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 UBBP4 23666 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 4 87 0 0 0.150653 0 0 PGGT1B 5229 broad.mit.edu 37 5 114573612 114573612 + Missense_Mutation SNP C C A TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr5:114573612C>A ENST00000419445.1 - 4 442 c.422G>T c.(421-423)cGa>cTa p.R141L PGGT1B_ENST00000379615.3_Missense_Mutation_p.R141L NM_005023.3 NP_005014.2 P53609 PGTB1_HUMAN protein geranylgeranyltransferase type I, beta subunit 141 protein geranylgeranylation CAAX-protein geranylgeranyltransferase complex CAAX-protein geranylgeranyltransferase activity breast(2)|endometrium(1)|large_intestine(2)|lung(1) 6 all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06) Pravastatin(DB00175) TTTATTTACTCGGCTTAAGTC 0.418000 7 354 0.00136819 0.0017706 0.411799 1 0 SON 6651 broad.mit.edu 37 21 34925822 34925822 + Missense_Mutation SNP C C A TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr21:34925822C>A ENST00000356577.4 + 3 4760 c.4285C>A c.(4285-4287)Cct>Act p.P1429T SON_ENST00000290239.6_Missense_Mutation_p.P1429T|SON_ENST00000381679.4_Missense_Mutation_p.P1429T|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.P1429T NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 1429 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 AGTCCTTCAACCTTCTATGAT 0.493000 3 94 0.150653 0.174441 0.150653 1 0 BMF 90427 broad.mit.edu 37 15 40396525 40396525 + Silent SNP C C T TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr15:40396525C>T ENST00000354670.4 - 4 543 c.309G>A c.(307-309)cgG>cgA p.R103R BMF_ENST00000220446.4_Intron|BMF_ENST00000561282.1_Silent_p.R103R|BMF_ENST00000559701.1_Intron|BMF_ENST00000431415.3_Silent_p.R103R|BMF_ENST00000558774.1_Intron|BMF_ENST00000397573.1_Silent_p.R103R|BMF_ENST00000561360.1_Silent_p.R103R NM_001003940.1 NP_001003940.1 Q96LC9 BMF_HUMAN Bcl2 modifying factor 103 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|mitochondrial outer membrane|myosin complex|plasma membrane protein binding endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 6 all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516) GGAGAGGAAGCCGATAGCCAG 0.572000 3 25 0 0 0.115264 0 0 PLCD3 113026 broad.mit.edu 37 17 43194081 43194081 + Missense_Mutation SNP C C T TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr17:43194081C>T ENST00000322765.5 - 8 1444 c.1331G>A c.(1330-1332)cGc>cAc p.R444H PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 444 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) GCAGAGGTGGCGGGCCATGGC 0.672000 3 18 0 0 0.115264 0 0 NINJ2 4815 broad.mit.edu 37 12 675233 675233 + Missense_Mutation SNP G G A TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr12:675233G>A ENST00000305108.4 - 2 563 c.283C>T c.(283-285)Cgg>Tgg p.R95W NINJ2_ENST00000542920.1_Missense_Mutation_p.R13W|NINJ2_ENST00000537416.1_Intron|NINJ2_ENST00000397265.3_Missense_Mutation_p.R42W|NINJ2_ENST00000433832.2_Missense_Mutation_p.R13W NM_016533.4 NP_057617.2 Q9NZG7 NINJ2_HUMAN ninjurin 2 49 nervous system development|neuron cell-cell adhesion|tissue regeneration integral to plasma membrane large_intestine(3)|lung(1)|ovary(2) 6 all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185) OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508) GCCTTCAGCCGCATGGCGTTG 0.612000 3 32 0 0 0.115264 0 0 SERINC5 256987 broad.mit.edu 37 5 79498750 79498750 + Silent SNP G G A TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr5:79498750G>A ENST00000507668.2 - 2 300 c.150C>T c.