:158226831G>A ENST00000289429.5 + 4 1393 c.860G>A c.(859-861)gGc>gAc p.G287D NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 287 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex p.G287V(1) 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) AGTCTAGAGGGCCAGGACATC 0.592000 7 155 0 0 1 0 0 OR5K4 403278 broad.mit.edu 37 3 98072960 98072960 + Missense_Mutation SNP A A G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:98072960A>G ENST00000354924.2 + 1 263 c.263A>G c.(262-264)gAg>gGg p.E88G RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 TTCTTTTCTGAGGATAGAATT 0.428000 8 1371 0 0 1 0 0 GADL1 339896 broad.mit.edu 37 3 30875766 30875766 + Nonsense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:30875766C>T ENST00000454381.3 - 10 957 c.911G>A c.(910-912)tGg>tAg p.W304* GADL1_ENST00000282538.5_Nonsense_Mutation_p.W304* Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 304 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) TGAGCCACCCCAAGAAGCCTG 0.443000 15 160 0 0 1 0 0 FAM65A 79567 broad.mit.edu 37 16 67576514 67576514 + Missense_Mutation SNP A A G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr16:67576514A>G ENST00000540839.3 + 14 2105 c.1885A>G c.(1885-1887)Acc>Gcc p.T629A CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.T609A|FAM65A_ENST00000379312.3_Missense_Mutation_p.T613A|FAM65A_ENST00000428437.2_Missense_Mutation_p.T623A|FAM65A_ENST00000422602.2_Missense_Mutation_p.T629A Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 613 Pro-rich. cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) GCCAAGCCCTACCCATACCAC 0.542000 5 246 0 0 1 0 0 TFRC 7037 broad.mit.edu 37 3 195778819 195778819 + Missense_Mutation SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:195778819C>A ENST00000360110.4 - 19 2446 c.2277G>T c.(2275-2277)gaG>gaT p.E759D TFRC_ENST00000420415.1_Missense_Mutation_p.E678D|TFRC_ENST00000392396.3_Missense_Mutation_p.E759D|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.E477D NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 759 Ligand-binding. cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) ACATTTAAAACTCATTGTCAA 0.438000 T BCL6 NHL 26 82 1.2476e-16 1.4543e-16 1 1 0 BMX 660 broad.mit.edu 37 X 15540535 15540535 + Nonsense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrX:15540535C>T ENST00000357607.2 + 7 765 c.577C>T c.(577-579)Caa>Taa p.Q193* BMX_ENST00000342014.6_Nonsense_Mutation_p.Q193*|BMX_ENST00000348343.6_Nonsense_Mutation_p.Q193* P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 193 cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity p.Q193K(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) CACTCTAGCCCAATATGACAA 0.428000 11 275 0 0 1 0 0 PELI1 57162 broad.mit.edu 37 2 64323337 64323337 + Silent SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:64323337T>C ENST00000358912.4 - 6 1054 c.612A>G c.(610-612)ggA>ggG p.G204G NM_020651.3 NP_065702.2 Q96FA3 PELI1_HUMAN pellino E3 ubiquitin protein ligase 1 204 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 19 CTCTCCATATTCCAGGCTTGG 0.438000 78 72 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124380756 124380756 + Missense_Mutation SNP G G A rs111726992 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:124380756G>A ENST00000338354.3 + 41 5187 c.5081G>A c.(5080-5082)cGg>cAg p.R1694Q DMBT1_ENST00000368955.3_Missense_Mutation_p.R1684Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1066Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1684Q|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1694Q|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1066Q Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1694 SRCR 13. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGAAATGCCCGGTTTGGCCAG 0.617000 7 340 0 0 1 0 0 ZNF654 55279 broad.mit.edu 37 3 88189280 88189280 + Missense_Mutation SNP A A T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:88189280A>T ENST00000309495.5 + 1 1027 c.820A>T c.(820-822)Aat>Tat p.N274Y CGGBP1_ENST00000462901.1_Intron NM_018293.2 NP_060763.2 Q8IZM8 ZN654_HUMAN zinc finger protein 654 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3) 12 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) TTTGCATTTTAATTGCAACGA 0.373000 4 155 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38568017 38568017 + Silent SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr21:38568017C>T ENST00000399017.2 + 42 8006 c.5259C>T c.(5257-5259)ggC>ggT p.G1753G TTC3_ENST00000355666.1_Silent_p.G1753G|TTC3_ENST00000354749.2_Silent_p.G1753G|TTC3_ENST00000479930.1_3'UTR NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1753 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) GCGACGATGGCCAAGGGCTTG 0.557000 4 456 0 0 1 0 0 U2SURP 23350 broad.mit.edu 37 3 142772557 142772557 + Missense_Mutation SNP A A C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:142772557A>C ENST00000397933.2 + 25 2750 c.1468A>C c.(1468-1470)Aag>Cag p.K490Q U2SURP_ENST00000473835.2_Missense_Mutation_p.K899Q|U2SURP_ENST00000493598.2_Missense_Mutation_p.K898Q O15042 SR140_HUMAN U2 snRNP-associated SURP domain containing 899 RNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 agaaagagacaagaaagataa 0.303000 3 100 0 0 1 0 0 FCRLB 127943 broad.mit.edu 37 1 161693219 161693219 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:161693219C>T ENST00000367948.2 + 5 330 c.115C>T c.(115-117)Cgg>Tgg p.R39W FCRLB_ENST00000336830.5_Missense_Mutation_p.R39W|FCRLB_ENST00000392158.1_Missense_Mutation_p.R39W|FCRLB_ENST00000367944.3_Missense_Mutation_p.R32W|FCRLB_ENST00000367945.1_Missense_Mutation_p.R32W|FCRLB_ENST00000367946.3_Missense_Mutation_p.R39W Q6BAA4 FCRLB_HUMAN Fc receptor-like B 39 Ig-like C2-type 1. endoplasmic reticulum central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1) 17 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) CAAAGGGGAGCGGGTAACTTT 0.557000 4 229 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39265811 39265811 + Silent SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr13:39265811C>T ENST00000280481.7 + 1 4546 c.4330C>T c.(4330-4332)Cta>Tta p.L1444L NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1444 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AACAGACCTACTAAGCACTAG 0.473000 5 83 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 5 282 0 0 1 0 0 LMNB1 4001 broad.mit.edu 37 5 126156699 126156699 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:126156699G>A ENST00000261366.5 + 7 1619 c.1258G>A c.(1258-1260)Gat>Aat p.D420N LMNB1_ENST00000460265.1_3'UTR NM_001198557.1|NM_005573.3 NP_001185486.1|NP_005564.1 P20700 LMNB1_HUMAN lamin B1 420 Tail. cellular component disassembly involved in apoptosis lamin filament|nuclear inner membrane protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.103)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903) GAAGAGGGTTGATGTGGAAGA 0.473000 16 70 0 0 1 0 0 ZFYVE27 118813 broad.mit.edu 37 10 99498404 99498404 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:99498404C>T ENST00000393677.4 + 2 374 c.170C>T c.(169-171)gCa>gTa p.A57V ZFYVE27_ENST00000337540.7_Missense_Mutation_p.A57V|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.A57V|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.A57V|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.A57V|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.A57V|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.A57V NM_144588.6 NP_653189.3 Q5T4F4 ZFY27_HUMAN zinc finger, FYVE domain containing 27 57 Necessary for interaction with RAB11A and function in neurite outgrowth. cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane metal ion binding|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 8 Colorectal(252;0.0846) Epithelial(162;7.08e-10)|all cancers(201;5.18e-08) TTGAAGGATGCAGGTGATGGT 0.507000 6 372 0 0 1 0 0 VWA2 340706 broad.mit.edu 37 10 116042303 116042303 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:116042303G>T ENST00000603594.1 + 9 1183 c.862G>T c.(862-864)Gcc>Tcc p.A288S VWA2_ENST00000392982.3_Missense_Mutation_p.A288S NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 288 extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) AACCCACCCTGCCACCTGCTA 0.493000 5 107 0.00307968 0.00322711 1 1 0 MACF1 23499 broad.mit.edu 37 1 39916725 39916725 + Splice_Site SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:39916725C>T ENST00000564288.1 + 85 21037 c.20258_splice c.e85-1 p.Q6754_splice MACF1_ENST00000545844.1_Splice_Site_p.Q4695_splice|MACF1_ENST00000372915.3_Splice_Site_p.Q6653_splice|MACF1_ENST00000317713.7_Splice_Site_p.Q4695_splice|MACF1_ENST00000567887.1_Splice_Site_p.Q6791_splice|MACF1_ENST00000361689.2_Splice_Site_p.Q4695_splice|MACF1_ENST00000539005.1_Splice_Site_p.Q4565_splice|MACF1_ENST00000289893.4_Splice_Site_p.Q5197_splice Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6761 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ATTTCTCAGGCAGCACAAGTT 0.473000 4 207 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129189922 129189922 + Silent SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrX:129189922C>T ENST00000540052.1 + 12 4991 c.4947C>T c.(4945-4947)acC>acT p.T1649T BCORL1_ENST00000218147.7_Silent_p.T1649T|BCORL1_ENST00000303743.5_Silent_p.T1723T|BCORL1_ENST00000359304.2_Silent_p.T1519T NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1649 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 TTGAAATCACCACCATGCCCA 0.592000 4 295 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39889745 39889745 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:39889745C>T ENST00000564288.1 + 61 16972 c.16195C>T c.(16195-16197)Ctt>Ttt p.L5399F MACF1_ENST00000545844.1_Missense_Mutation_p.L3337F|MACF1_ENST00000372915.3_Missense_Mutation_p.L5404F|MACF1_ENST00000317713.7_Missense_Mutation_p.L3337F|MACF1_ENST00000567887.1_Missense_Mutation_p.L5436F|MACF1_ENST00000361689.2_Missense_Mutation_p.L3337F|MACF1_ENST00000539005.1_Missense_Mutation_p.L3316F|MACF1_ENST00000289893.4_Missense_Mutation_p.L3839F Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5404 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGTAGACATGCTTCAAGCAGA 0.443000 6 227 0 0 1 0 0 ZNF155 7711 broad.mit.edu 37 19 44501183 44501183 + Nonsense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:44501183C>T ENST00000270014.2 + 5 1302 c.1174C>T c.(1174-1176)Cga>Tga p.R392* ZNF155_ENST00000590615.1_Nonsense_Mutation_p.R392*|RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000407951.2_Nonsense_Mutation_p.R403*|RP11-15A1.7_ENST00000586860.1_RNA NM_001260487.1|NM_198089.2 NP_001247416.1|NP_932355.2 Q12901 ZN155_HUMAN zinc finger protein 155 392 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) GAACCATCAGCGAGTCCACAG 0.408000 4 315 0 0 1 0 0 PPEF2 5470 broad.mit.edu 37 4 76817422 76817422 + Splice_Site SNP A A G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:76817422A>G ENST00000286719.7 - 2 412 c.e2+1 PPEF2_ENST00000510607.1_Splice_Site NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GGAAACACGTACCTCTCTCTG 0.507000 OREG0016229 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 356 0 0 1 0 0 FAM160A2 84067 broad.mit.edu 37 11 6245420 6245420 + Missense_Mutation SNP A A T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:6245420A>T ENST00000265978.4 - 3 555 c.197T>A c.(196-198)cTc>cAc p.L66H FAM160A2_ENST00000449352.2_Missense_Mutation_p.L66H|FAM160A2_ENST00000524416.1_Missense_Mutation_p.L66H NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 66 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CACAGCACTGAGATCGTCTGC 0.587000 4 302 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160885464 160885464 + Silent SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:160885464G>A ENST00000283243.7 - 5 1058 c.852C>T c.(850-852)agC>agT p.S284S PLA2R1_ENST00000392771.1_Silent_p.S284S NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 284 C-type lectin 1. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CTGTTTTACTGCTCATGTGCT 0.453000 3 33 0 0 1 0 0 RAB43 339122 broad.mit.edu 37 3 128840237 128840237 + Silent SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:128840237C>A ENST00000315150.5 - 1 396 c.96G>T c.(94-96)acG>acT p.T32T ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393307.1_Silent_p.T32T|RAB43_ENST00000393305.1_Silent_p.T32T|RAB43_ENST00000393304.1_Silent_p.T32T|RAB43_ENST00000476465.1_Silent_p.T32T|RAB43_ENST00000393308.1_Silent_p.T32T NM_001204888.1|NM_198490.2 NP_001191817.1|NP_940892.1 Q86YS6 RAB43_HUMAN RAB43, member RAS oncogene family 32 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding kidney(2)|liver(1)|lung(2)|skin(1) 6 GCACCACGCACGTCTTGCCCA 0.667000 3 10 0.014758 0.0153017 1 1 0 ACSL3 2181 broad.mit.edu 37 2 223782769 223782769 + Missense_Mutation SNP A A T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:223782769A>T ENST00000357430.3 + 6 1093 c.562A>T c.(562-564)Aca>Tca p.T188S AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S NM_004457.3 NP_004448.2 O95573 ACSL3_HUMAN acyl-CoA synthetase long-chain family member 3 188 long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2) 22 Renal(207;0.0183) Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864) Icosapent(DB00159) TTTAGTTGTTACATTATATGC 0.348000 T ETV1 prostate 5 135 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57866395 57866395 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:57866395G>A ENST00000393797.2 - 21 2563 c.2371C>T c.(2371-2373)Cca>Tca p.P791S ARHGAP9_ENST00000430041.2_Missense_Mutation_p.P517S|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P701S|ARHGAP9_ENST00000424809.2_3'UTR|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.P720S Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 720 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) TCCTGCTCTGGCCGAAACAGG 0.557000 4 120 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57970616 57970616 + Silent SNP C C T rs146703120 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:57970616C>T ENST00000455537.2 + 20 2545 c.2271C>T c.(2269-2271)caC>caT p.H757H KIF5A_ENST00000286452.5_Silent_p.H668H NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 757 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 GCGAAGAACACGAGAAGAGCA 0.488000 13 264 0 0 1 0 0 MNDA 4332 broad.mit.edu 37 1 158815659 158815659 + Missense_Mutation SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:158815659T>C ENST00000368141.4 + 5 1114 c.853T>C c.(853-855)Tct>Cct p.S285P NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 285 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) GGAAGCATCATCTGTGTCTGA 0.348000 3 100 0 0 1 0 0 TMX4 56255 broad.mit.edu 37 20 7982163 7982163 + Silent SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr20:7982163G>T ENST00000246024.2 - 3 533 c.318C>A c.(316-318)acC>acA p.T106T TMX4_ENST00000530935.1_5'UTR NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 106 Thioredoxin. cell redox homeostasis|electron transport chain|transport integral to membrane endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 CTGGGAGAGTGGTGACAAAGA 0.343000 4 12 0.00116845 0.00123755 1 1 0 PUS7L 83448 broad.mit.edu 37 12 44148483 44148483 + Missense_Mutation SNP A A G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:44148483A>G ENST00000416848.2 - 2 1054 c.566T>C c.(565-567)gTa>gCa p.V189A PUS7L_ENST00000553166.1_Missense_Mutation_p.V189A|PUS7L_ENST00000551923.1_Missense_Mutation_p.V189A|PUS7L_ENST00000344862.5_Missense_Mutation_p.V189A|PUS7L_ENST00000431332.3_Intron NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 189 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) GTTTTTTCCTACAGTTACTAA 0.338000 3 253 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135286243 135286243 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr7:135286243G>T ENST00000285968.6 + 17 2526 c.2500G>T c.(2500-2502)Gcc>Tcc p.A834S NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 834 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TGACACCTATGCCCCCTTTCC 0.398000 17 323 5.03518e-11 5.76704e-11 1 1 0 CYP46A1 10858 broad.mit.edu 37 14 100165849 100165849 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr14:100165849G>A ENST00000261835.3 + 4 433 c.329G>A c.(328-330)cGt>cAt p.R110H CYP46A1_ENST00000423126.2_Missense_Mutation_p.R13H NM_006668.1 NP_006659.1 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46, subfamily A, polypeptide 1 110 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1) 25 Melanoma(154;0.0866)|all_epithelial(191;0.179) AAGATGTACCGTGCGCTCCAG 0.537000 8 687 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57542762 57542762 + Splice_Site SNP A A T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:57542762A>T ENST00000338962.4 + 7 1090 c.e7-1 LRP1_ENST00000554174.1_Intron|LRP1_ENST00000553277.1_Intron|LRP1_ENST00000243077.3_Intron Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ttatttttttaGTGTGTGTGT 0.468000 3 51 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2817632 2817632 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr16:2817632G>A ENST00000301740.8 + 11 7652 c.7103G>A c.(7102-7104)aGt>aAt p.S2368N SRRM2_ENST00000574593.1_3'UTR NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2368 Ala-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 AGCCTCACCAGTGCTAGGATG 0.627000 4 94 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152278999 152278999 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:152278999C>T ENST00000368799.1 - 3 8398 c.8363G>A c.(8362-8364)gGa>gAa p.G2788E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2788 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCCGGGTGTCCACGAATGGT 0.602000 Ichthyosis 7 221 0 0 1 0 0 PTTG1 9232 broad.mit.edu 37 5 159851297 159851297 + Silent SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:159851297C>T ENST00000393964.1 + 3 733 c.330C>T c.(328-330)gcC>gcT p.A110A PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000520452.1_Silent_p.A110A|PTTG1_ENST00000352433.5_Silent_p.A110A O95997 PTTG1_HUMAN pituitary tumor-transforming 1 110 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter cytosol|nucleus cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding breast(1)|large_intestine(1)|lung(4) 6 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104) CAGATGATGCCTATCCAGAAA 0.383000 12 596 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35547638 35547638 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr9:35547638C>T ENST00000455600.1 + 2 1689 c.1120C>T c.(1120-1122)Cca>Tca p.P374S NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 374 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) TGAGCCGTGCCCAGCAGTGGC 0.547000 4 108 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43837052 43837052 + Missense_Mutation SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr20:43837052C>A ENST00000372781.3 + 2 1171 c.1114C>A c.(1114-1116)Cgc>Agc p.R372S SEMG1_ENST00000244069.6_Missense_Mutation_p.R312S NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) TGTATCCCAACGCAGTATTTA 0.418000 5 194 0.00116845 0.00123755 1 1 0 SNX25 83891 broad.mit.edu 37 4 186263224 186263224 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:186263224C>T ENST00000504273.1 + 12 1943 c.1649C>T c.(1648-1650)cCc>cTc p.P550L SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.P550L Q9H3E2 SNX25_HUMAN sorting nexin 25 550 PX. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) TGGACGGTCCCCAGAAGGCTC 0.438000 35 247 0 0 1 0 0 CLASP1 23332 broad.mit.edu 37 2 122161947 122161947 + Splice_Site SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:122161947C>A ENST00000263710.4 - 26 3122 c.2733_splice c.e26+1 p.K911_splice CLASP1_ENST00000541859.1_Splice_Site_p.K644_splice|CLASP1_ENST00000397587.3_Splice_Site_p.K891_splice|CLASP1_ENST00000541377.1_Splice_Site_p.K889_splice|CLASP1_ENST00000455322.2_Splice_Site_p.K883_splice|CLASP1_ENST00000409078.3_Splice_Site_p.K883_splice|CLASP1_ENST00000545861.1_Splice_Site_p.K658_splice NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 911 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) TCAGACTTACCTTGCTATGAG 0.428000 3 44 1 1 1 1 0 EDC4 23644 broad.mit.edu 37 16 67914536 67914536 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr16:67914536G>A ENST00000358933.5 + 18 2413 c.2174G>A c.(2173-2175)aGc>aAc p.S725N NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 725 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) GCCTCCCCTAGCCGCACTCGT 0.632000 4 171 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194157925 194157925 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:194157925G>T ENST00000439040.1 - 20 2810 c.2019C>A c.(2017-2019)aaC>aaA p.N673K ATP13A3_ENST00000256031.4_Missense_Mutation_p.N673K Q9H7F0 AT133_HUMAN ATPase type 13A3 673 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CTTCCAAAACGTTTTGAAAAT 0.348000 10 213 1.76689e-08 1.96654e-08 1 1 0 SLC44A4 80736 broad.mit.edu 37 6 31842504 31842504 + Nonsense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr6:31842504C>T ENST00000544672.1 - 6 530 c.234G>A c.(232-234)tgG>tgA p.W78* SLC44A4_ENST00000375562.4_Intron|SLC44A4_ENST00000229729.6_Nonsense_Mutation_p.W154*|SLC44A4_ENST00000465707.1_5'UTR NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 154 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) TCACCATATTCCAGGGTACCC 0.532000 29 69 0 0 1 0 0 OR2AK2 391191 broad.mit.edu 37 1 248128995 248128995 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:248128995C>T ENST00000366480.3 + 1 461 c.362C>T c.(361-363)gCc>gTc p.A121V OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GTGTTCTTGGCCCTTGGTGGA 0.443000 5 451 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63030431 63030431 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr15:63030431C>T ENST00000561311.1 + 29 3816 c.3586C>T c.(3586-3588)Cac>Tac p.H1196Y TLN2_ENST00000306829.6_Missense_Mutation_p.H1196Y|TLN2_ENST00000559908.1_3'UTR Q9Y4G6 TLN2_HUMAN talin 2 1196 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 AGCCGTCTCACACTCCTTGAA 0.493000 6 542 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35969399 35969399 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrX:35969399G>A ENST00000297866.5 + 5 874 c.808G>A c.(808-810)Gca>Aca p.A270T NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 270 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 AATTAAACATGCACGTGTATA 0.418000 39 67 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2963985 2963985 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr7:2963985G>A ENST00000396946.4 - 15 2225 c.1822C>T c.(1822-1824)Cgc>Tgc p.R608C NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 608 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) AAGGAGTAGCGTTCGTGACTG 0.642000 Mis DLBCL 3 122 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137756470 137756470 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:137756470C>T ENST00000314358.5 + 15 3991 c.3791C>T c.(3790-3792)gCa>gTa p.A1264V KDM3B_ENST00000394866.1_Missense_Mutation_p.A920V|KDM3B_ENST00000542866.1_Missense_Mutation_p.A296V|KDM3B_ENST00000508386.1_3'UTR NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1264 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 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 AACTCCACTGCAAAGGTCTCT 0.512000 5 431 0 0 1 0 0 PPARG 5468 broad.mit.edu 37 3 12421288 12421288 + Missense_Mutation SNP C C G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:12421288C>G ENST00000397026.2 + 4 485 c.102C>G c.(100-102)caC>caG p.H34Q PPARG_ENST00000397012.2_Missense_Mutation_p.H28Q|PPARG_ENST00000539812.1_Missense_Mutation_p.H26Q|PPARG_ENST00000309576.6_Missense_Mutation_p.H28Q|PPARG_ENST00000397000.1_Missense_Mutation_p.H28Q|PPARG_ENST00000397010.2_Missense_Mutation_p.H28Q|PPARG_ENST00000287820.6_Missense_Mutation_p.H56Q|PPARG_ENST00000397015.2_Missense_Mutation_p.H28Q P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 56 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) TGGAAGACCACTCCCACTCCT 0.458000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 4 276 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78225248 78225248 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:78225248G>A ENST00000397909.2 + 1 180 c.7G>A c.(7-9)Gtt>Att p.V3I NAV3_ENST00000266692.7_Missense_Mutation_p.V3I|NAV3_ENST00000228327.6_Missense_Mutation_p.V3I|NAV3_ENST00000536525.2_Missense_Mutation_p.V3I Q8IVL0 NAV3_HUMAN neuron navigator 3 3 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 AGCCATGCCTGTTCTTGGGGT 0.443000 HNSCC(70;0.22) 7 675 0 0 1 0 0 TRIM37 4591 broad.mit.edu 37 17 57125063 57125063 + Missense_Mutation SNP C C A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr17:57125063C>A ENST00000376149.3 - 16 2091 c.1282G>T c.(1282-1284)Gat>Tat p.D428Y TRIM37_ENST00000262294.7_Missense_Mutation_p.D550Y|TRIM37_ENST00000393066.3_Missense_Mutation_p.D550Y|TRIM37_ENST00000393065.2_Missense_Mutation_p.D516Y O94972 TRI37_HUMAN tripartite motif containing 37 550 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TCATCAATATCATTTTCTTCT 0.353000 Mulibrey Nanism 5 60 0.00116845 0.00134625 0.001168 1 0 ARAP2 116984 broad.mit.edu 37 4 36069579 36069579 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:36069579G>A ENST00000303965.4 - 33 5554 c.5065C>T c.(5065-5067)Cgg>Tgg p.R1689W NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1689 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 GTTCTTGACCGTTGTAGAACC 0.358000 15 285 0 0 0.004990 0 0 DEPDC7 91614 broad.mit.edu 37 11 33050304 33050304 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:33050304G>T ENST00000311388.3 + 4 1097 c.721G>T c.(721-723)Gat>Tat p.D241Y DEPDC7_ENST00000241051.3_Missense_Mutation_p.D250Y NM_139160.2 NP_631899.2 Q96QD5 DEPD7_HUMAN DEP domain containing 7 250 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 TAACTATCTGGATCGAGGGAT 0.403000 26 174 1.17739e-12 1.45121e-12 0.005443 1 0 PELI1 57162 broad.mit.edu 37 2 64323337 64323337 + Silent SNP T T C TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:64323337T>C ENST00000358912.4 - 6 1054 c.612A>G c.(610-612)ggA>ggG p.G204G NM_020651.3 NP_065702.2 Q96FA3 PELI1_HUMAN pellino E3 ubiquitin protein ligase 1 204 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 19 CTCTCCATATTCCAGGCTTGG 0.438000 117 80 0 0 0.003610 0 0 NUP210L 91181 broad.mit.edu 37 1 154067513 154067513 + Silent SNP C C T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:154067513C>T ENST00000368559.3 - 15 2156 c.2085G>A c.(2083-2085)gcG>gcA p.A695A NUP210L_ENST00000271854.3_Silent_p.A695A NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 695 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) CTGTCTTCTCCGCATTCAATT 0.473000 8 65 0 0 0.003080 0 0 TECTA 7007 broad.mit.edu 37 11 120984322 120984322 + Missense_Mutation SNP G G A rs150098939 byFrequency TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:120984322G>A ENST00000392793.1 + 6 956 c.685G>A c.(685-687)Gag>Aag p.E229K TECTA_ENST00000264037.2_Missense_Mutation_p.E229K O75443 TECTA_HUMAN tectorin alpha 229 NIDO. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AAGAACCCCCGAGATCGTGAA 0.478000 5 149 0 0 0.000602 0 0 ARNT 405 broad.mit.edu 37 1 150804293 150804293 + Splice_Site SNP C C T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:150804293C>T ENST00000358595.5 - 10 1156 c.e10+1 ARNT_ENST00000354396.2_Splice_Site|ARNT_ENST00000515192.1_Splice_Site|ARNT_ENST00000505755.1_Splice_Site|ARNT_ENST00000468970.1_5'UTR NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) CACTTTCTTACCTGCTGGGGG 0.438000 T ETV6 AML 5 63 0 0 0.000602 0 0 MAX 4149 broad.mit.edu 37 14 65544756 65544756 + Splice_Site SNP T T C TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr14:65544756T>C ENST00000284165.6 - 4 320 c.e4-2 MAX_ENST00000557746.1_Splice_Site|MAX_ENST00000556443.1_Splice_Site|MAX_ENST00000555932.1_Intron|MAX_ENST00000556979.1_Splice_Site|MAX_ENST00000555667.1_Splice_Site|MAX_ENST00000555419.1_Splice_Site|MAX_ENST00000358664.4_Splice_Site|MAX_ENST00000358402.4_Splice_Site|MAX_ENST00000557277.1_Splice_Site|MAX_ENST00000341653.2_Intron NM_145113.1 NP_660088.1 P61244 MAX_HUMAN MYC associated factor X transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 17 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) CCGGGATGCCTGTGGCAATAT 0.498000 22 96 0 0 0.001523 0 0 CXorf22 170063 broad.mit.edu 37 X 35969399 35969399 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrX:35969399G>A ENST00000297866.5 + 5 874 c.808G>A c.(808-810)Gca>Aca p.A270T NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 270 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 AATTAAACATGCACGTGTATA 0.418000 18 59 0 0 0.006122 0 0 NID1 4811 broad.mit.edu 37 1 236212062 236212062 + Silent SNP G G A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:236212062G>A ENST00000264187.6 - 2 535 c.453C>T c.(451-453)agC>agT p.S151S NID1_ENST00000366595.3_Silent_p.S151S NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 151 NIDO. cell-matrix adhesion basement membrane calcium ion binding p.S151S(1) breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CAACCACCGCGCTACTAGGCT 0.577000 9 66 0 0 0.004482 0 0 RAB43 339122 broad.mit.edu 37 3 128840237 128840237 + Silent SNP C C A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:128840237C>A ENST00000315150.5 - 1 396 c.96G>T c.(94-96)acG>acT p.T32T ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393304.1_Silent_p.T32T|RAB43_ENST00000393305.1_Silent_p.T32T|RAB43_ENST00000393308.1_Silent_p.T32T|RAB43_ENST00000476465.1_Silent_p.T32T|RAB43_ENST00000393307.1_Silent_p.T32T NM_001204888.1|NM_198490.2 NP_001191817.1|NP_940892.1 Q86YS6 RAB43_HUMAN RAB43, member RAS oncogene family 32 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding kidney(2)|liver(1)|lung(2)|skin(1) 6 GCACCACGCACGTCTTGCCCA 0.667000 9 19 0.00621372 0.00700696 0.006214 1 0 MT-ND5 4540 broad.mit.edu 37 MT 12602 12602 + Missense_Mutation SNP T T C TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrM:12602T>C ENST00000361567.2 + 1 266 c.266T>C c.(265-267)tTc>tCc p.F89S P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 89 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) CTCCATAATATTCATCCCTGT 0.393000 8 138 0 0 0.004482 0 0 ITGA5 3678 broad.mit.edu 37 12 54797447 54797447 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:54797447C>T ENST00000293379.4 - 17 1999 c.1738G>A c.(1738-1740)Gct>Act p.A580T RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 580 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 TCCTCTCGAGCCCCATTCTGG 0.627000 27 203 0 0 0.004656 0 0 ATP9A 10079 broad.mit.edu 37 20 50226667 50226667 + Missense_Mutation SNP G G C TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr20:50226667G>C ENST00000338821.5 - 24 2873 c.2609C>G c.(2608-2610)cCt>cGt p.P870R ATP9A_ENST00000402822.1_Missense_Mutation_p.P749R|ATP9A_ENST00000311637.5_Missense_Mutation_p.P734R NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 870 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 TTGATAGAGAGGGACGGAGGC 0.423000 9 88 0 0 0.004482 0 0 ANKRD28 23243 broad.mit.edu 37 3 15726732 15726732 + Splice_Site SNP C C A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:15726732C>A ENST00000399451.2 - 21 2667 c.e21+1 ANKRD28_ENST00000497037.1_Splice_Site|ANKRD28_ENST00000383777.1_Splice_Site NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 GTATACTTAACCATTGTAGCA 0.373000 40 273 2.40579e-17 3.10993e-17 0.006230 1 0 FREM2 341640 broad.mit.edu 37 13 39265811 39265811 + Silent SNP C C T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr13:39265811C>T ENST00000280481.7 + 1 4546 c.4330C>T c.(4330-4332)Cta>Tta p.L1444L NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1444 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AACAGACCTACTAAGCACTAG 0.473000 20 177 0 0 0.002299 0 0 QPCT 25797 broad.mit.edu 37 2 37586796 37586796 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:37586796C>T ENST00000338415.3 + 3 499 c.341C>T c.(340-342)cCc>cTc p.P114L QPCT_ENST00000537448.1_Missense_Mutation_p.P65L NM_012413.3 NP_036545.1 Q16769 QPCT_HUMAN glutaminyl-peptide cyclotransferase 114 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis extracellular region acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2) 17 Ovarian(717;0.051)|all_hematologic(82;0.21) AGTCAGACACCCTATGGGTAC 0.443000 48 29 0 0 0.003610 0 0 MNDA 4332 broad.mit.edu 37 1 158815659 158815659 + Missense_Mutation SNP T T C TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:158815659T>C ENST00000368141.4 + 5 1114 c.853T>C c.(853-855)Tct>Cct p.S285P NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 285 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) GGAAGCATCATCTGTGTCTGA 0.348000 5 129 0 0 0.001168 0 0 SLC12A2 6558 broad.mit.edu 37 5 127486938 127486938 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:127486938C>T ENST00000262461.2 + 14 2302 c.2113C>T c.(2113-2115)Cgt>Tgt p.R705C SLC12A2_ENST00000343225.4_Missense_Mutation_p.R705C NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 705 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) GTTAGGATGGCGTCCTGCATT 0.348000 33 259 0 0 0.004878 0 0 DSCAML1 57453 broad.mit.edu 37 11 117392010 117392010 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:117392010G>A ENST00000321322.6 - 6 1229 c.1228C>T c.(1228-1230)Cgc>Tgc p.R410C DSCAML1_ENST00000527706.1_Missense_Mutation_p.R140C NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 350 Ig-like C2-type 5. 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) TCCGTGTTGCGATACCAGCGG 0.627000 82 136 0 0 0.003610 0 0 MYO16 23026 broad.mit.edu 37 13 109379873 109379873 + Missense_Mutation SNP C C T rs150729745 by1000genomes TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr13:109379873C>T ENST00000356711.2 + 4 509 c.383C>T c.(382-384)aCg>aTg p.T128M MYO16_ENST00000251041.5_Missense_Mutation_p.T128M|MYO16_ENST00000357550.2_Missense_Mutation_p.T128M NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 128 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity p.T128M(1) NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GACTTCTGGACGCCCATGCAC 0.418000 25 125 0 0 0.002780 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69046326 69046326 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:69046326G>A ENST00000295381.3 + 9 1491 c.1072G>A c.(1072-1074)Gat>Aat p.D358N ARHGAP25_ENST00000467265.1_Missense_Mutation_p.D319N|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.D352N|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.D52N|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.D352N|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.D359N|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.D351N NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 358 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 CAAGTCCAAGGATATACCCCT 0.498000 8 285 0 0 0.004482 0 0 MT-CO3 4514 broad.mit.edu 37 MT 9384 9384 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrM:9384G>A ENST00000362079.2 + 1 178 c.178G>A c.(178-180)Gat>Aat p.60_60insN mitochondrially encoded cytochrome c oxidase III breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1) 27 AATGGTGGCGCGATGTAACAC 0.458000 5 148 0 0 0.001168 0 0 MYH2 4620 broad.mit.edu 37 17 10435042 10435042 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr17:10435042G>A ENST00000245503.5 - 22 2989 c.2605C>T c.(2605-2607)Ctt>Ttt p.L869F CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L869F|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 869 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GACTTGGCAAGTTCGTCTTTA 0.423000 9 184 0 0 0.006214 0 0 ALG13 79868 broad.mit.edu 37 X 111002972 111002972 + Silent SNP G G A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrX:111002972G>A ENST00000394780.3 + 27 3171 c.3159G>A c.(3157-3159)ccG>ccA p.P1053P ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Silent_p.P870P NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 1053 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 ATACTTTTCCGAATGCTGATT 0.408000 4 28 0 0 0.000248 0 0 MT-TL1 0 broad.mit.edu 37 MT 3244 3244 + RNA SNP G G A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrM:3244G>A ENST00000386347.1 + 0 15 aagatggcagagcccggtaat 0.438000 85 41 0 0 0.003610 0 0 AHNAK 79026 broad.mit.edu 37 11 62291443 62291443 + Missense_Mutation SNP G G C TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:62291443G>C ENST00000378024.4 - 5 10720 c.10446C>G c.(10444-10446)ttC>ttG p.F3482L AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3482 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CAGACACACTGAATTTGGGCA 0.453000 45 173 0 0 0.002522 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 3 27 0 0 0.004672 0 0 C6orf10 10665 broad.mit.edu 37 6 32260989 32260989 + Silent SNP T T C TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr6:32260989T>C ENST00000375015.4 - 26 1658 c.1458A>G c.(1456-1458)caA>caG p.Q486Q C6orf10_ENST00000447241.2_Silent_p.Q487Q|C6orf10_ENST00000375007.4_Silent_p.Q485Q|C6orf10_ENST00000533191.1_Silent_p.Q485Q|C6orf10_ENST00000527965.1_Silent_p.Q471Q|C6orf10_ENST00000442822.2_Intron Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 487 Lys-rich. integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 CCTTCTTTTCTTGGGCTTCCT 0.378000 114 262 0 0 0.003610 0 0 SALL3 27164 broad.mit.edu 37 18 76753036 76753036 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr18:76753036G>A ENST00000536229.3 + 1 1355 c.646G>A c.(646-648)Ggg>Agg p.G216R SALL3_ENST00000537592.2_Missense_Mutation_p.G349R|SALL3_ENST00000575389.2_Missense_Mutation_p.G349R Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 349 Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCTGGCCCCGGGGTCCCTGCT 0.771000 3 10 0 0 0.000248 0 0 TFRC 7037 broad.mit.edu 37 3 195778819 195778819 + Missense_Mutation SNP C C A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:195778819C>A ENST00000360110.4 - 19 2446 c.2277G>T c.(2275-2277)gaG>gaT p.E759D TFRC_ENST00000392396.3_Missense_Mutation_p.E759D|TFRC_ENST00000420415.1_Missense_Mutation_p.E678D|TFRC_ENST00000535031.1_Missense_Mutation_p.E477D|TFRC_ENST00000540528.1_3'UTR NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 759 Ligand-binding. cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) ACATTTAAAACTCATTGTCAA 0.438000 T BCL6 NHL 56 123 3.89483e-19 5.16065e-19 0.003610 1 0 KRT85 3891 broad.mit.edu 37 12 52760942 52760942 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:52760942C>T ENST00000257901.3 - 1 323 c.248G>A c.(247-249)cGc>cAc p.R83H NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 83 Head. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) GCCCCCGGAGCGGTAGCCGAA 0.692000 9 60 0 0 0.003163 0 0 RNASE2 6036 broad.mit.edu 37 14 21424080 21424080 + Silent SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr14:21424080C>T ENST00000304625.2 + 2 240 c.150C>T c.(148-150)tgC>tgT p.C50C NM_002934.2 NP_002925.1 P10153 RNAS2_HUMAN ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) 50 chemotaxis|RNA catabolic process extracellular region|lysosome nucleic acid binding|pancreatic ribonuclease activity breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 17 all_cancers(95;0.00381) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) CCCAGCAATGCACCAATGCAA 0.438000 4 210 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43323361 43323361 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr6:43323361G>A ENST00000361428.2 - 4 1788 c.1711C>T c.(1711-1713)Ccg>Tcg p.P571S ZNF318_ENST00000318149.3_Missense_Mutation_p.P571S NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 571 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) GCTGAAGACGGCAGGGAGCTT 0.478000 6 538 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36069579 36069579 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr4:36069579G>A ENST00000303965.4 - 33 5554 c.5065C>T c.(5065-5067)Cgg>Tgg p.R1689W NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1689 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 GTTCTTGACCGTTGTAGAACC 0.358000 4 244 0 0 1 0 0 NUCB2 4925 broad.mit.edu 37 11 17323307 17323307 + Missense_Mutation SNP A A C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr11:17323307A>C ENST00000529010.1 + 5 488 c.269A>C c.(268-270)aAa>aCa p.K90T NUCB2_ENST00000458064.2_Missense_Mutation_p.K90T|NUCB2_ENST00000323688.6_Missense_Mutation_p.K90T NM_005013.2 NP_005004.1 P80303 NUCB2_HUMAN nucleobindin 2 90 cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane calcium ion binding|DNA binding kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 AGGCTAAGCAAAGAACTGGAT 0.328000 4 267 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154560618 154560618 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:154560618C>T ENST00000368474.4 - 11 3201 c.3002G>A c.(3001-3003)cGc>cAc p.R1001H ADAR_ENST00000368471.3_Missense_Mutation_p.R706H|ADAR_ENST00000292205.5_Missense_Mutation_p.R1044H NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 1001 A to I editase. adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) CACCTTGGTGCGGAGCTTTCC 0.562000 7 485 0 0 1 0 0 KANSL1L 151050 broad.mit.edu 37 2 211019250 211019250 + Silent SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr2:211019250T>C ENST00000281772.9 - 2 320 c.57A>G c.(55-57)ccA>ccG p.P19P KANSL1L_ENST00000429908.2_5'UTR|KANSL1L_ENST00000457374.1_Silent_p.P19P|KANSL1L_ENST00000418791.1_Silent_p.P19P|KANSL1L_ENST00000452086.1_Silent_p.P19P NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 19 CCATGGTACTTGGCAAAGATG 0.433000 4 171 0 0 1 0 0 TRAF3IP1 26146 broad.mit.edu 37 2 239234537 239234537 + Nonsense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr2:239234537C>T ENST00000373327.4 + 3 502 c.280C>T c.(280-282)Cga>Tga p.R94* TRAF3IP1_ENST00000391993.3_Nonsense_Mutation_p.R94*|TRAF3IP1_ENST00000391994.2_Nonsense_Mutation_p.R94* NM_015650.3 NP_056465.2 Q8TDR0 MIPT3_HUMAN TNF receptor-associated factor 3 interacting protein 1 94 Abolishes microtubules-binding when missing. cytoplasm|cytoskeleton protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2) 23 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) CAAACCAGCCCGAATCGTGGC 0.473000 4 210 0 0 1 0 0 DIS3 22894 broad.mit.edu 37 13 73335578 73335578 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr13:73335578G>T ENST00000377767.4 - 19 2693 c.2593C>A c.(2593-2595)Cca>Aca p.P865T DIS3_ENST00000377780.4_Missense_Mutation_p.P835T|DIS3_ENST00000545453.1_Missense_Mutation_p.P703T NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 865 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) CCATACTTTGGAATTAATACC 0.318000 Multiple Myeloma(4;0.011) 12 66 1.36491e-13 1.5833e-13 1 1 0 RNF40 9810 broad.mit.edu 37 16 30780684 30780684 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr16:30780684G>A ENST00000324685.6 + 16 2860 c.2425G>A c.(2425-2427)Gag>Aag p.E809K RNF40_ENST00000402121.3_Missense_Mutation_p.E501K|RNF40_ENST00000357890.5_Missense_Mutation_p.E709K|RNF40_ENST00000563683.1_Missense_Mutation_p.E769K|RNF40_ENST00000567365.1_3'UTR NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586.1 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 809 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) GGAGAAGGATGAGTTGGGCGA 0.582000 6 78 0 0 1 0 0 CD8A 925 broad.mit.edu 37 2 87013077 87013077 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr2:87013077C>T ENST00000409511.2 - 9 1704 c.674G>A c.(673-675)gGa>gAa p.G225E CD8A_ENST00000538832.1_Missense_Mutation_p.G266E|CD8A_ENST00000283635.3_Missense_Mutation_p.G225E|CD8A_ENST00000352580.3_Missense_Mutation_p.G188E|CD8A_ENST00000409781.1_Missense_Mutation_p.G188E|CD8A_ENST00000456996.2_Missense_Mutation_p.G188E NM_001145873.1 NP_001139345.1 P01732 CD8A_HUMAN CD8a molecule 225 antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 8 GGGCTTGTCTCCCGATTTGAC 0.542000 6 150 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42063104 42063104 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr7:42063104C>T ENST00000395925.3 - 10 1544 c.1460G>A c.(1459-1461)tGc>tAc p.C487Y GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 487 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 CTCCCTCGCGCAGCCTTCCCA 0.532000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 4 175 0 0 1 0 0 DPH7 92715 broad.mit.edu 37 9 140469236 140469236 + Silent SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr9:140469236C>T ENST00000277540.2 - 4 592 c.435G>A c.(433-435)ttG>ttA p.L145L DPH7_ENST00000479650.1_5'UTR NM_138778.2 NP_620133.1 diphthamide biosynthesis 7 AATCTAGGGACAAAGCCAGAC 0.537000 14 91 0 0 1 0 0 SCUBE2 57758 broad.mit.edu 37 11 9077401 9077401 + Silent SNP A A G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr11:9077401A>G ENST00000457346.2 - 10 1220 c.1146T>C c.(1144-1146)ccT>ccC p.P382P SCUBE2_ENST00000309263.3_Silent_p.P382P|SCUBE2_ENST00000520467.1_Silent_p.P382P|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Silent_p.P382P Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 382 EGF-like 8; calcium-binding (Potential). extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) CAAATGTGCCAGGGTGGTTGA 0.552000 8 663 0 0 1 0 0 TPGS2 25941 broad.mit.edu 37 18 34380218 34380218 + Silent SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr18:34380218G>A ENST00000334295.4 - 5 866 c.439C>T c.(439-441)Ctg>Ttg p.L147L TPGS2_ENST00000587129.1_Silent_p.L147L|TPGS2_ENST00000590652.1_5'UTR|TPGS2_ENST00000383056.3_Silent_p.L104L|TPGS2_ENST00000593035.1_Silent_p.L112L|TPGS2_ENST00000589049.1_Silent_p.L147L|TPGS2_ENST00000590842.1_Silent_p.L147L NM_015476.2 NP_056291.2 Q68CL5 TPGS2_HUMAN tubulin polyglutamylase complex subunit 2 147 cytoplasm|microtubule CATGAATCCAGCTCAAATATC 0.448000 5 946 0 0 1 0 0 PHKG2 5261 broad.mit.edu 37 16 30762868 30762868 + Splice_Site SNP A A G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr16:30762868A>G ENST00000563588.1 + 4 510 c.e4-1 PHKG2_ENST00000328273.7_Splice_Site|PHKG2_ENST00000424889.3_Splice_Site NM_000294.2 NP_000285.1 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1)|skin(1) 2 Colorectal(24;0.198) CTCTCTCCCTAGTCACCCTCA 0.552000 4 492 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68973015 68973015 + Splice_Site SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr8:68973015G>A ENST00000288368.4 + 11 1616 c.e11+1 PREX2_ENST00000529398.1_Splice_Site NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 ATTCACCATGGTAATTACTTT 0.343000 3 91 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182853842 182853842 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:182853842G>A ENST00000367549.3 + 27 3465 c.3355G>A c.(3355-3357)Gct>Act p.A1119T DHX9_ENST00000485081.1_3'UTR NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 1119 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 CAAACAACCTGCTATCATCAG 0.473000 4 106 0 0 1 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37188240 37188240 + RNA SNP C C T rs34700711 by1000genomes TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr17:37188240C>T ENST00000425901.2 + 0 2082 NR_033753.2 ACAGTTCAACCTCTGGACCTG 0.512000 4 113 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71498410 71498410 + Splice_Site SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr4:71498410G>A ENST00000396073.3 + 5 491 c.e5+1 NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) CGGCCCACATGTAAGTTTTTC 0.318000 5 444 0 0 1 0 0 ATP9A 10079 broad.mit.edu 37 20 50226667 50226667 + Missense_Mutation SNP G G C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr20:50226667G>C ENST00000338821.5 - 24 2873 c.2609C>G c.(2608-2610)cCt>cGt p.P870R ATP9A_ENST00000311637.5_Missense_Mutation_p.P734R|ATP9A_ENST00000402822.1_Missense_Mutation_p.P749R NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 870 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 TTGATAGAGAGGGACGGAGGC 0.423000 5 132 0 0 1 0 0 PBX1 5087 broad.mit.edu 37 1 164776859 164776859 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:164776859C>T ENST00000420696.2 + 5 970 c.782C>T c.(781-783)cCc>cTc p.P261L PBX1_ENST00000540236.1_Missense_Mutation_p.P261L|PBX1_ENST00000401534.1_Missense_Mutation_p.P261L|PBX1_ENST00000560641.1_Missense_Mutation_p.P156L|PBX1_ENST00000367897.1_Missense_Mutation_p.P261L|PBX1_ENST00000559240.1_Missense_Mutation_p.P261L|PBX1_ENST00000540246.1_Missense_Mutation_p.P156L NM_001204961.1|NM_001204963.1|NM_002585.3 NP_001191890.1|NP_001191892.1|NP_002576.1 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 261 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 AACCCTTACCCCAGTGAGGAA 0.488000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 4 172 0 0 1 0 0 USP54 159195 broad.mit.edu 37 10 75301423 75301423 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr10:75301423C>T ENST00000339859.4 - 7 746 c.646G>A c.(646-648)Gcc>Acc p.A216T USP54_ENST00000428547.1_Intron|USP54_ENST00000408019.1_Missense_Mutation_p.A216T|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.A216T Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 216 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) ATGGTGCTGGCATTCTGCAGC 0.498000 32 106 0 0 1 0 0 ZNF749 388567 broad.mit.edu 37 19 57956010 57956010 + Silent SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr19:57956010G>A ENST00000334181.4 + 3 1744 c.1494G>A c.(1492-1494)ctG>ctA p.L498L AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 498 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) AGGCTCATCTGGTTGGTCACC 0.458000 4 225 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18845995 18845995 + RNA SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr22:18845995T>C ENST00000412938.1 + 0 3353 CATCCCGTCCTGCGCAGGCCG 0.592000 3 50 0 0 1 0 0 ZNF155 7711 broad.mit.edu 37 19 44501183 44501183 + Nonsense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr19:44501183C>T ENST00000270014.2 + 5 1302 c.1174C>T c.(1174-1176)Cga>Tga p.R392* ZNF155_ENST00000590615.1_Nonsense_Mutation_p.R392*|RP11-15A1.7_ENST00000589021.1_RNA|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Nonsense_Mutation_p.R403* NM_001260487.1|NM_198089.2 NP_001247416.1|NP_932355.2 Q12901 ZN155_HUMAN zinc finger protein 155 392 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) GAACCATCAGCGAGTCCACAG 0.408000 4 315 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117392010 117392010 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr11:117392010G>A ENST00000321322.6 - 6 1229 c.1228C>T c.(1228-1230)Cgc>Tgc p.R410C DSCAML1_ENST00000527706.1_Missense_Mutation_p.R140C NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 350 Ig-like C2-type 5. 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) TCCGTGTTGCGATACCAGCGG 0.627000 18 85 0 0 1 0 0 CCNL2 81669 broad.mit.edu 37 1 1333710 1333710 + Missense_Mutation SNP C C G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:1333710C>G ENST00000400809.3 - 3 381 c.376G>C c.(376-378)Gcc>Ccc p.A126P CCNL2_ENST00000408918.4_Missense_Mutation_p.A126P NM_030937.4 NP_112199.2 Q96S94 CCNL2_HUMAN cyclin L2 126 Cyclin-like 1. regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) TGGACACAGGCCATTGACACA 0.557000 3 53 0 0 1 0 0 ZNF749 388567 broad.mit.edu 37 19 57956012 57956012 + Missense_Mutation SNP T T A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr19:57956012T>A ENST00000334181.4 + 3 1746 c.1496T>A c.(1495-1497)gTt>gAt p.V499D AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 499 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) GCTCATCTGGTTGGTCACCAG 0.458000 4 222 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255477 15255477 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr10:15255477G>A ENST00000378116.4 - 8 2116 c.2110C>T c.(2110-2112)Cac>Tac p.H704Y NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 704 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GCCCGGGGGTGCGGAAGCGGC 0.562000 26 89 0 0 1 0 0 MMP3 4314 broad.mit.edu 37 11 102712941 102712941 + Missense_Mutation SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr11:102712941C>A ENST00000299855.5 - 4 825 c.569G>T c.(568-570)gGg>gTg p.G190V NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 190 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) TCCATTAATCCCTGGCCCAGG 0.383000 3 102 6.4e-05 7.0481e-05 1 1 0 FRG1B 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 5 282 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141571365 141571365 + Missense_Mutation SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr2:141571365T>C ENST00000389484.3 - 32 6191 c.5220A>G c.(5218-5220)atA>atG p.I1740M NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1740 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCACATAGTCTATCGATAGAC 0.343000 TSP Lung(27;0.18) 3 79 0 0 1 0 0 FAM134A 79137 broad.mit.edu 37 2 220045807 220045807 + Silent SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr2:220045807C>T ENST00000430297.2 + 6 800 c.664C>T c.(664-666)Ctg>Ttg p.L222L NM_024293.4 NP_077269.3 Q8NC44 F134A_HUMAN family with sequence similarity 134, member A 222 endoplasmic reticulum|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 19 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTGTGGCCCCTGGTGGTTTA 0.527000 6 99 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85642588 85642588 + Silent SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr4:85642588G>A ENST00000322366.6 - 46 7935 c.7528C>T c.(7528-7530)Ctg>Ttg p.L2510L WDFY3_ENST00000295888.4_Silent_p.L2527L Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2527 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AACAGGCGCAGTAAGGTAGCA 0.428000 4 379 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57114554 57114554 + Missense_Mutation SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr12:57114554C>A ENST00000454682.1 - 3 1041 c.760G>T c.(760-762)Gtt>Ttt p.V254F NACA_ENST00000550952.1_Missense_Mutation_p.V254F|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GAAATCAGAACTGAGGAAATG 0.517000 T BCL6 NHL 4 318 0.150653 0.153296 1 1 0 PLEK 5341 broad.mit.edu 37 2 68608017 68608017 + Missense_Mutation SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr2:68608017C>A ENST00000234313.7 + 3 540 c.361C>A c.(361-363)Cca>Aca p.P121T NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 121 actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) CATTCGACTGCCAGAAACCAT 0.453000 4 268 0.00116845 0.00123969 1 1 0 NSUN3 63899 broad.mit.edu 37 3 93802958 93802958 + Missense_Mutation SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:93802958C>A ENST00000314622.4 + 3 341 c.130C>A c.(130-132)Cta>Ata p.L44I NM_022072.3 NP_071355.1 Q9H649 NSUN3_HUMAN NOP2/Sun domain family, member 3 44 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 18 TAGGGAGATACTAACATCTCC 0.333000 3 78 1 1 1 1 0 MYH11 4629 broad.mit.edu 37 16 15842021 15842021 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr16:15842021C>T ENST00000338282.6 - 17 2169 c.2063G>A c.(2062-2064)gGc>gAc p.G688D MYH11_ENST00000452625.2_Missense_Mutation_p.G695D|MYH11_ENST00000300036.5_Missense_Mutation_p.G688D|MYH11_ENST00000396324.3_Missense_Mutation_p.G695D|MYH11_ENST00000576790.1_Missense_Mutation_p.G688D NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 688 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 ATCCAGCTTGCCGGACTGCAA 0.627000 T CBFB AML 4 190 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7757697 7757697 + Missense_Mutation SNP A A G rs138503341 byFrequency TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr5:7757697A>G ENST00000338316.4 + 16 2181 c.2092A>G c.(2092-2094)Atg>Gtg p.M698V ADCY2_ENST00000537121.1_Missense_Mutation_p.M518V NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 698 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 p.?(1) 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 CGTGTTCAACATGGTAAGTCC 0.542000 6 309 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236740143 236740143 + Silent SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:236740143C>A ENST00000366582.3 - 21 2976 c.2862G>T c.(2860-2862)ctG>ctT p.L954L HEATR1_ENST00000366581.2_Silent_p.L954L NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 954 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GATCTATTATCAGATAAAACG 0.443000 4 112 0.150653 0.153296 1 1 0 SRL 6345 broad.mit.edu 37 16 4242615 4242615 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr16:4242615C>T ENST00000399609.3 - 6 973 c.961G>A c.(961-963)Gtg>Atg p.V321M SRL_ENST00000537996.1_Missense_Mutation_p.V279M NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 780 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 TTCTCGATCACCTGATTCAGG 0.547000 122 364 0 0 1 0 0 RMI2 116028 broad.mit.edu 37 16 11444621 11444621 + Nonsense_Mutation SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr16:11444621G>T ENST00000572173.1 + 5 874 c.229G>T c.(229-231)Gaa>Taa p.E77* RMI2_ENST00000381820.2_Nonsense_Mutation_p.E77*|RMI2_ENST00000312499.5_Nonsense_Mutation_p.E140*|RMI2_ENST00000576027.1_3'UTR Q96E14 RMI2_HUMAN RecQ mediated genome instability 2 140 DNA replication nucleus DNA binding endometrium(1)|kidney(1)|ovary(1) 3 ACTGGAGGTAGAAGATTTACA 0.428000 13 285 1.61879e-10 1.84098e-10 1 1 0 GRID2 2895 broad.mit.edu 37 4 94693450 94693450 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr4:94693450G>A ENST00000282020.4 + 16 3083 c.2825G>A c.(2824-2826)cGc>cAc p.R942H GRID2_ENST00000510992.1_Missense_Mutation_p.R847H NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 942 Interaction with AP4M1 (By similarity). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ACTCTTAGCCGCACACTGTCA 0.493000 5 294 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34095955 34095955 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr20:34095955G>A ENST00000397527.1 + 32 7562 c.6842G>A c.(6841-6843)cGg>cAg p.R2281Q CEP250_ENST00000342580.4_Missense_Mutation_p.R2225Q NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 2281 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GCAGTGGCCCGGCTGGAGATT 0.582000 5 531 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123109143 123109143 + Splice_Site SNP A A T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr12:123109143A>T ENST00000333479.7 + 63 6692 c.e63-1 HCAR1_ENST00000356987.2_Intron|KNTC1_ENST00000534995.1_Splice_Site|KNTC1_ENST00000436959.3_Splice_Site|KNTC1_ENST00000450485.2_Splice_Site|KNTC1_ENST00000537348.1_Splice_Site NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TTGATTTTGTAGTTTAGATGA 0.463000 4 74 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50828642 50828642 + Silent SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr10:50828642C>T ENST00000395562.2 + 5 904 c.435C>T c.(433-435)ggC>ggT p.G145G CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000337653.2_Silent_p.G227G|CHAT_ENST00000395559.2_Silent_p.G109G|CHAT_ENST00000339797.1_Silent_p.G109G|CHAT_ENST00000351556.3_Silent_p.G109G|CHAT_ENST00000455728.2_Silent_p.G109G NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 227 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) ACTTCCCTGGCACCGATGACC 0.597000 5 218 0 0 1 0 0 CCDC73 493860 broad.mit.edu 37 11 32635105 32635105 + Missense_Mutation SNP G G C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr11:32635105G>C ENST00000335185.5 - 16 2802 c.2759C>G c.(2758-2760)aCa>aGa p.T920R NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 920 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) ACTGCTCGCTGTTTGACTTTC 0.373000 5 291 0 0 1 0 0 MORC4 79710 broad.mit.edu 37 X 106186409 106186409 + Missense_Mutation SNP T T G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chrX:106186409T>G ENST00000355610.4 - 15 1986 c.1712A>C c.(1711-1713)gAa>gCa p.E571A MORC4_ENST00000255495.7_Missense_Mutation_p.E571A|MORC4_ENST00000535534.1_Missense_Mutation_p.E319A NM_001085354.2|NM_024657.4 NP_001078823.1|NP_078933.3 Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 571 ATP binding|zinc ion binding endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 CTCCACCGGTTCTTCACCTAG 0.438000 12 196 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8999035 8999035 + Silent SNP G G C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr19:8999035G>C ENST00000397910.4 - 57 41012 c.40809C>G c.(40807-40809)ccC>ccG p.P13603P MUC16_ENST00000380951.5_Silent_p.P244P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13605 Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGCTAGTGGTGGGCACAGAGC 0.542000 6 153 0 0 1 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55048303 55048303 + Silent SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr19:55048303C>T ENST00000335056.3 + 5 908 c.870C>T c.(868-870)ggC>ggT p.G290G KIR3DX1_ENST00000482404.1_3'UTR endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) CAGTCCCTGGCGGGACCTATA 0.582000 6 159 0 0 1 0 0 ANGPT4 51378 broad.mit.edu 37 20 858848 858848 + Silent SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr20:858848G>A ENST00000381922.3 - 7 1278 c.1176C>T c.(1174-1176)gcC>gcT p.A392A ANGPT4_ENST00000546022.1_Silent_p.A392A NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 392 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 GTTCGTACTGGGCATAGGCCT 0.622000 4 217 0 0 1 0 0 NDUFV3 4731 broad.mit.edu 37 21 44324239 44324239 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr21:44324239G>T ENST00000354250.2 + 3 1186 c.1117G>T c.(1117-1119)Gat>Tat p.D373Y NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR NM_021075.3 NP_066553.3 P56181 NDUV3_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 0 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) AATCGTGGAAGATCAGATACC 0.572000 46 46 2.2618e-39 2.69557e-39 1 1 0 CCDC155 147872 broad.mit.edu 37 19 49900970 49900970 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr19:49900970G>A ENST00000447857.3 + 6 668 c.463G>A c.(463-465)Gag>Aag p.E155K NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 155 integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 CCCCAGACCCGAGCTGTACCT 0.637000 5 266 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187630625 187630625 + Missense_Mutation SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr4:187630625T>C ENST00000441802.2 - 2 566 c.357A>G c.(355-357)atA>atG p.I119M NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 119 Cadherin 1. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GTGCTTTCACTATCAATGTGT 0.408000 HNSCC(5;0.00058) 3 342 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154067513 154067513 + Silent SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:154067513C>T ENST00000368559.3 - 15 2156 c.2085G>A c.(2083-2085)gcG>gcA p.A695A NUP210L_ENST00000271854.3_Silent_p.A695A NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 695 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) CTGTCTTCTCCGCATTCAATT 0.473000 5 30 0 0 1 0 0 SALL2 6297 broad.mit.edu 37 14 22005036 22005036 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr14:22005036C>T ENST00000327430.3 - 1 314 c.20G>A c.(19-21)cGg>cAg p.R7Q SALL2_ENST00000317492.5_Missense_Mutation_p.R7Q NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 7 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) TTGGGGTTTCCGCTGCTTTCG 0.627000 4 330 0 0 1 0 0 DEFB116 245930 broad.mit.edu 37 20 29891091 29891091 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr20:29891091G>T ENST00000400549.1 - 2 232 c.233C>A c.(232-234)tCt>tAt p.S78Y NM_001037731.1 NP_001032820.1 Q30KQ4 DB116_HUMAN defensin, beta 116 78 defense response to bacterium extracellular region kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CACATTTTTAGAACTGGTTAT 0.403000 127 1703 5.19286e-32 6.10512e-32 1 1 0 SLC22A14 9389 broad.mit.edu 37 3 38347690 38347690 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:38347690C>T ENST00000273173.4 + 1 264 c.173C>T c.(172-174)gCg>gTg p.A58V SLC22A14_ENST00000448498.1_Missense_Mutation_p.A58V NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 58 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) CTCCTGGATGCGGTGGGGGAG 0.537000 5 216 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124380739 124380739 + Silent SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr10:124380739G>A ENST00000338354.3 + 41 5170 c.5064G>A c.(5062-5064)tcG>tcA p.S1688S DMBT1_ENST00000330163.4_Silent_p.S1060S|DMBT1_ENST00000344338.3_Silent_p.S1678S|DMBT1_ENST00000368956.2_Silent_p.S1060S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Silent_p.S1688S|DMBT1_ENST00000368955.3_Silent_p.S1678S Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1688 SRCR 13. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGGCCATGTCGGCCCCAGGAA 0.612000 7 333 0 0 1 0 0 FAM193A 8603 broad.mit.edu 37 4 2698154 2698154 + Missense_Mutation SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr4:2698154C>A ENST00000324666.5 + 16 2819 c.2468C>A c.(2467-2469)aCc>aAc p.T823N FAM193A_ENST00000382839.3_Missense_Mutation_p.T823N|FAM193A_ENST00000502458.1_Missense_Mutation_p.T845N|FAM193A_ENST00000505311.1_Missense_Mutation_p.T823N|FAM193A_ENST00000545951.1_Missense_Mutation_p.T823N NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 823 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 TTACGGCTGACCAAGAGGAAA 0.418000 4 145 0.00909568 0.00947694 1 1 0 DEPDC7 91614 broad.mit.edu 37 11 33050304 33050304 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr11:33050304G>T ENST00000311388.3 + 4 1097 c.721G>T c.(721-723)Gat>Tat p.D241Y DEPDC7_ENST00000241051.3_Missense_Mutation_p.D250Y NM_139160.2 NP_631899.2 Q96QD5 DEPD7_HUMAN DEP domain containing 7 250 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 TAACTATCTGGATCGAGGGAT 0.403000 11 143 7.03913e-09 7.90199e-09 1 1 0 PCLO 27445 broad.mit.edu 37 7 82545232 82545232 + Missense_Mutation SNP T T G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr7:82545232T>G ENST00000423517.2 - 7 12407 c.12070A>C c.(12070-12072)Agt>Cgt p.S4024R PCLO_ENST00000333891.8_Missense_Mutation_p.S4024R|PCLO_ENST00000437081.1_Missense_Mutation_p.S744R NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3955 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 GATATTGGACTGCTTGCCATG 0.383000 5 471 0 0 1 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40639318 40639318 + Missense_Mutation SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr17:40639318T>C ENST00000343619.4 + 10 1079 c.956T>C c.(955-957)tTg>tCg p.L319S ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.L326S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.L276S|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.L276S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.L319S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.L319S NM_001130021.1 NP_001123493.1 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 319 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) CAGAAATGCTTGATTGCAGAG 0.517000 12 257 0 0 1 0 0 PPARG 5468 broad.mit.edu 37 3 12421288 12421288 + Missense_Mutation SNP C C G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:12421288C>G ENST00000397026.2 + 4 485 c.102C>G c.(100-102)caC>caG p.H34Q PPARG_ENST00000397012.2_Missense_Mutation_p.H28Q|PPARG_ENST00000397015.2_Missense_Mutation_p.H28Q|PPARG_ENST00000397000.1_Missense_Mutation_p.H28Q|PPARG_ENST00000397010.2_Missense_Mutation_p.H28Q|PPARG_ENST00000539812.1_Missense_Mutation_p.H26Q|PPARG_ENST00000309576.6_Missense_Mutation_p.H28Q|PPARG_ENST00000287820.6_Missense_Mutation_p.H56Q P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 56 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) TGGAAGACCACTCCCACTCCT 0.458000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 4 276 0 0 1 0 0 LDHAL6A 160287 broad.mit.edu 37 11 18497053 18497053 + Silent SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr11:18497053T>C ENST00000280706.2 + 4 1256 c.459T>C c.(457-459)ttT>ttC p.F153F TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Silent_p.F153F NM_144972.4 NP_659409.2 Q6ZMR3 LDH6A_HUMAN lactate dehydrogenase A-like 6A 153 glycolysis cytoplasm binding|L-lactate dehydrogenase activity large_intestine(3)|lung(9)|urinary_tract(1) 13 NADH(DB00157) TGAGTGGATTTCCCAAAAACC 0.383000 4 197 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38938500 38938500 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:38938500G>A ENST00000450244.1 - 14 2437 c.2239C>T c.(2239-2241)Cgg>Tgg p.R747W SCN11A_ENST00000444237.2_Missense_Mutation_p.R747W|SCN11A_ENST00000456224.3_Missense_Mutation_p.R747W|SCN11A_ENST00000302328.3_Missense_Mutation_p.R747W Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 747 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.R747W(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TGCCAGTGCCGTAAACATGAG 0.488000 3 102 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184039116 184039116 + Silent SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:184039116T>C ENST00000342981.4 + 9 1158 c.744T>C c.(742-744)ccT>ccC p.P248P EIF4G1_ENST00000346169.2_Silent_p.P248P|EIF4G1_ENST00000427845.1_Silent_p.P161P|EIF4G1_ENST00000441154.1_Silent_p.P84P|EIF4G1_ENST00000434061.2_Silent_p.P52P|EIF4G1_ENST00000382330.3_Silent_p.P255P|EIF4G1_ENST00000424196.1_Silent_p.P255P|EIF4G1_ENST00000411531.1_Silent_p.P208P|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000414031.1_Silent_p.P208P|EIF4G1_ENST00000435046.2_Silent_p.P52P|EIF4G1_ENST00000319274.6_Silent_p.P248P|EIF4G1_ENST00000392537.2_Silent_p.P161P|EIF4G1_ENST00000352767.3_Silent_p.P255P|EIF4G1_ENST00000350481.5_Silent_p.P84P NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 248 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CAGGGCTGCCTGGCCCAGAGC 0.567000 13 195 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2976082 2976082 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr8:2976082G>A ENST00000520002.1 - 43 6827 c.6272C>T c.(6271-6273)cCa>cTa p.P2091L CSMD1_ENST00000400186.3_Missense_Mutation_p.P2091L|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2091L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2090L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2090L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2091L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2091 Sushi 12. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AAATGGGGGTGGATCTGGACA 0.408000 3 84 0 0 1 0 0 QPCT 25797 broad.mit.edu 37 2 37586796 37586796 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr2:37586796C>T ENST00000338415.3 + 3 499 c.341C>T c.(340-342)cCc>cTc p.P114L QPCT_ENST00000537448.1_Missense_Mutation_p.P65L NM_012413.3 NP_036545.1 Q16769 QPCT_HUMAN glutaminyl-peptide cyclotransferase 114 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis extracellular region acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2) 17 Ovarian(717;0.051)|all_hematologic(82;0.21) AGTCAGACACCCTATGGGTAC 0.443000 66 43 0 0 1 0 0 HRH2 3274 broad.mit.edu 37 5 175110623 175110623 + Silent SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr5:175110623G>A ENST00000231683.2 + 1 2160 c.387G>A c.