(148-150)tgC>tgT p.C50C SERINC5_ENST00000512721.1_Silent_p.C50C|SERINC5_ENST00000513907.1_5'UTR|SERINC5_ENST00000512972.2_Silent_p.C50C|SERINC5_ENST00000509193.1_Silent_p.C50C NM_001174071.1|NM_178276.5 NP_001167542.1|NP_840060.1 Q86VE9 SERC5_HUMAN serine incorporator 5 50 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity endoplasmic reticulum membrane|integral to membrane endometrium(3)|kidney(1)|lung(3)|ovary(1) 8 Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34) TCATGATGCAGCAGAGGACGA 0.532000 3 70 0 0 0.115264 0 0 DCLK1 9201 broad.mit.edu 37 13 36686230 36686230 + Missense_Mutation SNP C C T TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr13:36686230C>T ENST00000255448.4 - 3 710 c.499G>A c.(499-501)Gcc>Acc p.A167T DCLK1_ENST00000379892.4_Missense_Mutation_p.A167T|DCLK1_ENST00000360631.3_Missense_Mutation_p.A167T NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 167 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) TTGGCAGTGGCCAGTGAAGAC 0.537000 3 51 0 0 0.150653 0 0 OR5D13 390142 broad.mit.edu 37 11 55541604 55541604 + Nonsense_Mutation SNP C C T TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr11:55541604C>T ENST00000361760.1 + 1 691 c.691C>T c.(691-693)Cga>Tga p.R231* NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TATGAAGATGCGATCTGCAAG 0.428000 5 284 0 0 0.184627 0 0 MCHR1 2847 broad.mit.edu 37 22 41075734 41075734 + Silent SNP G G A TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr22:41075734G>A ENST00000249016.4 + 1 981 c.285G>A c.(283-285)tcG>tcA p.S95S MCHR1_ENST00000498400.1_Intron|MCHR1_ENST00000381433.2_Silent_p.S95S NM_005297.3 NP_005288.3 Q99705 MCHR1_HUMAN melanin-concentrating hormone receptor 1 95 elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1) 20 ACCTCACTTCGGCAGGTGAGT 0.597000 3 77 0 0 0.115264 0 0 HIVEP1 3096 broad.mit.edu 37 6 12122555 12122555 + Missense_Mutation SNP C C T TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr6:12122555C>T ENST00000379388.2 + 4 2859 c.2527C>T c.(2527-2529)Ccg>Tcg p.P843S NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 843 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TAATTCCATGCCGACCACAGG 0.408000 6 478 0 0 0.217242 0 0 DNMT1 1786 broad.mit.edu 37 19 10265690 10265690 + Missense_Mutation SNP G G A TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr19:10265690G>A ENST00000340748.4 - 19 1722 c.1487C>T c.(1486-1488)gCg>gTg p.A496V DNMT1_ENST00000359526.4_Missense_Mutation_p.A512V|DNMT1_ENST00000540357.1_Missense_Mutation_p.A496V P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 496 DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) AAATATGGGCGCATACTCGGG 0.522000 3 30 0 0 0.115264 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 8 190 0 0 0.278610 0 0 PPOX 5498 broad.mit.edu 37 1 161140729 161140729 + Nonsense_Mutation SNP G G A TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr1:161140729G>A ENST00000367999.4 + 12 1547 c.1281G>A c.(1279-1281)tgG>tgA p.W427* PPOX_ENST00000544598.1_Nonsense_Mutation_p.W135*|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Nonsense_Mutation_p.W427*|PPOX_ENST00000495483.1_Intron NM_001122764.1 NP_001116236.1 P50336 PPOX_HUMAN protoporphyrinogen oxidase 427 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity p.W427*(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3) 15 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TAGGTCACTGGCAAAAACTAG 0.478000 5 235 0 0 0.217242 0 0 CR1 1378 broad.mit.edu 37 1 207762112 207762112 + Missense_Mutation SNP A A G TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr1:207762112A>G ENST00000367049.4 + 35 5803 c.5803A>G c.