(385-387)ctG>ctA p.L129L HRH2_ENST00000377291.2_Silent_p.L129L NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 129 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity p.L129L(1) breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) ACCCTGTGCTGGTCACCCCAG 0.557000 4 320 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109379873 109379873 + Missense_Mutation SNP C C T rs150729745 by1000genomes TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr13:109379873C>T ENST00000356711.2 + 4 509 c.383C>T c.(382-384)aCg>aTg p.T128M MYO16_ENST00000251041.5_Missense_Mutation_p.T128M|MYO16_ENST00000357550.2_Missense_Mutation_p.T128M NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 128 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity p.T128M(1) NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GACTTCTGGACGCCCATGCAC 0.418000 79 199 0 0 1 0 0 LMNB1 4001 broad.mit.edu 37 5 126156695 126156695 + Silent SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr5:126156695G>A ENST00000261366.5 + 7 1615 c.1254G>A c.(1252-1254)agG>agA p.R418R LMNB1_ENST00000460265.1_3'UTR NM_001198557.1|NM_005573.3 NP_001185486.1|NP_005564.1 P20700 LMNB1_HUMAN lamin B1 418 Tail. cellular component disassembly involved in apoptosis lamin filament|nuclear inner membrane protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.103)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903) AGCGGAAGAGGGTTGATGTGG 0.478000 16 69 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125850328 125850328 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:125850328C>T ENST00000393434.2 - 13 1871 c.1522G>A c.(1522-1524)Gcc>Acc p.A508T ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A407T|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A508T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A518T|ALDH1L1_ENST00000393431.2_Intron NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 508 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GCATCCAGGGCCTCAATGGTG 0.637000 5 71 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435766 158435766 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:158435766G>A ENST00000289451.2 + 1 495 c.415G>A c.(415-417)Ggg>Agg p.G139R NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) CATGGGACATGGGGTGTGTAT 0.552000 4 262 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4051776 4051776 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr7:4051776G>A ENST00000404826.2 + 16 2468 c.2329G>A c.(2329-2331)Gcc>Acc p.A777T SDK1_ENST00000389531.3_Missense_Mutation_p.A777T NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 777 Fibronectin type-III 2. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) AAATATAGTGGCCAGTGGGCG 0.517000 7 778 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62291443 62291443 + Missense_Mutation SNP G G C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr11:62291443G>C ENST00000378024.4 - 5 10720 c.10446C>G c.(10444-10446)ttC>ttG p.F3482L AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3482 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CAGACACACTGAATTTGGGCA 0.453000 10 100 0 0 1 0 0 SLC12A2 6558 broad.mit.edu 37 5 127486938 127486938 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr5:127486938C>T ENST00000262461.2 + 14 2302 c.2113C>T c.(2113-2115)Cgt>Tgt p.R705C SLC12A2_ENST00000343225.4_Missense_Mutation_p.R705C NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 705 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) GTTAGGATGGCGTCCTGCATT 0.348000 19 167 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50408873 50408873 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr20:50408873G>A ENST00000217086.4 - 2 260 c.149C>T c.(148-150)cCa>cTa p.P50L SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000395997.3_Missense_Mutation_p.P50L|SALL4_ENST00000371539.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 50 transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P50Q(1) endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GTCATTCCCTGGGTGGTTCAC 0.547000 5 406 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34327050 34327050 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr18:34327050C>T ENST00000257209.4 + 21 3781 c.3659C>T c.(3658-3660)gCa>gTa p.A1220V FHOD3_ENST00000592128.1_Missense_Mutation_p.A199V|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1395V|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1182V|FHOD3_ENST00000359247.4_Missense_Mutation_p.A1203V|FHOD3_ENST00000591635.1_Missense_Mutation_p.A416V NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1203 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) AAAGACTGTGCAGAGCGAATT 0.353000 8 701 0 0 1 0 0 FAM120B 84498 broad.mit.edu 37 6 170627847 170627847 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr6:170627847C>T ENST00000476287.1 + 2 1477 c.1369C>T c.(1369-1371)Ccc>Tcc p.P457S FAM120B_ENST00000540480.1_Missense_Mutation_p.P469S|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.P480S NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 457 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) AGGCTCTGAACCCAGGCAAGA 0.473000 5 188 0 0 1 0 0 AP1G2 8906 broad.mit.edu 37 14 24033790 24033790 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr14:24033790C>T ENST00000308724.5 - 8 1657 c.902G>A c.(901-903)cGc>cAc p.R301H AP1G2_ENST00000397120.3_Missense_Mutation_p.R301H|RP11-66N24.3_ENST00000555968.1_RNA NM_003917.2 NP_003908.1 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 subunit 301 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) AGCTGCAGAGCGGATATCCAT 0.587000 5 216 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76764091 76764091 + Missense_Mutation SNP T T A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chrX:76764091T>A ENST00000373344.5 - 35 7431 c.7217A>T c.(7216-7218)cAg>cTg p.Q2406L ATRX_ENST00000395603.3_Missense_Mutation_p.Q2368L|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2406 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AAGTATTCGCTGAACACAGCT 0.393000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 4 184 0 0 1 0 0 MT1H 4496 broad.mit.edu 37 16 56704858 56704858 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr16:56704858G>T ENST00000332374.4 + 3 214 c.143G>T c.(142-144)tGc>tTc p.C48F MT1H_ENST00000569155.1_3'UTR NM_005951.2 NP_005942.1 P80294 MT1H_HUMAN metallothionein 1H 48 Alpha. metal ion binding|protein binding lung(5) 5 GCCCAGGGCTGCATCTGCAAA 0.567000 53 97 4.10029e-35 4.8534e-35 1 1 0 RHCE 6006 broad.mit.edu 37 1 25718602 25718602 + Missense_Mutation SNP A A G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:25718602A>G ENST00000349320.3 - 6 857 c.469T>C c.(469-471)Tac>Cac p.Y157H RHCE_ENST00000349438.4_Missense_Mutation_p.Y173H|RHCE_ENST00000413854.1_Missense_Mutation_p.Y173H|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000243186.6_Missense_Mutation_p.Y173H|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000425135.1_Missense_Mutation_p.Y173H|RHCE_ENST00000294413.7_Missense_Mutation_p.Y173H|RHCE_ENST00000374352.2_Missense_Mutation_p.Y157H P18577 RHCE_HUMAN Rh blood group, CcEe antigens 173 integral to plasma membrane endometrium(8)|large_intestine(6)|lung(3) 17 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) GCGAACACGTAGAAGTGCCTC 0.537000 5 412 0 0 1 0 0 RCHY1 25898 broad.mit.edu 37 4 76407825 76407825 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr4:76407825C>T ENST00000324439.5 - 9 1107 c.709G>A c.(709-711)Ggc>Agc p.G237S RCHY1_ENST00000512706.1_Missense_Mutation_p.G215S|RCHY1_ENST00000380840.2_Missense_Mutation_p.G197S|RCHY1_ENST00000513257.1_Missense_Mutation_p.G228S|RCHY1_ENST00000451788.1_3'UTR NM_001278536.1|NM_001278538.1|NM_001278539.1 NP_001265465.1|NP_001265467.1|NP_001265468.1 Q96PM5 ZN363_HUMAN ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase 237 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nuclear speck|ubiquitin ligase complex electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|pancreas(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) CATTTCATGCCTAATATATGA 0.348000 4 214 0 0 1 0 0 KANSL2 54934 broad.mit.edu 37 12 49061476 49061476 + Splice_Site SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr12:49061476G>A ENST00000550347.1 - 6 1565 c.1522_splice c.e6+1 p.H508_splice KANSL2_ENST00000357861.3_Splice_Site_p.Q130_splice|KANSL2_ENST00000420613.2_Splice_Site_p.H325_splice|KANSL2_ENST00000553086.1_Splice_Site_p.H325_splice Q9H9L4 CL041_HUMAN KAT8 regulatory NSL complex subunit 2 325 AAAAAGATACGGGTAAGGCAG 0.448000 6 346 0 0 1 0 0 CIDEC 63924 broad.mit.edu 37 3 9911695 9911695 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:9911695C>T ENST00000336832.2 - 5 564 c.425G>A c.(424-426)cGt>cAt p.R142H CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000430427.1_Missense_Mutation_p.R152H|CIDEC_ENST00000455015.1_Missense_Mutation_p.R68H|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000423850.1_Missense_Mutation_p.R68H NM_001199552.1|NM_001199623.1|NM_022094.3 NP_001186481.1|NP_001186552.1|NP_071377.2 Q96AQ7 CIDEC_HUMAN cell death-inducing DFFA-like effector c 142 apoptosis|induction of apoptosis cytosol|focal adhesion|nucleus breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1) 8 Medulloblastoma(99;0.227) AAACGTTACACGGGCCACATC 0.488000 6 689 0 0 1 0 0 SYBU 55638 broad.mit.edu 37 8 110631148 110631148 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr8:110631148G>A ENST00000399066.3 - 2 1068 c.341C>T c.(340-342)aCg>aTg p.T114M SYBU_ENST00000440310.1_Missense_Mutation_p.T117M|SYBU_ENST00000533065.1_De_novo_Start_InFrame|SYBU_ENST00000419099.1_Missense_Mutation_p.T116M|SYBU_ENST00000533895.1_Missense_Mutation_p.T116M|SYBU_ENST00000528647.1_Missense_Mutation_p.T116M|SYBU_ENST00000276646.9_Missense_Mutation_p.T117M|SYBU_ENST00000528331.1_De_novo_Start_InFrame|SYBU_ENST00000408889.3_De_novo_Start_InFrame|SYBU_ENST00000422135.1_Missense_Mutation_p.T117M|SYBU_ENST00000446070.2_Missense_Mutation_p.T116M|SYBU_ENST00000533171.1_Missense_Mutation_p.T117M|SYBU_ENST00000424158.2_Missense_Mutation_p.T122M|SYBU_ENST00000532779.1_Missense_Mutation_p.T49M|SYBU_ENST00000408908.2_Missense_Mutation_p.T117M|SYBU_ENST00000433638.1_Missense_Mutation_p.T117M NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 117 Ser-rich.|Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 CATTCCAATCGTGCATTTCTT 0.478000 7 362 0 0 1 0 0 DAXX 1616 broad.mit.edu 37 6 33287346 33287346 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr6:33287346G>A ENST00000374542.5 - 6 1955 c.1751C>T c.(1750-1752)aCg>aTg p.T584M DAXX_ENST00000414083.2_Missense_Mutation_p.T509M|DAXX_ENST00000266000.6_Missense_Mutation_p.T584M NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 584 Interaction with MAP3K5. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 GGAAATGTCCGTCTCCACAGA 0.532000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 4 122 0 0 1 0 0 MMP19 4327 broad.mit.edu 37 12 56230903 56230903 + Missense_Mutation SNP A A T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr12:56230903A>T ENST00000394182.1 - 4 585 c.586T>A c.(586-588)Tca>Aca p.S196T MMP19_ENST00000548629.1_Missense_Mutation_p.S459T|MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000322569.4_Missense_Mutation_p.S482T Q99542 MMP19_HUMAN matrix metallopeptidase 19 482 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 TTCCCACCTGATGGGGTAGTG 0.522000 5 556 0 0 1 0 0 ARNT 405 broad.mit.edu 37 1 150804293 150804293 + Splice_Site SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:150804293C>T ENST00000358595.5 - 10 1156 c.e10+1 ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000354396.2_Splice_Site|ARNT_ENST00000505755.1_Splice_Site|ARNT_ENST00000515192.1_Splice_Site NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) CACTTTCTTACCTGCTGGGGG 0.438000 T ETV6 AML 4 36 0 0 1 0 0 MAX 4149 broad.mit.edu 37 14 65544756 65544756 + Splice_Site SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr14:65544756T>C ENST00000284165.6 - 4 320 c.e4-2 MAX_ENST00000556979.1_Splice_Site|MAX_ENST00000358402.4_Splice_Site|MAX_ENST00000557746.1_Splice_Site|MAX_ENST00000358664.4_Splice_Site|MAX_ENST00000555932.1_Intron|MAX_ENST00000341653.2_Intron|MAX_ENST00000557277.1_Splice_Site|MAX_ENST00000555667.1_Splice_Site|MAX_ENST00000555419.1_Splice_Site|MAX_ENST00000556443.1_Splice_Site NM_145113.1 NP_660088.1 P61244 MAX_HUMAN MYC associated factor X transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 17 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) CCGGGATGCCTGTGGCAATAT 0.498000 15 68 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210560726 210560726 + Missense_Mutation SNP A A G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr2:210560726A>G ENST00000360351.4 + 7 4338 c.3832A>G c.(3832-3834)Aaa>Gaa p.K1278E MAP2_ENST00000447185.1_Missense_Mutation_p.K1274E|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1278 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AAGTGAACACAAAGGAGTGAT 0.498000 21 181 0 0 1 0 0 LARP1B 55132 broad.mit.edu 37 4 129098058 129098058 + Silent SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr4:129098058G>A ENST00000326639.6 + 13 1891 c.1680G>A c.(1678-1680)aaG>aaA p.K560K LARP1B_ENST00000264584.5_Intron|LARP1B_ENST00000441387.1_Silent_p.K560K|LARP1B_ENST00000354456.3_5'UTR NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 560 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 acattcccaagaaaggtaaca 0.393000 6 102 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73414294 73414294 + Silent SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr4:73414294T>C ENST00000286657.4 - 3 441 c.405A>G c.(403-405)agA>agG p.R135R ADAMTS3_ENST00000505193.1_5'UTR NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 135 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTCTCCGGATTCTATACGTAG 0.498000 5 279 0 0 1 0 0 DTL 51514 broad.mit.edu 37 1 212273684 212273684 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:212273684C>T ENST00000366991.4 + 14 1666 c.1352C>T c.(1351-1353)gCc>gTc p.A451V DTL_ENST00000542077.1_Missense_Mutation_p.A409V|DTL_ENST00000475419.1_3'UTR NM_016448.2 NP_057532.2 Q9NZJ0 DTL_HUMAN denticleless E3 ubiquitin protein ligase homolog (Drosophila) 451 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) GCAGCTTGTGCCCCAAGCTGT 0.522000 6 301 0 0 1 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155931573 155931573 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:155931573C>T ENST00000368316.1 - 15 1733 c.1263G>A c.(1261-1263)atG>atA p.M421I ARHGEF2_ENST00000368315.3_Missense_Mutation_p.M450I|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.M449I|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.M448I|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.M421I Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 449 DH. actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CCCGAGGGTCCATGCGGTTGT 0.597000 25 59 0 0 1 0 0 ZNF24 7572 broad.mit.edu 37 18 32917436 32917436 + Silent SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr18:32917436G>A ENST00000261332.6 - 4 1046 c.867C>T c.(865-867)agC>agT p.S289S ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Silent_p.S289S NM_006965.2 NP_008896.2 P17028 ZNF24_HUMAN zinc finger protein 24 289 myelination|negative regulation of transcription, DNA-dependent|viral reproduction nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 15 TGGAACTTCGGCTGAATGCTT 0.453000 4 308 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125082753 125082753 + Missense_Mutation SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr8:125082753T>C ENST00000522917.1 + 30 4086 c.3880T>C c.(3880-3882)Tgg>Cgg p.W1294R FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.W1294R NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1294 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TTTTGAAGACTGGGTGAAAAC 0.418000 7 201 0 0 1 0 0 MAPRE3 22924 broad.mit.edu 37 2 27245090 27245090 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr2:27245090G>A ENST00000233121.2 + 2 202 c.4G>A c.(4-6)Gcc>Acc p.A2T MAPRE3_ENST00000402218.1_Missense_Mutation_p.A2T|MAPRE3_ENST00000491354.1_3'UTR|MAPRE3_ENST00000405074.3_Missense_Mutation_p.A2T Q9UPY8 MARE3_HUMAN microtubule-associated protein, RP/EB family, member 3 2 A -> P (in Ref. 7; CAA72060). cell division|mitosis|positive regulation of transcription, DNA-dependent cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm microtubule binding|protein binding|small GTPase regulator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGGGGTATGGCCGTCAATGT 0.507000 18 609 0 0 1 0 0 ANKRD28 23243 broad.mit.edu 37 3 15726732 15726732 + Splice_Site SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:15726732C>A ENST00000399451.2 - 21 2667 c.e21+1 ANKRD28_ENST00000383777.1_Splice_Site|ANKRD28_ENST00000497037.1_Splice_Site NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 GTATACTTAACCATTGTAGCA 0.373000 31 170 2.81731e-10 3.1832e-10 1 1 0 PLSCR4 57088 broad.mit.edu 37 3 145918825 145918825 + Nonsense_Mutation SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:145918825C>A ENST00000354952.2 - 5 634 c.394G>T c.(394-396)Gaa>Taa p.E132* PLSCR4_ENST00000446574.2_Nonsense_Mutation_p.E132*|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000493382.1_Nonsense_Mutation_p.E132*|PLSCR4_ENST00000383083.2_Intron NM_020353.2 NP_065086.2 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 132 blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1) 17 TACATACTTTCCAGAGGCTCA 0.318000 4 111 0.00116845 0.00123969 1 1 0 PKP2 5318 broad.mit.edu 37 12 32996139 32996139 + Missense_Mutation SNP A A T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr12:32996139A>T ENST00000070846.6 - 6 1511 c.1487T>A c.(1486-1488)gTt>gAt p.V496D PKP2_ENST00000340811.4_Intron NM_004572.3 NP_004563.2 Q99959 PKP2_HUMAN plakophilin 2 496 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) ctggtctcgaactcctgacct 0.557000 4 251 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43783270 43783270 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:43783270G>A ENST00000372476.3 + 16 2735 c.2656G>A c.(2656-2658)Gga>Aga p.G886R TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.G531R NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 886 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGACTTTGCGGGAGAACTGGA 0.502000 3 192 0 0 1 0 0 RPL12P38 645688 broad.mit.edu 37 17 58511256 58511256 + RNA SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr17:58511256C>A ENST00000588627.1 - 0 2101 GCAAGGTTGACGATCTCATCA 0.473000 3 60 1 1 1 1 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 4 215 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92533197 92533197 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr11:92533197G>T ENST00000298047.6 + 9 7035 c.7018G>T c.(7018-7020)Gat>Tat p.D2340Y FAT3_ENST00000525166.1_Missense_Mutation_p.D2190Y|FAT3_ENST00000409404.2_Missense_Mutation_p.D2340Y Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2340 Cadherin 21. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTTTCACATAGATAGCTCAAG 0.383000 TCGA Ovarian(4;0.039) 8 110 2.17888e-05 2.41481e-05 1 1 0 ITGA5 3678 broad.mit.edu 37 12 54797447 54797447 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr12:54797447C>T ENST00000293379.4 - 17 1999 c.1738G>A c.(1738-1740)Gct>Act p.A580T RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 580 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 TCCTCTCGAGCCCCATTCTGG 0.627000 9 90 0 0 1 0 0 RNF113B 140432 broad.mit.edu 37 13 98828727 98828727 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr13:98828727C>T ENST00000267291.6 - 1 792 c.764G>A c.(763-765)aGg>aAg p.R255K FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron NM_178861.4 NP_849192.1 Q8IZP6 R113B_HUMAN ring finger protein 113B 255 nucleic acid binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) TATGAAACACCTGAATGGTAT 0.557000 3 111 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74627331 74627331 + Nonsense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr15:74627331C>T ENST00000321288.5 + 21 2752 c.2752C>T c.(2752-2754)Cga>Tga p.R918* CCDC33_ENST00000558821.1_Nonsense_Mutation_p.R274*|CCDC33_ENST00000398814.3_Nonsense_Mutation_p.R681*|CCDC33_ENST00000268082.4_Nonsense_Mutation_p.R308* Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 884 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GGACTCAGCTCGACGCTGGGG 0.577000 5 209 0 0 1 0 0 CD1A 909 broad.mit.edu 37 1 158226831 158226831 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:158226831G>A ENST00000289429.5 + 4 1393 c.860G>A c.(859-861)gGc>gAc p.G287D NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 287 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex p.G287V(1) 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) AGTCTAGAGGGCCAGGACATC 0.592000 7 155 0 0 1 0 0 OR5K4 403278 broad.mit.edu 37 3 98072960 98072960 + Missense_Mutation SNP A A G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:98072960A>G ENST00000354924.2 + 1 263 c.263A>G c.(262-264)gAg>gGg p.E88G RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 TTCTTTTCTGAGGATAGAATT 0.428000 8 1371 0 0 1 0 0 GADL1 339896 broad.mit.edu 37 3 30875766 30875766 + Nonsense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:30875766C>T ENST00000454381.3 - 10 957 c.911G>A c.(910-912)tGg>tAg p.W304* GADL1_ENST00000282538.5_Nonsense_Mutation_p.W304* Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 304 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) TGAGCCACCCCAAGAAGCCTG 0.443000 15 160 0 0 1 0 0 TFRC 7037 broad.mit.edu 37 3 195778819 195778819 + Missense_Mutation SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:195778819C>A ENST00000360110.4 - 19 2446 c.2277G>T c.(2275-2277)gaG>gaT p.E759D TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.E477D|TFRC_ENST00000420415.1_Missense_Mutation_p.E678D|TFRC_ENST00000392396.3_Missense_Mutation_p.E759D NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 759 Ligand-binding. cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) ACATTTAAAACTCATTGTCAA 0.438000 T BCL6 NHL 26 82 1.2476e-16 1.45693e-16 1 1 0 BMX 660 broad.mit.edu 37 X 15540535 15540535 + Nonsense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chrX:15540535C>T ENST00000357607.2 + 7 765 c.577C>T c.(577-579)Caa>Taa p.Q193* BMX_ENST00000342014.6_Nonsense_Mutation_p.Q193*|BMX_ENST00000348343.6_Nonsense_Mutation_p.Q193* P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 193 cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity p.Q193K(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) CACTCTAGCCCAATATGACAA 0.428000 11 275 0 0 1 0 0 PELI1 57162 broad.mit.edu 37 2 64323337 64323337 + Silent SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr2:64323337T>C ENST00000358912.4 - 6 1054 c.612A>G c.(610-612)ggA>ggG p.G204G NM_020651.3 NP_065702.2 Q96FA3 PELI1_HUMAN pellino E3 ubiquitin protein ligase 1 204 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 19 CTCTCCATATTCCAGGCTTGG 0.438000 78 72 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124380756 124380756 + Missense_Mutation SNP G G A rs111726992 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr10:124380756G>A ENST00000338354.3 + 41 5187 c.5081G>A c.(5080-5082)cGg>cAg p.R1694Q DMBT1_ENST00000330163.4_Missense_Mutation_p.R1066Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1684Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1066Q|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1694Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1684Q Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1694 SRCR 13. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGAAATGCCCGGTTTGGCCAG 0.617000 7 340 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38568017 38568017 + Silent SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr21:38568017C>T ENST00000399017.2 + 42 8006 c.5259C>T c.(5257-5259)ggC>ggT p.G1753G TTC3_ENST00000354749.2_Silent_p.G1753G|TTC3_ENST00000355666.1_Silent_p.G1753G|TTC3_ENST00000479930.1_3'UTR NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1753 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) GCGACGATGGCCAAGGGCTTG 0.557000 4 456 0 0 1 0 0 U2SURP 23350 broad.mit.edu 37 3 142772557 142772557 + Missense_Mutation SNP A A C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:142772557A>C ENST00000397933.2 + 25 2750 c.1468A>C c.(1468-1470)Aag>Cag p.K490Q U2SURP_ENST00000493598.2_Missense_Mutation_p.K898Q|U2SURP_ENST00000473835.2_Missense_Mutation_p.K899Q O15042 SR140_HUMAN U2 snRNP-associated SURP domain containing 899 RNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 agaaagagacaagaaagataa 0.303000 3 100 0 0 1 0 0 FCRLB 127943 broad.mit.edu 37 1 161693219 161693219 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:161693219C>T ENST00000367948.2 + 5 330 c.115C>T c.(115-117)Cgg>Tgg p.R39W FCRLB_ENST00000367944.3_Missense_Mutation_p.R32W|FCRLB_ENST00000392158.1_Missense_Mutation_p.R39W|FCRLB_ENST00000367946.3_Missense_Mutation_p.R39W|FCRLB_ENST00000367945.1_Missense_Mutation_p.R32W|FCRLB_ENST00000336830.5_Missense_Mutation_p.R39W Q6BAA4 FCRLB_HUMAN Fc receptor-like B 39 Ig-like C2-type 1. endoplasmic reticulum central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1) 17 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) CAAAGGGGAGCGGGTAACTTT 0.557000 4 229 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39265811 39265811 + Silent SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr13:39265811C>T ENST00000280481.7 + 1 4546 c.4330C>T c.(4330-4332)Cta>Tta p.L1444L NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1444 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AACAGACCTACTAAGCACTAG 0.473000 5 83 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 5 282 0 0 1 0 0 LMNB1 4001 broad.mit.edu 37 5 126156699 126156699 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr5:126156699G>A ENST00000261366.5 + 7 1619 c.1258G>A c.(1258-1260)Gat>Aat p.D420N LMNB1_ENST00000460265.1_3'UTR NM_001198557.1|NM_005573.3 NP_001185486.1|NP_005564.1 P20700 LMNB1_HUMAN lamin B1 420 Tail. cellular component disassembly involved in apoptosis lamin filament|nuclear inner membrane protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.103)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903) GAAGAGGGTTGATGTGGAAGA 0.473000 16 70 0 0 1 0 0 ZFYVE27 118813 broad.mit.edu 37 10 99498404 99498404 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr10:99498404C>T ENST00000393677.4 + 2 374 c.170C>T c.(169-171)gCa>gTa p.A57V ZFYVE27_ENST00000453958.2_Missense_Mutation_p.A57V|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.A57V|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.A57V|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.A57V|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.A57V|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.A57V|ZFYVE27_ENST00000370610.3_Intron NM_144588.6 NP_653189.3 Q5T4F4 ZFY27_HUMAN zinc finger, FYVE domain containing 27 57 Necessary for interaction with RAB11A and function in neurite outgrowth. cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane metal ion binding|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 8 Colorectal(252;0.0846) Epithelial(162;7.08e-10)|all cancers(201;5.18e-08) TTGAAGGATGCAGGTGATGGT 0.507000 6 372 0 0 1 0 0 VWA2 340706 broad.mit.edu 37 10 116042303 116042303 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr10:116042303G>T ENST00000603594.1 + 9 1183 c.862G>T c.(862-864)Gcc>Tcc p.A288S VWA2_ENST00000392982.3_Missense_Mutation_p.A288S NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 288 extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) AACCCACCCTGCCACCTGCTA 0.493000 5 107 0.00307968 0.0032281 1 1 0 MACF1 23499 broad.mit.edu 37 1 39916725 39916725 + Splice_Site SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:39916725C>T ENST00000564288.1 + 85 21037 c.20258_splice c.e85-1 p.Q6754_splice MACF1_ENST00000539005.1_Splice_Site_p.Q4565_splice|MACF1_ENST00000289893.4_Splice_Site_p.Q5197_splice|MACF1_ENST00000545844.1_Splice_Site_p.Q4695_splice|MACF1_ENST00000567887.1_Splice_Site_p.Q6791_splice|MACF1_ENST00000372915.3_Splice_Site_p.Q6653_splice|MACF1_ENST00000317713.7_Splice_Site_p.Q4695_splice|MACF1_ENST00000361689.2_Splice_Site_p.Q4695_splice Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6761 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ATTTCTCAGGCAGCACAAGTT 0.473000 4 207 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39889745 39889745 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:39889745C>T ENST00000564288.1 + 61 16972 c.16195C>T c.(16195-16197)Ctt>Ttt p.L5399F MACF1_ENST00000539005.1_Missense_Mutation_p.L3316F|MACF1_ENST00000289893.4_Missense_Mutation_p.L3839F|MACF1_ENST00000545844.1_Missense_Mutation_p.L3337F|MACF1_ENST00000567887.1_Missense_Mutation_p.L5436F|MACF1_ENST00000372915.3_Missense_Mutation_p.L5404F|MACF1_ENST00000317713.7_Missense_Mutation_p.L3337F|MACF1_ENST00000361689.2_Missense_Mutation_p.L3337F Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5404 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGTAGACATGCTTCAAGCAGA 0.443000 6 227 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 3 22 0 0 1 0 0 PPEF2 5470 broad.mit.edu 37 4 76817422 76817422 + Splice_Site SNP A A G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr4:76817422A>G ENST00000286719.7 - 2 412 c.e2+1 PPEF2_ENST00000510607.1_Splice_Site NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GGAAACACGTACCTCTCTCTG 0.507000 OREG0016229 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 356 0 0 1 0 0 FAM160A2 84067 broad.mit.edu 37 11 6245420 6245420 + Missense_Mutation SNP A A T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr11:6245420A>T ENST00000265978.4 - 3 555 c.197T>A c.(196-198)cTc>cAc p.L66H FAM160A2_ENST00000449352.2_Missense_Mutation_p.L66H|FAM160A2_ENST00000524416.1_Missense_Mutation_p.L66H NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 66 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CACAGCACTGAGATCGTCTGC 0.587000 4 302 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160885464 160885464 + Silent SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr2:160885464G>A ENST00000283243.7 - 5 1058 c.852C>T c.(850-852)agC>agT p.S284S PLA2R1_ENST00000392771.1_Silent_p.S284S NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 284 C-type lectin 1. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CTGTTTTACTGCTCATGTGCT 0.453000 3 33 0 0 1 0 0 RAB43 339122 broad.mit.edu 37 3 128840237 128840237 + Silent SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:128840237C>A ENST00000315150.5 - 1 396 c.96G>T c.(94-96)acG>acT p.T32T RAB43_ENST00000393307.1_Silent_p.T32T|RAB43_ENST00000393308.1_Silent_p.T32T|RAB43_ENST00000476465.1_Silent_p.T32T|ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393305.1_Silent_p.T32T|RAB43_ENST00000393304.1_Silent_p.T32T NM_001204888.1|NM_198490.2 NP_001191817.1|NP_940892.1 Q86YS6 RAB43_HUMAN RAB43, member RAS oncogene family 32 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding kidney(2)|liver(1)|lung(2)|skin(1) 6 GCACCACGCACGTCTTGCCCA 0.667000 3 10 0.014758 0.0152851 1 1 0 ARHGAP9 64333 broad.mit.edu 37 12 57866395 57866395 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr12:57866395G>A ENST00000393797.2 - 21 2563 c.2371C>T c.(2371-2373)Cca>Tca p.P791S ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000424809.2_3'UTR|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.P720S|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P701S|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.P517S Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 720 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) TCCTGCTCTGGCCGAAACAGG 0.557000 4 120 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129189922 129189922 + Silent SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chrX:129189922C>T ENST00000540052.1 + 12 4991 c.4947C>T c.(4945-4947)acC>acT p.T1649T BCORL1_ENST00000303743.5_Silent_p.T1723T|BCORL1_ENST00000218147.7_Silent_p.T1649T|BCORL1_ENST00000359304.2_Silent_p.T1519T NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1649 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 TTGAAATCACCACCATGCCCA 0.592000 4 295 0 0 1 0 0 MNDA 4332 broad.mit.edu 37 1 158815659 158815659 + Missense_Mutation SNP T T C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:158815659T>C ENST00000368141.4 + 5 1114 c.853T>C c.(853-855)Tct>Cct p.S285P NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 285 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) GGAAGCATCATCTGTGTCTGA 0.348000 3 100 0 0 1 0 0 TMX4 56255 broad.mit.edu 37 20 7982163 7982163 + Silent SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr20:7982163G>T ENST00000246024.2 - 3 533 c.318C>A c.(316-318)acC>acA p.T106T TMX4_ENST00000530935.1_5'UTR NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 106 Thioredoxin. cell redox homeostasis|electron transport chain|transport integral to membrane endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 CTGGGAGAGTGGTGACAAAGA 0.343000 4 12 0.00116845 0.00123969 1 1 0 PUS7L 83448 broad.mit.edu 37 12 44148483 44148483 + Missense_Mutation SNP A A G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr12:44148483A>G ENST00000416848.2 - 2 1054 c.566T>C c.(565-567)gTa>gCa p.V189A PUS7L_ENST00000344862.5_Missense_Mutation_p.V189A|PUS7L_ENST00000553166.1_Missense_Mutation_p.V189A|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000551923.1_Missense_Mutation_p.V189A NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 189 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) GTTTTTTCCTACAGTTACTAA 0.338000 3 253 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135286243 135286243 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr7:135286243G>T ENST00000285968.6 + 17 2526 c.2500G>T c.(2500-2502)Gcc>Tcc p.A834S NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 834 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TGACACCTATGCCCCCTTTCC 0.398000 17 323 5.03518e-11 5.76396e-11 1 1 0 CYP46A1 10858 broad.mit.edu 37 14 100165849 100165849 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr14:100165849G>A ENST00000261835.3 + 4 433 c.329G>A c.(328-330)cGt>cAt p.R110H CYP46A1_ENST00000423126.2_Missense_Mutation_p.R13H NM_006668.1 NP_006659.1 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46, subfamily A, polypeptide 1 110 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1) 25 Melanoma(154;0.0866)|all_epithelial(191;0.179) AAGATGTACCGTGCGCTCCAG 0.537000 8 687 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57970616 57970616 + Silent SNP C C T rs146703120 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr12:57970616C>T ENST00000455537.2 + 20 2545 c.2271C>T c.(2269-2271)caC>caT p.H757H KIF5A_ENST00000286452.5_Silent_p.H668H NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 757 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 GCGAAGAACACGAGAAGAGCA 0.488000 13 264 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2817632 2817632 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr16:2817632G>A ENST00000301740.8 + 11 7652 c.7103G>A c.(7102-7104)aGt>aAt p.S2368N SRRM2_ENST00000574593.1_3'UTR NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2368 Ala-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 AGCCTCACCAGTGCTAGGATG 0.627000 4 94 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152278999 152278999 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:152278999C>T ENST00000368799.1 - 3 8398 c.8363G>A c.