(5803-5805)Aat>Gat p.N1935D CR1_ENST00000367052.1_Missense_Mutation_p.N1485D|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.N1485D|CR1_ENST00000400960.2_Missense_Mutation_p.N1485D|CR1_ENST00000367051.1_Missense_Mutation_p.N1485D|RP11-78B10.2_ENST00000597497.1_RNA NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1485 Sushi 30. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TTATTCTTGTAATGAAGGGTG 0.408000 6 92 0 0 0.217242 0 0 RYR3 6263 broad.mit.edu 37 15 34060876 34060876 + Missense_Mutation SNP C C T TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr15:34060876C>T ENST00000389232.4 + 61 8793 c.8723C>T c.(8722-8724)gCc>gTc p.A2908V RYR3_ENST00000415757.3_Missense_Mutation_p.A2908V NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2908 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGCAAACTTGCCGCTCTCGTT 0.448000 5 306 0 0 0.248553 0 0 LINC00886 730091 broad.mit.edu 37 3 156527708 156527708 + RNA SNP G G T TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr3:156527708G>T ENST00000472943.1 - 0 148 NR_038387.1 GCATCAAAACGCGTTTCCACC 0.448000 3 59 0.115264 0.137071 0.115264 1 0 RAG1 5896 broad.mit.edu 37 11 36595447 36595447 + Missense_Mutation SNP G G A TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr11:36595447G>A ENST00000299440.5 + 2 705 c.593G>A c.(592-594)aGg>aAg p.R198K NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 198 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) TACTTCCCGAGGAACGTGACC 0.547000 Familial Hemophagocytic Lymphohistiocytosis 15 142 0 0 0.539581 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 42 0 0 0.115264 0 0 SCAF11 9169 broad.mit.edu 37 12 46321196 46321196 + Missense_Mutation SNP G G A TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr12:46321196G>A ENST00000465950.1 - 1 2552 c.1343C>T c.(1342-1344)gCg>gTg p.A448V SCAF11_ENST00000549162.1_Missense_Mutation_p.A571V|SCAF11_ENST00000419565.2_Missense_Mutation_p.A763V|SCAF11_ENST00000369367.3_Missense_Mutation_p.A763V Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 763 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 CTTTTCATCCGCAAGATCAGA 0.358000 6 470 0 0 0.217242 0 0 TRMT13 54482 broad.mit.edu 37 1 100606469 100606469 + Missense_Mutation SNP A A G TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr1:100606469A>G ENST00000370141.2 + 7 569 c.563A>G c.(562-564)gAg>gGg p.E188G NM_019083.2 NP_061956.2 tRNA methyltransferase 13 homolog (S. cerevisiae) TGCTTTGTTGAGTTTGGAGCG 0.343000 3 134 0 0 0.115264 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401104 11401104 + Missense_Mutation SNP C C T TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr4:11401104C>T ENST00000002596.5 - 2 1700 c.526G>A c.(526-528)Gag>Aag p.E176K NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 176 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 ACCAGGAACTCCTCGATGGAC 0.587000 7 49 0 0 0.278610 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 41 0 0 0.184627 0 0 NIPAL1 152519 broad.mit.edu 37 4 48027238 48027238 + Missense_Mutation SNP G G A TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr4:48027238G>A ENST00000295461.5 + 2 266 c.200G>A c.(199-201)aGt>aAt p.S67N NIPAL1_ENST00000508180.1_3'UTR NM_207330.1 NP_997213.1 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 67 integral to membrane endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 AACAAATACAGTCTTTATGTG 0.443000 6 297 0 0 0.278610 0 0 TTC37 9652 broad.mit.edu 37 5 94838675 94838675 + Missense_Mutation SNP C C G TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr5:94838675C>G ENST00000358746.2 - 32 3548 c.3250G>C c.(3250-3252)Gag>Cag p.E1084Q NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1084 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 TTGTCTTGCTCCGATTCAACA 0.363000 7 94 0 0 0.278610 0 0 RUNX1T1 862 broad.mit.edu 37 8 93088224 93088224 + Silent SNP G G A TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr8:93088224G>A ENST00000523629.1 - 2 511 c.57C>T c.(55-57)tgC>tgT p.C19C RUNX1T1_ENST00000522163.1_5'UTR|RUNX1T1_ENST00000360348.2_Intron|RUNX1T1_ENST00000518844.1_5'UTR|RUNX1T1_ENST00000520724.1_Intron|RUNX1T1_ENST00000436581.2_Intron|RUNX1T1_ENST00000265814.3_Silent_p.C19C NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 19 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CTTTTTTCCGGCAGTCACCTA 0.358000 8 809 0 0 0.335167 0 0 SORBS2 8470 broad.mit.edu 37 4 186539747 186539747 + Silent SNP C C T TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr4:186539747C>T ENST00000431808.1 - 16 3194 c.2631G>A c.(2629-2631)caG>caA p.Q877Q SORBS2_ENST00000284776.7_Silent_p.Q877Q|SORBS2_ENST00000449407.2_Silent_p.Q421Q|SORBS2_ENST00000448662.2_Silent_p.Q438Q|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000393528.3_Silent_p.Q443Q|SORBS2_ENST00000355634.5_Silent_p.Q977Q|SORBS2_ENST00000437304.2_Silent_p.Q601Q|SORBS2_ENST00000319471.9_Silent_p.Q508Q|SORBS2_ENST00000418609.1_Silent_p.Q781Q O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 877 SH3 1. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding 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) ACTTAGATGTCTGAGCCTTAA 0.289000 3 46 0 0 0.115264 0 0 FRYL 285527 broad.mit.edu 37 4 48622719 48622719 + Missense_Mutation SNP C C T TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr4:48622719C>T ENST00000358350.4 - 6 855 c.251G>A c.(250-252)cGc>cAc p.R84H FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.R84H|FRYL_ENST00000503238.1_Missense_Mutation_p.R84H|FRYL_ENST00000537810.1_Missense_Mutation_p.R84H NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 TCCATTTTGGCGTCTGTACCA 0.418000 6 317 0 0 0.217242 0 0 NBPF10 100132406 broad.mit.edu 37 1 145327548 145327548 + Missense_Mutation SNP A A G TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr1:145327548A>G ENST00000342960.5 + 32 4140 c.4105A>G c.(4105-4107)Aat>Gat p.N1369D NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1369 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GGACTCACTGAATAGATGTTA 0.473000 4 13 0 0 0.150653 0 0 TTLL10 254173 broad.mit.edu 37 1 1116222 1116223 + Frame_Shift_Ins INS - - G TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr1:1116222_1116223insG ENST00000379290.1 + 8 910_911 c.737_738insG c.(736-738)cggfs p.R246fs TTLL10_ENST00000379288.3_Frame_Shift_Ins_p.R173fs|TTLL10_ENST00000379289.1_Frame_Shift_Ins_p.R246fs Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 246 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGCAAGGTGCCGGGGGGGGTCC 0.723 2 4 --- --- --- --- ANKRD20A12P 100874392 broad.mit.edu 37 1 142720897 142720898 + RNA INS - - A TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr1:142720897_142720898insA ENST00000595144.1 - 0 204_205 GCTCTTCCTCTAAGCCACTGGT 0.277 8 40 --- --- --- --- ROBO2 6092 broad.mit.edu 37 3 77595587 77595588 + Frame_Shift_Ins INS - - T TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr3:77595587_77595588insT ENST00000461745.1 + 7 1933_1934 c.1033_1034insT c.(1033-1035)tttfs p.F345fs ROBO2_ENST00000332191.8_Frame_Shift_Ins_p.F345fs|ROBO2_ENST00000487694.3_Frame_Shift_Ins_p.F361fs NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 345 Ig-like C2-type 4. 