(8362-8364)gGa>gAa p.G2788E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2788 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCCGGGTGTCCACGAATGGT 0.602000 Ichthyosis 7 221 0 0 1 0 0 PTTG1 9232 broad.mit.edu 37 5 159851297 159851297 + Silent SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr5:159851297C>T ENST00000393964.1 + 3 733 c.330C>T c.(328-330)gcC>gcT p.A110A PTTG1_ENST00000352433.5_Silent_p.A110A|PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000520452.1_Silent_p.A110A O95997 PTTG1_HUMAN pituitary tumor-transforming 1 110 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter cytosol|nucleus cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding breast(1)|large_intestine(1)|lung(4) 6 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104) CAGATGATGCCTATCCAGAAA 0.383000 12 596 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35547638 35547638 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr9:35547638C>T ENST00000455600.1 + 2 1689 c.1120C>T c.(1120-1122)Cca>Tca p.P374S NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 374 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) TGAGCCGTGCCCAGCAGTGGC 0.547000 4 108 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43837052 43837052 + Missense_Mutation SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr20:43837052C>A ENST00000372781.3 + 2 1171 c.1114C>A c.(1114-1116)Cgc>Agc p.R372S SEMG1_ENST00000244069.6_Missense_Mutation_p.R312S NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) TGTATCCCAACGCAGTATTTA 0.418000 5 194 0.00116845 0.00123969 1 1 0 SNX25 83891 broad.mit.edu 37 4 186263224 186263224 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr4:186263224C>T ENST00000504273.1 + 12 1943 c.1649C>T c.(1648-1650)cCc>cTc p.P550L SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.P550L Q9H3E2 SNX25_HUMAN sorting nexin 25 550 PX. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) TGGACGGTCCCCAGAAGGCTC 0.438000 35 247 0 0 1 0 0 CLASP1 23332 broad.mit.edu 37 2 122161947 122161947 + Splice_Site SNP C C A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr2:122161947C>A ENST00000263710.4 - 26 3122 c.2733_splice c.e26+1 p.K911_splice CLASP1_ENST00000455322.2_Splice_Site_p.K883_splice|CLASP1_ENST00000541377.1_Splice_Site_p.K889_splice|CLASP1_ENST00000409078.3_Splice_Site_p.K883_splice|CLASP1_ENST00000541859.1_Splice_Site_p.K644_splice|CLASP1_ENST00000397587.3_Splice_Site_p.K891_splice|CLASP1_ENST00000545861.1_Splice_Site_p.K658_splice NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 911 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) TCAGACTTACCTTGCTATGAG 0.428000 3 44 1 1 1 1 0 EDC4 23644 broad.mit.edu 37 16 67914536 67914536 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr16:67914536G>A ENST00000358933.5 + 18 2413 c.2174G>A c.(2173-2175)aGc>aAc p.S725N NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 725 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) GCCTCCCCTAGCCGCACTCGT 0.632000 4 171 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194157925 194157925 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:194157925G>T ENST00000439040.1 - 20 2810 c.2019C>A c.(2017-2019)aaC>aaA p.N673K ATP13A3_ENST00000256031.4_Missense_Mutation_p.N673K Q9H7F0 AT133_HUMAN ATPase type 13A3 673 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CTTCCAAAACGTTTTGAAAAT 0.348000 10 213 1.76689e-08 1.97077e-08 1 1 0 SLC44A4 80736 broad.mit.edu 37 6 31842504 31842504 + Nonsense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr6:31842504C>T ENST00000544672.1 - 6 530 c.234G>A c.(232-234)tgG>tgA p.W78* SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000229729.6_Nonsense_Mutation_p.W154*|SLC44A4_ENST00000375562.4_Intron NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 154 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) TCACCATATTCCAGGGTACCC 0.532000 29 69 0 0 1 0 0 OR2AK2 391191 broad.mit.edu 37 1 248128995 248128995 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:248128995C>T ENST00000366480.3 + 1 461 c.362C>T c.(361-363)gCc>gTc p.A121V OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GTGTTCTTGGCCCTTGGTGGA 0.443000 5 451 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63030431 63030431 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr15:63030431C>T ENST00000561311.1 + 29 3816 c.3586C>T c.(3586-3588)Cac>Tac p.H1196Y TLN2_ENST00000306829.6_Missense_Mutation_p.H1196Y|TLN2_ENST00000559908.1_3'UTR Q9Y4G6 TLN2_HUMAN talin 2 1196 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 AGCCGTCTCACACTCCTTGAA 0.493000 6 542 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35969399 35969399 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chrX:35969399G>A ENST00000297866.5 + 5 874 c.808G>A c.(808-810)Gca>Aca p.A270T NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 270 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 AATTAAACATGCACGTGTATA 0.418000 39 67 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2963985 2963985 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr7:2963985G>A ENST00000396946.4 - 15 2225 c.1822C>T c.(1822-1824)Cgc>Tgc p.R608C NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 608 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) AAGGAGTAGCGTTCGTGACTG 0.642000 Mis DLBCL 3 122 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137756470 137756470 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr5:137756470C>T ENST00000314358.5 + 15 3991 c.3791C>T c.(3790-3792)gCa>gTa p.A1264V KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000394866.1_Missense_Mutation_p.A920V|KDM3B_ENST00000542866.1_Missense_Mutation_p.A296V NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1264 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 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 AACTCCACTGCAAAGGTCTCT 0.512000 5 431 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78225248 78225248 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr12:78225248G>A ENST00000397909.2 + 1 180 c.7G>A c.(7-9)Gtt>Att p.V3I NAV3_ENST00000266692.7_Missense_Mutation_p.V3I|NAV3_ENST00000228327.6_Missense_Mutation_p.V3I|NAV3_ENST00000536525.2_Missense_Mutation_p.V3I Q8IVL0 NAV3_HUMAN neuron navigator 3 3 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 AGCCATGCCTGTTCTTGGGGT 0.443000 HNSCC(70;0.22) 7 675 0 0 1 0 0 TRIM37 4591 broad.mit.edu 37 17 57125063 57125063 + Missense_Mutation SNP C C A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr17:57125063C>A ENST00000376149.3 - 16 2091 c.1282G>T c.(1282-1284)Gat>Tat p.D428Y TRIM37_ENST00000393066.3_Missense_Mutation_p.D550Y|TRIM37_ENST00000393065.2_Missense_Mutation_p.D516Y|TRIM37_ENST00000262294.7_Missense_Mutation_p.D550Y O94972 TRI37_HUMAN tripartite motif containing 37 550 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TCATCAATATCATTTTCTTCT 0.353000 Mulibrey Nanism 5 60 0.00116845 0.00132882 0.021553 1 0 TNFAIP2 7127 broad.mit.edu 37 14 103598002 103598002 + Missense_Mutation SNP T T G TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr14:103598002T>G ENST00000560869.1 + 8 1964 c.1325T>G c.(1324-1326)gTa>gGa p.V442G TNFAIP2_ENST00000451723.2_Missense_Mutation_p.V111G|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.V442G Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 442 angiogenesis|cell differentiation extracellular space p.V442G(1) NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 11 Melanoma(154;0.155) Epithelial(46;0.191) AATTGGCAGGTACCCCAGGAC 0.622000 6 19 0 0 0.033300 0 0 ARAP2 116984 broad.mit.edu 37 4 36069579 36069579 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr4:36069579G>A ENST00000303965.4 - 33 5554 c.5065C>T c.(5065-5067)Cgg>Tgg p.R1689W NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1689 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 GTTCTTGACCGTTGTAGAACC 0.358000 15 285 0 0 0.033300 0 0 DEPDC7 91614 broad.mit.edu 37 11 33050304 33050304 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr11:33050304G>T ENST00000311388.3 + 4 1097 c.721G>T c.(721-723)Gat>Tat p.D241Y DEPDC7_ENST00000241051.3_Missense_Mutation_p.D250Y NM_139160.2 NP_631899.2 Q96QD5 DEPD7_HUMAN DEP domain containing 7 250 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 TAACTATCTGGATCGAGGGAT 0.403000 26 174 1.17739e-12 1.48454e-12 0.108266 1 0 PELI1 57162 broad.mit.edu 37 2 64323337 64323337 + Silent SNP T T C TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr2:64323337T>C ENST00000358912.4 - 6 1054 c.612A>G c.(610-612)ggA>ggG p.G204G NM_020651.3 NP_065702.2 Q96FA3 PELI1_HUMAN pellino E3 ubiquitin protein ligase 1 204 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 19 CTCTCCATATTCCAGGCTTGG 0.438000 117 80 0 0 0.048971 0 0 NUP210L 91181 broad.mit.edu 37 1 154067513 154067513 + Silent SNP C C T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:154067513C>T ENST00000368559.3 - 15 2156 c.2085G>A c.(2083-2085)gcG>gcA p.A695A NUP210L_ENST00000271854.3_Silent_p.A695A NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 695 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) CTGTCTTCTCCGCATTCAATT 0.473000 8 65 0 0 0.038147 0 0 TECTA 7007 broad.mit.edu 37 11 120984322 120984322 + Missense_Mutation SNP G G A rs150098939 byFrequency TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr11:120984322G>A ENST00000392793.1 + 6 956 c.685G>A c.(685-687)Gag>Aag p.E229K TECTA_ENST00000264037.2_Missense_Mutation_p.E229K O75443 TECTA_HUMAN tectorin alpha 229 NIDO. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AAGAACCCCCGAGATCGTGAA 0.478000 5 149 0 0 0.014758 0 0 ARNT 405 broad.mit.edu 37 1 150804293 150804293 + Splice_Site SNP C C T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:150804293C>T ENST00000358595.5 - 10 1156 c.e10+1 ARNT_ENST00000515192.1_Splice_Site|ARNT_ENST00000505755.1_Splice_Site|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000354396.2_Splice_Site NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) CACTTTCTTACCTGCTGGGGG 0.438000 T ETV6 AML 5 63 0 0 0.014758 0 0 MAX 4149 broad.mit.edu 37 14 65544756 65544756 + Splice_Site SNP T T C TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr14:65544756T>C ENST00000284165.6 - 4 320 c.e4-2 MAX_ENST00000358402.4_Splice_Site|MAX_ENST00000358664.4_Splice_Site|MAX_ENST00000555419.1_Splice_Site|MAX_ENST00000555667.1_Splice_Site|MAX_ENST00000557277.1_Splice_Site|MAX_ENST00000555932.1_Intron|MAX_ENST00000557746.1_Splice_Site|MAX_ENST00000341653.2_Intron|MAX_ENST00000556443.1_Splice_Site|MAX_ENST00000556979.1_Splice_Site NM_145113.1 NP_660088.1 P61244 MAX_HUMAN MYC associated factor X transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 17 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) CCGGGATGCCTGTGGCAATAT 0.498000 22 96 0 0 0.055883 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 5 54 0.000602214 0.000698569 0.014758 1 0 NID1 4811 broad.mit.edu 37 1 236212062 236212062 + Silent SNP G G A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:236212062G>A ENST00000264187.6 - 2 535 c.453C>T c.(451-453)agC>agT p.S151S NID1_ENST00000366595.3_Silent_p.S151S NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 151 NIDO. cell-matrix adhesion basement membrane calcium ion binding p.S151S(1) breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CAACCACCGCGCTACTAGGCT 0.577000 9 66 0 0 0.047766 0 0 RAB43 339122 broad.mit.edu 37 3 128840237 128840237 + Silent SNP C C A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:128840237C>A ENST00000315150.5 - 1 396 c.96G>T c.(94-96)acG>acT p.T32T RAB43_ENST00000476465.1_Silent_p.T32T|RAB43_ENST00000393308.1_Silent_p.T32T|RAB43_ENST00000393307.1_Silent_p.T32T|ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393305.1_Silent_p.T32T|RAB43_ENST00000393304.1_Silent_p.T32T NM_001204888.1|NM_198490.2 NP_001191817.1|NP_940892.1 Q86YS6 RAB43_HUMAN RAB43, member RAS oncogene family 32 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding kidney(2)|liver(1)|lung(2)|skin(1) 6 GCACCACGCACGTCTTGCCCA 0.667000 9 19 0.00621372 0.00693068 0.058154 1 0 ITGA5 3678 broad.mit.edu 37 12 54797447 54797447 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr12:54797447C>T ENST00000293379.4 - 17 1999 c.1738G>A c.(1738-1740)Gct>Act p.A580T RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 580 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 TCCTCTCGAGCCCCATTCTGG 0.627000 27 203 0 0 0.099896 0 0 ATP9A 10079 broad.mit.edu 37 20 50226667 50226667 + Missense_Mutation SNP G G C TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr20:50226667G>C ENST00000338821.5 - 24 2873 c.2609C>G c.(2608-2610)cCt>cGt p.P870R ATP9A_ENST00000311637.5_Missense_Mutation_p.P734R|ATP9A_ENST00000402822.1_Missense_Mutation_p.P749R NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 870 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 TTGATAGAGAGGGACGGAGGC 0.423000 9 88 0 0 0.047766 0 0 ANKRD28 23243 broad.mit.edu 37 3 15726732 15726732 + Splice_Site SNP C C A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:15726732C>A ENST00000399451.2 - 21 2667 c.e21+1 ANKRD28_ENST00000383777.1_Splice_Site|ANKRD28_ENST00000497037.1_Splice_Site NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 GTATACTTAACCATTGTAGCA 0.373000 40 273 2.40579e-17 3.1008e-17 0.086207 1 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 5 85 0 0 0.021553 0 0 FREM2 341640 broad.mit.edu 37 13 39265811 39265811 + Silent SNP C C T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr13:39265811C>T ENST00000280481.7 + 1 4546 c.4330C>T c.(4330-4332)Cta>Tta p.L1444L NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1444 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AACAGACCTACTAAGCACTAG 0.473000 20 177 0 0 0.069288 0 0 QPCT 25797 broad.mit.edu 37 2 37586796 37586796 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr2:37586796C>T ENST00000338415.3 + 3 499 c.341C>T c.(340-342)cCc>cTc p.P114L QPCT_ENST00000537448.1_Missense_Mutation_p.P65L NM_012413.3 NP_036545.1 Q16769 QPCT_HUMAN glutaminyl-peptide cyclotransferase 114 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis extracellular region acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2) 17 Ovarian(717;0.051)|all_hematologic(82;0.21) AGTCAGACACCCTATGGGTAC 0.443000 48 29 0 0 0.048971 0 0 MNDA 4332 broad.mit.edu 37 1 158815659 158815659 + Missense_Mutation SNP T T C TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:158815659T>C ENST00000368141.4 + 5 1114 c.853T>C c.(853-855)Tct>Cct p.S285P NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 285 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) GGAAGCATCATCTGTGTCTGA 0.348000 5 129 0 0 0.021553 0 0 SLC12A2 6558 broad.mit.edu 37 5 127486938 127486938 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr5:127486938C>T ENST00000262461.2 + 14 2302 c.2113C>T c.(2113-2115)Cgt>Tgt p.R705C SLC12A2_ENST00000343225.4_Missense_Mutation_p.R705C NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 705 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) GTTAGGATGGCGTCCTGCATT 0.348000 33 259 0 0 0.074837 0 0 DSCAML1 57453 broad.mit.edu 37 11 117392010 117392010 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr11:117392010G>A ENST00000321322.6 - 6 1229 c.1228C>T c.(1228-1230)Cgc>Tgc p.R410C DSCAML1_ENST00000527706.1_Missense_Mutation_p.R140C NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 350 Ig-like C2-type 5. 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) TCCGTGTTGCGATACCAGCGG 0.627000 82 136 0 0 0.048971 0 0 MYO16 23026 broad.mit.edu 37 13 109379873 109379873 + Missense_Mutation SNP C C T rs150729745 by1000genomes TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr13:109379873C>T ENST00000356711.2 + 4 509 c.383C>T c.(382-384)aCg>aTg p.T128M MYO16_ENST00000357550.2_Missense_Mutation_p.T128M|MYO16_ENST00000251041.5_Missense_Mutation_p.T128M NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 128 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity p.T128M(1) NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GACTTCTGGACGCCCATGCAC 0.418000 25 125 0 0 0.076483 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69046326 69046326 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr2:69046326G>A ENST00000295381.3 + 9 1491 c.1072G>A c.(1072-1074)Gat>Aat p.D358N ARHGAP25_ENST00000479844.1_Missense_Mutation_p.D52N|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.D352N|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.D319N|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.D352N|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.D351N|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.D359N NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 358 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 CAAGTCCAAGGATATACCCCT 0.498000 8 285 0 0 0.047766 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162340 90162340 + RNA SNP C C T rs138169571 by1000genomes TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr16:90162340C>T ENST00000564451.1 + 0 1693 TUBB8P7_ENST00000567960.1_RNA p.R358W(1) CATCCCACTCCGGGGGCTAAA 0.478000 7 283 0 0 0.069234 0 0 MT-CO3 4514 broad.mit.edu 37 MT 9384 9384 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chrM:9384G>A ENST00000362079.2 + 1 178 c.178G>A c.(178-180)Gat>Aat p.60_60insN mitochondrially encoded cytochrome c oxidase III breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1) 27 AATGGTGGCGCGATGTAACAC 0.458000 5 148 0 0 0.021553 0 0 MYH2 4620 broad.mit.edu 37 17 10435042 10435042 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr17:10435042G>A ENST00000245503.5 - 22 2989 c.2605C>T c.(2605-2607)Ctt>Ttt p.L869F MYH2_ENST00000397183.2_Missense_Mutation_p.L869F|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 869 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GACTTGGCAAGTTCGTCTTTA 0.423000 9 184 0 0 0.058154 0 0 ALG13 79868 broad.mit.edu 37 X 111002972 111002972 + Silent SNP G G A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chrX:111002972G>A ENST00000394780.3 + 27 3171 c.3159G>A c.(3157-3159)ccG>ccA p.P1053P ALG13_ENST00000251943.4_Silent_p.P870P|ALG13_ENST00000470971.1_3'UTR NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 1053 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 ATACTTTTCCGAATGCTGATT 0.408000 4 28 0 0 0.009096 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C G TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr22:23006960C>G ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 4 21 0 0 0.009096 0 0 CD2 914 broad.mit.edu 37 1 117303238 117303238 + Missense_Mutation SNP G G T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:117303238G>T ENST00000369478.3 + 3 705 c.597G>T c.(595-597)gaG>gaT p.E199D NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 199 Ig-like C2-type. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) CCAGTGTCGAGCCTGTCAGCT 0.557000 4 39 0.00909568 0.00995376 0.009096 1 0 AHNAK 79026 broad.mit.edu 37 11 62291443 62291443 + Missense_Mutation SNP G G C TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr11:62291443G>C ENST00000378024.4 - 5 10720 c.10446C>G c.(10444-10446)ttC>ttG p.F3482L AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3482 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CAGACACACTGAATTTGGGCA 0.453000 45 173 0 0 0.039052 0 0 BCRP7 100133163 broad.mit.edu 37 22 18845995 18845995 + RNA SNP T T C TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr22:18845995T>C ENST00000412938.1 + 0 3353 CATCCCGTCCTGCGCAGGCCG 0.592000 6 60 0 0 0.047766 0 0 ARMC5 79798 broad.mit.edu 37 16 31476071 31476071 + Missense_Mutation SNP A A C TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr16:31476071A>C ENST00000457010.2 + 4 2428 c.1727A>C c.(1726-1728)aAc>aCc p.N576T ARMC5_ENST00000563544.1_Missense_Mutation_p.N576T|ARMC5_ENST00000412665.2_Missense_Mutation_p.N220T|ARMC5_ENST00000538189.1_Missense_Mutation_p.N608T|ARMC5_ENST00000408912.3_Missense_Mutation_p.N671T|ARMC5_ENST00000268314.4_Missense_Mutation_p.N576T NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 576 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CTCACCTGCAACCCTGCCTGC 0.721000 4 28 0 0 0.058154 0 0 TFRC 7037 broad.mit.edu 37 3 195778819 195778819 + Missense_Mutation SNP C C A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:195778819C>A ENST00000360110.4 - 19 2446 c.2277G>T c.(2275-2277)gaG>gaT p.E759D TFRC_ENST00000392396.3_Missense_Mutation_p.E759D|TFRC_ENST00000420415.1_Missense_Mutation_p.E678D|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.E477D NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 759 Ligand-binding. cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) ACATTTAAAACTCATTGTCAA 0.438000 T BCL6 NHL 56 123 3.89483e-19 5.13409e-19 0.048971 1 0 CXorf22 170063 broad.mit.edu 37 X 35969399 35969399 + Missense_Mutation SNP G G A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chrX:35969399G>A ENST00000297866.5 + 5 874 c.808G>A c.(808-810)Gca>Aca p.A270T NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 270 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 AATTAAACATGCACGTGTATA 0.418000 18 59 0 0 0.038395 0 0 UVSSA 57654 broad.mit.edu 37 4 1377656 1377656 + Missense_Mutation SNP A A C TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr4:1377656A>C ENST00000389851.4 + 13 2411 c.1964A>C c.(1963-1965)tAc>tCc p.Y655S UVSSA_ENST00000511216.1_Missense_Mutation_p.Y655S|UVSSA_ENST00000511563.1_Missense_Mutation_p.Y206S|UVSSA_ENST00000507531.1_Missense_Mutation_p.Y655S|UVSSA_ENST00000512728.1_Missense_Mutation_p.Y206S NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 655 AAGAGGAGGTACCCCAGCCTC 0.602000 11 100 0 0 0.039052 0 0 KRT85 3891 broad.mit.edu 37 12 52760942 52760942 + Missense_Mutation SNP C C T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr12:52760942C>T ENST00000257901.3 - 1 323 c.248G>A c.(247-249)cGc>cAc p.R83H NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 83 Head. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) GCCCCCGGAGCGGTAGCCGAA 0.692000 9 60 0 0 0.024245 0 0 SSU72 29101 broad.mit.edu 37 1 1500119 1500120 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:1500119_1500120insG ENST00000359060.4 - 2 283_284 c.257_258insC c.(256-258)ctgfs p.L86fs SSU72_ENST00000291386.3_Intron Q9NP77 SSU72_HUMAN SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) 0 mRNA processing cytoplasm|nucleus phosphoprotein phosphatase activity large_intestine(2)|lung(5) 7 all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GAGGACCACACGGGGGGTTTTT 0.505 18 1797 --- --- --- --- ERRFI1 54206 broad.mit.edu 37 1 8074377 8074378 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:8074377_8074378insG ENST00000377482.5 - 4 504_505 c.281_282insC c.(280-282)cctfs p.P94fs ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_Frame_Shift_Ins_p.F69fs NM_018948.3 NP_061821.1 Q9UJM3 ERRFI_HUMAN ERBB receptor feedback inhibitor 1 94 lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis cytoplasm|extrinsic to internal side of plasma membrane|nucleus protein kinase binding|Rho GTPase activator activity breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2) 16 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) GAATAAGAAGAGGGGGCAAGCT 0.460 7 2194 --- --- --- --- VPS13D 55187 broad.mit.edu 37 1 12422832 12422833 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:12422832_12422833insC ENST00000358136.3 + 51 10328_10329 c.10198_10199insC c.(10198-10200)cccfs p.P3400fs VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3399 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGTCATCTTTGCCCCCCGTTAC 0.426 8 356 --- --- --- --- TMEM82 388595 broad.mit.edu 37 1 16073524 16073525 + In_Frame_Ins INS - - GAT rs55947911 byFrequency TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:16073524_16073525insGAT ENST00000375782.1 + 5 1058_1059 c.920_921insGAT c.(919-921)act>aGATct p.307_307T>RS RP11-169K16.4_ENST00000418525.1_RNA NM_001013641.1 NP_001013663.1 A0PJX8 TMM82_HUMAN transmembrane protein 82 307 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1) 13 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGCGTCCGCACCCTGCTTGACC 0.624 4 6 --- --- --- --- KIAA1522 57648 broad.mit.edu 37 1 33233494 33233495 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:33233494_33233495insC ENST00000401073.2 + 2 412_413 c.342_343insC c.(340-345)cgccccfs p.RP114fs KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 55 S -> P (in dbSNP:rs3737994). 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) CCAGTGGGCGACCCCCCCACCT 0.614 7 176 --- --- --- --- AGO1 26523 broad.mit.edu 37 1 36354044 36354045 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:36354044_36354045insC ENST00000373204.4 + 2 255_256 c.42_43insC c.(40-45)ctccccfs p.LP14fs AGO1_ENST00000373206.1_5'UTR NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 GCGCTTACCTGCCCCCCCTGCA 0.569 7 111 --- --- --- --- PIK3R3 8503 broad.mit.edu 37 1 46546323 46546324 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:46546323_46546324insC ENST00000262741.5 - 2 894_895 c.205_206insG c.(205-207)tatfs p.Y69fs PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.Y115fs NM_003629.3 NP_003620.3 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 (gamma) 69 SH2 1. insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding endometrium(1)|large_intestine(5)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(166;0.155) CCTTGAAATATCCCCCCAGTAC 0.381 13 865 --- --- --- --- LRP8 7804 broad.mit.edu 37 1 53728210 53728211 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:53728210_53728211insC ENST00000306052.6 - 11 1782_1783 c.1681_1682insG c.(1681-1683)ccafs p.P561fs LRP8_ENST00000371454.2_Frame_Shift_Ins_p.P561fs|LRP8_ENST00000465675.1_Frame_Shift_Ins_p.P114fs|LRP8_ENST00000347547.2_Frame_Shift_Ins_p.P391fs|LRP8_ENST00000354412.3_Frame_Shift_Ins_p.P432fs NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 561 cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 CTTGGCCTGGTCCCCCCAGTCA 0.515 10 389 --- --- --- --- FAM151A 338094 broad.mit.edu 37 1 55081756 55081757 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:55081756_55081757insG ENST00000302250.2 - 3 511_512 c.351_352insC c.(349-354)ccctatfs p.Y118fs ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 118 integral to membrane p.T118fs*43(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 CTGTAGATAGTGGGGGGGTGTG 0.594 19 262 --- --- --- --- DAB1 1600 broad.mit.edu 37 1 57491653 57491654 + Splice_Site INS - - G rs138352976 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:57491653_57491654insG ENST00000371236.2 - 10 1049_1050 c.e10+1 DAB1_ENST00000439789.2_Splice_Site|DAB1_ENST00000371231.1_Splice_Site|DAB1_ENST00000414851.2_Splice_Site|DAB1_ENST00000371234.4_Splice_Site|DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000485760.1_Splice_Site O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) cell differentiation|nervous system development 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 TGCATACTTACGGGGGGAGAGG 0.465 9 511 --- --- --- --- GBP7 388646 broad.mit.edu 37 1 89613321 89613322 + Frame_Shift_Ins INS - - C rs138127555 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:89613321_89613322insC ENST00000294671.2 - 8 1431_1432 c.1293_1294insG c.(1291-1296)ggacaafs p.Q432fs NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 432 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TAGATATTGTGCCCCCCCGGAA 0.436 14 165 --- --- --- --- EPHX4 253152 broad.mit.edu 37 1 92511121 92511122 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:92511121_92511122insG ENST00000370383.4 + 4 606_607 c.508_509insG c.(508-510)gggfs p.G170fs NM_173567.4 NP_775838.3 Q8IUS5 EPHX4_HUMAN epoxide hydrolase 4 170 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(3)|lung(8) 12 TGGCCATGACTGGGGGGGCATG 0.386 13 227 --- --- --- --- OVGP1 5016 broad.mit.edu 37 1 111959046 111959047 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:111959046_111959047insC ENST00000369732.3 - 10 1109_1110 c.1054_1055insG c.(1054-1056)catfs p.H352fs OVGP1_ENST00000540696.1_3'UTR NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 352 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) CCACACCATGGCCCCCCCAAAA 0.505 13 229 --- --- --- --- ITGA10 8515 broad.mit.edu 37 1 145534121 145534122 + Frame_Shift_Ins INS - - C rs147270843 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:145534121_145534122insC ENST00000369304.3 + 14 1801_1802 c.1626_1627insC c.(1624-1629)gaccccfs p.DP542fs ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 542 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCAGCCAGAACCCCCCCAGGA 0.554 14 277 --- --- --- --- PIAS3 10401 broad.mit.edu 37 1 145585532 145585533 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:145585532_145585533insG ENST00000393045.2 + 14 1887_1888 c.1797_1798insG c.(1795-1800)ccggggfs p.PG599fs PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 599 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTGTGGCCCCTGGGGGGGCCTT 0.663 15 190 --- --- --- --- SV2A 9900 broad.mit.edu 37 1 149885018 149885019 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:149885018_149885019insC ENST00000369146.3 - 2 864_865 c.374_375insG c.(373-375)gttfs p.V125fs SV2A_ENST00000369145.1_Frame_Shift_Ins_p.V125fs NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 125 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CATCACTCAAGCCCCCCCTTAC 0.629 7 107 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154246356 154246357 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:154246356_154246357insG ENST00000328703.7 + 3 636_637 c.423_424insG c.(421-426)ttggggfs p.LG141fs HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 141 Involved in HCLS1 binding. F -> L (in SCN3; mild form). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCAGGATCTTTGGGGGGGTCTT 0.554 Kostmann syndrome 7 182 --- --- --- --- MRPL24 79590 broad.mit.edu 37 1 156708444 156708445 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:156708444_156708445insG ENST00000361531.2 - 2 188_189 c.52_53insC c.(52-54)ttafs p.L18fs MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.L18fs Q96A35 RM24_HUMAN mitochondrial ribosomal protein L24 18 translation mitochondrion|ribosome structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(4) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ATAGCGGTAATGGGGGGGCAGA 0.574 10 164 --- --- --- --- OR6K3 391114 broad.mit.edu 37 1 158686981 158686982 + Frame_Shift_Ins INS - - T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:158686981_158686982insT ENST00000368146.1 - 1 971_972 c.972_973insA c.(970-975)aatgttfs p.NV324fs OR6K3_ENST00000368145.1_Frame_Shift_Ins_p.NV308fs Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 324 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) TTGTTCAACACTTTTTGAAGAC 0.391 7 591 --- --- --- --- ADCY10 55811 broad.mit.edu 37 1 167865905 167865906 + Frame_Shift_Ins INS - - G rs35604923 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:167865905_167865906insG ENST00000367848.1 - 7 887_888 c.390_391insC c.(388-393)ccatttfs p.F131fs ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 223 Guanylate cyclase 1. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AAATTAAAATTGGGGGGTGGTT 0.332 9 526 --- --- --- --- GOLT1A 127845 broad.mit.edu 37 1 204170835 204170836 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:204170835_204170836insC ENST00000308302.3 - 3 406_407 c.221_222insG c.(220-222)ggtfs p.G74fs NM_198447.1 NP_940849.1 Q6ZVE7 GOT1A_HUMAN golgi transport 1A 74 protein transport|vesicle-mediated transport Golgi membrane|integral to membrane kidney(1)|lung(2)|urinary_tract(1) 4 all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244) CGATAACCACACCCCCCAGGAG 0.545 9 280 --- --- --- --- PIK3C2B 5287 broad.mit.edu 37 1 204438071 204438072 + Frame_Shift_Ins INS - - G rs115574296 by1000genomes TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:204438071_204438072insG ENST00000367187.3 - 3 1415_1416 c.859_860insC c.(859-861)cacfs p.H287fs PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 287 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding p.R287fs*92(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GGCATAGGTGCGGGGGGGCACC 0.624 17 153 --- --- --- --- CR2 1380 broad.mit.edu 37 1 207642043 207642044 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:207642043_207642044insC ENST00000367057.3 + 3 806_807 c.617_618insC c.(616-618)gccfs p.A206fs CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 206 Sushi 3. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity p.T209fs*10(1) NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TGGAGTGCTGTCCCCCCCACAT 0.396 16 413 --- --- --- --- TRIM17 51127 broad.mit.edu 37 1 228596934 228596935 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:228596934_228596935insG ENST00000366697.2 - 5 1777_1778 c.821_822insC c.(820-822)cacfs p.H274fs TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.H274fs|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.H274fs Q9Y577 TRI17_HUMAN tripartite motif containing 17 274 protein autoubiquitination intracellular protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10 Prostate(94;0.0724) TGGGTCTGGTTGGGGGGGCAAC 0.579 7 67 --- --- --- --- SIPA1L2 57568 broad.mit.edu 37 1 232650637 232650638 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr1:232650637_232650638insG ENST00000366630.1 - 2 806_807 c.448_449insC c.(448-450)aagfs p.K150fs SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 150 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) AAGTCCTCTTTGGGGGGAATGG 0.490 7 277 --- --- --- --- ITSN2 50618 broad.mit.edu 37 2 24439071 24439072 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:24439071_24439072insC ENST00000355123.4 - 32 4279_4280 c.3836_3837insG c.(3835-3837)ggafs p.G1279fs AC009228.1_ENST00000430105.1_RNA|AC009228.1_ENST00000413989.1_RNA|ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.G1252fs|AC009228.1_ENST00000413254.1_RNA NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 1279 DH. GEKMPVQ -> VDAAANS (in Ref. 6; AAD00899). endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCATCTTCTCGCCCCCGGTCTT 0.525 7 928 --- --- --- --- PAPOLG 64895 broad.mit.edu 37 2 61021134 61021135 + Frame_Shift_Ins INS - - C rs140373990 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:61021134_61021135insC ENST00000238714.3 + 19 2046_2047 c.1797_1798insC c.(1795-1800)tcccccfs p.SP599fs NM_022894.3 NP_075045.2 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma 599 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) AAACTGTATCACCCCCCACTGT 0.401 8 210 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89082293 89082294 + RNA INS - - ATTT TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:89082293_89082294insATTT ENST00000393525.3 + 0 503 ATTAAAGTCTCATATGTTGAAC 0.332 8 40 --- --- --- --- SAP130 79595 broad.mit.edu 37 2 128707524 128707525 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:128707524_128707525insG ENST00000357702.5 - 18 2924_2925 c.2793_2794insC c.(2791-2796)ccttacfs p.Y932fs SAP130_ENST00000259234.6_Frame_Shift_Ins_p.Y905fs|SAP130_ENST00000259235.3_Frame_Shift_Ins_p.Y897fs NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 897 Interactions with SIN3A and HDAC1. histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) AGCAAAGTAATGGGGGGTCTTG 0.460 7 444 --- --- --- --- FIGN 55137 broad.mit.edu 37 2 164467542 164467543 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:164467542_164467543insC ENST00000333129.3 - 3 1113_1114 c.799_800insG c.(799-801)accfs p.T267fs FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 267 Pro-rich. nuclear matrix ATP binding|nucleoside-triphosphatase activity p.A267fs*100(2) breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 CGGAGGCGGTGCCCCCCCAGGG 0.609 8 105 --- --- --- --- SCN1A 6323 broad.mit.edu 37 2 166903319 166903321 + In_Frame_Del DEL CTG CTG - TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:166903319_166903321delCTG ENST00000423058.2 - 9 1353_1355 c.1336_1338delCAG c.(1336-1338)del p.Q446del AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_In_Frame_Del_p.Q446del|SCN1A_ENST00000303395.4_In_Frame_Del_p.Q446del NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 446 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) GTTCAATCATCTGCTGAAATTCG 0.458 45 69 --- --- --- --- ITGAV 3685 broad.mit.edu 37 2 187521084 187521085 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:187521084_187521085insG ENST00000261023.3 + 17 1949_1950 c.1675_1676insG c.(1675-1677)gggfs p.G559fs ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 559 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GACTATTTCAAGGGGGGGACTG 0.431 7 274 --- --- --- --- HECW2 57520 broad.mit.edu 37 2 197171262 197171263 + Frame_Shift_Ins INS - - G rs144884935 byFrequency TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:197171262_197171263insG ENST00000260983.2 - 13 2945_2946 c.2763_2764insC c.(2761-2766)cctgaafs p.E922fs HECW2_ENST00000409111.1_Frame_Shift_Ins_p.E566fs NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 922 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 AGGAACTTCACGGGGGGAGACT 0.530 7 290 --- --- --- --- RQCD1 9125 broad.mit.edu 37 2 219449363 219449364 + Frame_Shift_Ins INS - - T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:219449363_219449364insT ENST00000273064.6 + 4 724_725 c.349_350insT c.(349-351)tttfs p.F117fs RQCD1_ENST00000295701.5_Frame_Shift_Ins_p.F117fs|RQCD1_ENST00000542068.1_Frame_Shift_Ins_p.F117fs|RQCD1_ENST00000509807.2_Frame_Shift_Ins_p.F117fs NM_005444.2 NP_005435.1 Q92600 RCD1_HUMAN RCD1 required for cell differentiation1 homolog (S. pombe) 117 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1) 15 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACACATCCCACTTTTTTTGTAC 0.416 7 582 --- --- --- --- INPP5D 3635 broad.mit.edu 37 2 234072358 234072359 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:234072358_234072359insC ENST00000359570.5 + 14 1210_1211 c.1210_1211insC c.(1210-1212)cccfs p.P404fs INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 416 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TGAAGGTAACGCCCCCCCTCCC 0.535 15 283 --- --- --- --- SETD5 55209 broad.mit.edu 37 3 9517294 9517295 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:9517294_9517295insC ENST00000402466.1 + 24 4322_4323 c.3554_3555insC c.(3553-3555)accfs p.T1185fs SETD5_ENST00000402198.1_Frame_Shift_Ins_p.T1283fs|SETD5_ENST00000407969.1_Frame_Shift_Ins_p.T1302fs|SETD5_ENST00000302463.6_Frame_Shift_Ins_p.T1185fs|SETD5_ENST00000406341.1_Frame_Shift_Ins_p.T1283fs Q9C0A6 SETD5_HUMAN SET domain containing 5 1283 Ser-rich. NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) AGACCTGGAAACCCCCCCTCTC 0.550 11 259 --- --- --- --- FANCD2 2177 broad.mit.edu 37 3 10088407 10088410 + Splice_Site DEL AGTA AGTA - rs146316187 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:10088407_10088410delAGTA ENST00000287647.3 + 15 1371 c.1278_splice c.e15+1 p.426_splice FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 426 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TTCATTACTTAGTAAGTGTCAGAG 0.358 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 36 66 --- --- --- --- ZFYVE20 64145 broad.mit.edu 37 3 15115298 15115299 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:15115298_15115299insC ENST00000253699.3 - 14 2958_2959 c.2345_2346insG c.(2344-2346)gacfs p.D782fs ZFYVE20_ENST00000476527.2_Frame_Shift_Ins_p.D782fs NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 782 Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 GTCAGTCAGTGCCCCCCTTCTG 0.624 8 385 --- --- --- --- TRANK1 9881 broad.mit.edu 37 3 36876345 36876345 + Frame_Shift_Del DEL G G - TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:36876345delG ENST00000429976.2 - 20 5686 c.5439delC c.(5437-5439)ttfs p.F1813fs TRANK1_ENST00000301807.6_Frame_Shift_Del_p.F1263fs|TRANK1_ENST00000428977.2_Frame_Shift_Del_p.F1263fs O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1813 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CAAAGCATCTGAAAGCGTCTT 0.388 25 95 --- --- --- --- TRAK1 22906 broad.mit.edu 37 3 42242449 42242450 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:42242449_42242450insC ENST00000327628.5 + 12 1730_1731 c.1330_1331insC c.(1330-1332)cccfs p.P444fs TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Frame_Shift_Ins_p.P386fs|TRAK1_ENST00000341421.3_Frame_Shift_Ins_p.P386fs|TRAK1_ENST00000449246.1_Frame_Shift_Ins_p.P370fs NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 444 Interaction with HGS. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 CTGCGTCAGCACCCCCCGGTCC 0.594 7 221 --- --- --- --- ALAS1 211 broad.mit.edu 37 3 52246391 52246392 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:52246391_52246392insC ENST00000394965.2 + 11 2077_2078 c.1717_1718insC c.(1717-1719)cccfs p.P573fs ALAS1_ENST00000484952.1_Frame_Shift_Ins_p.P573fs|ALAS1_ENST00000469224.1_Frame_Shift_Ins_p.P573fs|ALAS1_ENST00000310271.2_Frame_Shift_Ins_p.P573fs NM_000688.5 NP_000679.1 P13196 HEM1_HUMAN aminolevulinate, delta-, synthase 1 573 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CCTACGGATTGCCCCCACCCCT 0.515 12 1927 --- --- --- --- PRKCD 5580 broad.mit.edu 37 3 53220652 53220653 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:53220652_53220653insG ENST00000394729.2 + 13 1621_1622 c.1293_1294insG c.(1291-1296)aaggggfs p.KG431fs PRKCD_ENST00000330452.3_Frame_Shift_Ins_p.KG431fs NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 431 Protein kinase. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) AGTTCCTCAACGGGGGGGACCT 0.604 7 264 --- --- --- --- ARHGEF3 50650 broad.mit.edu 37 3 56789130 56789131 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:56789130_56789131insG ENST00000413728.2 - 3 814_815 c.271_272insC c.(271-273)accfs p.T91fs ARHGEF3_ENST00000296315.3_Frame_Shift_Ins_p.T85fs|ARHGEF3_ENST00000338458.4_Frame_Shift_Ins_p.T117fs|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000495373.1_Frame_Shift_Ins_p.T85fs|ARHGEF3_ENST00000497267.1_Frame_Shift_Ins_p.T56fs|ARHGEF3_ENST00000496106.1_Frame_Shift_Ins_p.T91fs NM_001128616.1 NP_001122088.1 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor (GEF) 3 85 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) GGACCAGGGTCGGGGGGCGAGG 0.579 16 644 --- --- --- --- ROBO2 6092 broad.mit.edu 37 3 77657037 77657038 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:77657037_77657038insC ENST00000461745.1 + 21 4125_4126 c.3225_3226insC c.(3223-3228)ccccccfs p.PP1075fs ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Frame_Shift_Ins_p.PP1075fs|ROBO2_ENST00000487694.3_Frame_Shift_Ins_p.PP1091fs NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1075 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding p.V1079fs*22(1)|p.V1095fs*22(1) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TCCCTCTACCTCCCCCCCCAGT 0.431 11 85 --- --- --- --- TAGLN3 29114 broad.mit.edu 37 3 111718404 111718405 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:111718404_111718405insC ENST00000393917.2 + 2 687_688 c.135_136insC c.(133-138)ccccccfs p.PP45fs TAGLN3_ENST00000478951.1_Frame_Shift_Ins_p.PP45fs|TAGLN3_ENST00000273368.4_Frame_Shift_Ins_p.PP45fs|TAGLN3_ENST00000455401.2_Frame_Shift_Ins_p.PP45fs NM_013259.2 NP_037391.2 Q9UI15 TAGL3_HUMAN transgelin 3 45 CH. central nervous system development|muscle organ development endometrium(2)|lung(5)|urinary_tract(1) 8 TAGAGCACCCGCCCCCCGGCAG 0.614 10 215 --- --- --- --- KIAA2018 205717 broad.mit.edu 37 3 113375177 113375178 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:113375177_113375178insG ENST00000316407.4 - 7 5761_5762 c.5351_5352insC c.(5350-5352)cccfs p.P1784fs KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Ins_p.P1784fs NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1784 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity p.P1784Q(1) NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GGTCAATTGGTGGGGGGCCAGT 0.426 8 639 --- --- --- --- GPR156 165829 broad.mit.edu 37 3 119885959 119885960 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:119885959_119885960insC ENST00000464295.1 - 10 2809_2810 c.2364_2365insG c.(2362-2367)ggtggcfs p.G789fs GPR156_ENST00000461057.1_Frame_Shift_Ins_p.G785fs|GPR156_ENST00000315843.3_Frame_Shift_Ins_p.G789fs Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 789 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) CAGGAAGCCAGCCCCCCAGTAG 0.550 7 374 --- --- --- --- MUC13 56667 broad.mit.edu 37 3 124646628 124646629 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:124646628_124646629insG ENST00000311075.3 - 2 299_300 c.261_262insC c.(259-264)cctaatfs p.N88fs NM_033049.3 NP_149038.3 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 88 Thr-rich. extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 GTACTAATTATGGGGGGAGCAG 0.441 8 1117 --- --- --- --- TRH 7200 broad.mit.edu 37 3 129695642 129695643 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:129695642_129695643insG ENST00000302649.3 + 3 839_840 c.312_313insG c.(310-315)gaggggfs p.EG104fs TRH_ENST00000507066.1_Frame_Shift_Ins_p.EG100fs NM_007117.3 NP_009048.1 P20396 TRH_HUMAN thyrotropin-releasing hormone 104 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 14 aagaggaagaagggggggCTGT 0.569 11 147 --- --- --- --- TF 7018 broad.mit.edu 37 3 133476713 133476714 + Frame_Shift_Ins INS - - C rs148358704 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:133476713_133476714insC ENST00000402696.3 + 8 1456_1457 c.971_972insC c.(970-972)gccfs p.A324fs TF_ENST00000264998.3_Frame_Shift_Ins_p.A197fs NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 324 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) TTTTTAAAAGTCCCCCCCAGGA 0.485 7 174 --- --- --- --- ABCC5 10057 broad.mit.edu 37 3 183700629 183700630 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:183700629_183700630insC ENST00000334444.6 - 6 997_998 c.757_758insG c.(757-759)catfs p.H253fs ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 253 ABC transmembrane type-1 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GGTTAGGATGGCCCCCCGCAAG 0.515 11 555 --- --- --- --- HTR3C 170572 broad.mit.edu 37 3 183777416 183777417 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:183777416_183777417insC ENST00000318351.1 + 7 947_948 c.913_914insC c.(913-915)cccfs p.P305fs NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 305 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TGCCAGTGGCACCCCCCTCATC 0.584 8 481 --- --- --- --- TMEM41A 90407 broad.mit.edu 37 3 185212517 185212518 + Frame_Shift_Ins INS - - A rs150885877 byFrequency TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:185212517_185212518insA ENST00000421852.1 - 4 562_563 c.467_468insT c.(466-468)tttfs p.F156fs TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron NM_080652.3 NP_542383.1 Q96HV5 TM41A_HUMAN transmembrane protein 41A 156 integral to membrane large_intestine(1)|lung(2)|skin(1) 4 all_cancers(143;7.78e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AAAACAATAAGAAAAAAAACAA 0.446 7 236 --- --- --- --- UBXN7 26043 broad.mit.edu 37 3 196094916 196094917 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr3:196094916_196094917insG ENST00000296328.4 - 8 890_891 c.816_817insC c.(814-819)ccaaaafs p.PK272fs UBXN7_ENST00000535858.1_Frame_Shift_Ins_p.PK124fs|UBXN7_ENST00000428095.1_Frame_Shift_Ins_p.PK110fs NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 272 protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GCACATTTTTTGGGGGGACTGC 0.396 8 412 --- --- --- --- LETM1 3954 broad.mit.edu 37 4 1843235 1843236 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:1843235_1843236insG ENST00000302787.2 - 3 728_729 c.432_433insC c.(430-435)cccagafs p.R145fs NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 145 cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) ACCACCTCTGCGGGGGGGCTGT 0.604 22 278 --- --- --- --- FAM193A 8603 broad.mit.edu 37 4 2661592 2661593 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:2661592_2661593insC ENST00000324666.5 + 8 1034_1035 c.683_684insC c.(682-684)gccfs p.A228fs FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 228 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 GGTATCATGGACCCCCCCGTCA 0.525 14 285 --- --- --- --- LGI2 55203 broad.mit.edu 37 4 25005320 25005321 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:25005320_25005321insC ENST00000382114.4 - 8 1575_1576 c.1390_1391insG c.(1390-1392)catfs p.H464fs NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 464 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) CAGGGTCATGGCCCCCCGGGAT 0.515 12 421 --- --- --- --- UNC5C 8633 broad.mit.edu 37 4 96140293 96140294 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:96140293_96140294insG ENST00000453304.1 - 9 1819_1820 c.1471_1472insC c.(1471-1473)agafs p.R491fs UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 491 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GAGGTCATCTTGGGGGGTGACA 0.505 8 426 --- --- --- --- FBXW7 55294 broad.mit.edu 37 4 153244155 153244156 + Frame_Shift_Ins INS - - C rs7679116 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:153244155_153244156insC ENST00000281708.4 - 12 3230_3231 c.2001_2002insG c.(1999-2004)gggtggfs p.W668fs FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.W492fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.W550fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.W588fs NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 668 S -> G (in dbSNP:rs7679116). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.S668fs*39(1)|p.S668fs*26(1)|p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ACTCCCCCACTCCCCCCACTCT 0.485 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 8 442 --- --- --- --- SORBS2 8470 broad.mit.edu 37 4 186515043 186515044 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:186515043_186515044insC ENST00000431808.1 - 20 3693_3694 c.3130_3131insG c.(3130-3132)accfs p.T1044fs RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.T588fs|SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.T605fs|SORBS2_ENST00000284776.7_Frame_Shift_Ins_p.T1044fs|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.T768fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.T675fs|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.T948fs|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.T610fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.T1144fs O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 1044 SH3 3. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.E1044fs*8(2)|p.E605fs*8(2) endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TACTTACGGTTCCCCCCCACCT 0.356 15 260 --- --- --- --- TLR3 7098 broad.mit.edu 37 4 186997804 186997805 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:186997804_186997805insG ENST00000296795.2 + 2 135_136 c.31_32insG c.(31-33)gggfs p.G11fs NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 11 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TATCTACTTTTGGGGGGGCCTT 0.446 15 338 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187558038 187558039 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:187558038_187558039insG ENST00000441802.2 - 5 3881_3882 c.3672_3673insC c.(3670-3675)ccaatcfs p.I1225fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1225 Cadherin 10. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ATGGTTGATTTGGGGGGACTAC 0.361 HNSCC(5;0.00058) 13 693 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 31799540 31799541 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:31799540_31799541insC ENST00000438447.1 + 2 573_574 c.185_186insC c.(184-186)accfs p.T62fs PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.T62fs O15018 PDZD2_HUMAN PDZ domain containing 2 62 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus p.E65fs*34(1)|p.E65fs*21(1) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CCTGATCACAGCCCCCCCGAAA 0.589 13 318 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 31995791 31995797 + Frame_Shift_Del DEL TCACTCA TCACTCA - TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:31995791_31995797delTCACTCA ENST00000438447.1 + 4 1476_1482 c.1088_1094delTCACTCA c.(1087-1095)gafs p.VTQ363fs PDZD2_ENST00000282493.3_Frame_Shift_Del_p.VTQ363fs O15018 PDZD2_HUMAN PDZ domain containing 2 363 PDZ 2. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GCTATCGTTGTCACTCAAGTGAAGGAA 0.570 134 187 --- --- --- --- FYB 2533 broad.mit.edu 37 5 39202090 39202091 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:39202090_39202091insC ENST00000351578.6 - 2 1162_1163 c.972_973insG c.(970-975)ggcatgfs p.M325fs FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 325 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding p.P325A(3)|p.P335A(1) endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TGGCCCCATGGCCCCCCCACTG 0.540 7 118 --- --- --- --- MOCS2 4338 broad.mit.edu 37 5 52402939 52402940 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:52402939_52402940insG ENST00000361377.4 - 3 293_294 c.252_253insC c.(250-255)ccttagfs p.*85fs MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs O96033 MOC2A_HUMAN molybdenum cofactor synthesis 2 85 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex nucleotide binding endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(810;3.08e-05)|Breast(144;0.0848) CCTCCACTAATGGGGGGGATAA 0.426 11 235 --- --- --- --- MAP1B 4131 broad.mit.edu 37 5 71495076 71495077 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:71495076_71495077insC ENST00000296755.7 + 5 6192_6193 c.5894_5895insC c.(5893-5895)accfs p.T1965fs NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1965 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AAGACCACCAGCCCCCCCGAAG 0.485 20 500 --- --- --- --- GCNT4 51301 broad.mit.edu 37 5 74324982 74324983 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:74324982_74324983insG ENST00000322348.4 - 1 1741_1742 c.880_881insC c.(880-882)taafs p.*294fs NM_016591.2 NP_057675.1 Q9P109 GCNT4_HUMAN glucosaminyl (N-acetyl) transferase 4, core 2 294 protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity p.H294fs*2(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) CTGAATGTTATGGGGGGGTGCT 0.366 8 138 --- --- --- --- POLK 51426 broad.mit.edu 37 5 74869655 74869656 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:74869655_74869656insC ENST00000241436.4 + 5 673_674 c.501_502insC c.(499-504)gtccccfs p.VP167fs POLK_ENST00000504026.1_Frame_Shift_Ins_p.VP167fs|POLK_ENST00000380481.3_Frame_Shift_Ins_p.VP77fs|POLK_ENST00000508526.1_Frame_Shift_Ins_p.VP167fs|POLK_ENST00000352007.5_Frame_Shift_Ins_p.VP167fs|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000515295.1_Frame_Shift_Ins_p.VP167fs NM_016218.2 NP_057302.1 Q9UBT6 POLK_HUMAN polymerase (DNA directed) kappa 167 UmuC. DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 27 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) TTATAATAGTGCCCCCCAACTT 0.441 DNA polymerases (catalytic subunits) 7 219 --- --- --- --- FBN2 2201 broad.mit.edu 37 5 127648336 127648337 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:127648336_127648337insG ENST00000508053.1 - 43 5842_5843 c.4868_4869insC c.(4867-4869)cgtfs p.R1623fs FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs P35556 FBN2_HUMAN fibrillin 2 1623 TB 6. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.P1623P(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TGCTATTGACAGGGGGGCATGT 0.505 8 665 --- --- --- --- SLC22A5 6584 broad.mit.edu 37 5 131722730 131722731 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:131722730_131722731insC ENST00000245407.3 + 5 1059_1060 c.838_839insC c.(838-840)cccfs p.P280fs SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.P304fs NM_003060.3 NP_003051.1 O76082 S22A5_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 5 280 positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 8 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) CATCCCTGAGTCCCCCCGATGG 0.545 OREG0016767 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 713 --- --- --- --- EGR1 1958 broad.mit.edu 37 5 137803131 137803132 + Frame_Shift_Ins INS - - C rs148475837 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:137803131_137803132insC ENST00000239938.4 + 2 1265_1266 c.993_994insC c.(991-996)acccccfs p.TP331fs NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 331 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CCAGCAAGACGCCCCCCCACGA 0.649 8 105 --- --- --- --- ARAP3 64411 broad.mit.edu 37 5 141049341 141049342 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:141049341_141049342insC ENST00000239440.4 - 16 2351_2352 c.2286_2287insG c.(2284-2289)ggggatfs p.D763fs ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 763 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TGCTGGATCCTCCCCCCAGCGA 0.579 12 591 --- --- --- --- PCDH12 51294 broad.mit.edu 37 5 141336747 141336748 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:141336747_141336748insG ENST00000231484.3 - 1 1879_1880 c.669_670insC c.(667-672)ccagtcfs p.V224fs NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 224 Cadherin 2. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTACCTGACTTGGGGGGGTTCC 0.480 13 248 --- --- --- --- PPP2R2B 5521 broad.mit.edu 37 5 145969651 145969652 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:145969651_145969652insC ENST00000394413.3 - 9 1760_1761 c.1190_1191insG c.(1189-1191)gaafs p.E397fs PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000530902.1_5'UTR Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 397 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCTCCGCTTGCCCCCCACACA 0.500 7 666 --- --- --- --- SLC6A7 6534 broad.mit.edu 37 5 149580754 149580755 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:149580754_149580755insC ENST00000230671.2 + 6 1197_1198 c.826_827insC c.(826-828)cccfs p.P276fs SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.P276fs NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 276 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) GTTCTATCTCACCCCCCAGTTC 0.634 9 213 --- --- --- --- SLC6A7 6534 broad.mit.edu 37 5 149581960 149581961 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:149581960_149581961insG ENST00000230671.2 + 7 1280_1281 c.909_910insG c.(907-912)ttggggfs p.LG303fs SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.LG303fs NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 303 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) GTGTGGGCTTCGGGGGGCTCCT 0.569 16 544 --- --- --- --- GALNT10 55568 broad.mit.edu 37 5 153756009 153756010 + Frame_Shift_Ins INS - - C rs139479065 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:153756009_153756010insC ENST00000297107.6 + 5 878_879 c.741_742insC c.(739-744)ctccccfs p.LP247fs SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Frame_Shift_Ins_p.LP247fs|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000377661.2_Intron NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 247 Catalytic subdomain A. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) TCAACTGGCTTCCCCCCTTGCT 0.584 7 254 --- --- --- --- DOCK2 1794 broad.mit.edu 37 5 169141139 169141140 + Frame_Shift_Ins INS - - G rs34864600 byFrequency TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:169141139_169141140insG ENST00000256935.8 + 18 1847_1848 c.1767_1768insG c.(1765-1770)gtggggfs p.VG589fs DOCK2_ENST00000520908.1_Frame_Shift_Ins_p.VG81fs|DOCK2_ENST00000540750.1_5'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 589 DHR-1. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCAGCAGTGTTGGGGGGCTTTC 0.545 10 381 --- --- --- --- KIAA1191 57179 broad.mit.edu 37 5 175774701 175774702 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr5:175774701_175774702insG ENST00000298569.4 - 9 1352_1353 c.819_820insC c.(817-822)ccagatfs p.D274fs KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs NM_020444.3 NP_065177.2 Q96A73 K1191_HUMAN KIAA1191 274 protein binding endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.101) ATGTCCATCTTGGGGGGCTTCA 0.579 7 345 --- --- --- --- GCNT2 2651 broad.mit.edu 37 6 10557409 10557410 + Frame_Shift_Ins INS - - C rs55808116 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr6:10557409_10557410insC ENST00000316170.3 + 1 1170_1171 c.753_754insC c.(751-756)ccccccfs p.PP251fs GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron NM_001491.2 NP_001482.1 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 253 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) TGAAACCGCCTCCCCCCCATAA 0.485 18 369 --- --- --- --- PHACTR1 221692 broad.mit.edu 37 6 13206134 13206135 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr6:13206134_13206135insG ENST00000379350.1 + 7 881_882 c.752_753insG c.(751-753)gggfs p.G251fs PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000379345.2_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 251 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TGTATGCCCGTGGGGGGGCCAG 0.599 9 110 --- --- --- --- DCDC2 51473 broad.mit.edu 37 6 24205282 24205283 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr6:24205282_24205283insC ENST00000378454.3 - 8 1271_1272 c.970_971insG c.(970-972)agcfs p.S324fs DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 324 cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) GACTTCTGCTGCCCCCCGTGTT 0.411 19 1147 --- --- --- --- GABBR1 2550 broad.mit.edu 37 6 29577143 29577144 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr6:29577143_29577144insG ENST00000377034.4 - 15 2056_2057 c.1721_1722insC c.(1720-1722)cgcfs p.R574fs GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000355973.3_Frame_Shift_Ins_p.R457fs|GABBR1_ENST00000377016.4_Frame_Shift_Ins_p.R512fs|GABBR1_ENST00000377012.4_Frame_Shift_Ins_p.R457fs NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 574 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) TCTGGTCAGCTGGGGGGGACCC 0.540 7 172 --- --- --- --- MOG 4340 broad.mit.edu 37 6 29627216 29627217 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr6:29627216_29627217insC ENST00000376894.4 + 2 327_328 c.209_210insC c.(208-210)cccfs p.P70fs MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 70 Ig-like V-type. cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane p.F73fs*29(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 GGGTGGTACCGCCCCCCCTTCT 0.569 13 259 --- --- --- --- C6orf25 80739 broad.mit.edu 37 6 31692528 31692529 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr6:31692528_31692529insC ENST00000375809.3 + 5 558_559 c.547_548insC c.(547-549)cccfs p.P183fs C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 0 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 TTCAGCTCTGTCCCCCCCACAT 0.579 13 236 --- --- --- --- VARS 7407 broad.mit.edu 37 6 31759454 31759455 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr6:31759454_31759455insG ENST00000375663.3 - 8 1472_1473 c.1032_1033insC c.(1030-1035)ccatgtfs p.C345fs VARS_ENST00000444930.2_Frame_Shift_Ins_p.C50fs NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 345 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) CCTGTCACATTGGGGGGTGGGA 0.564 8 156 --- --- --- --- RING1 6015 broad.mit.edu 37 6 33178989 33178990 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr6:33178989_33178990insG ENST00000374656.4 + 5 718_719 c.510_511insG c.(508-513)agggggfs p.RG170fs RING1_ENST00000478431.1_3'UTR NM_002931.3 NP_002922.2 Q06587 RING1_HUMAN ring finger protein 1 170 Necessary for transcriptional repression (By similarity). histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear speck|PcG protein complex protein binding|zinc ion binding endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4) 17 CAACGATGAGTGGGGGGGAAGG 0.619 9 282 --- --- --- --- FANCE 2178 broad.mit.edu 37 6 35425714 35425715 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr6:35425714_35425715insC ENST00000229769.2 + 4 1107_1108 c.922_923insC c.(922-924)cccfs p.P308fs NM_021922.2 NP_068741.1 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 308 Interaction with FANCC. DNA repair nucleoplasm protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2) 13 ATTGGAGGATGCCCCCCCAGTT 0.540 """N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 47 660 --- --- --- --- HTR1E 3354 broad.mit.edu 37 6 87725846 87725847 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr6:87725846_87725847insC ENST00000305344.4 + 2 1497_1498 c.794_795insC c.(793-795)accfs p.T265fs HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 265 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.F268fs*4(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TCCATCAGGATCCCCCCCTTCG 0.510 14 444 --- --- --- --- KIAA0408 9729 broad.mit.edu 37 6 127767595 127767596 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr6:127767595_127767596insC ENST00000483725.3 - 5 2204_2205 c.1868_1869insG c.(1867-1869)gcafs p.A623fs SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 623 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) TCACTTCCTGTCCCCCCCACAC 0.401 23 351 --- --- --- --- EIF3B 8662 broad.mit.edu 37 7 2404085 2404086 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr7:2404085_2404086insG ENST00000360876.4 + 6 1134_1135 c.1078_1079insG c.(1078-1080)gggfs p.G360fs EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 360 Sufficient for interaction with EIF3E. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CATTGCTCTATGGGGGGGAGAG 0.475 19 364 --- --- --- --- CARD11 84433 broad.mit.edu 37 7 2968322 2968323 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr7:2968322_2968323insG ENST00000396946.4 - 13 2066_2067 c.1663_1664insC c.(1663-1665)gagfs p.E555fs NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 555 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.R548L(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GCTGCGGCTCCGGGGGGGCTGC 0.589 Mis DLBCL 12 357 --- --- --- --- PMS2CL 441194 broad.mit.edu 37 7 6759412 6759413 + RNA INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr7:6759412_6759413insG ENST00000486256.1 + 0 346 NR_002217.1 GTGTGCCTCCCGGGGGGGAGGT 0.569 9 126 --- --- --- --- NUPL2 11097 broad.mit.edu 37 7 23224772 23224773 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr7:23224772_23224773insG ENST00000258742.5 + 2 464_465 c.205_206insG c.(205-207)gggfs p.G69fs NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.G69fs|NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron NM_007342.2 NP_031368.1 O15504 NUPL2_HUMAN nucleoporin like 2 69 carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATCCACACCATGGGGGGGCAGC 0.406 14 186 --- --- --- --- CLIP2 7461 broad.mit.edu 37 7 73731900 73731901 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr7:73731900_73731901insC ENST00000223398.6 + 2 351_352 c.24_25insC c.(22-27)aaccccfs p.NP8fs CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.NP8fs|CLIP2_ENST00000395060.1_Frame_Shift_Ins_p.NP8fs NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 8 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 GCGGCCTGAAGCCCCCCGGCCG 0.668 7 319 --- --- --- --- STAG3L1 54441 broad.mit.edu 37 7 74991539 74991539 + RNA DEL C C - TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr7:74991539delC ENST00000402225.5 + 0 434 P0CL83 ST3L1_HUMAN nucleus binding AGAGCATGttctttttttttt 0.418 2 4 --- --- --- --- SPDYE3 441272 broad.mit.edu 37 7 99912173 99912174 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr7:99912173_99912174insC ENST00000332397.6 + 6 1185_1186 c.1001_1002insC c.(1000-1002)accfs p.T334fs SPDYE3_ENST00000437326.2_5'UTR NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 334 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 GTAGATCCCAGCCCCCCGCGTA 0.569 16 631 --- --- --- --- FBXO24 26261 broad.mit.edu 37 7 100187685 100187686 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr7:100187685_100187686insC ENST00000241071.6 + 2 447_448 c.125_126insC c.(124-126)tccfs p.S42fs FBXO24_ENST00000360609.2_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.S42fs|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.S80fs|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.S30fs NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 42 F-box. ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) ATCCAGTTGTTCCCCCCAGAGC 0.569 10 552 --- --- --- --- CPED1 79974 broad.mit.edu 37 7 120911387 120911388 + Frame_Shift_Ins INS - - A rs141494536 byFrequency TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr7:120911387_120911388insA ENST00000310396.5 + 22 3238_3239 c.2771_2772insA c.(2770-2772)gaafs p.E924fs NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 CTGGATACTGCAAAAAAACATG 0.351 7 413 --- --- --- --- CCDC136 64753 broad.mit.edu 37 7 128457829 128457830 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr7:128457829_128457830insC ENST00000297788.4 + 17 3748_3749 c.3381_3382insC c.(3379-3384)aaccccfs p.NP1127fs CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 1127 integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 CTACCCCCAATCCCCCCATCTT 0.520 7 960 --- --- --- --- CPA1 1357 broad.mit.edu 37 7 130023239 130023240 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr7:130023239_130023240insG ENST00000011292.3 + 5 641_642 c.491_492insG c.(490-492)aggfs p.R164fs CPA1_ENST00000484324.1_Frame_Shift_Ins_p.R76fs NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 164 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) CAGTTCAGCACGGGGGGCAGTA 0.614 8 215 --- --- --- --- KDM7A 80853 broad.mit.edu 37 7 139820279 139820280 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr7:139820279_139820280insC ENST00000397560.2 - 8 1198_1199 c.1101_1102insG c.(1099-1104)ggacttfs p.L368fs JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.L368fs NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 368 JmjC. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TGCAGGAAGTTCCCCCCAAAAG 0.356 8 227 --- --- --- --- TRBV4-2 28616 broad.mit.edu 37 7 142045511 142045512 + RNA INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr7:142045511_142045512insC ENST00000390392.3 + 0 160 TTTGTCCCTTTCCCCCCGCAGT 0.485 7 669 --- --- --- --- BNC2 54796 broad.mit.edu 37 9 16436374 16436375 + Frame_Shift_Ins INS - - G rs116528562 byFrequency TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr9:16436374_16436375insG ENST00000380672.4 - 6 1874_1875 c.1817_1818insC c.(1816-1818)cccfs p.P606fs BNC2_ENST00000380667.2_Frame_Shift_Ins_p.P539fs|BNC2_ENST00000380666.2_Frame_Shift_Ins_p.P606fs|BNC2_ENST00000545497.1_Frame_Shift_Ins_p.P511fs NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 606 Pro-rich. 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) CAGAGGGTGGCGGGGGGTGCTG 0.564 11 380 --- --- --- --- RECK 8434 broad.mit.edu 37 9 36112460 36112461 + Frame_Shift_Ins INS - - A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr9:36112460_36112461insA ENST00000377966.3 + 16 2613_2614 c.2047_2048insA c.(2047-2049)aaafs p.K683fs NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 683 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) TAATCCCTGCCAAAAAAACCAA 0.416 32 1621 --- --- --- --- ABCA1 19 broad.mit.edu 37 9 107593322 107593323 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr9:107593322_107593323insC ENST00000374736.3 - 14 2169_2170 c.1775_1776insG c.