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 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) ACAGCCAGCTGTTTTTTGGCAG 0.485 7 1076 --- --- --- --- TNFRSF21 27242 broad.mit.edu 37 6 47253988 47253989 + Frame_Shift_Ins INS - - G TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr6:47253988_47253989insG ENST00000296861.2 - 2 832_833 c.439_440insC c.(439-441)tacfs p.Y147fs NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 147 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) ACACACCGTATGGGGGGCACAG 0.554 8 533 --- --- --- --- CBLL1 79872 broad.mit.edu 37 7 107395909 107395909 + Frame_Shift_Del DEL A A - TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr7:107395909delA ENST00000440859.2 + 5 880 c.413delA c.(412-414)gafs p.E138fs CBLL1_ENST00000222597.2_Frame_Shift_Del_p.E137fs|CBLL1_ENST00000415884.2_Intron NM_024814.2 NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase 138 cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 ATTTTACATGAAAAAAAGGGA 0.269 7 323 --- --- --- --- TAF2 6873 broad.mit.edu 37 8 120801888 120801889 + Frame_Shift_Ins INS - - A TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr8:120801888_120801889insA ENST00000378164.2 - 12 1809_1810 c.1511_1512insT c.(1510-1512)taafs p.*504fs NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 504 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AAATGGATTTCAAAAACCCAGA 0.406 7 548 --- --- --- --- TXNRD1 7296 broad.mit.edu 37 12 104651847 104651848 + Frame_Shift_Ins INS - - A TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr12:104651847_104651848insA ENST00000525566.1 + 3 318_319 c.294_295insA c.(292-297)ctatcafs p.S99fs TXNRD1_ENST00000429002.2_Frame_Shift_Ins_p.S99fs|TXNRD1_ENST00000526006.1_3'UTR NM_001093771.2 NP_001087240.1 Q16881 TRXR1_HUMAN thioredoxin reductase 1 99 Glutaredoxin. cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 16 TGCTTGAACTTGATCAAACAGG 0.317 3 6 --- --- --- --- FAM101A 144347 broad.mit.edu 37 12 124719609 124719610 + RNA INS - - CATTAA TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr12:124719609_124719610insCATTAA ENST00000540762.1 + 0 444 accatcaccatcaccatcacca 0.485 3 4 --- --- --- --- STRN3 29966 broad.mit.edu 37 14 31381228 31381229 + Frame_Shift_Ins INS - - T TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr14:31381228_31381229insT ENST00000355683.5 - 9 1497_1498 c.1282_1283insA c.(1282-1284)agtfs p.S428fs STRN3_ENST00000357479.5_Frame_Shift_Ins_p.S512fs NM_014574.3 NP_055389.3 Q13033 STRN3_HUMAN striatin, calmodulin binding protein 3 458 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) GGCAGGAACTGTTTTTTGCAGG 0.381 8 718 --- --- --- --- RP6-114E22.1 0 broad.mit.edu 37 14 72352549 72352569 + RNA DEL CTGTTTAATACTAGTGGAAAG CTGTTTAATACTAGTGGAAAG - TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr14:72352549_72352569delCTGTTTAATACTAGTGGAAAG ENST00000555581.1 + 0 131 GTGTCTCTCTCTGTTTAATACTAGTGGAAAGCTGTTTAATA 0.398 2 4 --- --- --- --- PRRT2 112476 broad.mit.edu 37 16 29825015 29825016 + Frame_Shift_Ins INS - - C TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a 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|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000567551.1_3'UTR|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 4 6 --- --- --- --- KRT24 192666 broad.mit.edu 37 17 38859835 38859836 + Frame_Shift_Ins INS - - C TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 409dd077-dab9-4f79-9c33-2c3b75b63125 6db595af-e34b-4058-95e5-0e95821e0f4a g.chr17:38859835_38859836insC ENST00000264651.2 - 1 166_167 c.110_111insG c.(109-111)gagfs p.E37fs NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 37 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) GGGCCGAGCTGCCCCCCAGACC 0.658 7 129 --- --- --- ---