(1774-1776)gttfs p.V592fs NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 592 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGTAGGCGAAGCCCCCCCAGAC 0.540 8 148 --- --- --- --- ZNF462 58499 broad.mit.edu 37 9 109691601 109691602 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr9:109691601_109691602insG ENST00000277225.5 + 3 5697_5698 c.5408_5409insG c.(5407-5409)tggfs p.W1803fs ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs|ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs Q96JM2 ZN462_HUMAN zinc finger protein 462 1803 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 GCCAGCAAGTTGGGGGGCTACT 0.550 8 173 --- --- --- --- TNC 3371 broad.mit.edu 37 9 117797538 117797539 + Frame_Shift_Ins INS - - G rs148674204 byFrequency TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr9:117797538_117797539insG ENST00000350763.4 - 22 6142_6143 c.5731_5732insC c.(5731-5733)ggcfs p.G1911fs TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1911 Fibronectin type-III 15. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GACTGATGCCCGGGGGGGTCGC 0.475 12 274 --- --- --- --- SEC16A 9919 broad.mit.edu 37 9 139345822 139345823 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr9:139345822_139345823insG ENST00000313050.7 - 21 6270_6271 c.6197_6198insC c.(6196-6198)cggfs p.R2066fs SEC16A_ENST00000371706.3_Frame_Shift_Ins_p.R1888fs|SEC16A_ENST00000431893.2_Frame_Shift_Ins_p.R1888fs|SEC16A_ENST00000290037.6_Frame_Shift_Ins_p.R1888fs NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1888 Pro-rich.|Required for interaction with SEC23A. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GATCCCACCCTGGGGGGGCCTC 0.629 7 32 --- --- --- --- FAM171A1 221061 broad.mit.edu 37 10 15262984 15262985 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:15262984_15262985insG ENST00000378116.4 - 6 835_836 c.829_830insC c.(829-831)gttfs p.V277fs FAM171A1_ENST00000477161.1_5'UTR NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 277 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GTACCCCAACTGGGGGGCAATG 0.564 7 310 --- --- --- --- CUBN 8029 broad.mit.edu 37 10 16877089 16877090 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:16877089_16877090insG ENST00000377833.4 - 64 10350_10351 c.10285_10286insC c.(10285-10287)gaafs p.E3429fs NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3429 CUB 26. 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) GGTGTGGTTCTGGGGGGCTGTG 0.450 7 326 --- --- --- --- MKX 283078 broad.mit.edu 37 10 28023574 28023575 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:28023574_28023575insG ENST00000375790.5 - 5 1080_1081 c.648_649insC c.(646-651)ccaatafs p.I217fs MKX_ENST00000419761.1_Frame_Shift_Ins_p.I217fs Q8IYA7 MKX_HUMAN mohawk homeobox 217 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P216P(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 CTCTTGTATTTGGGGGGTGCCA 0.485 12 403 --- --- --- --- ZEB1 6935 broad.mit.edu 37 10 31809832 31809833 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:31809832_31809833insG ENST00000446923.2 + 7 1912_1913 c.1521_1522insG c.(1519-1524)gaggggfs p.EG507fs ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000559858.1_3'UTR NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 523 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) AAAGCTTTGAAGGGGGGGTGAA 0.371 12 382 --- --- --- --- FAM21EP 100421577 broad.mit.edu 37 10 51820739 51820740 + RNA INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:51820739_51820740insG ENST00000456967.1 - 0 1397 NR_038275.1 TTGCCAATCCTGGGGGGCTTCC 0.485 11 616 --- --- --- --- FAM21EP 100421577 broad.mit.edu 37 10 51821327 51821328 + RNA INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:51821327_51821328insG ENST00000456967.1 - 0 1306_1307 NR_038275.1 TCGGTCAGCTTGGGGGGTGCGA 0.520 11 554 --- --- --- --- SEC24C 9632 broad.mit.edu 37 10 75525559 75525560 + Splice_Site INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:75525559_75525560insC ENST00000339365.2 + 11 1530_1531 c.1366_splice c.e11-1 p.VP456_splice SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 456 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) TTCCCACAGTTCCCCCCCAGTA 0.510 41 695 --- --- --- --- HECTD2 143279 broad.mit.edu 37 10 93272060 93272061 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:93272060_93272061insC ENST00000446394.1 + 22 2362_2363 c.2262_2263insC c.(2260-2265)ctccccfs p.LP754fs HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.LP400fs|HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.LP339fs|HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.LP750fs Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 750 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 AACTTTGCCTTCCCCCCTACAA 0.356 8 519 --- --- --- --- TLL2 7093 broad.mit.edu 37 10 98164994 98164995 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:98164994_98164995insG ENST00000357947.3 - 10 1486_1487 c.1261_1262insC c.(1261-1263)tttfs p.F421fs TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 421 CUB 1. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CTTACCCAAAAGGGGGGCTTTT 0.480 8 511 --- --- --- --- CPN1 1369 broad.mit.edu 37 10 101816832 101816833 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:101816832_101816833insG ENST00000370418.3 - 6 1199_1200 c.948_949insC c.(946-951)ccaagafs p.R317fs NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 317 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) AACTCCTCTTCGGGGGGAAACT 0.470 23 937 --- --- --- --- SEC31B 25956 broad.mit.edu 37 10 102265153 102265154 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:102265153_102265154insG ENST00000370345.3 - 10 1240_1241 c.1143_1144insC c.(1141-1146)ccaatgfs p.M382fs SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 382 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CTAATCCATTTGGGGGGTTTTT 0.490 7 532 --- --- --- --- BTRC 8945 broad.mit.edu 37 10 103310572 103310573 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:103310572_103310573insC ENST00000370187.3 + 14 1891_1892 c.1773_1774insC c.(1771-1776)gaccccfs p.DP591fs BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000493877.1_3'UTR NM_033637.3 NP_378663.1 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing E3 ubiquitin protein ligase 591 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 27 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) CCCAAGCTGAACCCCCCCGTTC 0.431 12 416 --- --- --- --- TRUB1 142940 broad.mit.edu 37 10 116730191 116730192 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:116730191_116730192insC ENST00000298746.3 + 5 649_650 c.588_589insC c.(586-591)gtccccfs p.VP196fs NM_139169.4 NP_631908.1 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase family member 1 196 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2) 12 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) TAATGCAAGTGCCCCCCCTGTA 0.317 11 179 --- --- --- --- SLC18A2 6571 broad.mit.edu 37 10 119014791 119014792 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr10:119014791_119014792insC ENST00000298472.5 + 7 847_848 c.704_705insC c.(703-705)gccfs p.A235fs SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 235 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) CCTGCAGTGGGCCCCCCCTTCG 0.569 9 112 --- --- --- --- DCHS1 8642 broad.mit.edu 37 11 6662141 6662142 + Frame_Shift_Ins INS - - G rs143767864 byFrequency TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:6662141_6662142insG ENST00000299441.3 - 2 1114_1115 c.703_704insC c.(703-705)gagfs p.E235fs NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 235 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R235Q(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGGCCCTCCGGGGGGGTGAA 0.589 7 136 --- --- --- --- EIF4G2 1982 broad.mit.edu 37 11 10820934 10820935 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:10820934_10820935insG ENST00000526148.1 - 20 2871_2872 c.2361_2362insC c.(2359-2364)ccgcgafs p.R788fs EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.R788fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.R750fs|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.R788fs NM_001172705.1 NP_001166176.1 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 788 W2. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity p.S788R(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GTTTCATCGCTGGGGGGGTTTA 0.406 7 142 --- --- --- --- LRP4 4038 broad.mit.edu 37 11 46880747 46880748 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:46880747_46880748insC ENST00000378623.1 - 38 5746_5747 c.5504_5505insG c.(5503-5505)gctfs p.A1835fs LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1835 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) CCCGGAGGAGGCCCCCCCGTGA 0.564 12 214 --- --- --- --- SSRP1 6749 broad.mit.edu 37 11 57093916 57093917 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:57093916_57093917insG ENST00000278412.2 - 17 2360_2361 c.2094_2095insC c.(2092-2097)ccgctcfs p.L699fs RP11-872D17.4_ENST00000534162.1_RNA NM_003146.2 NP_003137.1 Q08945 SSRP1_HUMAN structure specific recognition protein 1 699 Ser-rich. DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4) 23 TCCTCTGAGCTGGGGGGAGTAC 0.540 8 291 --- --- --- --- SLC43A3 29015 broad.mit.edu 37 11 57185234 57185235 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:57185234_57185235insG ENST00000395123.2 - 8 961_962 c.657_658insC c.(655-660)ccactafs p.L220fs SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 220 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 TAGCTGTAGTTGGGGGGCAGTG 0.564 11 289 --- --- --- --- PATL1 219988 broad.mit.edu 37 11 59425145 59425146 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:59425145_59425146insG ENST00000300146.9 - 5 562_563 c.478_479insC c.(478-480)gggfs p.G160fs NM_152716.2 NP_689929.2 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 1 (yeast) 160 Pro-rich.|Region N; interaction with decapping machinery. Q -> H (in Ref. 2; BAG54601). cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 TTCTGGACCCTGGGGGGGCCTC 0.455 11 250 --- --- --- --- DDB1 1642 broad.mit.edu 37 11 61093159 61093160 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:61093159_61093160insC ENST00000301764.7 - 6 1082_1083 c.685_686insG c.(685-687)catfs p.H229fs DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 229 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 AATGATGATGGCCCCCCCAAAG 0.490 Nucleotide excision repair (NER) 8 65 --- --- --- --- DDB1 1642 broad.mit.edu 37 11 61094367 61094368 + Splice_Site INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:61094367_61094368insG ENST00000301764.7 - 5 947 c.e5-2 DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 CTGAGGGTCCTGGGGGGGAAAG 0.515 Nucleotide excision repair (NER) 8 185 --- --- --- --- CPSF7 79869 broad.mit.edu 37 11 61183884 61183885 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:61183884_61183885insG ENST00000340437.4 - 6 866_867 c.786_787insC c.(784-789)ccgtgtfs p.C263fs CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 220 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 GGCAGCACACTGGGGGGCTTAT 0.594 10 554 --- --- --- --- MYRF 745 broad.mit.edu 37 11 61539012 61539013 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:61539012_61539013insC ENST00000278836.5 + 6 877_878 c.781_782insC c.(781-783)cccfs p.P261fs MYRF_ENST00000265460.5_Frame_Shift_Ins_p.P252fs|TMEM258_ENST00000535042.1_Intron NM_001127392.1 NP_001120864.1 myelin regulatory factor p.S255fs*74(1) GCACTCTGAATCCCCCCCCAGC 0.634 8 53 --- --- --- --- HRASLS5 117245 broad.mit.edu 37 11 63257814 63257815 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:63257814_63257815insG ENST00000539221.1 - 2 302_303 c.169_170insC c.(169-171)tgafs p.*57fs HRASLS5_ENST00000540857.1_Intron|HRASLS5_ENST00000301790.4_Frame_Shift_Ins_p.*57fs Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 57 endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 TTCTAATTCAAGGGGGGAAATG 0.564 9 479 --- --- --- --- DPP3 10072 broad.mit.edu 37 11 66272154 66272155 + Frame_Shift_Ins INS - - C rs142447712 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:66272154_66272155insC ENST00000532677.1 + 17 2408_2409 c.2007_2008insC c.(2005-2010)gcccccfs p.AP669fs DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 650 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 TCACTGATGCGCCCCCCGAGTG 0.579 7 198 --- --- --- --- NUMA1 4926 broad.mit.edu 37 11 71746964 71746965 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:71746964_71746965insC ENST00000393695.3 - 3 356_357 c.25_26insG c.(25-27)tgcfs p.C9fs NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 9 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 GAGGAGTGCAGCCCCCCGGGTG 0.505 T RARA APL 8 290 --- --- --- --- MYO7A 4647 broad.mit.edu 37 11 76873960 76873961 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:76873960_76873961insC ENST00000409709.3 + 14 1888_1889 c.1616_1617insC c.(1615-1617)accfs p.T539fs MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.T539fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.T528fs|MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.T539fs NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 539 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity p.K542fs*80(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GCCAACTACATCCCCCCCAAGA 0.564 23 252 --- --- --- --- RSF1 51773 broad.mit.edu 37 11 77412023 77412024 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:77412023_77412024insG ENST00000308488.6 - 6 2552_2553 c.2250_2251insC c.(2248-2253)ccaagtfs p.S751fs RSF1_ENST00000480887.1_Frame_Shift_Ins_p.S499fs|RSF1_ENST00000360355.2_Frame_Shift_Ins_p.S720fs Q96T23 RSF1_HUMAN remodeling and spacing factor 1 751 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) TCTAGAACTTTGGGGGGAGAAT 0.411 10 699 --- --- --- --- SRSF8 10929 broad.mit.edu 37 11 94801196 94801197 + RNA INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:94801196_94801197insC ENST00000529911.1 + 0 836_837 NM_032102.3 NP_115285.1 Q9BRL6 SRSF8_HUMAN serine/arginine-rich splicing factor 8 mRNA processing|RNA splicing nucleus nucleotide binding|RNA binding GATCCAAGAGGCCCCCCAAGTC 0.535 7 97 --- --- --- --- CLDN25 644672 broad.mit.edu 37 11 113650550 113650551 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:113650550_113650551insG ENST00000453129.2 + 1 82_83 c.33_34insG c.(31-36)ctggggfs p.LG11fs NM_001101389.1 NP_001094859.1 C9JDP6 CLD25_HUMAN claudin 25 11 integral to membrane|tight junction structural molecule activity p.L14fs*24(1) large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2) 10 AAGTCCAGCTCGGGGGGCTACT 0.550 8 217 --- --- --- --- CCDC153 283152 broad.mit.edu 37 11 119061042 119061043 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:119061042_119061043insG ENST00000503566.2 - 6 598_599 c.599_600insC c.(598-600)cggfs p.R200fs CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.R200fs Q494R4 CC153_HUMAN coiled-coil domain containing 153 200 lung(3)|stomach(1) 4 TCAAAGATCCAGGGGGGGTGAG 0.569 15 284 --- --- --- --- OR10G8 219869 broad.mit.edu 37 11 123900396 123900397 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:123900396_123900397insC ENST00000431524.1 + 1 100_101 c.67_68insC c.(67-69)cccfs p.P23fs NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A23T(1) breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AGCGCTGGACGCCCCCCTCTTT 0.589 8 682 --- --- --- --- ADAMTS8 11095 broad.mit.edu 37 11 130275723 130275724 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:130275723_130275724insG ENST00000257359.6 - 9 3105_3106 c.2399_2400insC c.(2398-2400)caafs p.Q800fs NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 800 Spacer. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) ATTTGACTTTTGGGGGGAAGAC 0.579 9 640 --- --- --- --- NCAPD3 23310 broad.mit.edu 37 11 134048585 134048586 + Frame_Shift_Ins INS - - G rs138442478 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr11:134048585_134048586insG ENST00000534548.2 - 22 2789_2790 c.2725_2726insC c.(2725-2727)ggtfs p.G909fs NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 909 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding p.Q909fs*12(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) ACCTCTGACCTGGGGGGGTGGC 0.525 10 150 --- --- --- --- VWF 7450 broad.mit.edu 37 12 6091108 6091109 + Frame_Shift_Ins INS - - G rs61750632 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:6091108_6091109insG ENST00000261405.5 - 42 7384_7385 c.7130_7131insC c.(7129-7131)ccafs p.P2377fs NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2377 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 p.P2377P(1) 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) GCAAACGGTGCGGGGGGCAGGA 0.604 10 237 --- --- --- --- MRPL51 51258 broad.mit.edu 37 12 6602094 6602095 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:6602094_6602095insG ENST00000229238.3 - 2 584_585 c.123_124insC c.(121-126)ccaagtfs p.S42fs MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_Intron NM_016497.3 NP_057581.2 Q4U2R6 RM51_HUMAN mitochondrial ribosomal protein L51 42 translation mitochondrial large ribosomal subunit protein binding|structural constituent of ribosome kidney(2)|large_intestine(1)|lung(3) 6 TCAACCACTTTGGGGGGCGGGA 0.510 13 188 --- --- --- --- CD4 920 broad.mit.edu 37 12 6924042 6924043 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:6924042_6924043insG ENST00000011653.4 + 5 749_750 c.491_492insG c.(490-492)cggfs p.R164fs CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2 NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1 P01730 CD4_HUMAN CD4 molecule 164 Ig-like C2-type 1. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) AAAAACATACAGGGGGGGAAGA 0.564 9 521 --- --- --- --- C1S 716 broad.mit.edu 37 12 7177938 7177939 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:7177938_7177939insC ENST00000406697.1 + 15 2678_2679 c.2050_2051insC c.(2050-2052)cccfs p.P684fs C1S_ENST00000402681.3_Frame_Shift_Ins_p.P517fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.P684fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.P684fs P09871 C1S_HUMAN complement component 1, s subcomponent 684 complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GGAAAATAGCACCCCCCGTGAG 0.490 8 351 --- --- --- --- PRB1 5542 broad.mit.edu 37 12 11506884 11506885 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:11506884_11506885insG ENST00000500254.2 - 3 189_190 c.152_153insC c.(151-153)cccfs p.P51fs PRB1_ENST00000545626.1_Frame_Shift_Ins_p.P51fs|PRB1_ENST00000546254.1_Frame_Shift_Ins_p.P51fs NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 234 extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) CTGGAGGAGGTGGGGGGCCCTG 0.579 7 592 --- --- --- --- HEBP1 50865 broad.mit.edu 37 12 13142224 13142225 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:13142224_13142225insC ENST00000536942.1 - 2 353_354 c.203_204insG c.(202-204)gacfs p.D68fs HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs Q9NRV9 HEBP1_HUMAN heme binding protein 1 68 circadian rhythm extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 7 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.153) TGTCATTGGTGCCCCCCGCATA 0.554 15 647 --- --- --- --- GRIN2B 2904 broad.mit.edu 37 12 14019043 14019044 + Frame_Shift_Ins INS - - G rs77738206 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:14019043_14019044insG ENST00000279593.3 - 2 308_309 c.99_100insC c.(97-102)ccgcatfs p.H34fs NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 34 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGCCAATGCTGGGGGGGCTCT 0.589 9 118 --- --- --- --- AMHR2 269 broad.mit.edu 37 12 53819644 53819645 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:53819644_53819645insG ENST00000257863.4 + 6 873_874 c.793_794insG c.(793-795)gggfs p.G265fs AMHR2_ENST00000550311.1_Frame_Shift_Ins_p.G265fs|AMHR2_ENST00000379791.3_Frame_Shift_Ins_p.G265fs NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 265 Protein kinase. Mullerian duct regression ATP binding|hormone binding|metal ion binding p.R265W(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) CACTGCCAGCCGGGGGGGTCCT 0.579 7 78 --- --- --- --- PCBP2 5094 broad.mit.edu 37 12 53856277 53856278 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:53856277_53856278insC ENST00000603815.1 + 8 867_868 c.517_518insC c.(517-519)cccfs p.P173fs PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4 NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 173 innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 TCTCTCCCAGTCCCCCCCGAAG 0.500 8 190 --- --- --- --- PDE1B 5153 broad.mit.edu 37 12 54971059 54971060 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:54971059_54971060insC ENST00000243052.3 + 15 1994_1995 c.1558_1559insC c.(1558-1560)cccfs p.P520fs PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs|PPP1R1A_ENST00000547431.1_3'UTR NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 520 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 TGAAGAAGAGGCCCCCCCATCC 0.559 25 498 --- --- --- --- NEUROD4 58158 broad.mit.edu 37 12 55421127 55421128 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:55421127_55421128insC ENST00000242994.3 + 2 1282_1283 c.904_905insC c.(904-906)cccfs p.P302fs NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 302 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 TCAGGCTGGTACCCCCCGTTAT 0.465 12 1107 --- --- --- --- IKZF4 64375 broad.mit.edu 37 12 56429092 56429093 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:56429092_56429093insG ENST00000262032.5 + 12 2102_2103 c.1735_1736insG c.(1735-1737)gggfs p.G579fs IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs Q9H2S9 IKZF4_HUMAN IKAROS family zinc finger 4 (Eos) 579 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) CCACATTGTCCGGGGGGAGCAT 0.554 10 674 --- --- --- --- STAT2 6773 broad.mit.edu 37 12 56742816 56742817 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:56742816_56742817insG ENST00000314128.4 - 17 1490_1491 c.1467_1468insC c.(1465-1470)ccaggcfs p.G490fs STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000556539.1_5'UTR P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 490 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 CAGGGGGCCTTGGGGGGGTTGG 0.594 14 231 --- --- --- --- BAZ2A 11176 broad.mit.edu 37 12 57009177 57009178 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:57009177_57009178insC ENST00000179765.5 - 3 549_550 c.350_351insG c.(349-351)gcafs p.A117fs BAZ2A_ENST00000379441.3_Frame_Shift_Ins_p.A119fs|BAZ2A_ENST00000551812.1_Frame_Shift_Ins_p.A119fs|BAZ2A_ENST00000549884.1_Frame_Shift_Ins_p.A117fs Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 119 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 GTGGGTATTGTCCCCCCGAGAA 0.584 7 292 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57572241 57572242 + Frame_Shift_Ins INS - - G rs139915490 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:57572241_57572242insG ENST00000243077.3 + 27 4927_4928 c.4461_4462insG c.(4459-4464)taggggfs p.*G1487fs NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1487 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGACGCTGTACGGGGGGGAGGT 0.589 8 134 --- --- --- --- GLI1 2735 broad.mit.edu 37 12 57860074 57860075 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:57860074_57860075insG ENST00000228682.2 + 8 905_906 c.814_815insG c.(814-816)gggfs p.G272fs GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 272 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CGTGTGCCACTGGGGGGGCTGC 0.599 38 626 --- --- --- --- DCTN2 10540 broad.mit.edu 37 12 57927805 57927806 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:57927805_57927806insG ENST00000548249.1 - 7 866_867 c.599_600insC c.(598-600)cgafs p.R200fs DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs NM_001261412.1|NM_001261413.1 NP_001248341.1|NP_001248342.1 Q13561 DCTN2_HUMAN dynactin 2 (p50) 200 cell proliferation|G2/M transition of mitotic cell cycle|mitosis centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle motor activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2) 11 GGCTGCTATCTGGGGGGGTCCC 0.500 24 695 --- --- --- --- KIF5A 3798 broad.mit.edu 37 12 57972047 57972048 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:57972047_57972048insG ENST00000455537.2 + 23 2734_2735 c.2460_2461insG c.(2458-2463)agggggfs p.RG820fs KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.RG731fs NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 820 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 CCGAAGACAGTGGGGGGATTCA 0.505 8 1322 --- --- --- --- PIP4K2C 79837 broad.mit.edu 37 12 57995030 57995031 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:57995030_57995031insC ENST00000354947.5 + 9 1100_1101 c.1084_1085insC c.(1084-1086)cccfs p.P362fs PIP4K2C_ENST00000540759.2_Frame_Shift_Ins_p.P362fs|PIP4K2C_ENST00000550465.1_Frame_Shift_Ins_p.P344fs|PIP4K2C_ENST00000422156.3_Frame_Shift_Ins_p.P314fs Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, gamma 362 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Melanoma(17;0.122) TCTCCCAGGAGCCCCCCAGAAG 0.475 10 360 --- --- --- --- MDM2 4193 broad.mit.edu 37 12 69233089 69233090 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:69233089_69233090insC ENST00000462284.1 + 11 1256_1257 c.954_955insC c.(952-957)aaccccfs p.NP318fs MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 oncogene, E3 ubiquitin protein ligase 312 Necessary for interaction with USP2.|Region II. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) ATGAAATGAATCCCCCCCTTCC 0.426 A """sarcoma, glioma, colorectal, other""" 12 416 --- --- --- --- NAV3 89795 broad.mit.edu 37 12 78400511 78400512 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:78400511_78400512insC ENST00000397909.2 + 8 1366_1367 c.1193_1194insC c.(1192-1194)cccfs p.P398fs NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs Q8IVL0 NAV3_HUMAN neuron navigator 3 398 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ACTGCTTTACGCCCCCCGCAGC 0.495 HNSCC(70;0.22) 10 252 --- --- --- --- UHRF1BP1L 23074 broad.mit.edu 37 12 100451839 100451840 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:100451839_100451840insG ENST00000279907.7 - 14 3427_3428 c.3215_3216insC c.(3214-3216)cgtfs p.R1072fs UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 1072 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 GTGTTCTAACTGGGGGGGTCTC 0.371 38 601 --- --- --- --- C12orf42 374470 broad.mit.edu 37 12 103695959 103695960 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:103695959_103695960insG ENST00000548048.1 - 9 1304_1305 c.808_809insC c.(808-810)cccfs p.P270fs C12orf42_ENST00000548883.1_Frame_Shift_Ins_p.P337fs|C12orf42_ENST00000378113.2_Frame_Shift_Ins_p.P337fs|C12orf42_ENST00000315192.8_Intron Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 337 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 CCGGGTTGGGCGGGGGGGTGCT 0.584 20 414 --- --- --- --- TCHP 84260 broad.mit.edu 37 12 110344434 110344435 + Frame_Shift_Ins INS - - A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:110344434_110344435insA ENST00000312777.5 + 5 728_729 c.514_515insA c.(514-516)aaafs p.K172fs TCHP_ENST00000405876.4_Frame_Shift_Ins_p.K172fs NM_032300.4 NP_115676.1 Q9BT92 TCHP_HUMAN trichoplein, keratin filament binding 172 Glu-rich.|Interaction with keratin proteins. apoptosis|negative regulation of cell growth apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2) 22 GCAGAAAGAAGAAAAAAAACAG 0.480 8 374 --- --- --- --- TBX5 6910 broad.mit.edu 37 12 114793735 114793736 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:114793735_114793736insG ENST00000310346.4 - 9 1824_1825 c.1158_1159insC c.(1156-1161)ccgcgafs p.R387fs TBX5_ENST00000405440.2_Frame_Shift_Ins_p.R387fs|TBX5_ENST00000349716.5_Frame_Shift_Ins_p.R337fs NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 387 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) ACAGGCTCGCTGGGGGGCGCAG 0.629 8 184 --- --- --- --- MSI1 4440 broad.mit.edu 37 12 120800902 120800903 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:120800902_120800903insC ENST00000257552.2 - 6 433_434 c.345_346insG c.(343-348)ggtgtcfs p.V116fs NM_002442.3 NP_002433.1 O43347 MSI1H_HUMAN musashi RNA-binding protein 1 116 RRM 2. nervous system development cytoplasm|nucleus nucleotide binding breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTCACCGACAGCCCCCCCACAA 0.564 10 274 --- --- --- --- POLE 5426 broad.mit.edu 37 12 133245023 133245024 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:133245023_133245024insG ENST00000320574.5 - 19 2134_2135 c.2091_2092insC c.(2089-2094)cctgttfs p.V698fs POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 698 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TCTGGGAACAAGGGGGGGAACT 0.599 DNA polymerases (catalytic subunits) 10 209 --- --- --- --- KBTBD6 89890 broad.mit.edu 37 13 41705321 41705322 + Frame_Shift_Ins INS - - C rs147771080 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr13:41705321_41705322insC ENST00000379485.1 - 1 1560_1561 c.1326_1327insG c.(1324-1329)gggagafs p.R443fs KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 443 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) ATAGGGTCTCGCCCCCCCAAAA 0.470 8 164 --- --- --- --- OR4N2 390429 broad.mit.edu 37 14 20295776 20295777 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr14:20295776_20295777insC ENST00000315947.1 + 1 169_170 c.169_170insC c.(169-171)cccfs p.P57fs OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.P57fs NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGGCTCACAGCCCCCCTCTAT 0.475 12 937 --- --- --- --- OR4N5 390437 broad.mit.edu 37 14 20612063 20612064 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr14:20612063_20612064insC ENST00000333629.1 + 1 169_170 c.169_170insC c.(169-171)cccfs p.P57fs NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TGGGCTCACAGCCCCCCTCTAT 0.460 20 1919 --- --- --- --- TMEM55B 90809 broad.mit.edu 37 14 20928945 20928946 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr14:20928945_20928946insG ENST00000250489.4 - 2 487_488 c.201_202insC c.(199-204)ccattcfs p.F68fs TMEM55B_ENST00000398020.4_Frame_Shift_Ins_p.F75fs Q86T03 TM55B_HUMAN transmembrane protein 55B 68 Pro-rich. integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1) 11 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) AAGGGTGAATAGGGGGGTGGGT 0.574 8 288 --- --- --- --- RNASE3 6037 broad.mit.edu 37 14 21359982 21359983 + Frame_Shift_Ins INS - - C rs142084658 by1000genomes TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr14:21359982_21359983insC ENST00000304639.3 + 2 195_196 c.137_138insC c.(136-138)accfs p.T46fs NM_002935.2 NP_002926.2 P12724 ECP_HUMAN ribonuclease, RNase A family, 3 46 defense response to bacterium|RNA catabolic process extracellular region|soluble fraction nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1) 9 all_cancers(95;0.00453) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) Pranlukast(DB01411) ATCAGTCTGAACCCCCCTCGAT 0.480 9 606 --- --- --- --- SUPT16H 11198 broad.mit.edu 37 14 21820849 21820850 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr14:21820849_21820850insG ENST00000216297.2 - 26 3464_3465 c.3126_3127insC c.(3124-3129)ccagaafs p.E1043fs NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 1043 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CTCTTTTTCTTGGGGGGTGCAG 0.480 11 585 --- --- --- --- REC8 9985 broad.mit.edu 37 14 24642563 24642564 + Frame_Shift_Ins INS - - T rs148175635 by1000genomes TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr14:24642563_24642564insT ENST00000311457.3 + 6 1004_1005 c.405_406insT c.(403-408)ccttttfs p.PF135fs REC8_ENST00000559919.1_Frame_Shift_Ins_p.PF135fs O95072 REC8_HUMAN REC8 meiotic recombination protein 135 mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(265;0.00839) CTCCAGATCCCTTTTTTGGGAT 0.530 8 470 --- --- --- --- AKAP6 9472 broad.mit.edu 37 14 32902724 32902725 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr14:32902724_32902725insC ENST00000280979.4 + 2 195_196 c.25_26insC c.(25-27)cccfs p.P9fs AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000554449.1_3'UTR NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 9 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) CGTGACACTTTCCCCCCTGAGG 0.505 11 312 --- --- --- --- C14orf28 122525 broad.mit.edu 37 14 45369723 45369724 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr14:45369723_45369724insG ENST00000325192.3 + 2 360_361 c.85_86insG c.(85-87)gggfs p.G29fs C14orf28_ENST00000557112.1_Frame_Shift_Ins_p.G29fs|RP11-857B24.5_ENST00000555157.1_RNA NM_001017923.1 NP_001017923.1 Q4W4Y0 CN028_HUMAN chromosome 14 open reading frame 28 29 endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2) 11 TGTTCTTCCTTGGGGGGGTGTT 0.376 7 88 --- --- --- --- KCNH5 27133 broad.mit.edu 37 14 63174302 63174303 + Frame_Shift_Ins INS - - G rs35940222 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr14:63174302_63174303insG ENST00000322893.7 - 11 3158_3159 c.2890_2891insC c.(2890-2892)gatfs p.D964fs KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 964 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ACATGGTATCTGGGGGGGTACT 0.391 19 513 --- --- --- --- GALNT16 57452 broad.mit.edu 37 14 69800299 69800300 + Frame_Shift_Ins INS - - G rs144140025 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr14:69800299_69800300insG ENST00000337827.4 + 9 1276_1277 c.949_950insG c.(949-951)gggfs p.G317fs GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 GATGGACATCTGGGGGGGAGAG 0.470 14 226 --- --- --- --- IGHV4-39 28394 broad.mit.edu 37 14 106877817 106877819 + RNA DEL ACT ACT - rs113800876 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr14:106877817_106877819delACT ENST00000390619.2 - 0 224_226 CCCAGTAGTAACTACTACTGCTG 0.596 19 63 --- --- --- --- OR4M2 390538 broad.mit.edu 37 15 22369023 22369024 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr15:22369023_22369024insG ENST00000332663.2 + 1 546_547 c.448_449insG c.(448-450)gggfs p.G150fs RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R150M(2)|p.R150W(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTCTCCTGGAGGGGGGGCTTC 0.500 21 890 --- --- --- --- THBS1 7057 broad.mit.edu 37 15 39881488 39881489 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr15:39881488_39881489insC ENST00000260356.5 + 12 2024_2025 c.1859_1860insC c.(1858-1860)tccfs p.S620fs NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 620 EGF-like 2; calcium-binding (Potential). activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) TGCCTGCCCTGCCCCCCACGCT 0.569 8 594 --- --- --- --- SORD 6652 broad.mit.edu 37 15 45353365 45353366 + Frame_Shift_Ins INS - - C rs11542063 byFrequency TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr15:45353365_45353366insC ENST00000267814.9 + 4 546_547 c.366_367insC c.(364-369)acccccfs p.TP122fs SORD_ENST00000558580.1_Frame_Shift_Ins_p.TP101fs NM_003104.5 NP_003095.2 Q00796 DHSO_HUMAN sorbitol dehydrogenase 122 fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(4) 9 all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122) all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706) NADH(DB00157) TCTGTGCCACGCCCCCCGATGA 0.530 14 303 --- --- --- --- UNC13C 440279 broad.mit.edu 37 15 54630575 54630576 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr15:54630575_54630576insC ENST00000545554.1 + 16 4601_4602 c.4601_4602insC c.(4600-4602)accfs p.T1534fs UNC13C_ENST00000260323.11_Frame_Shift_Ins_p.T1534fs|UNC13C_ENST00000537900.1_Frame_Shift_Ins_p.T1532fs Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1534 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GAGCTGCAAAGCCCCCCAAAAG 0.401 11 419 --- --- --- --- PRTG 283659 broad.mit.edu 37 15 55912218 55912219 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr15:55912218_55912219insG ENST00000389286.4 - 20 3491_3492 c.3444_3445insC c.(3442-3447)ccacctfs p.P1149fs NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 1149 multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) AATCAGAGGTTGGGGGGTGTGG 0.490 12 462 --- --- --- --- RFX7 64864 broad.mit.edu 37 15 56386880 56386881 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr15:56386880_56386881insG ENST00000423270.1 - 9 3044_3045 c.3045_3046insC c.(3043-3048)ccgcccfs p.P1016fs RFX7_ENST00000317318.6_Frame_Shift_Ins_p.P1016fs|RFX7_ENST00000559447.2_Frame_Shift_Ins_p.P919fs|RFX7_ENST00000422057.1_Frame_Shift_Ins_p.P919fs NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 919 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 TCAACAGGGCTGGGGGGGACAC 0.500 8 153 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64967993 64967994 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr15:64967993_64967994insC ENST00000326648.3 + 4 3068_3069 c.2940_2941insC c.(2938-2943)gtccccfs p.VP980fs NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 980 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ATGCCTATGTACCCCCCTATGG 0.550 10 799 --- --- --- --- FURIN 5045 broad.mit.edu 37 15 91424956 91424957 + Frame_Shift_Ins INS - - G rs35641241 byFrequency TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr15:91424956_91424957insG ENST00000268171.3 + 16 2512_2513 c.2233_2234insG c.(2233-2235)gggfs p.G745fs NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 745 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity p.R745L(1) breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CTTTAGTTTTCGGGGGGTGAAG 0.619 8 247 --- --- --- --- MSLNL 401827 broad.mit.edu 37 16 830785 830786 + In_Frame_Ins INS - - CAG TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr16:830785_830786insCAG ENST00000293892.3 - 3 214_215 c.215_216insCTG c.(214-216)cca>cCTGca p.72_73insA MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 0 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 CGGGTAGGTGACGGTGTGCACG 0.589 9 238 --- --- --- --- SRRM2 23524 broad.mit.edu 37 16 2815060 2815061 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr16:2815060_2815061insC ENST00000301740.8 + 11 5080_5081 c.4531_4532insC c.(4531-4533)cccfs p.P1511fs NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1511 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CAAGTGTCTTACCCCCCAGAGA 0.525 7 672 --- --- --- --- EMP2 2013 broad.mit.edu 37 16 10637490 10637491 + Frame_Shift_Ins INS - - A TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr16:10637490_10637491insA ENST00000359543.3 - 3 314_315 c.105_106insT c.(103-108)ttcagafs p.R36fs EMP2_ENST00000536829.1_Frame_Shift_Ins_p.R36fs NM_001424.4 NP_001415.1 P54851 EMP2_HUMAN epithelial membrane protein 2 36 cell proliferation integral to membrane NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 6 CAGACATCTGCAAAAAACTCAT 0.441 7 483 --- --- --- --- CIITA 4261 broad.mit.edu 37 16 10995899 10995900 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr16:10995899_10995900insC ENST00000324288.8 + 7 619_620 c.486_487insC c.(484-489)gaccccfs p.DP162fs CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_3'UTR NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 162 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 TCACAGCTGAGCCCCCCACTGT 0.634 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 13 956 --- --- --- --- NOMO1 23420 broad.mit.edu 37 16 14980694 14980695 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr16:14980694_14980695insC ENST00000287667.7 + 28 3470_3471 c.3299_3300insC c.(3298-3300)tccfs p.S1100fs NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 1100 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 TTCTTCCATTTCCCCCCACTGC 0.475 7 567 --- --- --- --- ACSM2B 348158 broad.mit.edu 37 16 20556547 20556548 + Frame_Shift_Ins INS - - G rs146499503 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr16:20556547_20556548insG ENST00000329697.6 - 10 1380_1381 c.1212_1213insC c.(1210-1215)ccgcacfs p.H405fs ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 405 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CCTTCTGTGCCGGGGGGCAGGA 0.515 8 312 --- --- --- --- DNAH3 55567 broad.mit.edu 37 16 20976720 20976721 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr16:20976720_20976721insC ENST00000261383.3 - 53 8484_8485 c.8485_8486insG c.(8485-8487)atcfs p.I2829fs DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2829 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CTTTTTGGATACCCCCCAGTAA 0.416 7 263 --- --- --- --- TBX6 6911 broad.mit.edu 37 16 30100077 30100078 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr16:30100077_30100078insC ENST00000553607.1 - 4 1397_1398 c.704_705insG c.(703-705)gatfs p.D235fs TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs O95947 TBX6_HUMAN T-box 6 235 anatomical structure morphogenesis|mesoderm development|multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 9 AGGAGGCCATGCCCCCCCAGTG 0.629 9 128 --- --- --- --- ITGAD 3681 broad.mit.edu 37 16 31422532 31422533 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr16:31422532_31422533insG ENST00000389202.2 + 13 1541_1542 c.1492_1493insG c.(1492-1494)gggfs p.G498fs NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 498 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TCCCTTGCCTAGGGGGGTGAGT 0.629 7 928 --- --- --- --- MT4 84560 broad.mit.edu 37 16 56602768 56602769 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr16:56602768_56602769insC ENST00000219162.3 + 3 193_194 c.113_114insC c.(112-114)tccfs p.S38fs NM_032935.2 NP_116324.1 P47944 MT4_HUMAN metallothionein 4 38 cytoplasm copper ion binding|zinc ion binding ovary(1)|upper_aerodigestive_tract(1) 2 TGTCCCTGCTGCCCCCCGGGCT 0.599 19 713 --- --- --- --- KCTD19 146212 broad.mit.edu 37 16 67325657 67325658 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr16:67325657_67325658insG ENST00000304372.5 - 13 2356_2357 c.2301_2302insC c.(2299-2304)cctggtfs p.G768fs NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 768 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CTGCCCACCACGGGGGGGTGAG 0.574 7 71 --- --- --- --- TERF2IP 54386 broad.mit.edu 37 16 75690386 75690388 + In_Frame_Del DEL TCC TCC - TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr16:75690386_75690388delTCC ENST00000300086.4 + 3 1174_1176 c.1077_1079delTCC c.(1075-1080)tac>ta p.YP359del NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 359 negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 CTGATGGATATCCCATTTGGTCC 0.453 17 428 --- --- --- --- PAFAH1B1 5048 broad.mit.edu 37 17 2583499 2583500 + Frame_Shift_Ins INS - - G rs113994201 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr17:2583499_2583500insG ENST00000397195.5 + 10 1495_1496 c.1044_1045insG c.(1042-1047)tcggggfs p.SG348fs PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs|PAFAH1B1_ENST00000397193.3_3'UTR NM_000430.3 NP_000421.1 P43034 LIS1_HUMAN platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 348 Interaction with dynein and dynactin. acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1) 11 TGTTCCATTCTGGGGGGAAGTT 0.401 10 545 --- --- --- --- ALOX12 239 broad.mit.edu 37 17 6903739 6903740 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr17:6903739_6903740insC ENST00000251535.6 + 7 945_946 c.892_893insC c.(892-894)cccfs p.P298fs AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron NM_000697.2 NP_000688.2 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 298 Lipoxygenase. A -> T. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 ATACCTGGCTGCCCCCCTCGTT 0.554 15 1135 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7798764 7798765 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr17:7798764_7798765insC ENST00000380358.4 + 10 1789_1790 c.1788_1789insC c.(1786-1791)ccccccfs p.PP596fs CHD3_ENST00000358181.4_Frame_Shift_Ins_p.PP537fs|CHD3_ENST00000330494.7_Frame_Shift_Ins_p.PP537fs NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 537 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CAGATGTCCCACCCCCCCGTCC 0.574 19 240 --- --- --- --- PHF12 57649 broad.mit.edu 37 17 27244345 27244346 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr17:27244345_27244346insG ENST00000577226.1 - 7 1437_1438 c.1091_1092insC c.(1090-1092)caafs p.Q364fs PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Frame_Shift_Ins_p.Q364fs|PHF12_ENST00000268756.3_Frame_Shift_Ins_p.Q364fs Q96QT6 PHF12_HUMAN PHD finger protein 12 364 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) CACGCCGGTTAGGGGGGTGCTT 0.530 7 216 --- --- --- --- SSH2 85464 broad.mit.edu 37 17 27959374 27959375 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr17:27959374_27959375insG ENST00000269033.3 - 15 2907_2908 c.2756_2757insC c.(2755-2757)cgafs p.R919fs RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 919 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ATGAATGTTCTGGGGGGGCTTC 0.480 33 369 --- --- --- --- SSH2 85464 broad.mit.edu 37 17 27963294 27963295 + Frame_Shift_Ins INS - - G rs35554312 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr17:27963294_27963295insG ENST00000269033.3 - 14 2023_2024 c.1872_1873insC c.(1870-1875)cctgtcfs p.V625fs RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 625 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCAGGGGACATGGGGGGGTCTT 0.470 11 161 --- --- --- --- ACACA 31 broad.mit.edu 37 17 35600370 35600371 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr17:35600370_35600371insG ENST00000353139.5 - 22 3328_3329 c.2847_2848insC c.(2845-2850)ccatgtfs p.C950fs ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 913 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TTCTCCACATTGGGGGGAATGC 0.470 7 506 --- --- --- --- NAGLU 4669 broad.mit.edu 37 17 40690467 40690468 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr17:40690467_40690468insC ENST00000225927.2 + 3 743_744 c.642_643insC c.(640-645)ctccccfs p.LP214fs RP11-400F19.8_ENST00000585572.1_RNA NM_000263.3 NP_000254.2 P54802 ANAG_HUMAN N-acetylglucosaminidase, alpha 214 lysosome alpha-N-acetylglucosaminidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 12 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) ATGGCCCCCTGCCCCCCTCCTG 0.594 7 831 --- --- --- --- GPATCH8 23131 broad.mit.edu 37 17 42476034 42476035 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr17:42476034_42476035insG ENST00000434000.1 - 9 3458_3459 c.3176_3177insC c.(3175-3177)ctcfs p.L1059fs GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.L1137fs Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1137 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TGCCAAGAGATGGGGGGAGCTT 0.554 7 2093 --- --- --- --- MRPL10 124995 broad.mit.edu 37 17 45905873 45905874 + Frame_Shift_Ins INS - - G rs147331240 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr17:45905873_45905874insG ENST00000290208.7 - 2 697_698 c.245_246insC c.(244-246)ccafs p.P82fs MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs|MRPL10_ENST00000351111.2_Frame_Shift_Ins_p.P72fs Q7Z7H8 RM10_HUMAN mitochondrial ribosomal protein L10 72 ribosome biogenesis|translation mitochondrial large ribosomal subunit structural constituent of ribosome endometrium(3)|large_intestine(1)|lung(3)|ovary(1) 8 TTACCTCCTGTGGGGGGCTGGG 0.525 7 253 --- --- --- --- MTMR4 9110 broad.mit.edu 37 17 56590245 56590246 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr17:56590245_56590246insG ENST00000323456.5 - 3 184_185 c.60_61insC c.(58-63)ccaggafs p.G21fs MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 21 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity p.K21fs*20(1) breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACTAGTTCCTTGGGGGGGAACA 0.569 10 352 --- --- --- --- AXIN2 8313 broad.mit.edu 37 17 63532584 63532585 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr17:63532584_63532585insC ENST00000307078.5 - 8 2307_2308 c.1994_1995insG c.(1993-1995)gaafs p.E665fs AXIN2_ENST00000375702.5_Frame_Shift_Ins_p.E600fs NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 665 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 GCCCGCTGTTGCCCCCCCACAG 0.658 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 7 107 --- --- --- --- FAM104A 84923 broad.mit.edu 37 17 71223356 71223357 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr17:71223356_71223357insG ENST00000405159.3 - 2 332_333 c.268_269insC c.(268-270)gacfs p.D90fs FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs NM_001098832.1 NP_001092302.1 Q969W3 F104A_HUMAN family with sequence similarity 104, member A 90 endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 LUSC - Lung squamous cell carcinoma(166;0.197) TCTTTTGGTCTGGGGGGGAAGA 0.416 8 156 --- --- --- --- ZBTB7C 201501 broad.mit.edu 37 18 45566518 45566519 + Frame_Shift_Ins INS - - C rs113275715 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr18:45566518_45566519insC ENST00000588982.1 - 3 1461_1462 c.960_961insG c.(958-963)ggctctfs p.S321fs ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.S321fs A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 321 Pro-rich. intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 GGTCCCAGAGGCCCCCCCGGCA 0.624 17 520 --- --- --- --- ZBTB7C 201501 broad.mit.edu 37 18 45567075 45567076 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr18:45567075_45567076insC ENST00000588982.1 - 3 904_905 c.403_404insG c.(403-405)ggafs p.G135fs ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.G135fs A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 135 Asp-rich.|Glu-rich. intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 gtcatcctcctcccccccgtcc 0.574 7 246 --- --- --- --- ZNF407 55628 broad.mit.edu 37 18 72343478 72343479 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr18:72343478_72343479insC ENST00000299687.5 + 1 503_504 c.503_504insC c.(502-504)tccfs p.S168fs ZNF407_ENST00000582337.1_Frame_Shift_Ins_p.S168fs|ZNF407_ENST00000577538.1_Frame_Shift_Ins_p.S168fs|ZNF407_ENST00000309902.6_Frame_Shift_Ins_p.S168fs NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GAATCTCCTTTCCCCCCGAAAG 0.396 7 175 --- --- --- --- LRG1 116844 broad.mit.edu 37 19 4538452 4538453 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:4538452_4538453insG ENST00000306390.6 - 2 1003_1004 c.543_544insC c.(541-546)ccggctfs p.A182fs CTB-50L17.14_ENST00000586020.1_Intron NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 182 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GCCAGCAGCCCGGGGGGCAGTT 0.619 10 367 --- --- --- --- TUBB4A 10382 broad.mit.edu 37 19 6496087 6496088 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:6496087_6496088insC ENST00000264071.2 - 4 793_794 c.422_423insG c.(421-423)gggfs p.G141fs TUBB4A_ENST00000598006.1_3'UTR|TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Frame_Shift_Ins_p.G141fs P04350 TBB4_HUMAN tubulin, beta 4A class IVa 141 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ACCCCGTGCCACCCCCCAGCGA 0.649 10 225 --- --- --- --- C3 718 broad.mit.edu 37 19 6697480 6697481 + Frame_Shift_Ins INS - - G rs137956083 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:6697480_6697481insG ENST00000245907.6 - 21 2762_2763 c.2670_2671insC c.(2668-2673)ccagtcfs p.V891fs NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 891 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) AACGAGGACTTGGGGGGGATGG 0.574 11 127 --- --- --- --- SH2D3A 10045 broad.mit.edu 37 19 6755179 6755180 + Frame_Shift_Ins INS - - G rs139813452 byFrequency TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:6755179_6755180insG ENST00000245908.6 - 5 912_913 c.643_644insC c.(643-645)gacfs p.D215fs SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs|SH2D3A_ENST00000599563.1_5'UTR NM_005490.2 NP_005481.2 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 215 JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 GGAGGGTGTCCGGGGGGGCTTC 0.653 33 497 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9059376 9059377 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:9059376_9059377insG ENST00000397910.4 - 3 28272_28273 c.28069_28070insC c.(28069-28071)cacfs p.H9357fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9359 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTCCTTGTGAGGGGGGTAGAA 0.510 7 403 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9064309 9064310 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:9064309_9064310insG ENST00000397910.4 - 3 23339_23340 c.23136_23137insC c.(23134-23139)ccctccfs p.S7713fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7715 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAAGGGGAGAGGGGGGGATAT 0.530 9 482 --- --- --- --- ZNF878 729747 broad.mit.edu 37 19 12155708 12155709 + Frame_Shift_Ins INS - - T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:12155708_12155709insT ENST00000602107.1 - 5 647_648 c.648_649insA c.(646-651)aacctafs p.NL216fs CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL169fs|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 CATTCATAGGGTTTTTTTGCAG 0.411 7 468 --- --- --- --- TSHZ3 57616 broad.mit.edu 37 19 31769061 31769062 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:31769061_31769062insC ENST00000240587.4 - 2 1964_1965 c.1637_1638insG c.(1636-1638)gtafs p.V546fs NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 546 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TGCTGGGATAGCCCCCCCAGCT 0.559 16 378 --- --- --- --- TSHZ3 57616 broad.mit.edu 37 19 31769141 31769142 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:31769141_31769142insC ENST00000240587.4 - 2 1884_1885 c.1557_1558insG c.(1555-1560)ggttgafs p.*520fs NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 520 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) AGGATATCAAGCCCCCCCTTGG 0.500 13 588 --- --- --- --- CD22 933 broad.mit.edu 37 19 35832248 35832249 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:35832248_35832249insC ENST00000085219.5 + 8 1576_1577 c.1510_1511insC c.(1510-1512)cccfs p.P504fs CD22_ENST00000419549.2_Frame_Shift_Ins_p.P332fs|CD22_ENST00000341773.6_Frame_Shift_Ins_p.P327fs|CD22_ENST00000270311.6_Frame_Shift_Ins_p.P384fs|CD22_ENST00000594250.1_Frame_Shift_Ins_p.P327fs|CD22_ENST00000544992.2_Frame_Shift_Ins_p.P504fs|CD22_ENST00000536635.2_Frame_Shift_Ins_p.P416fs NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 504 cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CCCTCCAGATGCCCCCCGAGAC 0.619 7 213 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 39008211 39008212 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:39008211_39008212insC ENST00000355481.4 + 66 10029_10030 c.9898_9899insC c.(9898-9900)cccfs p.P3300fs RYR1_ENST00000360985.3_Frame_Shift_Ins_p.P3300fs|RYR1_ENST00000359596.3_Frame_Shift_Ins_p.P3300fs NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3300 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCCCGCCGGCGCCCCCCCACCC 0.658 7 52 --- --- --- --- FCGBP 8857 broad.mit.edu 37 19 40433821 40433822 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:40433821_40433822insG ENST00000221347.6 - 2 454_455 c.447_448insC c.(445-450)ccgcacfs p.H150fs NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 150 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCTGAGGTGCCGGGGGGTGTGA 0.604 7 144 --- --- --- --- C19orf47 126526 broad.mit.edu 37 19 40834398 40834399 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:40834398_40834399insG ENST00000582783.1 - 6 483_484 c.471_472insC c.(469-474)ccggcgfs p.A158fs C19orf47_ENST00000392035.2_Frame_Shift_Ins_p.A91fs NM_001256440.1 NP_001243369.1 Q8N9M1 CS047_HUMAN chromosome 19 open reading frame 47 158 endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Lung(22;0.000636) TCCGGGCGCCTGGGGGGTGTGC 0.614 10 695 --- --- --- --- CCDC97 90324 broad.mit.edu 37 19 41825594 41825595 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:41825594_41825595insC ENST00000269967.3 + 3 740_741 c.618_619insC c.(616-621)caccccfs p.HP206fs NM_052848.1 NP_443080.1 Q96F63 CCD97_HUMAN coiled-coil domain containing 97 206 biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 17 CAACCCACCAGCCCCCCAAGCC 0.649 8 267 --- --- --- --- CEACAM5 1048 broad.mit.edu 37 19 42224865 42224866 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:42224865_42224866insC ENST00000221992.6 + 8 1909_1910 c.1795_1796insC c.(1795-1797)cccfs p.P599fs CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 599 Ig-like 7. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCCCATCATTTCCCCCCCAGAC 0.545 12 289 --- --- --- --- PSG7 5676 broad.mit.edu 37 19 43439519 43439520 + RNA INS - - C rs59911953 by1000genomes TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:43439519_43439520insC ENST00000446844.3 - 0 520 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) AATGACCCCTGCCCCCCAACAC 0.515 10 771 --- --- --- --- CLASRP 11129 broad.mit.edu 37 19 45556128 45556129 + Frame_Shift_Ins INS - - C rs146240710 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:45556128_45556129insC ENST00000544944.2 + 3 969_970 c.277_278insC c.(277-279)cccfs p.P93fs CLASRP_ENST00000221455.3_Frame_Shift_Ins_p.P93fs|CLASRP_ENST00000391953.4_Intron Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 93 mRNA processing|RNA splicing nucleus p.L96fs*17(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 CCCCGACTACACCCCCCCTCTG 0.614 7 147 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935586 47935587 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:47935586_47935587insG ENST00000236877.6 - 9 2621_2622 c.2226_2227insC c.(2224-2229)ccccgafs p.R743fs SLC8A2_ENST00000542837.1_Frame_Shift_Ins_p.R499fs|SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.R206fs NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 743 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CAGTACTCGGTGGGGGGCACAC 0.649 8 293 --- --- --- --- CARD8 22900 broad.mit.edu 37 19 48737669 48737670 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:48737669_48737670insC ENST00000391898.3 - 3 382_383 c.340_341insG c.(340-342)catfs p.H114fs ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs NM_001184900.1 NP_001171829.1 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 0 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 15 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) CCTGGGAATGTCCCCCCCAGAT 0.436 11 195 --- --- --- --- TSKS 60385 broad.mit.edu 37 19 50243063 50243064 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:50243063_50243064insG ENST00000246801.3 - 11 1830_1831 c.1748_1749insC c.(1747-1749)caafs p.Q583fs TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 583 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CCCCCTGTTTTGGGGGGGTTCC 0.545 16 359 --- --- --- --- GPR32 2854 broad.mit.edu 37 19 51274914 51274915 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:51274914_51274915insC ENST00000270590.4 + 1 1194_1195 c.1057_1058insC c.(1057-1059)cccfs p.P353fs NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 353 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CCGTGGCAACGCCCCCCGGGAA 0.525 8 316 --- --- --- --- KLK1 3816 broad.mit.edu 37 19 51326962 51326963 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:51326962_51326963insC ENST00000301420.2 - 1 77_78 c.42_43insG c.(40-45)ggctggfs p.W15fs KLK1_ENST00000448701.2_5'UTR NM_002257.2 NP_002248.1 P06870 KLK1_HUMAN kallikrein 1 15 proteolysis nucleus serine-type endopeptidase activity breast(1)|large_intestine(4)|lung(7)|urinary_tract(1) 13 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCTCACCAGTCCCCCCCAGGG 0.653 12 225 --- --- --- --- ZNF175 7728 broad.mit.edu 37 19 52090436 52090437 + Frame_Shift_Ins INS - - G rs138396190 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:52090436_52090437insG ENST00000262259.2 + 5 1210_1211 c.852_853insG c.(850-855)tgggggfs p.WG284fs ZNF175_ENST00000436511.2_Intron NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 284 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) GTTCTGAATGTGGGGGGAGCTT 0.441 8 413 --- --- --- --- CNOT3 4849 broad.mit.edu 37 19 54649666 54649667 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr19:54649666_54649667insC ENST00000406403.1 + 8 2327_2328 c.724_725insC c.(724-726)cccfs p.P242fs CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.P61fs|CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.P242fs O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 242 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GGTCGCCACCTCCCCTCCCAGC 0.644 8 113 --- --- --- --- NRSN2 80023 broad.mit.edu 37 20 333922 333923 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr20:333922_333923insC ENST00000382291.3 + 4 498_499 c.258_259insC c.(256-261)gtccccfs p.VP86fs NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs NM_024958.2 NP_079234.1 Q9GZP1 NRSN2_HUMAN neurensin 2 86 integral to membrane|plasma membrane|transport vesicle endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 all_cancers(10;0.0834) GCTATGCAGTGCCCCCCAAGCT 0.644 9 321 --- --- --- --- NSFL1C 55968 broad.mit.edu 37 20 1426464 1426465 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr20:1426464_1426465insG ENST00000216879.4 - 8 1663_1664 c.796_797insC c.(796-798)ggtfs p.G266fs NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.G235fs|NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.G155fs NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) 266 chromosome|Golgi stack|nucleus lipid binding|protein binding breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 ACTCAACACCTGGGGGGCAGTG 0.510 7 588 --- --- --- --- CST4 1472 broad.mit.edu 37 20 23667825 23667826 + Frame_Shift_Ins INS - - C rs140501583 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr20:23667825_23667826insC ENST00000217423.3 - 2 311_312 c.241_242insG c.(241-243)gaafs p.E81fs NM_001899.2 NP_001890.1 P01036 CYTS_HUMAN cystatin S 81 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 16 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) GAAGTAATTCACCCCCCCAAAG 0.554 15 255 --- --- --- --- CST1 1469 broad.mit.edu 37 20 23729753 23729754 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr20:23729753_23729754insC ENST00000304749.2 - 2 311_312 c.241_242insG c.(241-243)gaafs p.E81fs CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 81 extracellular region cysteine-type endopeptidase inhibitor activity kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13 Lung NSC(19;0.0676)|all_lung(19;0.148) GAAGTAATTCACCCCCCCAACG 0.554 14 261 --- --- --- --- TM9SF4 9777 broad.mit.edu 37 20 30737490 30737491 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr20:30737490_30737491insC ENST00000217315.5 + 10 1297_1298 c.957_958insC c.(955-960)agccccfs p.SP319fs TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 336 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ACGTCTTCAGGCCCCCCCAGTA 0.604 7 111 --- --- --- --- CNBD2 140894 broad.mit.edu 37 20 34618503 34618504 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr20:34618503_34618504insC ENST00000373973.3 + 12 1837_1838 c.1664_1665insC c.(1663-1665)cccfs p.P555fs CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.P551fs cyclic nucleotide binding domain containing 2 CAGAAATACCTCCCCCCATTGA 0.455 19 908 --- --- --- --- RALGAPB 57148 broad.mit.edu 37 20 37146232 37146233 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr20:37146232_37146233insC ENST00000262879.6 + 8 1419_1420 c.1135_1136insC c.(1135-1137)cccfs p.P379fs RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 379 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity p.H382fs*2(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TGTCAGTACCACCCCCCCACAT 0.446 11 147 --- --- --- --- SLC13A3 64849 broad.mit.edu 37 20 45194969 45194970 + Frame_Shift_Ins INS - - G rs149123701 byFrequency TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr20:45194969_45194970insG ENST00000279027.4 - 11 1410_1411 c.1392_1393insC c.(1390-1395)ccccctfs p.PP464fs SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 464 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity p.P464P(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) ACAGCCAGGGCGGGGGGCACAT 0.604 7 456 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989771 47989772 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr20:47989771_47989772insG ENST00000371741.4 - 2 2491_2492 c.2325_2326insC c.(2323-2328)ccaaagfs p.PK775fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 775 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGGAGGCTTTTGGGGGGGCTGG 0.545 28 708 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989890 47989891 + Frame_Shift_Ins INS - - G rs151175979 by1000genomes TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr20:47989890_47989891insG ENST00000371741.4 - 2 2372_2373 c.2206_2207insC c.(2206-2208)gtcfs p.V736fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 736 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CTCAGGAGACCGGGGGGGTGTC 0.559 11 198 --- --- --- --- SALL4 57167 broad.mit.edu 37 20 50400982 50400983 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr20:50400982_50400983insC ENST00000217086.4 - 4 3094_3095 c.2983_2984insG c.(2983-2985)tccfs p.S995fs SALL4_ENST00000371539.3_Frame_Shift_Ins_p.S218fs|SALL4_ENST00000395997.3_Frame_Shift_Ins_p.S558fs NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 995 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GAGGGTAGGAACCCCCCCACTC 0.559 9 112 --- --- --- --- ZFP64 55734 broad.mit.edu 37 20 50769075 50769076 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr20:50769075_50769076insG ENST00000216923.4 - 6 2004_2005 c.1655_1656insC c.(1654-1656)ccafs p.P552fs ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 552 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 GCGAGGACTGAGGGGGGGCGAT 0.673 13 91 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11059172 11059175 + RNA DEL CTAT CTAT - rs56885467 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr21:11059172_11059175delCTAT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGGGAAATGACTATCTAACATAAA 0.373 5 1 --- --- --- --- KLHL22 84861 broad.mit.edu 37 22 20819244 20819245 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr22:20819244_20819245insG ENST00000328879.4 - 4 1168_1169 c.1012_1013insC c.(1012-1014)catfs p.H338fs KLHL22_ENST00000440659.2_Frame_Shift_Ins_p.H195fs NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 338 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GTTGGACATGCGGGGGGCCAGG 0.574 7 198 --- --- --- --- THOC5 8563 broad.mit.edu 37 22 29925230 29925231 + Splice_Site INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr22:29925230_29925231insG ENST00000490103.1 - 9 970 c.e9-2 THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA NM_003678.4 NP_003669.4 Q13769 THOC5_HUMAN THO complex 5 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ACGTCTTATCTGGGGGGCAAGA 0.535 16 997 --- --- --- --- TMPRSS6 164656 broad.mit.edu 37 22 37499435 37499436 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr22:37499435_37499436insG ENST00000381792.2 - 2 162_163 c.22_23insC c.(22-24)ggtfs p.G8fs TMPRSS6_ENST00000406725.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000346753.3_Frame_Shift_Ins_p.G17fs Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 17 angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 GCCAGCCACCTGGGGGGCCTCG 0.658 7 641 --- --- --- --- DDX17 10521 broad.mit.edu 37 22 38895454 38895455 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr22:38895454_38895455insC ENST00000396821.3 - 3 587_588 c.488_489insG c.(487-489)ggafs p.G163fs DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 84 Helicase ATP-binding. RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity p.G163fs*20(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) GACAAACATCTCCCCCCCTCAC 0.381 9 185 --- --- --- --- SREBF2 6721 broad.mit.edu 37 22 42271636 42271637 + Frame_Shift_Ins INS - - C rs79727196 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr22:42271636_42271637insC ENST00000361204.4 + 7 1460_1461 c.1294_1295insC c.(1294-1296)cccfs p.P432fs NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 432 Interaction with LMNA (By similarity). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CCTTCTGATGTCCCCCCCAGCC 0.520 7 242 --- --- --- --- DHRSX 207063 broad.mit.edu 37 X 2343335 2343336 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrX:2343335_2343336insG ENST00000334651.5 - 2 171_172 c.119_120insC c.(118-120)ccgfs p.P40fs NM_145177.2 NP_660160.2 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 40 binding|oxidoreductase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1) 16 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) GGTCAGGTCGTGGGGGGAAAAC 0.455 9 517 --- --- --- --- MID1 4281 broad.mit.edu 37 X 10417613 10417614 + Frame_Shift_Ins INS - - G rs1802191 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrX:10417613_10417614insG ENST00000317552.4 - 10 2198_2199 c.1798_1799insC c.(1798-1800)cctfs p.P600fs MID1_ENST00000380787.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000453318.2_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380779.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380780.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380785.1_Frame_Shift_Ins_p.P600fs NM_000381.3|NM_033289.1 NP_000372.1|NP_150631.1 O15344 TRI18_HUMAN midline 1 (Opitz/BBB syndrome) 600 B30.2/SPRY. microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 26 GCGCCGGAGGTGGGGGGCAGGC 0.540 13 1152 --- --- --- --- PRRG1 5638 broad.mit.edu 37 X 37312610 37312611 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrX:37312610_37312611insC ENST00000542554.1 + 5 665_666 c.393_394insC c.(391-396)ccccccfs p.PP131fs PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.PP131fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.PP131fs NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 131 Poly-Pro. extracellular region|integral to plasma membrane calcium ion binding p.P135fs*3(1)|p.P134fs*19(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 TTATCACCCCACCCCCCCCACC 0.485 8 154 --- --- --- --- SSX9 280660 broad.mit.edu 37 X 48159107 48159108 + Frame_Shift_Ins INS - - G rs41305745 by1000genomes TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrX:48159107_48159108insG ENST00000376909.1 - 6 487_488 c.425_426insC c.(424-426)cggfs p.R142fs SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 8 TTGGTTTTCCCGGGGGGCACAG 0.490 8 337 --- --- --- --- SSX3 10214 broad.mit.edu 37 X 48207024 48207025 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrX:48207024_48207025insC ENST00000298396.2 - 7 533_534 c.481_482insG c.(481-483)acafs p.T161fs SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 CCAGGCATGTTCCCCCCTTTTG 0.480 14 675 --- --- --- --- SSX3 10214 broad.mit.edu 37 X 48209462 48209463 + Frame_Shift_Ins INS - - G rs6651589 byFrequency TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrX:48209462_48209463insG ENST00000298396.2 - 6 477_478 c.425_426insC c.(424-426)cggfs p.R142fs SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs|SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding p.P142Q(2) endometrium(3)|large_intestine(1)|lung(9) 13 TTGGTTTTCCCGGGGGGCACAG 0.495 10 360 --- --- --- --- TFE3 7030 broad.mit.edu 37 X 48887951 48887952 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrX:48887951_48887952insC ENST00000315869.7 - 10 1704_1705 c.1445_1446insG c.(1444-1446)gccfs p.A482fs TFE3_ENST00000493583.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 482 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 TCTGGGCAGGTCCCCCCCCTAC 0.649 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 24 290 --- --- --- --- NOX1 27035 broad.mit.edu 37 X 100117691 100117692 + Frame_Shift_Ins INS - - C rs145552525 byFrequency TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrX:100117691_100117692insC ENST00000372966.3 - 5 660_661 c.455_456insG c.(454-456)gtcfs p.V152fs NOX1_ENST00000217885.5_Frame_Shift_Ins_p.V152fs|NOX1_ENST00000372964.1_Frame_Shift_Ins_p.V152fs|NOX1_ENST00000372960.4_Frame_Shift_Ins_p.V115fs NM_007052.4|NM_013955.2 NP_008983.2|NP_039249.1 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 152 Ferric oxidoreductase. angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 TTAGCCAAGAACCCCCCTTTTT 0.500 7 593 --- --- --- --- ZNF449 203523 broad.mit.edu 37 X 134494267 134494268 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrX:134494267_134494268insC ENST00000339249.4 + 5 963_964 c.823_824insC c.(823-825)cccfs p.P275fs NM_152695.5 NP_689908.3 Q6P9G9 ZN449_HUMAN zinc finger protein 449 275 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TCAATGGGAAACCCCCCCAGAG 0.436 7 141 --- --- --- --- MAP7D3 79649 broad.mit.edu 37 X 135314193 135314194 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 05cc3865-125d-4c09-b63a-b177ff676e78 g.chrX:135314193_135314194insG ENST00000316077.9 - 8 1142_1143 c.922_923insC c.(922-924)ggtfs p.G308fs MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 308 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) CACATTCACCTGGGGGGGTGCA 0.535 11 226 --- --- --- --- SCN1A 6323 broad.mit.edu 37 2 166903319 166903321 + In_Frame_Del DEL CTG CTG - TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr2:166903319_166903321delCTG ENST00000423058.2 - 9 1353_1355 c.1336_1338delCAG c.(1336-1338)del p.Q446del SCN1A_ENST00000409050.1_In_Frame_Del_p.Q446del|SCN1A_ENST00000375405.3_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595647.1_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 446 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) GTTCAATCATCTGCTGAAATTCG 0.458 45 42 --- --- --- --- FIP1L1 81608 broad.mit.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr4:54319248_54319249delAG ENST00000337488.6 + 16 1641_1642 c.1447_1448delAG c.(1447-1449)afs p.R483fs FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000507166.1_Intron NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 483 Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3. mRNA processing nucleus RNA binding p.R487fs*3(2) large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) agaACGCACCAGAGAGAGAGAG 0.470 T PDGFRA idiopathic hypereosinophilic syndrome 8 167 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - rs11277659 TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr7:131241030_131241035delGGCGAC ENST00000541194.1 - 1 341_346 c.84_89delGTCGCC c.(82-90)ccc>cc p.PSP28del PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 4 4 --- --- --- --- UBC 7316 broad.mit.edu 37 12 125398295 125398296 + Frame_Shift_Del DEL AG AG - TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr12:125398295_125398296delAG ENST00000536769.1 - 1 1598_1599 c.22_23delCT c.(22-24)gfs p.L8fs UBC_ENST00000536661.1_5'UTR|UBC_ENST00000339647.5_Frame_Shift_Del_p.L8fs|UBC_ENST00000538617.1_Frame_Shift_Del_p.L8fs|UBC_ENST00000546120.1_Frame_Shift_Del_p.L8fs P0CG48 UBC_HUMAN ubiquitin C 8 Ubiquitin-like 1. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CTTACCAGTCAGAGTCTTCACG 0.450 7 352 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320135 90320146 + In_Frame_Del DEL GGGCAGGGGCAG GGGCAGGGGCAG - rs56192595 by1000genomes TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr15:90320135_90320146delGGGCAGGGGCAG ENST00000341735.3 + 1 547_558 c.547_558delGGGCAGGGGCAG c.(547-558)del p.GQGQ199del MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 199 13 X 2 AA tandem repeats of G-Q. Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) gcaggggcaagggcaggggcaggggcaggggc 0.783 2 4 --- --- --- --- CCDC144B 284047 broad.mit.edu 37 17 18498497 18498498 + RNA INS - - A rs72195768 TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr17:18498497_18498498insA ENST00000442583.1 - 0 749 NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 CTGCAGGCCTGAAAAAAAAAAA 0.243 2 4 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27620806 27620808 + In_Frame_Del DEL TTC TTC - TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr17:27620806_27620808delTTC ENST00000225388.4 - 1 328_330 c.270_272delGAA c.(268-273)aaa>aa p.KK90del NUFIP2_ENST00000579665.1_In_Frame_Del_p.KK90del NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 90 nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) caGACCTGTTTTCTTCTTCGGCG 0.645 9 260 --- --- --- --- SERPINB3 6317 broad.mit.edu 37 18 61324536 61324537 + Frame_Shift_Ins INS - - T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr18:61324536_61324537insT ENST00000283752.5 - 6 722_723 c.579_580insA c.(577-582)gaatacfs p.Y194fs SERPINB3_ENST00000332821.8_Frame_Shift_Ins_p.Y194fs|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 194 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TCTTTAGTATCTTCTTTATTAA 0.292 8 167 --- --- --- --- ADNP2 22850 broad.mit.edu 37 18 77895551 77895552 + Frame_Shift_Ins INS - - T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 05cc3865-125d-4c09-b63a-b177ff676e78 g.chr18:77895551_77895552insT ENST00000262198.4 + 4 2710_2711 c.2255_2256insT c.(2254-2256)taafs p.*752fs NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 752 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) TGTCTGTCTTGTAAGTGCTTGG 0.475 14 344 --- --- --- --- SSU72 29101 broad.mit.edu 37 1 1500119 1500120 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:1500119_1500120insG ENST00000359060.4 - 2 283_284 c.257_258insC c.(256-258)ctgfs p.L86fs SSU72_ENST00000291386.3_Intron Q9NP77 SSU72_HUMAN SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) 0 mRNA processing cytoplasm|nucleus phosphoprotein phosphatase activity large_intestine(2)|lung(5) 7 all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GAGGACCACACGGGGGGTTTTT 0.505 18 1797 --- --- --- --- ERRFI1 54206 broad.mit.edu 37 1 8073803 8073804 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:8073803_8073804insG ENST00000377482.5 - 4 1078_1079 c.855_856insC c.(853-858)ccgagtfs p.S286fs ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR NM_018948.3 NP_061821.1 Q9UJM3 ERRFI_HUMAN ERBB receptor feedback inhibitor 1 286 lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis cytoplasm|extrinsic to internal side of plasma membrane|nucleus protein kinase binding|Rho GTPase activator activity breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2) 16 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) ATGGGAACTCTGGGGGGAACCT 0.475 8 323 --- --- --- --- ERRFI1 54206 broad.mit.edu 37 1 8074377 8074378 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:8074377_8074378insG ENST00000377482.5 - 4 504_505 c.281_282insC c.(280-282)cctfs p.P94fs ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_Frame_Shift_Ins_p.F69fs|ERRFI1_ENST00000467067.1_3'UTR NM_018948.3 NP_061821.1 Q9UJM3 ERRFI_HUMAN ERBB receptor feedback inhibitor 1 94 lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis cytoplasm|extrinsic to internal side of plasma membrane|nucleus protein kinase binding|Rho GTPase activator activity breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2) 16 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) GAATAAGAAGAGGGGGCAAGCT 0.460 7 2194 --- --- --- --- DAB1 1600 broad.mit.edu 37 1 57491653 57491654 + Splice_Site INS - - G rs138352976 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:57491653_57491654insG ENST00000371236.2 - 10 1049_1050 c.e10+1 DAB1_ENST00000414851.2_Splice_Site|DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000371231.1_Splice_Site|DAB1_ENST00000439789.2_Splice_Site|DAB1_ENST00000371234.4_Splice_Site|DAB1_ENST00000485760.1_Splice_Site O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) cell differentiation|nervous system development 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 TGCATACTTACGGGGGGAGAGG 0.465 9 511 --- --- --- --- LOC149351 149351 broad.mit.edu 37 1 91252142 91252143 + RNA DEL AG AG - TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:91252142_91252143delAG ENST00000435649.2 - 0 390 ttcaagaggcagagagagagag 0.446 2 4 --- --- --- --- KIF21B 23046 broad.mit.edu 37 1 200956270 200956271 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:200956270_200956271insG ENST00000332129.2 - 25 3783_3784 c.3467_3468insC c.(3466-3468)cctfs p.P1156fs KIF21B_ENST00000422435.2_Frame_Shift_Ins_p.P1156fs|KIF21B_ENST00000360529.5_Frame_Shift_Ins_p.P1156fs|KIF21B_ENST00000461742.2_Frame_Shift_Ins_p.P1156fs NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1156 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 AGATATCCAGTGGGGGGCCCAG 0.559 40 1919 --- --- --- --- PAPOLG 64895 broad.mit.edu 37 2 61021134 61021135 + Frame_Shift_Ins INS - - C rs140373990 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr2:61021134_61021135insC ENST00000238714.3 + 19 2046_2047 c.1797_1798insC c.(1795-1800)tcccccfs p.SP599fs NM_022894.3 NP_075045.2 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma 599 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) AAACTGTATCACCCCCCACTGT 0.401 8 210 --- --- --- --- SCN1A 6323 broad.mit.edu 37 2 166903319 166903321 + In_Frame_Del DEL CTG CTG - TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr2:166903319_166903321delCTG ENST00000423058.2 - 9 1353_1355 c.1336_1338delCAG c.(1336-1338)del p.Q446del SCN1A_ENST00000409050.1_In_Frame_Del_p.Q446del|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_In_Frame_Del_p.Q446del|SCN1A_ENST00000303395.4_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595268.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 446 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) GTTCAATCATCTGCTGAAATTCG 0.458 45 69 --- --- --- --- ZFYVE20 64145 broad.mit.edu 37 3 15115298 15115299 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:15115298_15115299insC ENST00000253699.3 - 14 2958_2959 c.2345_2346insG c.(2344-2346)gacfs p.D782fs ZFYVE20_ENST00000476527.2_Frame_Shift_Ins_p.D782fs NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 782 Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 GTCAGTCAGTGCCCCCCTTCTG 0.624 8 385 --- --- --- --- TRANK1 9881 broad.mit.edu 37 3 36876345 36876345 + Frame_Shift_Del DEL G G - TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:36876345delG ENST00000429976.2 - 20 5686 c.5439delC c.(5437-5439)ttfs p.F1813fs TRANK1_ENST00000428977.2_Frame_Shift_Del_p.F1263fs|TRANK1_ENST00000301807.6_Frame_Shift_Del_p.F1263fs O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1813 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CAAAGCATCTGAAAGCGTCTT 0.388 25 95 --- --- --- --- TF 7018 broad.mit.edu 37 3 133476713 133476714 + Frame_Shift_Ins INS - - C rs148358704 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr3:133476713_133476714insC ENST00000402696.3 + 8 1456_1457 c.971_972insC c.(970-972)gccfs p.A324fs TF_ENST00000264998.3_Frame_Shift_Ins_p.A197fs NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 324 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) TTTTTAAAAGTCCCCCCCAGGA 0.485 7 174 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 31995791 31995797 + Frame_Shift_Del DEL TCACTCA TCACTCA - TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr5:31995791_31995797delTCACTCA ENST00000438447.1 + 4 1476_1482 c.1088_1094delTCACTCA c.(1087-1095)gafs p.VTQ363fs PDZD2_ENST00000282493.3_Frame_Shift_Del_p.VTQ363fs O15018 PDZD2_HUMAN PDZ domain containing 2 363 PDZ 2. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GCTATCGTTGTCACTCAAGTGAAGGAA 0.570 134 187 --- --- --- --- SLC6A7 6534 broad.mit.edu 37 5 149580754 149580755 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr5:149580754_149580755insC ENST00000230671.2 + 6 1197_1198 c.826_827insC c.(826-828)cccfs p.P276fs SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.P276fs NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 276 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) GTTCTATCTCACCCCCCAGTTC 0.634 9 213 --- --- --- --- CPA1 1357 broad.mit.edu 37 7 130023239 130023240 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr7:130023239_130023240insG ENST00000011292.3 + 5 641_642 c.491_492insG c.(490-492)aggfs p.R164fs CPA1_ENST00000484324.1_Frame_Shift_Ins_p.R76fs NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 164 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) CAGTTCAGCACGGGGGGCAGTA 0.614 8 215 --- --- --- --- KDM7A 80853 broad.mit.edu 37 7 139820279 139820280 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr7:139820279_139820280insC ENST00000397560.2 - 8 1198_1199 c.1101_1102insG c.(1099-1104)ggacttfs p.L368fs JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.L368fs NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 368 JmjC. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TGCAGGAAGTTCCCCCCAAAAG 0.356 8 227 --- --- --- --- BNC2 54796 broad.mit.edu 37 9 16436374 16436375 + Frame_Shift_Ins INS - - G rs116528562 byFrequency TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr9:16436374_16436375insG ENST00000380672.4 - 6 1874_1875 c.1817_1818insC c.(1816-1818)cccfs p.P606fs BNC2_ENST00000380666.2_Frame_Shift_Ins_p.P606fs|BNC2_ENST00000545497.1_Frame_Shift_Ins_p.P511fs|BNC2_ENST00000380667.2_Frame_Shift_Ins_p.P539fs NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 606 Pro-rich. 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) CAGAGGGTGGCGGGGGGTGCTG 0.564 11 380 --- --- --- --- ZNF462 58499 broad.mit.edu 37 9 109691601 109691602 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr9:109691601_109691602insG ENST00000277225.5 + 3 5697_5698 c.5408_5409insG c.(5407-5409)tggfs p.W1803fs ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs Q96JM2 ZN462_HUMAN zinc finger protein 462 1803 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 GCCAGCAAGTTGGGGGGCTACT 0.550 8 173 --- --- --- --- SEC16A 9919 broad.mit.edu 37 9 139345822 139345823 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr9:139345822_139345823insG ENST00000313050.7 - 21 6270_6271 c.6197_6198insC c.(6196-6198)cggfs p.R2066fs SEC16A_ENST00000371706.3_Frame_Shift_Ins_p.R1888fs|SEC16A_ENST00000431893.2_Frame_Shift_Ins_p.R1888fs|SEC16A_ENST00000290037.6_Frame_Shift_Ins_p.R1888fs NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1888 Pro-rich.|Required for interaction with SEC23A. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GATCCCACCCTGGGGGGGCCTC 0.629 7 32 --- --- --- --- DLG2 1740 broad.mit.edu 37 11 84027990 84027991 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr11:84027990_84027991insC ENST00000280241.8 - 1 197_198 c.198_199insG c.(196-201)ggccagfs p.Q67fs DLG2_ENST00000398309.2_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398301.2_Frame_Shift_Ins_p.Q67fs|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376104.2_Intron NM_001206769.1 NP_001193698.1 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TTGAAGCTGGACCCCCCGGTCC 0.609 8 392 --- --- --- --- SRSF8 10929 broad.mit.edu 37 11 94801196 94801197 + RNA INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr11:94801196_94801197insC ENST00000529911.1 + 0 836_837 NM_032102.3 NP_115285.1 Q9BRL6 SRSF8_HUMAN serine/arginine-rich splicing factor 8 mRNA processing|RNA splicing nucleus nucleotide binding|RNA binding GATCCAAGAGGCCCCCCAAGTC 0.535 7 97 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6701671 6701672 + Frame_Shift_Ins INS - - T TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr12:6701671_6701672insT ENST00000309577.6 - 19 2998_2999 c.2835_2836insA c.(2833-2838)aatgcafs p.NA945fs CHD4_ENST00000544484.1_Frame_Shift_Ins_p.NA942fs|CHD4_ENST00000544040.1_Frame_Shift_Ins_p.NA938fs|CHD4_ENST00000357008.2_Frame_Shift_Ins_p.NA945fs Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 945 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ATGTCATGCAGTTTTTTTATCT 0.460 7 695 --- --- --- --- MFSD5 84975 broad.mit.edu 37 12 53647283 53647284 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr12:53647283_53647284insG ENST00000534842.1 + 2 1132_1133 c.985_986insG c.(985-987)gggfs p.G329fs MFSD5_ENST00000329548.4_Frame_Shift_Ins_p.G222fs NM_001170790.1 NP_001164261.1 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 5 222 transport integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1) 16 CCTTCGAAACTGGGGGGAGAAC 0.653 8 179 --- --- --- --- REC8 9985 broad.mit.edu 37 14 24642563 24642564 + Frame_Shift_Ins INS - - T rs148175635 by1000genomes TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr14:24642563_24642564insT ENST00000311457.3 + 6 1004_1005 c.405_406insT c.(403-408)ccttttfs p.PF135fs REC8_ENST00000559919.1_Frame_Shift_Ins_p.PF135fs O95072 REC8_HUMAN REC8 meiotic recombination protein 135 mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(265;0.00839) CTCCAGATCCCTTTTTTGGGAT 0.530 8 470 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr14:73572607_73572608delAG ENST00000261973.7 + 11 1480_1481 c.1195_1196delAG c.(1195-1197)afs p.R399fs RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 399 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) agagcgggaaagagagagagag 0.446 7 107 --- --- --- --- THBS1 7057 broad.mit.edu 37 15 39881488 39881489 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr15:39881488_39881489insC ENST00000260356.5 + 12 2024_2025 c.1859_1860insC c.(1858-1860)tccfs p.S620fs NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 620 EGF-like 2; calcium-binding (Potential). activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) TGCCTGCCCTGCCCCCCACGCT 0.569 8 594 --- --- --- --- GOLGA6C 653641 broad.mit.edu 37 15 75562488 75562489 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr15:75562488_75562489insC ENST00000300576.5 + 18 2030_2031 c.2030_2031insC c.(2029-2031)accfs p.T677fs NM_001164404.1 NP_001157876.1 A6NDK9 GOG6C_HUMAN golgin A6 family, member C 677 ovary(1) 1 CCCCATGACAACCCCCCGGTAC 0.604 7 307 --- --- --- --- FURIN 5045 broad.mit.edu 37 15 91424956 91424957 + Frame_Shift_Ins INS - - G rs35641241 byFrequency TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr15:91424956_91424957insG ENST00000268171.3 + 16 2512_2513 c.2233_2234insG c.(2233-2235)gggfs p.G745fs NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 745 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity p.R745L(1) breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CTTTAGTTTTCGGGGGGTGAAG 0.619 8 247 --- --- --- --- MSLNL 401827 broad.mit.edu 37 16 830785 830786 + In_Frame_Ins INS - - CAG TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr16:830785_830786insCAG ENST00000293892.3 - 3 214_215 c.215_216insCTG c.(214-216)cca>cCTGca p.72_73insA MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 0 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 CGGGTAGGTGACGGTGTGCACG 0.589 9 238 --- --- --- --- CIITA 4261 broad.mit.edu 37 16 10995899 10995900 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr16:10995899_10995900insC ENST00000324288.8 + 7 619_620 c.486_487insC c.(484-489)gaccccfs p.DP162fs CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_3'UTR NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 162 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 TCACAGCTGAGCCCCCCACTGT 0.634 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 13 956 --- --- --- --- PRRT2 112476 broad.mit.edu 37 16 29825015 29825016 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr16:29825015_29825016insC ENST00000300797.6 + 2 814_815 c.640_641insC c.(640-642)cccfs p.P214fs PRRT2_ENST00000567659.1_Frame_Shift_Ins_p.P214fs|PRRT2_ENST00000567551.1_3'UTR|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000358758.7_Frame_Shift_Ins_p.P214fs Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 214 Pro-rich. A -> AP (in Ref. 3; CAD38881). response to biotic stimulus integral to membrane p.R217fs*12(1)|p.A214P(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 8 AGCCAATGGGGCCCCCCCCCGA 0.653 3 5 --- --- --- --- PLD2 5338 broad.mit.edu 37 17 4719138 4719139 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr17:4719138_4719139insG ENST00000263088.6 + 14 1495_1496 c.1364_1365insG c.(1363-1365)cggfs p.R455fs PLD2_ENST00000572940.1_Frame_Shift_Ins_p.R455fs NM_001243108.1|NM_002663.4 NP_001230037.1|NP_002654.3 O14939 PLD2_HUMAN phospholipase D2 455 Catalytic.|PLD phosphodiesterase 1. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) GTAGCATTCCTGGGGGGACTGG 0.594 OREG0024105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 542 --- --- --- --- GPATCH8 23131 broad.mit.edu 37 17 42476034 42476035 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr17:42476034_42476035insG ENST00000434000.1 - 9 3458_3459 c.3176_3177insC c.(3175-3177)ctcfs p.L1059fs GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.L1137fs Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1137 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TGCCAAGAGATGGGGGGAGCTT 0.554 7 2093 --- --- --- --- MRPL10 124995 broad.mit.edu 37 17 45905873 45905874 + Frame_Shift_Ins INS - - G rs147331240 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr17:45905873_45905874insG ENST00000290208.7 - 2 697_698 c.245_246insC c.(244-246)ccafs p.P82fs MRPL10_ENST00000351111.2_Frame_Shift_Ins_p.P72fs|MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs Q7Z7H8 RM10_HUMAN mitochondrial ribosomal protein L10 72 ribosome biogenesis|translation mitochondrial large ribosomal subunit structural constituent of ribosome endometrium(3)|large_intestine(1)|lung(3)|ovary(1) 8 TTACCTCCTGTGGGGGGCTGGG 0.525 7 253 --- --- --- --- MRPL38 64978 broad.mit.edu 37 17 73895694 73895695 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr17:73895694_73895695insG ENST00000309352.3 - 7 1308_1309 c.771_772insC c.(769-774)cctcccfs p.P258fs RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_Frame_Shift_Ins_p.P74fs NM_032478.3 NP_115867.2 Q96DV4 RM38_HUMAN mitochondrial ribosomal protein L38 258 actin cytoskeleton|mitochondrion|ribosome ovary(1)|pancreas(1)|prostate(2)|skin(1) 5 all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154) CGGGCAGGGAAGGGGGGGAGGT 0.614 3 5 --- --- --- --- ZBTB7C 201501 broad.mit.edu 37 18 45566518 45566519 + Frame_Shift_Ins INS - - C rs113275715 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr18:45566518_45566519insC ENST00000588982.1 - 3 1461_1462 c.960_961insG c.(958-963)ggctctfs p.S321fs ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.S321fs A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 321 Pro-rich. intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 GGTCCCAGAGGCCCCCCCGGCA 0.624 17 520 --- --- --- --- ZBTB7C 201501 broad.mit.edu 37 18 45567075 45567076 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr18:45567075_45567076insC ENST00000588982.1 - 3 904_905 c.403_404insG c.(403-405)ggafs p.G135fs ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.G135fs A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 135 Asp-rich.|Glu-rich. intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 gtcatcctcctcccccccgtcc 0.574 7 246 --- --- --- --- ECSIT 51295 broad.mit.edu 37 19 11618820 11618821 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr19:11618820_11618821insG ENST00000270517.7 - 5 916_917 c.781_782insC c.(781-783)gccfs p.A261fs ECSIT_ENST00000417981.2_Frame_Shift_Ins_p.A47fs|ECSIT_ENST00000591104.1_Frame_Shift_Ins_p.A261fs|ECSIT_ENST00000252440.7_Frame_Shift_Ins_p.A261fs|ECSIT_ENST00000588998.1_Frame_Shift_Ins_p.A47fs|ECSIT_ENST00000592312.1_Frame_Shift_Ins_p.A145fs|ECSIT_ENST00000591352.1_5'UTR NM_016581.4 NP_057665.2 Q9BQ95 ECSIT_HUMAN ECSIT signalling integrator 261 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 GATGTGGGGCTGGGGGGGATCT 0.584 7 202 --- --- --- --- MPV17L2 84769 broad.mit.edu 37 19 18305818 18305819 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr19:18305818_18305819insC ENST00000599612.2 + 4 586_587 c.486_487insC c.(484-489)gtccccfs p.VP162fs MPV17L2_ENST00000534474.2_Frame_Shift_Ins_p.P137fs NM_032683.2 NP_116072.2 Q567V2 M17L2_HUMAN MPV17 mitochondrial membrane protein-like 2 162 integral to membrane large_intestine(1)|lung(2)|urinary_tract(1) 4 TCCTCTTCGTGCCCCCCCAATT 0.653 15 259 --- --- --- --- CD22 933 broad.mit.edu 37 19 35832248 35832249 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr19:35832248_35832249insC ENST00000085219.5 + 8 1576_1577 c.1510_1511insC c.(1510-1512)cccfs p.P504fs CD22_ENST00000536635.2_Frame_Shift_Ins_p.P416fs|CD22_ENST00000544992.2_Frame_Shift_Ins_p.P504fs|CD22_ENST00000419549.2_Frame_Shift_Ins_p.P332fs|CD22_ENST00000270311.6_Frame_Shift_Ins_p.P384fs|CD22_ENST00000341773.6_Frame_Shift_Ins_p.P327fs|CD22_ENST00000594250.1_Frame_Shift_Ins_p.P327fs NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 504 cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CCCTCCAGATGCCCCCCGAGAC 0.619 7 213 --- --- --- --- NSFL1C 55968 broad.mit.edu 37 20 1426464 1426465 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr20:1426464_1426465insG ENST00000216879.4 - 8 1663_1664 c.796_797insC c.(796-798)ggtfs p.G266fs NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.G235fs|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.G155fs|NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000461211.1_5'UTR NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) 266 chromosome|Golgi stack|nucleus lipid binding|protein binding breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 ACTCAACACCTGGGGGGCAGTG 0.510 7 588 --- --- --- --- MID1 4281 broad.mit.edu 37 X 10417613 10417614 + Frame_Shift_Ins INS - - G rs1802191 TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chrX:10417613_10417614insG ENST00000317552.4 - 10 2198_2199 c.1798_1799insC c.(1798-1800)cctfs p.P600fs MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380785.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380780.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000453318.2_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380787.1_Frame_Shift_Ins_p.P600fs|MID1_ENST00000380779.1_Frame_Shift_Ins_p.P600fs NM_000381.3|NM_033289.1 NP_000372.1|NP_150631.1 O15344 TRI18_HUMAN midline 1 (Opitz/BBB syndrome) 600 B30.2/SPRY. microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 26 GCGCCGGAGGTGGGGGGCAGGC 0.540 13 1152 --- --- --- --- NOX1 27035 broad.mit.edu 37 X 100117691 100117692 + Frame_Shift_Ins INS - - C rs145552525 byFrequency TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chrX:100117691_100117692insC ENST00000372966.3 - 5 660_661 c.455_456insG c.(454-456)gtcfs p.V152fs NOX1_ENST00000217885.5_Frame_Shift_Ins_p.V152fs|NOX1_ENST00000372960.4_Frame_Shift_Ins_p.V115fs|NOX1_ENST00000372964.1_Frame_Shift_Ins_p.V152fs NM_007052.4|NM_013955.2 NP_008983.2|NP_039249.1 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 152 Ferric oxidoreductase. angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 TTAGCCAAGAACCCCCCTTTTT 0.500 7 593 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150842424 150842425 + Frame_Shift_Ins INS - - C TCGA-AS-3777-01A-01W-0886-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 792ef39b-84e5-490b-b594-4ad5adcf90ae 4d253e9a-9140-4429-b6ee-974f840c42cb g.chrX:150842424_150842425insC ENST00000370357.4 + 15 2186_2187 c.1941_1942insC c.(1939-1944)ggccccfs p.GP647fs NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 647 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTATCAAGGGCCCCCCGTGAA 0.455 7 238 --- --- --- --- SKI 6497 broad.mit.edu 37 1 2235396 2235397 + Frame_Shift_Ins INS - - G rs150033567 byFrequency TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr1:2235396_2235397insG ENST00000378536.4 + 4 1401_1402 c.1329_1330insG c.(1327-1332)ccagccfs p.A444fs NM_003036.3 NP_003027.1 P12755 SKI_HUMAN v-ski avian sarcoma viral oncogene homolog 444 anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|PML body|transcription factor complex|transcriptional repressor complex histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1) 10 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) CCCGGGCCCCCGAGCCTCTCGC 0.718 7 20 --- --- --- --- SCN1A 6323 broad.mit.edu 37 2 166903319 166903321 + In_Frame_Del DEL CTG CTG - TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr2:166903319_166903321delCTG ENST00000423058.2 - 9 1353_1355 c.1336_1338delCAG c.(1336-1338)del p.Q446del SCN1A_ENST00000375405.3_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_In_Frame_Del_p.Q446del|SCN1A_ENST00000303395.4_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595268.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 446 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) GTTCAATCATCTGCTGAAATTCG 0.458 45 42 --- --- --- --- FIP1L1 81608 broad.mit.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr4:54319248_54319249delAG ENST00000337488.6 + 16 1641_1642 c.1447_1448delAG c.(1447-1449)afs p.R483fs FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 483 Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3. mRNA processing nucleus RNA binding p.R487fs*3(2) large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) agaACGCACCAGAGAGAGAGAG 0.470 T PDGFRA idiopathic hypereosinophilic syndrome 8 167 --- --- --- --- UTP3 57050 broad.mit.edu 37 4 71554620 71554622 + In_Frame_Del DEL GAG GAG - TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr4:71554620_71554622delGAG ENST00000254803.2 + 1 425_427 c.226_228delGAG c.(226-228)del p.E81del NM_020368.2 NP_065101.1 Q9NQZ2 SAS10_HUMAN UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 81 Glu-rich. brain development|chromatin modification|gene silencing nucleolus endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4) 18 Lung(101;0.235) ggaggatggcgaggaggaggagg 0.567 7 102 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131195806 131195807 + Frame_Shift_Ins INS - - G TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr7:131195806_131195807insG ENST00000541194.1 - 2 749_750 c.492_493insC c.(490-495)aggccafs p.RP164fs PODXL_ENST00000322985.9_Frame_Shift_Ins_p.RP162fs|PODXL_ENST00000537928.1_Frame_Shift_Ins_p.RP162fs|PODXL_ENST00000378555.3_Frame_Shift_Ins_p.RP162fs NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 162 Thr-rich. cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ACACTGTGGCTGCTTTTCCCCC 0.535 7 767 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 10 20 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 8 24 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 76082490 76082491 + RNA INS - - T rs141632958 TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr12:76082490_76082491insT ENST00000552856.1 - 0 401 cattctTTTTCTTTTTTTTTTT 0.361 7 11 --- --- --- --- UBC 7316 broad.mit.edu 37 12 125398295 125398296 + Frame_Shift_Del DEL AG AG - TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr12:125398295_125398296delAG ENST00000536769.1 - 1 1598_1599 c.22_23delCT c.(22-24)gfs p.L8fs UBC_ENST00000546120.1_Frame_Shift_Del_p.L8fs|UBC_ENST00000339647.5_Frame_Shift_Del_p.L8fs|UBC_ENST00000538617.1_Frame_Shift_Del_p.L8fs|UBC_ENST00000536661.1_5'UTR P0CG48 UBC_HUMAN ubiquitin C 8 Ubiquitin-like 1. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CTTACCAGTCAGAGTCTTCACG 0.450 7 352 --- --- --- --- POLE 5426 broad.mit.edu 37 12 133220099 133220100 + Frame_Shift_Del DEL CA CA - TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr12:133220099_133220100delCA ENST00000320574.5 - 34 4380_4381 c.4337_4338delTG c.(4336-4338)gfs p.V1447fs POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1447 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GTTTATTGACCACACACACACA 0.604 DNA polymerases (catalytic subunits) 12 614 --- --- --- --- GOLGA8DP 100132979 broad.mit.edu 37 15 22709277 22709278 + RNA INS - - A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr15:22709277_22709278insA ENST00000314246.8 - 0 1157 CTCTGGATTCCAaaaaaaaaag 0.515 9 150 --- --- --- --- SCARF1 8578 broad.mit.edu 37 17 1548956 1548957 + In_Frame_Ins INS - - AGC rs142617742 by1000genomes TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr17:1548956_1548957insAGC ENST00000263071.4 - 1 84_85 c.35_36insGCT c.(34-36)ctg>cGCTtg p.11_12insR SCARF1_ENST00000348987.3_In_Frame_Ins_p.11_12insR|SCARF1_ENST00000571272.1_In_Frame_Ins_p.11_12insR NM_003693.2|NM_145350.1 NP_003684.2|NP_663325.1 Q14162 SREC_HUMAN scavenger receptor class F, member 1 11 cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCCGAGTCCAGAGCAGCAGCAG 0.698 8 10 --- --- --- --- CCDC144B 284047 broad.mit.edu 37 17 18498497 18498498 + RNA INS - - A rs72195768 TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr17:18498497_18498498insA ENST00000442583.1 - 0 749 NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 CTGCAGGCCTGAAAAAAAAAAA 0.243 2 4 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27620806 27620808 + In_Frame_Del DEL TTC TTC - TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr17:27620806_27620808delTTC ENST00000225388.4 - 1 328_330 c.270_272delGAA c.(268-273)aaa>aa p.KK90del NUFIP2_ENST00000579665.1_In_Frame_Del_p.KK90del NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 90 nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) caGACCTGTTTTCTTCTTCGGCG 0.645 9 260 --- --- --- --- SERPINB3 6317 broad.mit.edu 37 18 61324536 61324537 + Frame_Shift_Ins INS - - T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr18:61324536_61324537insT ENST00000283752.5 - 6 722_723 c.579_580insA c.(577-582)gaatacfs p.Y194fs SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Frame_Shift_Ins_p.Y194fs NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 194 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TCTTTAGTATCTTCTTTATTAA 0.292 8 167 --- --- --- --- ADNP2 22850 broad.mit.edu 37 18 77895551 77895552 + Frame_Shift_Ins INS - - T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr18:77895551_77895552insT ENST00000262198.4 + 4 2710_2711 c.2255_2256insT c.(2254-2256)taafs p.*752fs NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 752 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) TGTCTGTCTTGTAAGTGCTTGG 0.475 14 344 --- --- --- --- FAM98C 147965 broad.mit.edu 37 19 38899502 38899504 + In_Frame_Del DEL AAG AAG - TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr19:38899502_38899504delAAG ENST00000252530.5 + 8 1049_1051 c.1030_1032delAAG c.(1030-1032)del p.K349del FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del|FAM98C_ENST00000588262.1_3'UTR NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 349 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TTGGGGTCGCAAGAAGAAGAAGA 0.606 10 132 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299147 46299149 + In_Frame_Del DEL CCT CCT - TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx b771fd10-af27-4da6-aa24-7ecc2d1474e0 4d253e9a-9140-4429-b6ee-974f840c42cb g.chr19:46299147_46299149delCCT ENST00000221538.3 - 6 2274_2276 c.2132_2134delAGG c.(2131-2136)ggc>g p.EG711del RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 711 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 GTctcctcgccctcctcctcctc 0.557 9 336 --- --- --- ---